{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1685","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1683","results":[{"created":"2020-08-07T20:33:13.322776+10:00","panel_name":"Glaucoma congenital","panel_id":105,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-08-07T18:12:00.282206+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPT as ready","entity_name":"MAPT","entity_type":"gene"},{"created":"2020-08-07T18:12:00.269835+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapt has been classified as Green List (High Evidence).","entity_name":"MAPT","entity_type":"gene"},{"created":"2020-08-07T18:11:56.151822+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPT were changed from  to Supranuclear palsy, progressive (MIM# 601104) AD; Supranuclear palsy, progressive atypical (MIM# 260540) AR","entity_name":"MAPT","entity_type":"gene"},{"created":"2020-08-07T18:11:25.944772+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPT were set to ","entity_name":"MAPT","entity_type":"gene"},{"created":"2020-08-07T18:11:01.151844+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAPT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAPT","entity_type":"gene"},{"created":"2020-08-07T16:58:27.238358+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.53","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20838030, 11220749; Phenotypes: Supranuclear palsy, progressive (MIM#  601104) AD, Supranuclear palsy, progressive atypical (MIM# 260540) AR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"MAPT","entity_type":"gene"},{"created":"2020-08-07T16:33:31.565391+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy","entity_name":"PLN","entity_type":"gene"},{"created":"2020-08-07T13:59:15.749647+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.35","user_name":"Ivan Macciocca","item_type":"entity","text":"reviewed gene: PLN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, dilated cardiomyopathy; Mode of inheritance: None","entity_name":"PLN","entity_type":"gene"},{"created":"2020-08-07T12:29:02.208377+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3714","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX6 were changed from ADHD; Craniosynostosis; Osteochondromas to ADHD; Craniosynostosis; Osteochondromas; Tolchin-Le Caignec syndrome, MIM#618971","entity_name":"SOX6","entity_type":"gene"},{"created":"2020-08-07T12:28:40.559443+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tolchin-Le Caignec syndrome, MIM#618971; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX6","entity_type":"gene"},{"created":"2020-08-07T12:28:16.644673+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX6 were changed from ADHD; Craniosynostosis; Osteochondromas to ADHD; Craniosynostosis; Osteochondromas; Tolchin-Le Caignec syndrome, MIM#618971","entity_name":"SOX6","entity_type":"gene"},{"created":"2020-08-07T12:27:52.123451+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tolchin-Le Caignec syndrome, MIM#618971; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX6","entity_type":"gene"},{"created":"2020-08-07T12:27:30.825150+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2830","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX6 were changed from ADHD; Craniosynostosis; Osteochondromas to ADHD; Craniosynostosis; Osteochondromas; Tolchin-Le Caignec syndrome, MIM#618971","entity_name":"SOX6","entity_type":"gene"},{"created":"2020-08-07T12:26:52.765755+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2829","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SOX6: Changed rating: GREEN; Changed phenotypes: Tolchin-Le Caignec syndrome, MIM#618971; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOX6","entity_type":"gene"},{"created":"2020-08-07T12:12:45.538112+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3713","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: A recurring homozygous missense variant p.Asp211Gly  has been identified in at least 64 cases of hydrolethalus syndrome, described as a Finnish founder mutation (PMID: 15843405, PMID: 18648327). Functional studies in human and patient cells have shown mislocalisation of the protein to the nucleus (PMID: 15843405, PMID: 19400947). Functional studies in c. elegans showed that this variant impaired ciliogenesis (PMID: 19656802). Functional studies in drosophila showed that deletion of HYLS1 led to cilia dysfunction (PMID: 32509774).\r\n\r\n2 homozygous living siblings (stop-loss, extension variant p.Ter300TyrextTer11) both diagnosed with Joubert syndrome. Patients had molar tooth signs and dysplasia of cerebellar vermis (PMID: 26830932).\r\n\r\nNo other variants have been reported as pathogenic in this gene.; to: A recurring homozygous missense variant p.Asp211Gly  has been identified in at least 64 cases of hydrolethalus syndrome, described as a Finnish founder mutation (PMID: 15843405, PMID: 18648327). Functional studies in human cells have shown mislocalisation of the protein to the nucleus (PMID: 19400947). Functional studies in c. elegans showed that this variant impaired ciliogenesis (PMID: 19656802). Functional studies in drosophila showed that deletion of HYLS1 led to cilia dysfunction (PMID: 32509774).\r\n\r\n2 homozygous living siblings (stop-loss, extension variant p.Ter300TyrextTer11) both diagnosed with Joubert syndrome. Patients had molar tooth signs and dysplasia of cerebellar vermis (PMID: 26830932).\r\n\r\nNo other variants have been reported as pathogenic in this gene.","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T11:37:52.214032+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.772","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNTN2 was added\ngene: CNTN2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CNTN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNTN2 were set to 23518707\nPhenotypes for gene: CNTN2 were set to Epilepsy\nReview for gene: CNTN2 was set to RED\nAdded comment: Single family reported in 2013, supportive mouse model. \nSources: Literature","entity_name":"CNTN2","entity_type":"gene"},{"created":"2020-08-07T11:36:13.008680+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNTN2 as ready","entity_name":"CNTN2","entity_type":"gene"},{"created":"2020-08-07T11:36:12.997023+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cntn2 has been classified as Red List (Low Evidence).","entity_name":"CNTN2","entity_type":"gene"},{"created":"2020-08-07T11:36:04.103027+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CNTN2 was added\ngene: CNTN2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CNTN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNTN2 