{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1062","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1060","results":[{"created":"2022-01-05T12:43:58.203014+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1836","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba2 has been classified as Red List (Low Evidence).","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-01-05T12:43:32.228131+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1835","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Progressive neurodegenerative condition with childhood onset rather than truly ID.; to: Progressive neurodegenerative condition with childhood onset.","entity_name":"GBA2","entity_type":"gene"},{"created":"2022-01-05T12:42:11.857709+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1835","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA as ready","entity_name":"GBA","entity_type":"gene"},{"created":"2022-01-05T12:42:11.843207+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1835","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Green List (High Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2022-01-05T12:42:05.079645+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1835","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GBA were set to 30712880","entity_name":"GBA","entity_type":"gene"},{"created":"2022-01-05T12:41:51.038236+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1834","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GBA: Changed publications: 12838552","entity_name":"GBA","entity_type":"gene"},{"created":"2022-01-05T12:41:11.571916+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1834","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBA were changed from GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE to Gaucher disease, perinatal lethal, MIM# 608013","entity_name":"GBA","entity_type":"gene"},{"created":"2022-01-05T12:40:54.987282+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"GBA","entity_type":"gene"},{"created":"2022-01-05T12:40:51.370548+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GBA: Added comment: Multiple reports of perinatal lethal cases. IUGR, hydrops, polyhydramnios, decreased fetal movements.; Changed rating: GREEN; Changed phenotypes: Gaucher disease, perinatal lethal, MIM# 608013","entity_name":"GBA","entity_type":"gene"},{"created":"2022-01-05T12:38:41.162381+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA6 as ready","entity_name":"GATA6","entity_type":"gene"},{"created":"2022-01-05T12:38:41.151712+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata6 has been classified as Green List (High Evidence).","entity_name":"GATA6","entity_type":"gene"},{"created":"2022-01-05T12:38:36.645470+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1833","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA6 were changed from ATRIOVENTRICULAR SEPTAL DEFECT 5; PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS; ATRIAL SEPTAL DEFECT 9 to Pancreatic agenesis and congenital heart defects, MIM# 600001","entity_name":"GATA6","entity_type":"gene"},{"created":"2022-01-05T12:38:20.971176+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1832","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GATA6 were set to ","entity_name":"GATA6","entity_type":"gene"},{"created":"2022-01-05T12:38:09.951706+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1831","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GATA6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA6","entity_type":"gene"},{"created":"2022-01-05T12:37:33.887367+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1830","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA2 as ready","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-01-05T12:37:33.877951+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1830","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata2 has been classified as Amber List (Moderate Evidence).","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-01-05T12:37:30.258057+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1830","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA2 were changed from EMBERGER SYNDROME to Emberger syndrome, MIM# 614038","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-01-05T12:37:18.160423+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1829","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GATA2 were set to ","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-01-05T12:37:06.407873+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1828","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GATA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-01-05T12:36:39.223169+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1827","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GATA2 as Amber List (moderate evidence)","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-01-05T12:36:39.211573+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1827","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata2 has been classified as Amber List (Moderate Evidence).","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-01-05T12:35:01.881041+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1826","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALC as ready","entity_name":"GALC","entity_type":"gene"},{"created":"2022-01-05T12:35:01.871008+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1826","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galc has been classified as Red List (Low Evidence).","entity_name":"GALC","entity_type":"gene"},{"created":"2022-01-05T12:34:54.830309+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1826","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GALC as Red List (low evidence)","entity_name":"GALC","entity_type":"gene"},{"created":"2022-01-05T12:34:54.820554+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1826","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galc has been classified as Red List (Low Evidence).","entity_name":"GALC","entity_type":"gene"},{"created":"2022-01-05T12:34:42.519545+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1825","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Cannot find reports of hydrops with this specific lysosomal storage disorder. \nSources: Expert list; to: Cannot find reports of hydrops with this specific lysosomal storage disorder. \r\n\r\nProgressive post-natal course.\r\n\r\nSources: Expert list","entity_name":"GALC","entity_type":"gene"},{"created":"2022-01-05T12:33:16.200739+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1825","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: G6PC3 as ready","entity_name":"G6PC3","entity_type":"gene"},{"created":"2022-01-05T12:33:16.191503+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1825","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: g6pc3 has been classified as Green List (High Evidence).","entity_name":"G6PC3","entity_type":"gene"},{"created":"2022-01-05T12:33:04.485221+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1825","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: G6PC3 were changed from Dursun syndrome; Neutropenia, severe congenital 4, autosomal recessive to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541","entity_name":"G6PC3","entity_type":"gene"},{"created":"2022-01-05T12:32:53.342297+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1824","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: G6PC3 were set to ","entity_name":"G6PC3","entity_type":"gene"},{"created":"2022-01-05T12:32:34.962931+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1823","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"G6PC3","entity_type":"gene"},{"created":"2022-01-05T12:32:26.828460+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1823","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: G6PC3: Added comment: Congenital heart defects are a feature.; Changed rating: GREEN","entity_name":"G6PC3","entity_type":"gene"},{"created":"2022-01-05T12:32:18.304942+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1823","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (MIM#612347), Long QT syndrome 5 (MIM#613695); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KCNE1","entity_type":"gene"},{"created":"2022-01-05T12:28:43.504618+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10483","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T12:27:27.952843+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.13","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T12:25:19.260422+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1823","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KCNC1: Rating: RED; Mode of pathogenicity: None; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC1","entity_type":"gene"},{"created":"2022-01-05T12:09:05.007767+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1823","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: KBTBD13: Rating: RED; Mode of pathogenicity: None; Publications: 11731279, 21104864; Phenotypes: Nemaline myopathy 6, autosomal dominant (MIM#609273); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KBTBD13","entity_type":"gene"},{"created":"2022-01-05T12:06:21.834798+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1823","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: JAK3: Rating: RED; Mode of pathogenicity: None; Publications: 7659163, 7481768; Phenotypes: SCID, autosomal recessive, T-negative/B-positive type (MIM#600802); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JAK3","entity_type":"gene"},{"created":"2022-01-05T11:53:17.356119+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1823","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FYCO1 as ready","entity_name":"FYCO1","entity_type":"gene"},{"created":"2022-01-05T11:53:17.338660+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1823","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fyco1 has been classified as Green List (High Evidence).","entity_name":"FYCO1","entity_type":"gene"},{"created":"2022-01-05T11:53:12.635224+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1823","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FYCO1 were changed from Cataract 18 (MIN#610019) AR to Cataract 18 (MIM#610019) AR","entity_name":"FYCO1","entity_type":"gene"},{"created":"2022-01-05T11:53:01.184224+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1822","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FYCO1 were changed from CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 to Cataract 18 (MIN#610019) AR","entity_name":"FYCO1","entity_type":"gene"},{"created":"2022-01-05T11:52:37.686472+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1821","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FYCO1 were set to ","entity_name":"FYCO1","entity_type":"gene"},{"created":"2022-01-05T11:52:02.728238+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1820","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FTL as ready","entity_name":"FTL","entity_type":"gene"},{"created":"2022-01-05T11:52:02.715935+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1820","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ftl has been classified as Green List (High Evidence).","entity_name":"FTL","entity_type":"gene"},{"created":"2022-01-05T11:51:57.756817+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1820","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FTL were changed from HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME to Hyperferritinemia-cataract syndrome, MIM# 600886","entity_name":"FTL","entity_type":"gene"},{"created":"2022-01-05T11:51:45.305436+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1819","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FTL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FTL","entity_type":"gene"},{"created":"2022-01-05T11:51:32.163081+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"FTL","entity_type":"gene"},{"created":"2022-01-05T11:51:27.397644+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FTL: Added comment: Cataracts are congenital in some and may be detectable antenatally.; Changed rating: GREEN; Changed phenotypes: Hyperferritinemia-cataract syndrome, MIM# 600886; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FTL","entity_type":"gene"},{"created":"2022-01-05T11:50:59.669139+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10483","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7 MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T11:50:56.594357+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4404","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7 MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T11:50:46.948815+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1818","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7 MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"DPF2","entity_type":"gene"},{"created":"2022-01-05T11:50:17.517852+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FRMD4A as ready","entity_name":"FRMD4A","entity_type":"gene"},{"created":"2022-01-05T11:50:17.507582+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frmd4a has been classified as Amber List (Moderate Evidence).","entity_name":"FRMD4A","entity_type":"gene"},{"created":"2022-01-05T11:50:13.127391+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1818","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FRMD4A were changed from ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 to Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819","entity_name":"FRMD4A","entity_type":"gene"},{"created":"2022-01-05T11:49:24.324921+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1817","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FRMD4A as Amber List (moderate evidence)","entity_name":"FRMD4A","entity_type":"gene"},{"created":"2022-01-05T11:49:24.314370+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1817","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frmd4a has been classified as Amber List (Moderate Evidence).","entity_name":"FRMD4A","entity_type":"gene"},{"created":"2022-01-05T11:48:26.351258+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10483","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FREM1 as ready","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:48:26.337434+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10483","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frem1 has been classified as Green List (High Evidence).","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:48:16.452783+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10483","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FREM1 were changed from  to Manitoba oculotrichoanal syndrome 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980; Trigonocephaly 2, MIM# 614485","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:47:57.257908+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10482","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FREM1 were set to ","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:47:34.879657+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10481","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FREM1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:47:11.035621+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10480","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32016392, 21931569, 21507892, 19732862, 20301721, 28111185; Phenotypes: Manitoba oculotrichoanal syndrome 248450, Bifid nose with or without anorectal and renal anomalies, MIM# 608980, Trigonocephaly 2, MIM# 614485; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:46:31.022751+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1816","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FREM1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:45:49.856548+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1815","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FREM1 as ready","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:45:49.845046+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1815","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frem1 has been classified as Green List (High Evidence).","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:45:43.700291+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1815","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FREM1 were changed from MANITOBA OCULOTRICHOANAL SYNDROME to Manitoba oculotrichoanal syndrome 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980; Trigonocephaly 2, MIM# 614485","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:45:29.339630+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1814","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FREM1 were set to ","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:45:07.123520+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1813","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single individual reported with compound het variants in this gene, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes. \nSources: Literature; to: Single individual reported with compound het variants in this gene and CDH, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes. \r\nSources: Literature","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:44:53.262618+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1813","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FREM1: Added comment: Bi-allelic variants are associated with multiple congenital anomaly syndromes (MOTA and BNAR), which likely represent a spectrum.