{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1791","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1789","results":[{"created":"2020-05-24T20:37:23.766076+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: erbb2 has been classified as Red List (Low Evidence).","entity_name":"ERBB2","entity_type":"gene"},{"created":"2020-05-24T20:37:20.605335+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERBB2 as Red List (low evidence)","entity_name":"ERBB2","entity_type":"gene"},{"created":"2020-05-24T20:37:20.590710+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: erbb2 has been classified as Red List (Low Evidence).","entity_name":"ERBB2","entity_type":"gene"},{"created":"2020-05-24T20:36:50.445158+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERBB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ERBB2","entity_type":"gene"},{"created":"2020-05-24T20:33:41.554764+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2885","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCR as ready","entity_name":"BCR","entity_type":"gene"},{"created":"2020-05-24T20:33:41.538363+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2885","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcr has been classified as Red List (Low Evidence).","entity_name":"BCR","entity_type":"gene"},{"created":"2020-05-24T20:33:31.575185+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2885","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCR were changed from  to Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic 613065; Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic 608232","entity_name":"BCR","entity_type":"gene"},{"created":"2020-05-24T20:33:07.269384+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2884","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BCR as Red List (low evidence)","entity_name":"BCR","entity_type":"gene"},{"created":"2020-05-24T20:33:07.258312+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2884","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcr has been classified as Red List (Low Evidence).","entity_name":"BCR","entity_type":"gene"},{"created":"2020-05-24T20:32:44.084406+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2883","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic 613065, Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic 608232; Mode of inheritance: None","entity_name":"BCR","entity_type":"gene"},{"created":"2020-05-24T15:36:31.725634+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP19 as ready","entity_name":"CEP19","entity_type":"gene"},{"created":"2020-05-24T15:36:31.716416+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep19 has been classified as Red List (Low Evidence).","entity_name":"CEP19","entity_type":"gene"},{"created":"2020-05-24T15:36:22.817775+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP19 was added\ngene: CEP19 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP19 were set to 29127258; 24268657\nPhenotypes for gene: CEP19 were set to Bardet-Biedl syndorme\nReview for gene: CEP19 was set to RED\nAdded comment: Single family with BBS phenotype reported with a homozygous predicted loss of function variant. Has been reported in another family with a morbid obesity syndrome. \nSources: Literature","entity_name":"CEP19","entity_type":"gene"},{"created":"2020-05-24T14:35:29.038379+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP19 as ready","entity_name":"CEP19","entity_type":"gene"},{"created":"2020-05-24T14:35:29.028780+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep19 has been classified as Red List (Low Evidence).","entity_name":"CEP19","entity_type":"gene"},{"created":"2020-05-24T12:07:07.716017+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2883","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CEP19 as Amber List (moderate evidence)","entity_name":"CEP19","entity_type":"gene"},{"created":"2020-05-24T12:07:07.704482+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2883","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cep19 has been classified as Amber List (Moderate Evidence).","entity_name":"CEP19","entity_type":"gene"},{"created":"2020-05-24T12:06:39.202353+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2882","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CEP19 was added\ngene: CEP19 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP19 were set to 29127258; 24268657\nPhenotypes for gene: CEP19 were set to Morbid obesity and spermatogenic failure MIM#615703\nReview for gene: CEP19 was set to AMBER\nAdded comment: A consanguineous Arab family with morbid obesity and infertility with a homozygous predicted null variant, and a mouse model that recapitulates the phenotype. Another homozygous variant has been identified in a consanguineous Bardet Beidl syndrome. \nSources: Literature","entity_name":"CEP19","entity_type":"gene"},{"created":"2020-05-24T11:56:49.350846+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CEP19 was added\ngene: CEP19 was added to Bardet Biedl syndrome. Sources: Expert list\nMode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP19 were set to 29127258; 24268657\nPhenotypes for gene: CEP19 were set to Bardet Biedl syndrome\nReview for gene: CEP19 was set to RED\nAdded comment: Single family with BBS phenotype reported with a homozygous predicted loss of function variant. Has been reported in another family with a morbid obesity syndrome. \nSources: Expert list","entity_name":"CEP19","entity_type":"gene"},{"created":"2020-05-23T18:12:34.547854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2881","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DALRD3 as ready","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-05-23T18:12:34.534595+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2881","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dalrd3 has been classified as Amber List (Moderate Evidence).","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-05-23T18:12:26.304018+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2881","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DALRD3 as Amber List (moderate evidence)","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-05-23T18:12:26.295544+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2881","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dalrd3 has been classified as Amber List (Moderate Evidence).","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-05-23T18:12:08.452318+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2880","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DALRD3 was added\ngene: DALRD3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DALRD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DALRD3 were set to 32427860\nPhenotypes for gene: DALRD3 were set to Epileptic encephalopathy\nReview for gene: DALRD3 was set to AMBER\nAdded comment: Two individuals reported with same homozygous nonsense variant, functional data. \nSources: Literature","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-05-23T18:10:27.245028+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.713","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DALRD3 as ready","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-05-23T18:10:27.229604+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.713","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dalrd3 has been classified as Amber List (Moderate Evidence).","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-05-23T18:10:22.732334+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.713","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DALRD3 as Amber List (moderate evidence)","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-05-23T18:10:22.723721+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.713","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dalrd3 