{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1904","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1902","results":[{"created":"2020-03-16T20:01:49.362302+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1707","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEMA6B as Green List (high evidence)","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2020-03-16T20:01:49.352903+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1707","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema6b has been classified as Green List (High Evidence).","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2020-03-16T20:01:26.775702+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1706","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SEMA6B was added\ngene: SEMA6B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEMA6B were set to 32169168\nPhenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy\nMode of pathogenicity for gene: SEMA6B was set to Other\nReview for gene: SEMA6B was set to GREEN\nAdded comment: Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD. \nSources: Literature","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2020-03-16T20:01:10.100380+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.633","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEMA6B as ready","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2020-03-16T20:01:10.091872+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.633","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema6b has been classified as Green List (High Evidence).","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2020-03-16T19:59:41.428554+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.633","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEMA6B as Green List (high evidence)","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2020-03-16T19:59:41.415894+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.633","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema6b has been classified as Green List (High Evidence).","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2020-03-16T19:59:13.249071+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.632","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SEMA6B was added\ngene: SEMA6B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEMA6B were set to 32169168\nPhenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy\nMode of pathogenicity for gene: SEMA6B was set to Other\nReview for gene: SEMA6B was set to GREEN\nAdded comment: Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD. \nSources: Literature","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2020-03-14T15:00:06.656986+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1705","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT74 were set to 27486776","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:59:42.580250+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1704","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFT74 as Green List (high evidence)","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:59:42.571644+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1704","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift74 has been classified as Green List (High Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:59:24.676663+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1703","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants and BBS phenotype reported.; Changed rating: GREEN; Changed publications: 27486776, 32144365","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:58:45.771236+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFT74 as Green List (high evidence)","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:58:45.758153+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift74 has been classified as Green List (High Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:58:17.153489+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported.; Changed rating: GREEN; Changed publications: 27486776, 32144365","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:57:43.838106+11:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT74 were set to 27486776","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:57:12.195557+11:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFT74 as Green List (high evidence)","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:57:12.187056+11:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift74 has been classified as Green List (High Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:56:44.064781+11:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT74: Changed rating: GREEN","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:56:14.609664+11:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single family plus functional data. \nSources: Expert list; to: Single family plus functional data (zebrafish model consistent with ciliopathy). \r\nSources: Expert list","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:54:39.911569+11:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported.; Changed publications: 27486776, 32144365","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:53:56.273858+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT74 were set to 27486776","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:53:21.437388+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported. However, neither had renal disease.; Changed publications: 27486776, 32144365","entity_name":"IFT74","entity_type":"gene"},{"created":"2020-03-14T14:47:41.080566+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1703","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMTA1 as ready","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:47:41.067632+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1703","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camta1 has been classified as Green List (High Evidence).","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:47:33.634584+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1703","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAMTA1 were changed from  to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:47:19.544632+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1702","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAMTA1 were set to ","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:46:49.193922+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1701","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:46:35.641749+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1700","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CAMTA1.","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:46:17.836384+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1700","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:42:33.403943+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMTA1 as ready","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:42:33.390637+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camta1 has been classified as Red List (Low Evidence).","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:42:28.304745+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAMTA1 were changed from  to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:41:58.421549+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAMTA1 were set to ","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:41:28.215463+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:41:04.811796+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAMTA1 as Red List (low evidence)","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:41:04.803066+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camta1 has been classified as Red List (Low Evidence).","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:40:35.259934+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:40:27.154472+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2468","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAMTA1 were set to ","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:38:43.594464+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2467","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CAMTA1.","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-14T14:38:31.370152+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2467","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CAMTA1","entity_type":"gene"},{"created":"2020-03-12T16:04:37.413868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1700","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNNI3K as ready","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T16:04:37.390186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1700","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnni3k has been classified as Green List (High Evidence).","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T16:04:28.091084+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1700","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TNNI3K as Green List (high evidence)","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T16:04:28.082286+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1700","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnni3k has been classified as Green List (High Evidence).","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T16:02:27.401135+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1699","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TNNI3K was added\ngene: TNNI3K was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNNI3K were set to 30010057; 29355681\nPhenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy, MIM#\t616117\nReview for gene: TNNI3K was set to GREEN\ngene: TNNI3K was marked as current diagnostic\nAdded comment: At least 6 multigenerational families reported where variants segregated with disease. \nSources: Expert list","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T15:57:10.943221+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNNI3K as ready","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T15:57:10.936771+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: At least 6 multigenerational families reported where variants segregated with disease.","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T15:57:10.890820+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnni3k has been classified as Green List (High Evidence).","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T15:56:47.376594+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy\t616117 to Cardiac conduction disease with or without dilated cardiomyopathy, MIM#\t616117","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T15:56:24.182208+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TNNI3K as Green List (high evidence)","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T15:56:24.168755+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnni3k has been classified as Green List (High Evidence).","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T15:52:11.846370+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.20","user_name":"Ivan Macciocca","item_type":"entity","text":"gene: TNNI3K was added\ngene: TNNI3K was added to Dilated Cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNNI3K were set to 30010057; 29355681\nPhenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy\t616117\nReview for gene: TNNI3K was set to GREEN\ngene: TNNI3K was marked as current diagnostic\nAdded comment: mutliple families reported.  Green on England PanelApp \nSources: Expert list","entity_name":"TNNI3K","entity_type":"gene"},{"created":"2020-03-12T14:12:53.858279+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KREMEN1 as ready","entity_name":"KREMEN1","entity_type":"gene"},{"created":"2020-03-12T14:12:53.848804+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kremen1 has been classified as Amber List (Moderate Evidence).","entity_name":"KREMEN1","entity_type":"gene"},{"created":"2020-03-12T14:12:50.208190+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KREMEN1 were set to ","entity_name":"KREMEN1","entity_type":"gene"},{"created":"2020-03-12T14:12:31.903490+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KREMEN1 as Amber List (moderate evidence)","entity_name":"KREMEN1","entity_type":"gene"},{"created":"2020-03-12T14:12:31.890269+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kremen1 has been classified as Amber List (Moderate Evidence).","entity_name":"KREMEN1","entity_type":"gene"},{"created":"2020-03-12T14:12:22.113359+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KREMEN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29526031, 29526031; Phenotypes: Ectodermal dysplasia 13, hair/tooth type, 617392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KREMEN1","entity_type":"gene"},{"created":"2020-03-12T12:31:05.997881+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Ectodermal Dysplasia_RMH to Ectodermal Dysplasia\nPanel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-03-12T12:29:19.253094+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ENAM as ready","entity_name":"ENAM","entity_type":"gene"},{"created":"2020-03-12T12:29:19.239666+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: enam has been classified as Red List (Low Evidence).","entity_name":"ENAM","entity_type":"gene"},{"created":"2020-03-12T12:29:11.677097+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ENAM was added\ngene: ENAM was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ENAM were set to Amelogenesis imperfecta, type IB, MIM#\t104500; Amelogenesis imperfecta, type IC, MIM#\t204650\nReview for gene: ENAM was set to RED\nAdded comment: Affects teeth only. \nSources: Expert list","entity_name":"ENAM","entity_type":"gene"},{"created":"2020-03-11T20:40:44.803699+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PKP1 as ready","entity_name":"PKP1","entity_type":"gene"},{"created":"2020-03-11T20:40:44.795203+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pkp1 has been classified as Green List (High Evidence).","entity_name":"PKP1","entity_type":"gene"},{"created":"2020-03-11T20:40:39.639764+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PKP1 as Green List (high evidence)","entity_name":"PKP1","entity_type":"gene"},{"created":"2020-03-11T20:40:39.626764+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pkp1 has been classified as Green List (High Evidence).","entity_name":"PKP1","entity_type":"gene"},{"created":"2020-03-11T20:40:31.072031+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PKP1 was added\ngene: PKP1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PKP1 were set to 26288439; 9326952\nPhenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome MIM#604536\nReview for gene: PKP1 was set to GREEN\nAdded comment: Ectodermal dysplasia is a