{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=826","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=824","results":[{"created":"2022-05-25T06:39:40.562587+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA22 as ready","entity_name":"SPATA22","entity_type":"gene"},{"created":"2022-05-25T06:39:40.550528+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata22 has been classified as Amber List (Moderate Evidence).","entity_name":"SPATA22","entity_type":"gene"},{"created":"2022-05-25T06:39:29.488632+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPATA22 as Amber List (moderate evidence)","entity_name":"SPATA22","entity_type":"gene"},{"created":"2022-05-25T06:39:29.476587+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata22 has been classified as Amber List (Moderate Evidence).","entity_name":"SPATA22","entity_type":"gene"},{"created":"2022-05-25T06:39:10.842481+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPATA22 was added\ngene: SPATA22 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: SPATA22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA22 were set to 35285020\nPhenotypes for gene: SPATA22 were set to Premature ovarian insufficiency and nonobstructive azoospermia; Genetic infertility MONDO:0017143\nReview for gene: SPATA22 was set to AMBER\nAdded comment: 1 consanguineous family with two premature ovarian insufficiency (POI) and two nonobstructive azoospermia (NOA) patients. WES identified a homozygous variant in SPATA22 (c.400C>T:p.R134X). Histological analysis and spermatocyte spreading assay demonstrated that the spermatogenesis was arrested at a zygotene-like stage in the proband with NOA. 2nd patient found with idiopathic POI and compound heterozygous variants in SPATA22 (c.900+1G>A and c.31C>T:p.R11X). \nSources: Expert Review","entity_name":"SPATA22","entity_type":"gene"},{"created":"2022-05-25T06:37:11.045217+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA22 as ready","entity_name":"SPATA22","entity_type":"gene"},{"created":"2022-05-25T06:37:11.024291+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata22 has been classified as Amber List (Moderate Evidence).","entity_name":"SPATA22","entity_type":"gene"},{"created":"2022-05-25T06:37:07.987580+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPATA22 were changed from Premature ovarian insufficiency and nonobstructive azoospermia, no OMIM # to Premature ovarian insufficiency and nonobstructive azoospermia; Genetic infertility MONDO:0017143","entity_name":"SPATA22","entity_type":"gene"},{"created":"2022-05-24T11:58:21.608537+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.175","user_name":"Krithika Murali","item_type":"entity","text":"gene: COL3A1 was added\ngene: COL3A1 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COL3A1 were set to 28742248; 19455184; 25205403\nPhenotypes for gene: COL3A1 were set to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Ehlers-Danlos syndrome, vascular type, MIM# 130050\nReview for gene: COL3A1 was set to GREEN\nAdded comment: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described. \nSources: Literature","entity_name":"COL3A1","entity_type":"gene"},{"created":"2022-05-23T19:20:21.724555+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RDH11 as Amber List (moderate evidence)","entity_name":"RDH11","entity_type":"gene"},{"created":"2022-05-23T19:20:21.711293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rdh11 has been classified as Amber List (Moderate Evidence).","entity_name":"RDH11","entity_type":"gene"},{"created":"2022-05-23T19:20:00.583881+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RDH11: Added comment: 2nd case reported: 1 Chinese patient with retinitis pigmentosa, juvenile cataracts, intellectual disability, and myopathy. Trio-based WES and whole genomic CNV detection found compound heterozygous variants in RDH11 (p.Leu313Pro and c.75-3C>A) with biparental inheritance. Variant c.75-3C>A was confirmed to be a splice-site mutation by cDNA sequencing. It caused exon 2 skipping, resulting in a frameshift mutation and premature translation termination (p.Lys26Serfs*38). They found mislocalization of RDH11 protein in muscle cells of the patient by using immunofluorescence staining. Retinol dehydrogenase 11 (RDH11) is an 11-cis-retinol dehydrogenase that has a well-characterized, albeit auxiliary role in the retinoid cycle. Diseases caused by mutations in the RDH11 gene are very rare, and only one affected family with eye and intelligence involvement has been reported.; Changed rating: AMBER; Changed publications: 24916380, 15634683, 30731079, 18326732, 34988992","entity_name":"RDH11","entity_type":"gene"},{"created":"2022-05-23T19:19:21.187057+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RDH11 were set to 24916380; 15634683; 30731079; 18326732","entity_name":"RDH11","entity_type":"gene"},{"created":"2022-05-23T19:18:44.307523+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP14 as ready","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-23T19:18:44.295075+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp14 has been classified as Red List (Low Evidence).","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-23T19:18:36.575207+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP14 were changed from Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM # to Syndromic disease MONDO:0002254, USP14-related; Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-23T19:18:16.297765+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP14 as ready","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-23T19:18:16.283692+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp14 has been classified as Red List (Low Evidence).","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-23T19:18:13.106605+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP14 were changed from Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM # to Syndromic disease MONDO:0002254, USP14-related; Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-23T19:17:11.100113+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.448","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP14 as ready","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-23T19:17:11.083982+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.448","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp14 has been classified as Red List (Low Evidence).","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-23T19:10:18.694399+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.448","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP14 were changed from Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM # to Syndromic disease MONDO:0002254, USP14-related; Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #","entity_name":"USP14","entity_type":"gene"},{"created":"2022-05-23T08:19:12.789876+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: 1 family with 4 fetus-es, cHet for a fs (NMD-predicted) and a missense\r\n\r\n3/4 vertebral malformations\r\n2/4 Tetralogy of Fallot\r\n1/4 arterial septal defect\r\n1/4 ventricular septal defect, aortic dilatation\r\n1/4 pre-axial polydactyly \nSources: Literature; to: 1 family with 4 fetus-es all cHet for a fs (NMD-predicted) and a missense\r\n\r\n3/4 vertebral malformations\r\n2/4 Tetralogy of Fallot\r\n1/4 arterial septal defect\r\n1/4 ventricular septal defect, aortic dilatation\r\n1/4 pre-axial polydactyly \r\nSources: Literature","entity_name":"ETV2","entity_type":"gene"},{"created":"2022-05-22T18:59:16.857598+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4794","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCDHGC4 were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:58:41.610318+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4793","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PCDHGC4: