{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1746","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1744","results":[{"created":"2020-07-03T20:36:06.305651+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRAS: Changed rating: GREEN; Changed publications: 28289718, 31173466, 31108500","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-07-03T20:31:43.531230+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3222","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRAS was added\ngene: MRAS was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MRAS were set to 28289718\nPhenotypes for gene: MRAS were set to Noonan syndrome\nReview for gene: MRAS was set to AMBER\nAdded comment: Two unrelated individuals reported with de novo variants in this gene. Rated as LIMITED by ClinGen. \nSources: Expert list","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-07-03T20:31:40.879404+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRAS as ready","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-07-03T20:31:40.866999+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mras has been classified as Amber List (Moderate Evidence).","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-07-03T20:31:12.618767+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MRAS as Amber List (moderate evidence)","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-07-03T20:31:12.609663+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mras has been classified as Amber List (Moderate Evidence).","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-07-03T20:30:03.640933+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRAS was added\ngene: MRAS was added to Rasopathy. Sources: Expert list\nMode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MRAS were set to 28289718\nPhenotypes for gene: MRAS were set to Noonan syndrome\nReview for gene: MRAS was set to AMBER\nAdded comment: Two unrelated individuals reported with de novo variants in this gene. Rated as LIMITED by ClinGen. \nSources: Expert list","entity_name":"MRAS","entity_type":"gene"},{"created":"2020-07-03T20:12:49.327218+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRAS as ready","entity_name":"RRAS","entity_type":"gene"},{"created":"2020-07-03T20:12:49.317301+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rras has been classified as Amber List (Moderate Evidence).","entity_name":"RRAS","entity_type":"gene"},{"created":"2020-07-03T20:11:59.508597+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RRAS were changed from  to Noonan syndrome","entity_name":"RRAS","entity_type":"gene"},{"created":"2020-07-03T20:11:36.712153+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RRAS were set to ","entity_name":"RRAS","entity_type":"gene"},{"created":"2020-07-03T20:11:11.404408+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RRAS","entity_type":"gene"},{"created":"2020-07-03T20:10:27.290739+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RRAS as Amber List (moderate evidence)","entity_name":"RRAS","entity_type":"gene"},{"created":"2020-07-03T20:10:27.276874+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rras has been classified as Amber List (Moderate Evidence).","entity_name":"RRAS","entity_type":"gene"},{"created":"2020-07-03T20:09:57.240195+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: None; Publications: 24705357; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RRAS","entity_type":"gene"},{"created":"2020-07-03T20:06:29.296307+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-07-03T20:06:10.508957+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3221","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: A2ML1 as ready","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:06:10.498003+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a2ml1 has been classified as Red List (Low Evidence).","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:05:39.360390+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3221","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: A2ML1 were changed from  to Noonan syndrome","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:05:17.978702+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3220","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: A2ML1 were set to ","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:04:52.882607+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3219","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: A2ML1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:04:32.388075+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3218","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: A2ML1 as Red List (low evidence)","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:04:32.379167+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3218","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a2ml1 has been classified as Red List (Low Evidence).","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:04:10.226000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3217","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: A2ML1: Rating: RED; Mode of pathogenicity: None; Publications: 24939586, 25862627; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:02:11.102631+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: A2ML1 as ready","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:02:11.087899+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a2ml1 has been classified as Red List (Low Evidence).","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:02:07.822035+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: A2ML1 were changed from  to Noonan syndrome","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:01:42.483430+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: A2ML1 were set to ","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:01:11.673289+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: A2ML1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:00:48.251555+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: A2ML1 as Red List (low evidence)","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:00:48.241800+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a2ml1 has been classified as Red List (Low Evidence).","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:00:27.392728+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: A2ML1 as Red List (low evidence)","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:00:27.370916+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a2ml1 has been classified as Red List (Low Evidence).","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:00:06.061868+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: A2ML1 as Red List (low evidence)","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T20:00:06.022273+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a2ml1 has been classified as Red List (Low