prominent feature of the condition. >3 cases reported. \nSources: Expert list","entity_name":"PKP1","entity_type":"gene"},{"created":"2020-03-11T20:31:20.226808+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPT2 as ready","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:31:20.215739+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpt2 has been classified as Green List (High Evidence).","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:31:16.928863+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GPT2 as Green List (high evidence)","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:31:16.915495+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpt2 has been classified as Green List (High Evidence).","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:30:48.823398+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GPT2 was added\ngene: GPT2 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPT2 were set to 27601654; 25758935\nPhenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49, MIM#616281\nReview for gene: GPT2 was set to GREEN\nAdded comment: Two missense and 1 truncating variants reported, in 3 unrelated consanguineous families with intellectual and developmental disabilities and microcephaly. Functional studies showed loss of enzyme activity. \nSources: Expert list","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:29:55.834898+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NFKBIA as ready","entity_name":"NFKBIA","entity_type":"gene"},{"created":"2020-03-11T20:29:55.826173+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nfkbia has been classified as Green List (High Evidence).","entity_name":"NFKBIA","entity_type":"gene"},{"created":"2020-03-11T20:29:48.239971+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NFKBIA as Green List (high evidence)","entity_name":"NFKBIA","entity_type":"gene"},{"created":"2020-03-11T20:29:48.231031+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nfkbia has been classified as Green List (High Evidence).","entity_name":"NFKBIA","entity_type":"gene"},{"created":"2020-03-11T20:29:37.539203+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NFKBIA was added\ngene: NFKBIA was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFKBIA were set to 28597146\nPhenotypes for gene: NFKBIA were set to Ectodermal dysplasia and immunodeficiency 2 MIM#612132\nMode of pathogenicity for gene: NFKBIA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: NFKBIA was set to GREEN\nAdded comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported. Gain-of-function missense variants and nonsense variants upstream from S32 associated with the reinitiation of translation downstream. \nSources: Expert list","entity_name":"NFKBIA","entity_type":"gene"},{"created":"2020-03-11T20:29:24.546126+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1698","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPT2 as ready","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:29:24.531441+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1698","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpt2 has been classified as Green List (High Evidence).","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:29:15.762082+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1698","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GPT2 were changed from  to Mental retardation, autosomal recessive 49, MIM#616281","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:28:52.989847+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1697","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPT2 were set to ","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:28:32.650586+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1696","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:28:12.419315+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1695","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27601654, 25758935; Phenotypes: Mental retardation, autosomal recessive 49, MIM#616281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:27:09.128089+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2467","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPT2 as ready","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:27:09.114728+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2467","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpt2 has been classified as Green List (High Evidence).","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:27:03.491103+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2467","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GPT2 were changed from  to Mental retardation, autosomal recessive 49, MIM#616281","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:26:36.727960+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2466","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPT2 were set to ","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:26:10.250044+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2465","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-03-11T20:10:43.973786+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NECTIN1 as ready","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2020-03-11T20:10:43.954039+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nectin1 has been classified as Green List (High Evidence).","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2020-03-11T20:10:40.659476+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NECTIN1 as Green List (high evidence)","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2020-03-11T20:10:40.647685+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nectin1 has been classified as Green List (High Evidence).","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2020-03-11T20:09:24.465972+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NECTIN1 was added\ngene: NECTIN1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NECTIN1 were set to 25913853\nPhenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060\nReview for gene: NECTIN1 was set to GREEN\nAdded comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported \nSources: Expert list","entity_name":"NECTIN1","entity_type":"gene"},{"created":"2020-03-11T19:48:07.207943+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KRT74 as Amber List (moderate evidence)","entity_name":"KRT74","entity_type":"gene"},{"created":"2020-03-11T19:48:07.199405+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: krt74 has been classified as Amber List (Moderate Evidence).","entity_name":"KRT74","entity_type":"gene"},{"created":"2020-03-11T19:47:52.522332+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: None; Publications: 24714551; Phenotypes: Ectodermal dysplasia 7, hair/nail type MIM#614929; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KRT74","entity_type":"gene"},{"created":"2020-03-11T19:32:17.793537+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: IKBKG as ready","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-03-11T19:32:17.784330+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ikbkg has been classified as Green List (High Evidence).","entity_name":"IKBKG","entity_type":"gene"},{"created":"2020-03-11T19:32:11.915788+11:00","panel_name":"Ectodermal Dysplasia_RMH","panel_id":3089,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IKBKG as Green List (high evidence)","entity_name":"IKBKG","entity_type":"gene"}]}