\r\n\r\nThree families reported with trigonocephaly and single missense variants.; Changed rating: GREEN; Changed publications: 32016392, 21931569, 21507892, 19732862, 20301721, 28111185; Changed phenotypes: Manitoba oculotrichoanal syndrome 248450, Bifid nose with or without anorectal and renal anomalies, MIM# 608980, Trigonocephaly 2, MIM# 614485","entity_name":"FREM1","entity_type":"gene"},{"created":"2022-01-05T11:43:31.436258+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1813","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25129144; Phenotypes: Neutropenia, severe congenital, 6, autosomal recessive (MIM#616022); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JAGN1","entity_type":"gene"},{"created":"2022-01-05T11:37:28.135619+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10480","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FRAS1 as ready","entity_name":"FRAS1","entity_type":"gene"},{"created":"2022-01-05T11:37:28.124347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10480","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fras1 has been classified as Green List (High Evidence).","entity_name":"FRAS1","entity_type":"gene"},{"created":"2022-01-05T11:37:19.282577+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10480","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FRAS1 were changed from  to Fraser syndrome 1, MIM#219000","entity_name":"FRAS1","entity_type":"gene"},{"created":"2022-01-05T11:37:00.630969+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10479","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FRAS1 were set to ","entity_name":"FRAS1","entity_type":"gene"},{"created":"2022-01-05T11:36:41.058593+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10478","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FRAS1","entity_type":"gene"},{"created":"2022-01-05T11:36:20.605246+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10477","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12766769, 18671281; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FRAS1","entity_type":"gene"},{"created":"2022-01-05T11:34:29.826793+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1813","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FRAS1 as ready","entity_name":"FRAS1","entity_type":"gene"},{"created":"2022-01-05T11:34:29.808455+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1813","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fras1 has been classified as Green List (High Evidence).","entity_name":"FRAS1","entity_type":"gene"},{"created":"2022-01-05T11:34:25.674218+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1813","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FRAS1 were changed from FRASER SYNDROME to Fraser syndrome 1, MIM#219000","entity_name":"FRAS1","entity_type":"gene"},{"created":"2022-01-05T11:34:09.549748+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1812","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID is part of the phenotype; to: Multiple congenital anomalies syndrome.","entity_name":"FRAS1","entity_type":"gene"},{"created":"2022-01-05T11:24:30.407272+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.684","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXRED1 as ready","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2022-01-05T11:24:30.398548+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.684","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxred1 has been classified as Green List (High Evidence).","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2022-01-05T11:24:15.885343+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.684","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXRED1 were changed from  to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2022-01-05T11:23:46.644230+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.683","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXRED1 were set to ","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2022-01-05T11:23:23.303824+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10477","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 16055927, 17244376, 22797137; Phenotypes: 3-methylglutaconic aciduria, type V MIM#610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-01-05T11:22:23.181752+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.682","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2022-01-05T11:21:42.747609+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.681","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2022-01-05T11:21:23.739959+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.218","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM#\t617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575","entity_name":"SGPL1","entity_type":"gene"},{"created":"2022-01-05T11:21:18.940402+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1812","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SGPL1 as ready","entity_name":"SGPL1","entity_type":"gene"},{"created":"2022-01-05T11:21:18.930242+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1812","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sgpl1 has been classified as Green List (High Evidence).","entity_name":"SGPL1","entity_type":"gene"},{"created":"2022-01-05T11:21:10.303107+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.6","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SGPL1 as ready","entity_name":"SGPL1","entity_type":"gene"},{"created":"2022-01-05T11:21:10.282661+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.6","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sgpl1 has been classified as Green List (High Evidence).","entity_name":"SGPL1","entity_type":"gene"},{"created":"2022-01-05T11:21:01.597049+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1812","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome type 14, 617575; Fetal hydrops to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575","entity_name":"SGPL1","entity_type":"gene"},{"created":"2022-01-05T11:20:54.480127+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.6","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SGPL1 as Green List (high evidence)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2022-01-05T11:20:54.470045+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.6","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sgpl1 has been classified as Green List (High Evidence).","entity_name":"SGPL1","entity_type":"gene"},{"created":"2022-01-05T11:20:28.845397+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1811","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXRED1 as ready","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2022-01-05T11:20:28.828512+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1811","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxred1 has been classified as Green List (High Evidence).","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2022-01-05T11:20:27.478318+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1811","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SGPL1 were set to ","entity_name":"SGPL1","entity_type":"gene"},{"created":"2022-01-05T11:20:16.621541+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.217","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SGPL1 were set to 28165343","entity_name":"SGPL1","entity_type":"gene"}]}