Evidence).","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:59:36.883617+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: A2ML1: Rating: RED; Mode of pathogenicity: None; Publications: 24939586, 25862627; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:58:42.999649+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: A2ML1 as ready","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:58:42.990060+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a2ml1 has been classified as Red List (Low Evidence).","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:58:40.641738+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: A2ML1 were changed from  to Noonan syndrome","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:58:14.252973+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: A2ML1 were set to ","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:57:43.173940+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: A2ML1: Changed publications: 24939586, 25862627","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:57:26.065981+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: A2ML1: Changed publications: 24939586","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:57:16.240150+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: A2ML1 as Red List (low evidence)","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:57:16.231298+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a2ml1 has been classified as Red List (Low Evidence).","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:56:47.101531+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: A2ML1.","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:56:17.144965+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: A2ML1: Changed rating: RED","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:56:11.357205+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated individuals reported with de novo missense variants in this gene, zebrafish model.; to: Four unrelated individuals reported with de novo missense variants in this gene, zebrafish model. However, p.Arg802His is present in 168 heterozygotes in gnomad and one homozygote;  p.Arg802Leu is also present in 168 heterozygotes, 1 homozygote; and p.Arg592Leu is present in 105 heterozygotes. Rated as DISPUTED by ClinGen.","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:52:14.394003+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: A2ML1: Changed rating: AMBER; Changed publications: 25862627","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:51:03.265172+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: A2ML1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T19:50:32.190751+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: A2ML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24939586; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"A2ML1","entity_type":"gene"},{"created":"2020-07-03T18:33:59.343175+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTB as ready","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-07-03T18:33:59.329352+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actb has been classified as Green List (High Evidence).","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-07-03T18:33:56.168211+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTB were changed from  to Baraitser-Winter syndrome 1, MIM# 243310","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-07-03T18:33:21.954128+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-07-03T18:32:27.823993+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTG1 as ready","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-07-03T18:32:27.811341+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actg1 has been classified as Green List (High Evidence).","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-07-03T18:32:24.841366+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTG1 were changed from  to Baraitser-Winter syndrome 2, MIM# 614583","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-07-03T18:31:56.577599+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-07-03T18:30:48.940777+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MASP1 as ready","entity_name":"MASP1","entity_type":"gene"},{"created":"2020-07-03T18:30:48.924805+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: masp1 has been classified as Green List (High Evidence).","entity_name":"MASP1","entity_type":"gene"},{"created":"2020-07-03T18:27:21.331369+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SKI as ready","entity_name":"SKI","entity_type":"gene"},{"created":"2020-07-03T18:27:21.317499+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ski has been classified as Green List (High Evidence).","entity_name":"SKI","entity_type":"gene"},{"created":"2020-07-03T18:25:58.050531+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TLK2 as ready","entity_name":"TLK2","entity_type":"gene"},{"created":"2020-07-03T18:25:58.040223+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlk2 has been classified as Amber List (Moderate Evidence).","entity_name":"TLK2","entity_type":"gene"},{"created":"2020-07-03T18:25:55.810777+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TLK2 were changed from  to Mental retardation, autosomal dominant 57, MIM#618050","entity_name":"TLK2","entity_type":"gene"},{"created":"2020-07-03T18:25:32.663880+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TLK2 were set to ","entity_name":"TLK2","entity_type":"gene"},{"created":"2020-07-03T18:25:06.638162+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TLK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TLK2","entity_type":"gene"},{"created":"2020-07-03T18:24:40.769684+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TLK2 as Amber List (moderate evidence)","entity_name":"TLK2","entity_type":"gene"},{"created":"2020-07-03T18:24:40.760458+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlk2 has been classified as Amber List (Moderate Evidence).","entity_name":"TLK2","entity_type":"gene"},{"created":"2020-07-03T17:19:33.921384+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: TMEM70: Changed rating: AMBER","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-07-03T17:19:25.605662+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM70 was added\ngene: TMEM70 was added to Gastrointestinal neuromuscular disease. Sources: NHS GMS\nMode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM70 were set to 21147908\nPhenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052\nReview for gene: TMEM70 was set to RED\nAdded comment: Intestinal pseudo-obstruction reported in one case and delayed gastric emptying reported in another case. Gastrointestinal neuromuscular disease does not appear to be a prominent feature of the condition. \nSources: NHS GMS","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-07-03T16:38:49.541780+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATRX as ready","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-03T16:38:49.522213+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atrx