were set to 23518707\nPhenotypes for gene: CNTN2 were set to Epilepsy\nReview for gene: CNTN2 was set to RED\nAdded comment: Single family reported in 2013, supportive mouse model. \nSources: Literature","entity_name":"CNTN2","entity_type":"gene"},{"created":"2020-08-07T11:25:30.462126+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3712","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAH8 as Green List (high evidence)","entity_name":"DNAH8","entity_type":"gene"},{"created":"2020-08-07T11:25:30.453583+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3712","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnah8 has been classified as Green List (High Evidence).","entity_name":"DNAH8","entity_type":"gene"},{"created":"2020-08-07T11:24:51.810044+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3711","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DNAH8: Added comment: Four additional individuals with sperm morphological abnormalities and male infertility reported.; Changed rating: GREEN; Changed publications: 31178125, 24307375, 32619401, 32681648","entity_name":"DNAH8","entity_type":"gene"},{"created":"2020-08-07T11:01:22.207509+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRAS as ready","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-08-07T11:01:22.198825+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mras has been classified as Green List (High Evidence).","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-08-07T11:01:18.803011+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRAS as Green List (high evidence)","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-08-07T11:01:18.792453+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mras has been classified as Green List (High Evidence).","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-08-07T11:01:10.059580+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRAS was added\ngene: MRAS was added to Cardiomyopathy_Paediatric. Sources: Expert list\nMode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466\nPhenotypes for gene: MRAS were set to Noonan syndrome, MIM#618499\nReview for gene: MRAS was set to GREEN\nAdded comment: At least 6 unrelated individuals reported with NS, cardiomyopathy specifically reported \nSources: Expert list","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-08-07T10:59:23.538564+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-08-07T10:35:22.040333+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3711","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DTNA as ready","entity_name":"DTNA","entity_type":"gene"},{"created":"2020-08-07T10:35:22.028408+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3711","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dtna has been classified as Red List (Low Evidence).","entity_name":"DTNA","entity_type":"gene"},{"created":"2020-08-07T10:35:14.183112+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3711","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DTNA were changed from  to Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169","entity_name":"DTNA","entity_type":"gene"},{"created":"2020-08-07T10:34:21.721755+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3710","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DTNA were set to ","entity_name":"DTNA","entity_type":"gene"},{"created":"2020-08-07T10:34:03.372690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3709","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DTNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DTNA","entity_type":"gene"},{"created":"2020-08-07T10:32:33.481984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3708","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DTNA as Red List (low evidence)","entity_name":"DTNA","entity_type":"gene"},{"created":"2020-08-07T10:32:33.471951+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3708","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dtna has been classified as Red List (Low Evidence).","entity_name":"DTNA","entity_type":"gene"},{"created":"2020-08-07T10:32:16.300511+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3707","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: None; Publications: 29118297, 11238270, 16427346; Phenotypes: Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DTNA","entity_type":"gene"},{"created":"2020-08-07T10:30:05.605180+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAC1 as ready","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-07T10:30:05.594159+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rac1 has been classified as Amber List (Moderate Evidence).","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-07T10:30:02.175337+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC1 were changed from  to Mental retardation, autosomal dominant 48, MIM# 617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-07T10:29:39.086257+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAC1 were set to ","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-07T10:29:23.273472+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-07T10:19:07.942865+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2829","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: HYLS1.","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:19:00.441200+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2829","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HYLS1 as Amber List (moderate evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:19:00.431233+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2829","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:18:28.503470+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2828","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Given that generally most affected individuals die in utero or shortly after birth, this is probably not the right panel for this gene.; to: Single family reported with Joubert phenotype, generally most affected individuals with hydrolethalus die in utero or shortly after birth so would not present with ID. Note founder variant in Finnish population associated with the hydrolethalus phenotype.","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:17:02.050219+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2828","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HYLS1: Changed rating: AMBER; Changed publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:15:51.043483+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYLS1 as ready","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:15:51.029699+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Red