{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=847","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=845","results":[{"created":"2022-05-10T18:09:16.471866+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14061","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9215686; Phenotypes: Glutathione synthetase deficiency, MIM# 266130, Haemolytic anemia due to glutathione synthetase deficiency 231900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GSS","entity_type":"gene"},{"created":"2022-05-10T18:06:27.048713+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4763","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2022-05-10T18:05:51.270496+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4762","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GTF3C3: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2022-05-10T18:05:40.651931+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14061","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTF3C3 as ready","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2022-05-10T18:05:40.638273+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14061","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf3c3 has been classified as Green List (High Evidence).","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2022-05-10T18:05:26.902858+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14061","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF3C3 were changed from  to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2022-05-10T18:05:06.172360+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14060","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GTF3C3 were set to ","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2022-05-10T18:04:44.910418+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14059","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GTF3C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2022-05-10T18:04:19.355869+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14058","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28097321, 30552426; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTF3C3","entity_type":"gene"},{"created":"2022-05-10T18:01:34.003624+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GUCA1A as ready","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T18:01:33.986582+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: guca1a has been classified as Green List (High Evidence).","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T18:01:31.271162+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GUCA1A were changed from Cone dystrophy-3, 602093 to Cone dystrophy-3, MIM# 602093; Cone-rod dystrophy 14, MIM# 602093","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T18:01:16.671217+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GUCA1A were set to 30679166","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T18:01:03.249906+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GUCA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T18:00:52.752655+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GUCA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9425234, 15953638, 11146732, 28125083; Phenotypes: Cone dystrophy-3, MIM# 602093, Cone-rod dystrophy 14, MIM# 602093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T18:00:40.604024+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14058","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GUCA1A as ready","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T18:00:40.592548+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14058","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: guca1a has been classified as Green List (High Evidence).","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T18:00:30.812355+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14058","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GUCA1A were changed from  to Cone dystrophy-3, MIM# 602093; Cone-rod dystrophy 14, MIM# 602093","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T18:00:10.650526+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14057","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GUCA1A were set to ","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T17:59:47.977946+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14056","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GUCA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T17:59:18.240590+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14055","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GUCA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9425234, 15953638, 11146732, 28125083; Phenotypes: Cone dystrophy-3, MIM# 602093, Cone-rod dystrophy 14, MIM# 602093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GUCA1A","entity_type":"gene"},{"created":"2022-05-10T17:41:48.017547+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14055","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ASB10 were set to PMID: 26713451; 22156576","entity_name":"ASB10","entity_type":"gene"},{"created":"2022-05-10T17:41:42.238076+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14055","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ASB10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ASB10","entity_type":"gene"},{"created":"2022-05-10T17:38:41.612622+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14054","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ASB10 were set to ","entity_name":"ASB10","entity_type":"gene"},{"created":"2022-05-10T17:38:38.521990+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14054","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ASB10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ASB10","entity_type":"gene"},{"created":"2022-05-10T17:38:35.793527+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14055","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ASB10 were changed from  to Glaucoma 1, open angle, F MIM#603383","entity_name":"ASB10","entity_type":"gene"},{"created":"2022-05-10T17:38:25.816765+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14054","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ASB10 as ready","entity_name":"ASB10","entity_type":"gene"},{"created":"2022-05-10T17:38:25.805365+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14054","user_name":"Elena Savva","item_type":"entity","text":"Gene: asb10 