{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=308","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=306","results":[{"created":"2025-01-17T10:47:43.846299+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1096","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DGKE as ready","entity_name":"DGKE","entity_type":"gene"},{"created":"2025-01-17T10:47:43.834708+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1096","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dgke has been classified as Green List (High Evidence).","entity_name":"DGKE","entity_type":"gene"},{"created":"2025-01-17T10:47:40.436927+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1096","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DGKE were changed from Nephrotic syndrome, type 7, 615008 (3) to Nephrotic syndrome, type 7, MIM# 615008","entity_name":"DGKE","entity_type":"gene"},{"created":"2025-01-17T10:47:28.675203+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1095","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DGKE were set to ","entity_name":"DGKE","entity_type":"gene"},{"created":"2025-01-17T10:46:57.109873+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1094","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DGUOK as ready","entity_name":"DGUOK","entity_type":"gene"},{"created":"2025-01-17T10:46:57.096491+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1094","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dguok has been classified as Green List (High Evidence).","entity_name":"DGUOK","entity_type":"gene"},{"created":"2025-01-17T10:46:50.347755+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1094","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880","entity_name":"DGUOK","entity_type":"gene"},{"created":"2025-01-17T10:46:02.722023+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1093","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DGUOK were set to ","entity_name":"DGUOK","entity_type":"gene"},{"created":"2025-01-17T10:45:22.924667+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1092","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL7A1 as ready","entity_name":"COL7A1","entity_type":"gene"},{"created":"2025-01-17T10:45:22.907824+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1092","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col7a1 has been classified as Green List (High Evidence).","entity_name":"COL7A1","entity_type":"gene"},{"created":"2025-01-17T10:45:18.689904+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1092","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica, AR, 226600 (3) to Epidermolysis bullosa dystrophica, MIM#226600","entity_name":"COL7A1","entity_type":"gene"},{"created":"2025-01-17T10:44:59.765556+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1091","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL7A1 were set to ","entity_name":"COL7A1","entity_type":"gene"},{"created":"2025-01-17T10:44:15.025056+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1090","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL12RB1 as ready","entity_name":"IL12RB1","entity_type":"gene"},{"created":"2025-01-17T10:44:15.000586+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1090","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il12rb1 has been classified as Green List (High Evidence).","entity_name":"IL12RB1","entity_type":"gene"},{"created":"2025-01-17T10:44:11.999752+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1090","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL12RB1 were changed from Immunodeficiency 30, 614891 (3) to Immunodeficiency 30, MIM#614891","entity_name":"IL12RB1","entity_type":"gene"},{"created":"2025-01-17T10:43:59.287668+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1089","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL12RB1 were set to ","entity_name":"IL12RB1","entity_type":"gene"},{"created":"2025-01-17T10:43:45.020840+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1088","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL12RB1","entity_type":"gene"},{"created":"2025-01-17T10:41:43.355696+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1088","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DARS as ready","entity_name":"DARS","entity_type":"gene"},{"created":"2025-01-17T10:41:43.346762+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1088","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dars has been classified as Green List (High Evidence).","entity_name":"DARS","entity_type":"gene"},{"created":"2025-01-17T10:41:26.316756+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1088","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DARS were set to ","entity_name":"DARS","entity_type":"gene"},{"created":"2025-01-17T10:41:04.070182+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1087","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCHS1 as ready","entity_name":"DCHS1","entity_type":"gene"},{"created":"2025-01-17T10:41:04.052401+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1087","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dchs1 has been classified as Green List (High Evidence).","entity_name":"DCHS1","entity_type":"gene"},{"created":"2025-01-17T10:38:32.726541+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1087","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCHS1 were set to ","entity_name":"DCHS1","entity_type":"gene"},{"created":"2025-01-17T10:06:08.529368+11:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2025-01-17T10:01:43.942414+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1086","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDX11 as ready","entity_name":"DDX11","entity_type":"gene"},{"created":"2025-01-17T10:01:43.914993+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1086","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx11 has been classified as Green List (High Evidence).","entity_name":"DDX11","entity_type":"gene"},{"created":"2025-01-17T10:01:30.346524+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1086","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, 613398 (3) to Warsaw breakage syndrome, MIM#613398","entity_name":"DDX11","entity_type":"gene"},{"created":"2025-01-17T10:01:09.022470+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1085","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDX11 were set to ","entity_name":"DDX11","entity_type":"gene"},{"created":"2025-01-17T10:00:17.625079+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1084","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: ISCA1.","entity_name":"ISCA1","entity_type":"gene"},{"created":"2025-01-17T09:59:29.263943+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1084","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCARB2 as ready","entity_name":"SCARB2","entity_type":"gene"},{"created":"2025-01-17T09:59:29.248903+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1084","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scarb2 has been classified as Green List (High Evidence).","entity_name":"SCARB2","entity_type":"gene"},{"created":"2025-01-17T09:59:19.464574+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1084","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCARB2 were changed from Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3) to Epilepsy, progressive myoclonic 4, with or without renal failure, MIM#254900","entity_name":"SCARB2","entity_type":"gene"},{"created":"2025-01-17T09:59:04.265529+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1083","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCARB2 were set to ","entity_name":"SCARB2","entity_type":"gene"},{"created":"2025-01-17T09:58:15.715479+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1082","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAI2 as