has been classified as Green List (High Evidence).","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-03T16:38:44.653364+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATRX as Green List (high evidence)","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-03T16:38:44.644073+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atrx has been classified as Green List (High Evidence).","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-03T16:38:37.632058+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATRX was added\ngene: ATRX was added to Gastrointestinal neuromuscular disease. Sources: NHS GMS\nMode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ATRX were set to 16688741\nPhenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome MIM#301040\nReview for gene: ATRX was set to GREEN\nAdded comment: Gastrointestinal problems can be a prominent feature of the condition. \nSources: NHS GMS","entity_name":"ATRX","entity_type":"gene"},{"created":"2020-07-03T16:06:20.304598+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LMOD1 as ready","entity_name":"LMOD1","entity_type":"gene"},{"created":"2020-07-03T16:06:20.294327+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lmod1 has been classified as Amber List (Moderate Evidence).","entity_name":"LMOD1","entity_type":"gene"},{"created":"2020-07-03T16:06:13.837247+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28292896; Phenotypes: Megacystis microcolon intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LMOD1","entity_type":"gene"},{"created":"2020-07-03T16:03:26.669398+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MYL9 as ready","entity_name":"MYL9","entity_type":"gene"},{"created":"2020-07-03T16:03:26.659791+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: myl9 has been classified as Red List (Low Evidence).","entity_name":"MYL9","entity_type":"gene"},{"created":"2020-07-03T16:03:19.917017+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MYL9 was added\ngene: MYL9 was added to Gastrointestinal neuromuscular disease. Sources: Literature\nMode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYL9 were set to 29453416\nPhenotypes for gene: MYL9 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome\nReview for gene: MYL9 was set to RED\nAdded comment: Single consanguineous family reported with a homozygous deletion including the last exon of the gene. No functional evidence. \nSources: Literature","entity_name":"MYL9","entity_type":"gene"},{"created":"2020-07-03T15:59:50.052352+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMCO1 as ready","entity_name":"TMCO1","entity_type":"gene"},{"created":"2020-07-03T15:59:50.040907+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmco1 has been classified as Amber List (Moderate Evidence).","entity_name":"TMCO1","entity_type":"gene"},{"created":"2020-07-03T15:59:45.773420+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMCO1 as Amber List (moderate evidence)","entity_name":"TMCO1","entity_type":"gene"},{"created":"2020-07-03T15:59:45.764544+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmco1 has been classified as Amber List (Moderate Evidence).","entity_name":"TMCO1","entity_type":"gene"},{"created":"2020-07-03T15:59:17.039500+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMCO1 was added\ngene: TMCO1 was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMCO1 were set to 20018682; 24424126; 24194475\nPhenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM#\t213980\nReview for gene: TMCO1 was set to AMBER\nAdded comment: Craniosynostosis reported in a small number of affected individuals, also note founder mutation in Amish. \nSources: Expert list","entity_name":"TMCO1","entity_type":"gene"},{"created":"2020-07-03T15:56:10.076903+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFAP2B as ready","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2020-07-03T15:56:10.067036+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfap2b has been classified as Green List (High Evidence).","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2020-07-03T15:56:06.422038+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TFAP2B as Green List (high evidence)","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2020-07-03T15:56:06.412808+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfap2b has been classified as Green List (High Evidence).","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2020-07-03T15:55:36.994494+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TFAP2B was added\ngene: TFAP2B was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TFAP2B were set to 31292255\nPhenotypes for gene: TFAP2B were set to Syndromic craniosynostosis\nReview for gene: TFAP2B was set to GREEN\nAdded comment: Four individuals reported in PMID: 31292255 (Correction in PMID: 31405973) as part of a craniosynostosis cohort: 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent (affected parent for the other inherited variant). \nSources: Expert list","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2020-07-03T15:45:04.972192+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RET as Green List (high evidence)","entity_name":"RET","entity_type":"gene"},{"created":"2020-07-03T15:45:04.957684+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ret has been classified as Green List (High Evidence).","entity_name":"RET","entity_type":"gene"},{"created":"2020-07-03T15:41:29.157781+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SEMA3D as ready","entity_name":"SEMA3D","entity_type":"gene"},{"created":"2020-07-03T15:41:29.144517+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sema3d has been classified as Red List (Low Evidence).","entity_name":"SEMA3D","entity_type":"gene"},{"created":"2020-07-03T15:41:22.996190+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SEMA3D was added\ngene: SEMA3D was added to Gastrointestinal neuromuscular disease. Sources: Expert list\nMode of inheritance for gene: SEMA3D was set to Unknown\nPublications for gene: SEMA3D were set to 28334784; 25839327\nPhenotypes for gene: SEMA3D were set to Hirschsprung disease\nReview for gene: SEMA3D was set to RED\nAdded comment: Reported as a common susceptibility loci. No reported evidence for an association with Mendelian disease. Sema3d null heterozygote and homozygote mouse model had normal intestinal innervation. \nSources: Expert list","entity_name":"SEMA3D","entity_type":"gene"},{"created":"2020-07-03T15:31:26.101706+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: SEMA3C: Changed publications: 25839327, 31240788","entity_name":"SEMA3C","entity_type":"gene"},{"created":"2020-07-03T15:29:24.289064+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SEMA3C as ready","entity_name":"SEMA3C","entity_type":"gene"},{"created":"2020-07-03T15:29:24.276113+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sema3c has been classified as Red List (Low Evidence).","entity_name":"SEMA3C","entity_type":"gene"}]}