has been classified as Red List (Low Evidence).","entity_name":"ASB10","entity_type":"gene"},{"created":"2022-05-10T17:38:17.876728+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14054","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ASB10 as Red List (low evidence)","entity_name":"ASB10","entity_type":"gene"},{"created":"2022-05-10T17:38:17.811969+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14054","user_name":"Elena Savva","item_type":"entity","text":"Gene: asb10 has been classified as Red List (Low Evidence).","entity_name":"ASB10","entity_type":"gene"},{"created":"2022-05-10T17:37:44.141550+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14053","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ASB10: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26713451, 22156576; Phenotypes: Glaucoma 1, open angle, F MIM#603383; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ASB10","entity_type":"gene"},{"created":"2022-05-10T17:32:20.704497+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14053","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FKRP as ready","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-05-10T17:32:20.693024+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14053","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fkrp has been classified as Green List (High Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-05-10T17:31:24.824398+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14053","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FKRP were changed from  to Muscular dystrophy-dystroglycanopathy MONDO:0018276","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-05-10T17:29:55.557442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14052","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FKRP were set to ","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-05-10T17:27:56.759253+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14051","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-05-10T17:27:41.670075+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14050","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ART4 were changed from {Macular degeneration, age-related, 8} MIM#613778 to {Macular degeneration, age-related, 8} MIM#613778","entity_name":"ART4","entity_type":"gene"},{"created":"2022-05-10T17:27:35.778854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14050","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ART4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ART4","entity_type":"gene"},{"created":"2022-05-10T17:26:37.301226+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14049","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 11592034, 11741828, 14647208, 19299310, 19155270; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FKRP","entity_type":"gene"},{"created":"2022-05-10T17:25:31.416566+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14049","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ART4 were changed from  to {Macular degeneration, age-related, 8} MIM#613778","entity_name":"ART4","entity_type":"gene"},{"created":"2022-05-10T17:25:17.984655+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14048","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ART4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ART4","entity_type":"gene"},{"created":"2022-05-10T17:25:15.282858+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14048","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ART4 as ready","entity_name":"ART4","entity_type":"gene"},{"created":"2022-05-10T17:25:15.271659+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14048","user_name":"Elena Savva","item_type":"entity","text":"Gene: art4 has been classified as Amber List (Moderate Evidence).","entity_name":"ART4","entity_type":"gene"},{"created":"2022-05-10T17:25:14.955307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14048","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ART4 were set to ","entity_name":"ART4","entity_type":"gene"},{"created":"2022-05-10T17:25:07.621025+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14048","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ART4 as Amber List (moderate evidence)","entity_name":"ART4","entity_type":"gene"},{"created":"2022-05-10T17:25:07.608173+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14048","user_name":"Elena Savva","item_type":"entity","text":"Gene: art4 has been classified as Amber List (Moderate Evidence).","entity_name":"ART4","entity_type":"gene"},{"created":"2022-05-10T17:24:35.850912+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14047","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ART4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33675039, 33206405; Phenotypes: {Macular degeneration, age-related, 8} MIM#613778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ART4","entity_type":"gene"},{"created":"2022-05-10T17:22:47.780365+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14047","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FHL1 as ready","entity_name":"FHL1","entity_type":"gene"},{"created":"2022-05-10T17:22:47.768969+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14047","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fhl1 has been classified as Green List (High Evidence).","entity_name":"FHL1","entity_type":"gene"},{"created":"2022-05-10T17:21:27.291177+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14047","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FHL1 were changed from  to Reducing body myopathy MONDO:0019948; X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680","entity_name":"FHL1","entity_type":"gene"},{"created":"2022-05-10T17:19:42.327726+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14046","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ASPA were changed from  to Canavan disease MIM#271900; disorder of amino acid metabolism","entity_name":"ASPA","entity_type":"gene"},{"created":"2022-05-10T17:19:35.585988+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14045","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ASPA as ready","entity_name":"ASPA","entity_type":"gene"},{"created":"2022-05-10T17:19:35.576224+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14045","user_name":"Elena Savva","item_type":"entity","text":"Gene: aspa has been classified as Green List (High