ready","entity_name":"DNAI2","entity_type":"gene"},{"created":"2025-01-17T09:58:15.698411+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1082","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnai2 has been classified as Green List (High Evidence).","entity_name":"DNAI2","entity_type":"gene"},{"created":"2025-01-17T09:57:48.512161+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1082","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAI2 were changed from Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444","entity_name":"DNAI2","entity_type":"gene"},{"created":"2025-01-17T09:57:34.389199+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1081","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAI2 were set to ","entity_name":"DNAI2","entity_type":"gene"},{"created":"2025-01-17T09:57:04.368514+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1080","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAI2","entity_type":"gene"},{"created":"2025-01-17T09:54:30.788560+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1080","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF2B1 as ready","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2025-01-17T09:54:30.776051+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1080","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2b1 has been classified as Green List (High Evidence).","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2025-01-17T09:54:27.440823+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1080","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EIF2B1 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2025-01-17T09:54:15.967411+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1079","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EIF2B1 were set to ","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2025-01-17T09:53:44.164601+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITPR1 as ready","entity_name":"ITPR1","entity_type":"gene"},{"created":"2025-01-17T09:53:44.146081+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itpr1 has been classified as Green List (High Evidence).","entity_name":"ITPR1","entity_type":"gene"},{"created":"2025-01-17T09:53:40.974338+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1078","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITPR1 were changed from Gillespie syndrome, 206700 (3), Autosomal recessive to Gillespie syndrome, MIM#206700","entity_name":"ITPR1","entity_type":"gene"},{"created":"2025-01-17T09:53:24.463529+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1077","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITPR1 were set to ","entity_name":"ITPR1","entity_type":"gene"},{"created":"2025-01-17T09:52:37.797069+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1076","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPAGT1 as ready","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2025-01-17T09:52:37.770927+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1076","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpagt1 has been classified as Green List (High Evidence).","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2025-01-17T09:52:33.829936+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1076","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPAGT1 were changed from Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3) to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2025-01-17T09:52:14.383286+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1075","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPAGT1 were set to ","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2025-01-17T09:50:22.356395+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1074","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SUMF1 as ready","entity_name":"SUMF1","entity_type":"gene"},{"created":"2025-01-17T09:50:22.345601+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1074","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sumf1 has been classified as Green List (High Evidence).","entity_name":"SUMF1","entity_type":"gene"},{"created":"2025-01-17T09:50:14.999732+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1074","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency, 272200 (3) to Multiple sulfatase deficiency, MIM#272200","entity_name":"SUMF1","entity_type":"gene"},{"created":"2025-01-17T09:49:46.735106+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1073","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SUMF1 were set to ","entity_name":"SUMF1","entity_type":"gene"},{"created":"2025-01-17T09:49:03.630586+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1072","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAZ as ready","entity_name":"TAZ","entity_type":"gene"},{"created":"2025-01-17T09:49:03.618763+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1072","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taz has been classified as Green List (High Evidence).","entity_name":"TAZ","entity_type":"gene"},{"created":"2025-01-17T09:49:00.586544+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1072","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAZ were changed from Barth syndrome, 302060 (3) to Barth syndrome (MIM# 302060)","entity_name":"TAZ","entity_type":"gene"},{"created":"2025-01-17T09:48:49.120374+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1071","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAZ were set to ","entity_name":"TAZ","entity_type":"gene"},{"created":"2025-01-17T09:48:23.507060+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1070","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ENPP1 as ready","entity_name":"ENPP1","entity_type":"gene"},{"created":"2025-01-17T09:48:23.494821+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1070","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: enpp1 has been classified as Green List (High Evidence).","entity_name":"ENPP1","entity_type":"gene"},{"created":"2025-01-17T09:48:20.264785+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1070","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ENPP1 were changed from Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) to Arterial calcification, generalized, of infancy, 1 MIM#208000; Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312","entity_name":"ENPP1","entity_type":"gene"},{"created":"2025-01-17T09:48:08.868021+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1069","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ENPP1 were set to ","entity_name":"ENPP1","entity_type":"gene"},{"created":"2025-01-17T09:46:19.151143+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1068","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EDAR as ready","entity_name":"EDAR","entity_type":"gene"},{"created":"2025-01-17T09:46:19.136184+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1068","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: edar has been classified as Green List (High Evidence).","entity_name":"EDAR","entity_type":"gene"},{"created":"2025-01-17T09:46:15.210316+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1068","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) to autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619","entity_name":"EDAR","entity_type":"gene"},{"created":"2025-01-17T09:45:56.578497+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1067","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EDAR were set to ","entity_name":"EDAR","entity_type":"gene"},{"created":"2025-01-17T09:44:34.799613+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1066","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF2S3 as ready","entity_name":"EIF2S3","entity_type":"gene"},{"created":"2025-01-17T09:44:34.790451+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1066","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2s3 has been classified as Green List (High