{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1305","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1303","results":[{"created":"2021-06-07T09:50:30.144406+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1110","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:48:40.833690+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: ZEB2.","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:48:34.637394+10:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome (MIM#235730) to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:47:51.587147+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: ZEB2.","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:47:42.630872+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZEB2 as ready","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:47:42.620698+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zeb2 has been classified as Green List (High Evidence).","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:47:39.965970+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from  to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:47:09.834778+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.297","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZEB2 were set to ","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:46:42.680103+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:46:16.912968+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:44:54.283221+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZEB2 as ready","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:44:54.273819+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zeb2 has been classified as Green List (High Evidence).","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:44:51.099294+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from  to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:44:21.316268+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZEB2 were set to ","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:43:51.553209+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:43:29.673906+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: ZEB2.","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:43:20.748756+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-06T20:58:18.517342+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UBE3A as ready","entity_name":"UBE3A","entity_type":"gene"},{"created":"2021-06-06T20:58:18.507156+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ube3a has been classified as Green List (High Evidence).","entity_name":"UBE3A","entity_type":"gene"},{"created":"2021-06-06T20:57:27.789413+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3840","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC9A6 as ready","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:57:27.778453+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3840","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a6 has been classified as Green List (High Evidence).","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:57:23.367664+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3840","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC9A6 were changed from  to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:56:57.074811+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3839","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC9A6 were set to ","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:56:24.090199+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3838","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:55:55.559778+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3837","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:55:14.958979+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1110","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC9A6 as ready","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:55:14.947178+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a6 has been classified as Green List (High Evidence).","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:55:11.186878+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1110","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC9A6 were changed from  to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:54:37.681886+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1109","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC9A6 were set to ","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:54:01.491674+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1108","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:53:30.933106+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1107","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:52:45.195602+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7881","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC9A6 as ready","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:52:45.184404+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7881","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a6 has been classified as Green List (High Evidence).","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:52:41.588944+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC9A6 as ready","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:52:41.578936+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a6 has been classified as Green List (High Evidence).","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:52:38.805749+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC9A6 were changed from  to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:52:30.763648+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7881","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC9A6 were changed from  to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:52:02.494861+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7880","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC9A6 were set to ","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:51:42.231189+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7879","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:51:23.080476+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7878","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:51:13.964763+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC9A6 were set to ","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:50:47.721487+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T20:50:18.788312+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-06-06T19:27:22.935051+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7878","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPL3L were changed from Neonatal dilated cardiomyopathy to Cardiomyopathy, dilated, 2D, MIM# 619371; Neonatal dilated cardiomyopathy","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-06-06T19:27:03.357918+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7877","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 2D, MIM# 619371, Neonatal dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-06-06T19:26:29.336786+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:RPL3L from the panel","entity_name":null,"entity_type":null},{"created":"2021-06-06T19:25:59.376764+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL3L as ready","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-06-06T19:25:59.367448+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl3l has been classified as Green List (High Evidence).","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-06-06T19:25:52.211757+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL3L as Green List (high evidence)","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-06-06T19:25:52.198002+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl3l has been classified as Green List (High Evidence).","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-06-06T19:25:43.646858+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL3L was added\ngene: RPL3L was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPL3L were set to 32514796; 32870709\nPhenotypes for gene: RPL3L were set to Cardiomyopathy, dilated, 2D, MIM# 619371; Neonatal dilated cardiomyopathy\nReview for gene: RPL3L was set to GREEN\nAdded comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.\r\n\r\nPMID: 32870709 - 1 hom patient w/ neonatal DCM \nSources: Literature","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-06-06T19:23:11.473870+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 2D, MIM# 619371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-06-06T17:22:10.890369+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHANK3 as ready","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:22:10.880425+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shank3 has been classified as Green List (High Evidence).","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:22:07.757295+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:21:56.384435+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHANK3 were set to ","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:21:44.150442+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SHANK3.","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:21:33.744928+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842224, 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: None","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:20:48.314402+10:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHANK3 as ready","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:20:48.304479+10:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shank3 has been classified as Green List (High Evidence).","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:20:44.882792+10:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SHANK3.","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:20:35.453012+10:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome 606232 to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:20:26.785736+10:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHANK3 were set to ","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:20:17.730215+10:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SHANK3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:20:08.236138+10:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31319798; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:18:04.470844+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SHANK3.","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:17:49.267556+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SHANK3.","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:17:31.965125+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHANK3 as ready","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:17:31.934820+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shank3 has been classified as Green List (High Evidence).","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:17:29.740648+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHANK3 were changed from  to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:16:21.421421+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHANK3 were set to ","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:15:59.534212+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:15:26.681121+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842224, 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:14:51.722083+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHANK3 were changed from # 606232. PHELAN-MCDERMID SYNDROME - PHMDS to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:14:06.220616+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3837","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHANK3 as ready","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:14:06.209421+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3837","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shank3 has been classified as Green List (High Evidence).","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:14:01.075780+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3837","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHANK3 were changed from  to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:13:36.630505+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3836","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHANK3 were set to ","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:13:03.788882+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3835","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:12:35.822028+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3834","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SHANK3.","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:12:26.696695+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3834","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:10:39.633886+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7877","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHANK3 were set to 30842224","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:10:16.987055+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7876","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SHANK3.","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:10:06.255059+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7876","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:09:27.876830+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features.\r\n\r\nWell established gene-disease association, deletions are common.; to: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features.\r\n\r\nWell established gene-disease association, deletions are common.\r\n\r\nMultiple individuals reported in Rett-like cohorts, PMID 30842224.","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:08:58.870043+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SHANK3: Changed publications: 30842224, 16284256, 17173049, 20186804, 22892527","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:08:34.105066+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SHANK3: Changed publications: 30842224","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:08:20.385805+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7876","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome\t606232; Rett syndrome; Rett-like phenotypes to Phelan-McDermid syndrome\t606232; MONDO:0011652","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:07:53.094792+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome, MIM# 606232 to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:07:08.727351+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHANK3 as ready","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:07:08.717167+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shank3 has been classified as Green List (High Evidence).","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:07:05.513215+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SHANK3.","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:06:58.314943+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHANK3 were changed from  to Phelan-McDermid syndrome, MIM# 606232","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:06:30.999180+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHANK3 were set to ","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:06:02.560901+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T17:05:30.494704+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHANK3","entity_type":"gene"},{"created":"2021-06-06T16:58:09.894828+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SATB2 as ready","entity_name":"SATB2","entity_type":"gene"},{"created":"2021-06-06T16:58:09.884488+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: satb2 has been classified as Green List (High Evidence).","entity_name":"SATB2","entity_type":"gene"},{"created":"2021-06-06T16:58:07.665154+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SATB2 were changed from  to Glass syndrome, MIM# 612313; MONDO:0100147","entity_name":"SATB2","entity_type":"gene"},{"created":"2021-06-06T16:57:41.263955+10:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SATB2 were set to ","entity_name":"SATB2","entity_type":"gene"}]}