has been classified as Amber List (Moderate Evidence).","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-05-23T18:09:46.211060+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.712","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DALRD3 was added\ngene: DALRD3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DALRD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DALRD3 were set to 32427860\nPhenotypes for gene: DALRD3 were set to Epileptic encephalopathy\nReview for gene: DALRD3 was set to AMBER\nAdded comment: Two individuals reported with same homozygous nonsense variant, functional data. \nSources: Literature","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-05-22T20:35:41.308947+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2879","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF3 as ready","entity_name":"GDF3","entity_type":"gene"},{"created":"2020-05-22T20:35:41.297508+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2879","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf3 has been classified as Red List (Low Evidence).","entity_name":"GDF3","entity_type":"gene"},{"created":"2020-05-22T20:35:31.340471+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2879","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDF3 were changed from  to Microphthalmia with coloboma 6, MIM# 613703; Microphthalmia, isolated 7, MIM# 613704","entity_name":"GDF3","entity_type":"gene"},{"created":"2020-05-22T20:35:03.194203+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2878","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GDF3 were set to ","entity_name":"GDF3","entity_type":"gene"},{"created":"2020-05-22T20:34:40.452169+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2877","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDF3 as Red List (low evidence)","entity_name":"GDF3","entity_type":"gene"},{"created":"2020-05-22T20:34:40.439843+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2877","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf3 has been classified as Red List (Low Evidence).","entity_name":"GDF3","entity_type":"gene"},{"created":"2020-05-22T20:34:03.533579+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2876","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: None; Publications: 19864492; Phenotypes: Microphthalmia with coloboma 6 613703, Microphthalmia, isolated 7 613704; Mode of inheritance: None","entity_name":"GDF3","entity_type":"gene"},{"created":"2020-05-22T20:27:21.745144+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX6 as ready","entity_name":"PAX6","entity_type":"gene"},{"created":"2020-05-22T20:27:21.736787+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax6 has been classified as Amber List (Moderate Evidence).","entity_name":"PAX6","entity_type":"gene"},{"created":"2020-05-22T20:27:18.971742+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX6 were changed from  to ?Coloboma of optic nerve MIM# 120430; ?Coloboma, ocular MIM# 120200; ?Morning glory disc anomaly MIM# 120430; Aniridia MIM# 106210; Anterior segment dysgenesis 5, multiple subtypes MIM# 604229; Cataract with late-onset corneal dystrophy MIM# 106210; Foveal hypoplasia 1 MIM# 136520; Keratitis MIM# 148190; Optic nerve hypoplasia MIM# 165550","entity_name":"PAX6","entity_type":"gene"},{"created":"2020-05-22T20:26:49.377868+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAX6 were set to ","entity_name":"PAX6","entity_type":"gene"},{"created":"2020-05-22T20:26:20.739178+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX6","entity_type":"gene"},{"created":"2020-05-22T20:25:53.405590+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAX6 as Amber List (moderate evidence)","entity_name":"PAX6","entity_type":"gene"},{"created":"2020-05-22T20:25:53.394917+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax6 has been classified as Amber List (Moderate Evidence).","entity_name":"PAX6","entity_type":"gene"},{"created":"2020-05-22T20:25:00.662444+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VSX2 as ready","entity_name":"VSX2","entity_type":"gene"},{"created":"2020-05-22T20:25:00.653840+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vsx2 has been classified as Red List (Low Evidence).","entity_name":"VSX2","entity_type":"gene"},{"created":"2020-05-22T20:24:21.106029+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP45 as ready","entity_name":"USP45","entity_type":"gene"},{"created":"2020-05-22T20:24:21.097175+10:00","panel_name":"Autosomal Recessive/X-Linked Retinitis Pigmentosa","panel_id":277,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp45 has been classified as Green List (High Evidence).","entity_name":"USP45","entity_type":"gene"},{"created":"2020-05-22T20:23:11.899582+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NHEJ1 as ready","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2020-05-22T20:23:11.888122+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhej1 has been classified as Amber List (Moderate Evidence).","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2020-05-22T20:23:08.443612+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NHEJ1 were changed from  to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MIM# 611291)","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2020-05-22T20:22:40.408475+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NHEJ1 were set to ","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2020-05-22T20:22:11.779600+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NHEJ1 as Amber List (moderate evidence)","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2020-05-22T20:22:11.768764+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhej1 has been classified as Amber List (Moderate Evidence).","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2020-05-22T20:21:05.659339+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TEAD1 as ready","entity_name":"TEAD1","entity_type":"gene"},{"created":"2020-05-22T20:21:05.650588+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tead1 has been classified as Amber List (Moderate Evidence).","entity_name":"TEAD1","entity_type":"gene"},{"created":"2020-05-22T20:20:30.603142+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA2 as ready","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-05-22T20:20:30.593908+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama2 has been classified as Green List (High Evidence).","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-05-22T20:02:32.217359+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA2 were changed from  to LAMA2-related muscular dystrophy","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-05-22T20:02:03.320022+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMA2 were set to ","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-05-22T20:01:39.768050+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-05-22T20:00:34.451234+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2876","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRAS as ready","entity_name":"KRAS","entity_type":"gene"},{"created":"2020-05-22T20:00:34.437841+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2876","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kras has been classified as Green List (High Evidence).","entity_name":"KRAS","entity_type":"gene"},{"created":"2020-05-22T20:00:07.729038+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2876","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRAS were changed from  to Cardiofaciocutaneous syndrome 2 615278; Noonan syndrome 3 609942; RAS-associated autoimmune leukoproliferative disorder 614470; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200","entity_name":"KRAS","entity_type":"gene"},{"created":"2020-05-22T19:57:56.687974+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2875","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRAS were set to ","entity_name":"KRAS","entity_type":"gene"},{"created":"2020-05-22T19:57:35.400619+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2874","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KRAS was changed from  to Other","entity_name":"KRAS","entity_type":"gene"},{"created":"2020-05-22T19:57:16.576914+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2873","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRAS","entity_type":"gene"},{"created":"2020-05-22T19:55:22.924738+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A6 as ready","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2020-05-22T19:55:22.915900+10:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a6 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2020-05-22T19:54:40.193334+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2872","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAA as ready","entity_name":"GAA","entity_type":"gene"},{"created":"2020-05-22T19:54:40.184858+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2872","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gaa has been classified as Green List (High Evidence).","entity_name":"GAA","entity_type":"gene"},{"created":"2020-05-22T19:54:28.350502+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2872","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GAA were changed from  to Glycogen storage disease II, MIM# 232300","entity_name":"GAA","entity_type":"gene"},{"created":"2020-05-22T19:54:01.769198+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2871","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAA","entity_type":"gene"},{"created":"2020-05-22T19:53:17.391878+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2870","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HEXA as ready","entity_name":"HEXA","entity_type":"gene"},{"created":"2020-05-22T19:53:17.380920+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2870","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hexa has been classified as Green List (High Evidence).","entity_name":"HEXA","entity_type":"gene"},{"created":"2020-05-22T19:53:05.117843+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2870","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HEXA were changed from  to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800","entity_name":"HEXA","entity_type":"gene"},{"created":"2020-05-22T19:52:35.831402+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2869","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HEXA were set to ","entity_name":"HEXA","entity_type":"gene"},{"created":"2020-05-22T19:52:12.991195+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2868","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HEXA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HEXA","entity_type":"gene"},{"created":"2020-05-22T19:51:38.445673+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.711","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHX30 as ready","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:51:38.436353+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.711","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhx30 has been classified as Green List (High Evidence).","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:51:35.550740+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.711","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHX30 were changed from  to Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:51:04.825591+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.710","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHX30 were set to ","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:50:35.187311+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.709","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHX30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:49:58.091497+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.708","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100085; Phenotypes: Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:49:05.113312+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2649","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHX30 as ready","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:49:05.103757+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2649","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhx30 has been classified as Green List (High Evidence).","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:49:00.414838+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2649","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHX30 were changed from  to Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:48:25.184352+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2648","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHX30 were set to ","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:47:50.847336+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2647","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHX30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:47:10.920641+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2646","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100085; Phenotypes: Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:45:43.993597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2867","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHX30 as ready","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:45:43.988424+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2867","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Twelve unrelated individuals reported with de novo missense variants, some recurrent.","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:45:43.950407+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2867","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhx30 has been classified as Green List (High Evidence).","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:44:26.477626+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2867","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHX30 were changed from  to Neurodevelopmental disorder with severe motor impairment and absent language, 617804","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:44:06.047801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2866","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHX30 were set to ","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:43:34.009885+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2865","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHX30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DHX30","entity_type":"gene"},{"created":"2020-05-22T19:43:00.192948+10:00","panel_name":"Foveal Hypoplasia","panel_id":3150,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX6 as ready","entity_name":"PAX6","entity_type":"gene"},{"created":"2020-05-22T19:43:00.180032+10:00","panel_name":"Foveal Hypoplasia","panel_id":3150,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax6 has been classified as Green List (High Evidence).","entity_name":"PAX6","entity_type":"gene"},{"created":"2020-05-22T19:42:29.673711+10:00","panel_name":"Foveal Hypoplasia","panel_id":3150,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC38A8 as ready","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-05-22T19:42:29.661832+10:00","panel_name":"Foveal Hypoplasia","panel_id":3150,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc38a8 has been classified as Green List (High Evidence).","entity_name":"SLC38A8","entity_type":"gene"},{"created":"2020-05-22T19:41:08.715605+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAT1 as ready","entity_name":"FAT1","entity_type":"gene"}]}