List (Low Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:15:48.445173+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HYLS1 were changed from  to Hydrolethalus syndrome (MIM#236680); Joubert syndrome","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:15:30.543589+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYLS1 were set to ","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:15:06.978831+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:14:45.930770+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HYLS1 as Red List (low evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:14:45.922605+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Red List (Low Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:14:39.326155+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: HYLS1.","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:14:22.571706+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HYLS1: Rating: RED; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680), Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:11:55.398045+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYLS1 as ready","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:11:55.386768+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:11:46.253499+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HYLS1 were changed from  to Hydrolethalus syndrome (MIM#236680)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:11:26.901019+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYLS1 were set to ","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:11:06.723619+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:10:49.966510+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HYLS1 as Amber List (moderate evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:10:49.956408+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:10:23.986018+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: HYLS1.","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:10:16.279730+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:07:44.367949+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYLS1 as ready","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:07:44.355205+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:07:41.877842+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HYLS1 were changed from  to Hydrolethalus syndrome (MIM#236680)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:07:19.494866+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYLS1 were set to ","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:06:52.463289+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:06:31.240841+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HYLS1 as Amber List (moderate evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:06:31.231007+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:06:04.490346+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:03:55.014441+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYLS1 as ready","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:03:54.997182+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:03:51.171251+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HYLS1 were changed from  to Hydrolethalus syndrome (MIM#236680)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:03:25.197659+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYLS1 were set to ","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:02:59.605959+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HYLS1 as Amber List (moderate evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:02:59.597695+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:02:38.922883+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: HYLS1.","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T10:02:28.656288+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:54:48.486126+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYLS1 were set to 15843405; 18648327; 19400947; 19656802; 32509774","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:51:50.073808+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: HYLS1.","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:51:24.523476+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYLS1 as ready","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:51:24.511552+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:51:22.286403+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HYLS1 were changed from  to Hydrolethalus syndrome (MIM#236680)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:50:26.603967+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYLS1 were set to ","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:49:58.685625+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:48:02.454464+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HYLS1 as Amber List (moderate evidence)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:48:02.444252+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:47:35.202344+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:45:41.706601+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYLS1 as ready","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:45:41.697660+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Green List (High Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:45:39.347899+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HYLS1 were changed from  to Hydrolethalus syndrome (MIM#236680)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:45:16.914247+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYLS1 were set to ","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:44:48.712871+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:44:25.257118+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: HYLS1.","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:44:16.771754+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:40:20.142110+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3707","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYLS1 as ready","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:40:20.138255+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3707","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Borderline Amber/Green and mechanism unclear. However, given at least two variants reported with a ciliopathy phenotype and supporting functional data from multiple animal models all indicative of ciliopathy, keep Green.","entity_name":"HYLS1","entity_type":"gene"}]}