{"count":220460,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1528","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1526","results":[{"created":"2020-10-24T19:49:39.914223+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:49:11.167999+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273, 30635494; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, 610542, Limb-girdle congenital myasthenic syndrome, Leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:47:23.053932+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5096","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFPT1 as ready","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:47:23.041836+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5096","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfpt1 has been classified as Green List (High Evidence).","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:47:16.382334+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5096","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFPT1 were changed from  to Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome; Leukoencephalopathy","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:46:59.858928+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5095","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFPT1 were set to ","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:46:27.532183+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5094","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:45:37.867340+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5093","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273, 30635494; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, 610542, Limb-girdle congenital myasthenic syndrome, Leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:42:19.616016+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFPT1 as ready","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:42:19.606216+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfpt1 has been classified as Green List (High Evidence).","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:42:16.542559+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFPT1 were set to ","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:42:03.641841+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273, 30635494]; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM# 610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-10-24T19:38:28.717788+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GMPPB as ready","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-10-24T19:38:28.707465+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gmppb has been classified as Green List (High Evidence).","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-10-24T19:38:25.791064+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-10-24T19:38:12.438725+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-10-24T18:48:40.231914+11:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-10-24T14:10:55.697386+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5093","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BMP7 as ready","entity_name":"BMP7","entity_type":"gene"},{"created":"2020-10-24T14:10:55.686964+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5093","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmp7 has been classified as Red List (Low Evidence).","entity_name":"BMP7","entity_type":"gene"},{"created":"2020-10-24T14:10:45.761787+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5093","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BMP7 was added\ngene: BMP7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP7 were set to 32266521; 24429398\nPhenotypes for gene: BMP7 were set to Non-syndromic metopic craniosynostosis\nMode of pathogenicity for gene: BMP7 was set to Other\nReview for gene: BMP7 was set to RED\nAdded comment: Non-syndromic metopic craniosynostosis: PMID 32266521 reports rs6127972 as a susceptibility SNP for non-syndromic metopic craniosynostosis\r\n\r\nCAKUT: PMID 24429398 1 family with mouse model in large cohort of CAKUT. \nSources: Literature","entity_name":"BMP7","entity_type":"gene"},{"created":"2020-10-24T14:08:06.780825+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BMP7 as ready","entity_name":"BMP7","entity_type":"gene"},{"created":"2020-10-24T14:08:06.770416+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmp7 has been classified as Red List (Low Evidence).","entity_name":"BMP7","entity_type":"gene"},{"created":"2020-10-24T14:07:48.548025+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BMP7 was added\ngene: BMP7 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP7 were set to 32266521\nPhenotypes for gene: BMP7 were set to Non-syndromic metopic craniosynostosis\nMode of pathogenicity for gene: BMP7 was set to Other\nReview for gene: BMP7 was set to RED\nAdded comment: rs6127972 identified as a susceptibility SNP for non-syndromic metopic craniosynostosis. \nSources: Literature","entity_name":"BMP7","entity_type":"gene"},{"created":"2020-10-24T13:46:49.722800+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MUSK as ready","entity_name":"MUSK","entity_type":"gene"},{"created":"2020-10-24T13:46:49.714889+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: musk has been classified as Green List (High Evidence).","entity_name":"MUSK","entity_type":"gene"},{"created":"2020-10-24T13:46:46.438593+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MUSK were set to ","entity_name":"MUSK","entity_type":"gene"},{"created":"2020-10-24T13:46:34.681567+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 15496425, 19949040, 20371544, 32253145; Phenotypes: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MUSK","entity_type":"gene"},{"created":"2020-10-24T13:38:00.996538+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTOR as ready","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-10-24T13:38:00.985579+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtor has been classified as Amber List (Moderate Evidence).","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-10-24T13:37:56.929122+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MTOR as Amber List (moderate evidence)","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-10-24T13:37:56.921809+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtor has been classified as Amber List (Moderate Evidence).","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-10-24T13:37:23.078989+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTOR was added\ngene: MTOR was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTOR were set to 33077954\nPhenotypes for gene: MTOR were set to Congenital hydrocephalus; macrocephaly\nMode of pathogenicity for gene: MTOR was set to Other\nReview for gene: MTOR was set to AMBER\nAdded comment: Two de novo missense variants reported in this cohort, along with other variants involved in the MTOR pathway. GOF postulated. \nSources: Literature","entity_name":"MTOR","entity_type":"gene"},{"created":"2020-10-24T13:33:15.358904+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMARCC1 were set to 33077954","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:32:30.220797+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5092","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMARCC1 were set to 33077954","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:32:07.548852+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5091","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. \nSources: Literature; to: Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. Supportive mouse model.