Evidence).","entity_name":"ASPA","entity_type":"gene"},{"created":"2022-05-10T17:19:34.449214+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14045","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ASPA were set to ","entity_name":"ASPA","entity_type":"gene"},{"created":"2022-05-10T17:19:30.782587+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14045","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ASPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ASPA","entity_type":"gene"},{"created":"2022-05-10T17:19:05.847013+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14044","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ASPA","entity_type":"gene"},{"created":"2022-05-10T17:14:10.395978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14044","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ARMS2 were changed from {Macular degeneration, age-related, 8} MIM#613778 to {Macular degeneration, age-related, 8} MIM#613778","entity_name":"ARMS2","entity_type":"gene"},{"created":"2022-05-10T17:13:47.259881+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14043","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FHL1 were set to ","entity_name":"FHL1","entity_type":"gene"},{"created":"2022-05-10T17:11:09.192727+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14042","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FHL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"FHL1","entity_type":"gene"},{"created":"2022-05-10T17:10:47.901332+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14041","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ASH1L were changed from Mental retardation, autosomal dominant 52, MIM#617796 to Mental retardation, autosomal dominant 52, MIM#617796","entity_name":"ASH1L","entity_type":"gene"},{"created":"2022-05-10T17:10:36.764668+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14041","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ASH1L were set to 23033978; 25961944; 28394464; 28191889; 27824329","entity_name":"ASH1L","entity_type":"gene"},{"created":"2022-05-10T17:10:35.784295+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14040","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ARMS2 were changed from  to {Macular degeneration, age-related, 8} MIM#613778","entity_name":"ARMS2","entity_type":"gene"},{"created":"2022-05-10T17:10:24.313516+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14040","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ARMS2 as Red List (low evidence)","entity_name":"ARMS2","entity_type":"gene"},{"created":"2022-05-10T17:10:24.282315+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14040","user_name":"Elena Savva","item_type":"entity","text":"Gene: arms2 has been classified as Red List (Low Evidence).","entity_name":"ARMS2","entity_type":"gene"},{"created":"2022-05-10T17:10:23.729099+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14039","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ARMS2 as ready","entity_name":"ARMS2","entity_type":"gene"},{"created":"2022-05-10T17:10:23.715996+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14039","user_name":"Elena Savva","item_type":"entity","text":"Gene: arms2 has been classified as Green List (High Evidence).","entity_name":"ARMS2","entity_type":"gene"},{"created":"2022-05-10T17:08:10.086699+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14039","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716112, 20186852, 20301609, 18179901, 25274776, 34366191, 18274675, 19181672; Phenotypes: Reducing body myopathy MONDO:0019948, X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"FHL1","entity_type":"gene"},{"created":"2022-05-10T17:02:23.371442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14039","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ASH1L were changed from  to Mental retardation, autosomal dominant 52, MIM#617796","entity_name":"ASH1L","entity_type":"gene"},{"created":"2022-05-10T17:02:10.281505+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14038","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ASH1L were set to ","entity_name":"ASH1L","entity_type":"gene"},{"created":"2022-05-10T17:02:07.056103+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14038","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ASH1L as ready","entity_name":"ASH1L","entity_type":"gene"},{"created":"2022-05-10T17:02:07.041438+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14038","user_name":"Elena Savva","item_type":"entity","text":"Gene: ash1l has been classified as Green List (High Evidence).","entity_name":"ASH1L","entity_type":"gene"},{"created":"2022-05-10T17:02:02.321637+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14038","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ASH1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ASH1L","entity_type":"gene"},{"created":"2022-05-10T17:01:45.673704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14037","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ARMS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Macular degeneration, age-related, 8} MIM#613778; Mode of inheritance: Unknown","entity_name":"ARMS2","entity_type":"gene"},{"created":"2022-05-10T16:42:39.938326+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14037","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ARL2BP were set to PMID: 23849777; 27790702; 29718757","entity_name":"ARL2BP","entity_type":"gene"},{"created":"2022-05-10T16:42:14.005627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14036","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ARL2BP were set to ","entity_name":"ARL2BP","entity_type":"gene"},{"created":"2022-05-10T16:42:08.790317+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14035","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ARL2BP as ready","entity_name":"ARL2BP","entity_type":"gene"},{"created":"2022-05-10T16:42:08.757074+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14035","user_name":"Elena Savva","item_type":"entity","text":"Gene: arl2bp has been classified as Green List (High Evidence).","entity_name":"ARL2BP","entity_type":"gene"},{"created":"2022-05-10T16:28:12.550992+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14035","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ARL2BP were changed from  to Retinitis pigmentosa with or without situs inversus