Changed phenotypes: Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:57:36.460494+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCDHGC4 were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:56:53.413088+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDHGC4 as ready","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:56:53.398858+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdhgc4 has been classified as Green List (High Evidence).","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:56:42.886823+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCDHGC4 as Green List (high evidence)","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:56:42.875284+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdhgc4 has been classified as Green List (High Evidence).","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:56:34.331151+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PCDHGC4: Changed rating: GREEN","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:56:27.119408+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1608","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCDHGC4 were changed from Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880 to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:56:23.915227+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCDHGC4 was added\ngene: PCDHGC4 was added to Growth failure. Sources: Expert Review\nMode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDHGC4 were set to 34244665\nPhenotypes for gene: PCDHGC4 were set to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880\nAdded comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic.\r\n\r\nPoor growth was a key feature. \nSources: Expert Review","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:55:41.622642+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1607","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCDHGC4 were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:54:58.329407+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PCDHGC4: Changed phenotypes: Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:54:36.268142+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PCDHGC4: Changed phenotypes: Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2022-05-22T18:53:29.604863+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:53:02.959266+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:52:09.357235+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:51:50.575389+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZNF526: Changed phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:51:34.999581+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4793","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:50:45.574964+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4792","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZNF526: Changed phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:50:31.430099+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1606","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:49:50.056664+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1605","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZNF526: Changed phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:49:36.779878+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.124","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:49:03.137788+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZNF526: Changed phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:48:40.334896+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:47:57.230041+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:47:23.331446+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZNF526: Changed phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877","entity_name":"ZNF526","entity_type":"gene"},{"created":"2022-05-22T18:46:26.795808+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR3F were changed from Severe VZV infection to Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872","entity_name":"POLR3F","entity_type":"gene"},{"created":"2022-05-22T18:45:51.288905+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLR3F: Changed phenotypes: Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872","entity_name":"POLR3F","entity_type":"gene"},{"created":"2022-05-22T18:45:31.613771+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR3F were changed from Severe VZV infection to Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872","entity_name":"POLR3F","entity_type":"gene"},{"created":"2022-05-22T18:45:09.604289+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLR3F: Changed phenotypes: Immunodeficiency 101 (varicella zoster virus-specific), MIM#  619872","entity_name":"POLR3F","entity_type":"gene"},{"created":"2022-05-20T16:58:17.000014+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2022-05-20T16:46:31.761572+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14798","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLRX3 as ready","entity_name":"GLRX3","entity_type":"gene"},{"created":"2022-05-20T16:46:31.743242+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14798","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glrx3 has been classified as Red List (Low Evidence).","entity_name":"GLRX3","entity_type":"gene"},{"created":"2022-05-20T16:46:23.135573+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14798","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLRX3 were set to ","entity_name":"GLRX3","entity_type":"gene"},{"created":"2022-05-20T16:41:34.221777+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14797","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNM1L as ready","entity_name":"DNM1L","entity_type":"gene"},{"created":"2022-05-20T16:41:34.203873+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14797","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnm1l has been classified as Green List (High Evidence).","entity_name":"DNM1L","entity_type":"gene"},{"created":"2022-05-20T16:41:04.111890+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14797","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNM1L were changed from  to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR); Optic atrophy 5 - MIM#610708 (AD)","entity_name":"DNM1L","entity_type":"gene"},{"created":"2022-05-20T16:40:07.777213+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14796","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DNM1L","entity_type":"gene"},{"created":"2022-05-20T16:39:35.536390+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14795","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNASE1L3 as ready","entity_name":"DNASE1L3","entity_type":"gene"},{"created":"2022-05-20T16:39:35.523467+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14795","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnase1l3 has been classified as Green List (High Evidence).","entity_name":"DNASE1L3","entity_type":"gene"},{"created":"2022-05-20T16:38:59.833836+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14795","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNASE1L3 were changed from  to Systemic lupus erythematosus 16 - MIM#614420","entity_name":"DNASE1L3","entity_type":"gene"},{"created":"2022-05-20T16:37:45.178367+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14794","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNASE1 as ready","entity_name":"DNASE1","entity_type":"gene"},{"created":"2022-05-20T16:37:45.164619+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14794","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnase1 has been classified as Red List (Low