\r\nSources: Literature","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:31:54.369058+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5091","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMARCC1: Changed publications: 33077954, 24170322","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:31:38.269493+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. \nSources: Literature; to: Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. Supportive mouse model.\r\nSources: Literature","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:31:27.105601+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMARCC1: Changed publications: 33077954, 24170322","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:26:17.712833+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXJ1 as ready","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-10-24T13:26:17.702312+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxj1 has been classified as Green List (High Evidence).","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-10-24T13:25:48.249246+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXJ1 as Green List (high evidence)","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-10-24T13:25:48.241595+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxj1 has been classified as Green List (High Evidence).","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-10-24T13:25:18.071329+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two de novo LOF reported as part of this large hydrocephalus cohort. \nSources: Literature; to: 8 unrelated individuals reported with de novo variants in this gene, primary ciliary dyskinesia and significant obstructive hydrocephalus.\r\nSources: Literature","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-10-24T13:24:23.856014+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FOXJ1: Changed rating: GREEN; Changed publications: 33077954, 31630787","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-10-24T13:23:35.068240+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXJ1 was added\ngene: FOXJ1 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXJ1 were set to 33077954\nPhenotypes for gene: FOXJ1 were set to Congenital hydrocephalus\nReview for gene: FOXJ1 was set to AMBER\nAdded comment: Two de novo LOF reported as part of this large hydrocephalus cohort. \nSources: Literature","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-10-24T13:21:57.493947+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5091","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCC1 as ready","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:21:57.483229+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5091","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcc1 has been classified as Green List (High Evidence).","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:21:35.243156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5091","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCC1 as Green List (high evidence)","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:21:35.234188+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5091","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcc1 has been classified as Green List (High Evidence).","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:21:15.996637+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5090","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCC1 was added\ngene: SMARCC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCC1 were set to 33077954\nPhenotypes for gene: SMARCC1 were set to Congenital hydrocephalus\nReview for gene: SMARCC1 was set to GREEN\nAdded comment: Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. \nSources: Literature","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:19:26.356423+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCC1 as ready","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:19:26.343905+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcc1 has been classified as Green List (High Evidence).","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:19:13.691111+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCC1 as Green List (high evidence)","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:19:13.680510+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcc1 has been classified as Green List (High Evidence).","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-24T13:18:43.988614+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCC1 was added\ngene: SMARCC1 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCC1 were set to 33077954\nPhenotypes for gene: SMARCC1 were set to Congenital hydrocephalus\nReview for gene: SMARCC1 was set to GREEN\nAdded comment: Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. \nSources: Literature","entity_name":"SMARCC1","entity_type":"gene"},{"created":"2020-10-23T20:39:33.705466+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN4A as ready","entity_name":"SCN4A","entity_type":"gene"},{"created":"2020-10-23T20:39:33.694148+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn4a has been classified as Green List (High Evidence).","entity_name":"SCN4A","entity_type":"gene"},{"created":"2020-10-23T20:39:16.492443+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN4A were set to ","entity_name":"SCN4A","entity_type":"gene"},{"created":"2020-10-23T20:39:02.755467+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12766226, 25707578, 32849172; Phenotypes: Myasthenic syndrome, congenital, 16, MIM# 614198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCN4A","entity_type":"gene"},{"created":"2020-10-23T20:34:48.367388+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5089","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC18A3 as ready","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-10-23T20:34:48.358072+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5089","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc18a3 has been classified as Green List (High Evidence).","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-10-23T20:34:41.054932+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5089","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC18A3 were changed from  to Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-10-23T20:34:18.681863+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5088","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC18A3 were set to ","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-10-23T20:34:00.911161+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5087","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC18A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-10-23T20:33:27.971580+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5086","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27590285, 20123977, 28188302, 31059209; Phenotypes: Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-10-23T20:31:55.378241+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC18A3 as ready","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-10-23T20:31:55.366586+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc18a3 has been classified as Green List (High Evidence).","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-10-23T20:31:50.838038+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC18A3 were set to ","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-10-23T20:31:32.530400+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27590285, 20123977, 28188302, 31059209; Phenotypes: Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-10-23T18:33:49.955041+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC5A7 as ready","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2020-10-23T18:33:49.946378+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc5a7 has been classified as Green List (High Evidence).","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2020-10-23T18:33:46.713155+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC5A7 were set to ","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2020-10-23T18:33:35.992155+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 29189923, 30172469; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2020-10-23T18:30:29.993985+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYT2 were set to 25192047; 32776697; 32250532","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:30:18.043194+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Mono-allelic disease, PMID 25192047: dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in two families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated.\r\n\r\nBi-allelic disease: 32250532 and 32776697, 8 individuals from 6 families, with biallelic loss of function variants in SYT2, clinically manifesting with severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in 4 indviduals showed clinical improvement with increased strength and function.; to: Mono-allelic disease, PMID 25192047 and 30533528: dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in two families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated.\r\n\r\nBi-allelic disease: 32250532 and 32776697, 8 individuals from 6 families, with biallelic loss of function variants in SYT2, clinically manifesting with severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in 4 indviduals showed clinical improvement with increased strength and function.","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:30:01.047074+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SYT2: Changed publications: 25192047, 32776697, 32250532, 30533528","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:29:23.256813+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5086","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYT2 were set to 25192047; 32776697; 32250532","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:29:05.575496+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5085","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Mono-allelic disease, PMID 25192047: dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in two families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated.\r\n\r\nBi-allelic disease: 32250532 and 32776697, 8 individuals from 6 families, with biallelic loss of function variants in SYT2, clinically manifesting with severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in 4 indviduals showed clinical improvement with increased strength and function.; to: Mono-allelic disease, PMID 25192047 and 30533528: dominant missense variants in SYT2 reported as a rare cause of distal motor neuropathy and myasthenic syndrome, manifesting with stable or slowly progressive distal weakness of variable severity along with presynaptic NMJ impairment in three families. These variants are thought to have a dominant-negative effect on synaptic vesicle exocytosis, although the precise pathomechanism remains to be elucidated.\r\n\r\nBi-allelic disease: 32250532 and 32776697, 8 individuals from 6 families, with biallelic loss of function variants in SYT2, clinically manifesting with severe congenital onset hypotonia and weakness, with variable degrees of respiratory involvement. Electrodiagnostic findings consistent with a presynaptic congenital myasthenic syndrome (CMS) in some. Treatment with an acetylcholinesterase inhibitor pursued in 4 indviduals showed clinical improvement with increased strength and function.","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:28:51.469165+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5085","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SYT2: Changed publications: 25192047, 32776697, 32250532, 30533528","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:25:38.798425+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5085","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYT2 as ready","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:25:38.790438+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5085","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syt2 has been classified as Green List (High Evidence).","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:25:31.678571+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5085","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYT2 were changed from  to Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:25:14.678261+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5084","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYT2 were set to ","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:24:56.692423+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5083","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:24:34.904510+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5082","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192047, 32776697, 32250532; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:23:36.216386+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYT2 as ready","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:23:36.204288+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syt2 has been classified as Green List (High Evidence).","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:23:31.847113+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYT2 were set to ","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:22:43.275900+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:22:31.204276+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192047, 32776697, 32250532; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SYT2","entity_type":"gene"},{"created":"2020-10-23T18:16:54.735217+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOK7 as ready","entity_name":"DOK7","entity_type":"gene"},{"created":"2020-10-23T18:16:54.723342+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dok7 has been classified as Green List (High Evidence).","entity_name":"DOK7","entity_type":"gene"},{"created":"2020-10-23T18:16:50.322575+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOK7 were set to ","entity_name":"DOK7","entity_type":"gene"},{"created":"2020-10-23T18:16:39.610033+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOK7","entity_type":"gene"},{"created":"2020-10-23T18:11:32.708327+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNB1 as ready","entity_name":"CHRNB1","entity_type":"gene"},{"created":"2020-10-23T18:11:32.692829+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrnb1 has been classified as Green List (High Evidence).","entity_name":"CHRNB1","entity_type":"gene"},{"created":"2020-10-23T18:11:29.634843+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRNB1 were set to ","entity_name":"CHRNB1","entity_type":"gene"},{"created":"2020-10-23T18:11:16.504058+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302,; Phenotypes: Myasthenic syndrome, congenital, 2A, slow-channel, MIM# 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CHRNB1","entity_type":"gene"},{"created":"2020-10-23T17:25:22.891185+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNA1 as ready","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2020-10-23T17:25:22.883612+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrna1 has been classified as Green List (High Evidence).","entity_name":"CHRNA1","entity_type":"gene"}]}