MIM#615434","entity_name":"ARL2BP","entity_type":"gene"},{"created":"2022-05-10T16:28:00.684996+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14035","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ARL2BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARL2BP","entity_type":"gene"},{"created":"2022-05-10T16:24:43.957628+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14034","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa with or without situs inversus MIM#615434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARL2BP","entity_type":"gene"},{"created":"2022-05-10T15:43:57.715097+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14034","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FH as ready","entity_name":"FH","entity_type":"gene"},{"created":"2022-05-10T15:43:57.705558+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14034","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2022-05-10T15:15:32.107278+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14034","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FH were changed from  to hereditary leiomyomatosis and renal cell cancer MONDO:0007888; fumaric aciduria MONDO:0011730","entity_name":"FH","entity_type":"gene"},{"created":"2022-05-10T15:13:47.938262+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14033","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FH were set to ","entity_name":"FH","entity_type":"gene"},{"created":"2022-05-10T15:12:27.436227+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14032","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FH","entity_type":"gene"},{"created":"2022-05-10T15:09:10.771868+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14031","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Well established gene-disease associations. Loss of function is the mechanism of disease. Monoallelic variants associated with decreased fumarate hydratase enzyme activity cause FH tumour predisposition syndrome (also known as HLRCC; PMID: 11865300, 28300276). FH deficiency (also known as fumarase deficiency or fumaric aciduria) caused by biallelic variants results in severe neonatal and early infantile encephalopathy (PMID: 8200987, 20549362, 31746132). FH encodes for both mitochondrial and cytosolic FH enzyme isoforms, which catalyze hydration of fumarate to malate.; to: Well established gene-disease associations. Loss of function is the mechanism of disease. Monoallelic variants associated with decreased fumarate hydratase enzyme activity cause FH tumour predisposition syndrome (also known as HLRCC; PMID: 11865300, 28300276, 20301430). FH deficiency (also known as fumarase deficiency or fumaric aciduria) caused by biallelic variants results in severe neonatal and early infantile encephalopathy (PMID: 8200987, 20549362, 31746132, 20301679). FH encodes for both mitochondrial and cytosolic FH enzyme isoforms, which catalyze hydration of fumarate to malate.","entity_name":"FH","entity_type":"gene"},{"created":"2022-05-10T14:59:18.298945+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14031","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: FH: Changed publications: 11865300, 28300276, 20301430, 8200987, 20549362, 31746132, 20301679","entity_name":"FH","entity_type":"gene"},{"created":"2022-05-10T14:31:32.124167+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14031","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11865300, 28300276, 8200987, 20549362, 31746132; Phenotypes: hereditary leiomyomatosis and renal cell cancer MONDO:0007888, fumaric aciduria MONDO:0011730; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FH","entity_type":"gene"},{"created":"2022-05-10T14:20:47.776185+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14031","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ARID1B were changed from  to Coffin-Siris syndrome 1 MIM#135900","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-05-10T14:20:33.262852+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14030","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ARID1B as ready","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-05-10T14:20:33.249837+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14030","user_name":"Elena Savva","item_type":"entity","text":"Gene: arid1b has been classified as Green List (High Evidence).","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-05-10T14:20:30.888930+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14030","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ARID1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-05-10T14:20:09.374022+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14029","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1 MIM#135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-05-10T14:10:08.945724+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14029","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FGG as ready","entity_name":"FGG","entity_type":"gene"},{"created":"2022-05-10T14:10:08.931197+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14029","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fgg has been classified as Green List (High Evidence).","entity_name":"FGG","entity_type":"gene"},{"created":"2022-05-10T14:08:29.910992+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14029","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FGG were changed from  to congenital fibrinogen deficiency MONDO:0018060","entity_name":"FGG","entity_type":"gene"},{"created":"2022-05-10T14:05:57.290107+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14028","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FGG were set to ","entity_name":"FGG","entity_type":"gene"},{"created":"2022-05-10T14:04:16.673795+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14027","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ARHGDIA were changed from Nephrotic syndrome, type 8 MIM#615244 to Nephrotic syndrome, type 8 MIM#615244","entity_name":"ARHGDIA","entity_type":"gene"},{"created":"2022-05-10T14:04:08.297879+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14026","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: ARHGDIA were set to PMID: 23867502; 35060086","entity_name":"ARHGDIA","entity_type":"gene"},{"created":"2022-05-10T14:03:56.522536+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14026","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: ARHGDIA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARHGDIA","entity_type":"gene"}]}