Evidence).","entity_name":"DNASE1","entity_type":"gene"},{"created":"2022-05-20T16:37:41.631657+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14794","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNASE1L3 were set to ","entity_name":"DNASE1L3","entity_type":"gene"},{"created":"2022-05-20T16:37:30.496418+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14793","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNASE1L3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNASE1L3","entity_type":"gene"},{"created":"2022-05-20T16:36:44.596044+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14792","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNASE1 were changed from  to {Systemic lupus erythematosus, susceptibility to} - MIM#152700","entity_name":"DNASE1","entity_type":"gene"},{"created":"2022-05-20T16:36:42.408976+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14791","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC6 as ready","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2022-05-20T16:36:42.396115+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14791","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc6 has been classified as Green List (High Evidence).","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2022-05-20T16:36:33.707086+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14791","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC6 were changed from  to Parkinson disease 19a, juvenile-onset - MIM#615528; Parkinson disease 19b, early-onset - MIM#615528","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2022-05-20T16:36:23.278492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14790","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNASE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DNASE1","entity_type":"gene"},{"created":"2022-05-20T16:36:11.729994+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14789","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJC6 were set to ","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2022-05-20T16:36:02.867544+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14788","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNASE1 as Red List (low evidence)","entity_name":"DNASE1","entity_type":"gene"},{"created":"2022-05-20T16:36:02.850288+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnase1 has been classified as Red List (Low Evidence).","entity_name":"DNASE1","entity_type":"gene"},{"created":"2022-05-20T16:35:37.886239+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14787","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJC6","entity_type":"gene"},{"created":"2022-05-20T16:34:10.102868+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14786","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC5 as ready","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2022-05-20T16:34:10.086729+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14786","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc5 has been classified as Green List (High Evidence).","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2022-05-20T16:34:00.920772+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14786","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC5 were changed from  to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant - MIM#162350; ceroid lipofuscinosis, neuronal, 4 (Kufs type) - MONDO:0008083","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2022-05-20T16:33:33.621733+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14785","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJC5 were set to ","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2022-05-20T16:33:30.621952+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14784","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC3 as ready","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2022-05-20T16:33:30.607932+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14784","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc3 has been classified as Green List (High Evidence).","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2022-05-20T16:33:22.019632+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14784","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC3 were changed from  to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus - MIM#616192","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2022-05-20T16:33:02.432854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14783","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2022-05-20T16:32:58.260863+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14783","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJC3 were set to ","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2022-05-20T16:31:51.874204+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14782","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJC3","entity_type":"gene"},{"created":"2022-05-20T16:29:45.584386+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14781","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC21 as ready","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2022-05-20T16:29:45.571377+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14781","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc21 has been classified as Green List (High Evidence).","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2022-05-20T16:29:36.795681+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14781","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC21 were changed from  to Bone marrow failure syndrome 3 - MIM#617052","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2022-05-20T16:29:14.909182+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14780","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJC21 were set to ","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2022-05-20T16:24:10.765259+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14779","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNM2 as ready","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-05-20T16:24:10.749046+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14779","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnm2 has been classified as Green List (High Evidence).","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-05-20T16:24:01.075122+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14779","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNM2 were changed from  to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-05-20T16:23:38.505140+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14778","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNM2 were set to ","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-05-20T16:23:11.767258+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14777","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-05-20T16:22:22.512790+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14776","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJC21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2022-05-20T16:22:13.483856+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14775","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPY19L2 as ready","entity_name":"DPY19L2","entity_type":"gene"},{"created":"2022-05-20T16:22:13.470903+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14775","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpy19l2 has been classified as Green List (High Evidence).","entity_name":"DPY19L2","entity_type":"gene"},{"created":"2022-05-20T16:18:15.113641+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14775","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPY19L2 were changed from  to Spermatogenic failure 9 - MIM#613958","entity_name":"DPY19L2","entity_type":"gene"}]}