Evidence).","entity_name":"EIF2S3","entity_type":"gene"},{"created":"2025-01-17T09:44:30.768492+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1066","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EIF2S3 were changed from MEHMO syndrome, 300148 (3), X-linked recessive to MEHMO syndrome, MIM# 300148","entity_name":"EIF2S3","entity_type":"gene"},{"created":"2025-01-17T09:44:16.333291+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1065","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EIF2S3 were set to ","entity_name":"EIF2S3","entity_type":"gene"},{"created":"2025-01-17T09:39:14.370486+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPM7 as ready","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:39:14.359155+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm7 has been classified as Green List (High Evidence).","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:39:07.167625+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM7 as Green List (high evidence)","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:39:07.144365+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm7 has been classified as Green List (High Evidence).","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:38:33.403926+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM7 as Green List (high evidence)","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:38:33.392092+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm7 has been classified as Green List (High Evidence).","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:37:28.488278+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRPM7 was added\ngene: TRPM7 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM7 were set to 35561741; 35712613; 39099563; 37188671\nPhenotypes for gene: TRPM7 were set to Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related\nReview for gene: TRPM7 was set to GREEN\nAdded comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.\r\nPMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.\r\nPMID 35712613: de novo missense variant in an individual with hypoMg.\r\nPMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.\r\nPMID 37188671: mouse model investigating role in HypoMg and seizure-related death. \nSources: Literature","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:36:36.907522+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:36:18.281421+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRPM7: Added comment: PMID 37188671: mouse model investigating role in HypoMg and seizure-related death.; Changed publications: 35561741, 35712613, 39099563, 37188671","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:31:12.611778+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPM7 as ready","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:31:12.600228+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm7 has been classified as Green List (High Evidence).","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:30:47.289198+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.49","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRPM7 were changed from Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related to Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:30:04.822589+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM7 as Green List (high evidence)","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:30:04.794907+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm7 has been classified as Green List (High Evidence).","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:28:52.543197+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRPM7 was added\ngene: TRPM7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM7 were set to 35561741; 35712613; 39099563\nPhenotypes for gene: TRPM7 were set to Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related\nReview for gene: TRPM7 was set to GREEN\nAdded comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.\r\nPMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.\r\nPMID 35712613: de novo missense variant in an individual with hypoMg.\r\nPMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures. \nSources: Literature","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:25:41.359379+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2264","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM7 as Green List (high evidence)","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:25:41.349004+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2264","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm7 has been classified as Green List (High Evidence).","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:25:21.581873+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2263","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa. PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant. PMID 35712613: de novo missense variant in an individual with hypoMg. PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.; to: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa. PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant. PMID 35712613: de novo missense variant in an individual with hypoMg. PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.\r\n\r\nOverall, Green for association with HypoMg.\r\n\r\nRed for ALS and stillbirth.","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:24:35.520895+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2263","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRPM7: Added comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa. PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant. PMID 35712613: de novo missense variant in an individual with hypoMg. PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.; Changed rating: GREEN; Changed publications: 32503408, 31423533, 35561741, 35712613, 39099563; Changed phenotypes: Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related, {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500, Cardiac arrhythmia, stillbirth","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:22:16.538460+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPM7 as ready","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:22:16.524059+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm7 has been classified as Green List (High Evidence).","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:22:11.418615+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPM7 as Green List (high evidence)","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:22:11.404406+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm7 has been classified as Green List (High Evidence).","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:21:58.250745+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.\r\nPMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.\r\nPMID 35712613: de novo missense variant in an individual with hypoMg.\r\nPMID 39099563: three affected individuals with missense variants, all de novo. \nSources: Expert Review; to: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.\r\nPMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.\r\nPMID 35712613: de novo missense variant in an individual with hypoMg.\r\nPMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.\r\nSources: Expert Review","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:21:16.403013+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1064","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345904, 30515627, 27745833, 33694278; Phenotypes: Myopathy, myofibrillar, 8 MIM#617258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2025-01-17T09:20:56.514750+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRPM7: Changed rating: GREEN","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T09:20:34.105849+11:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRPM7 was added\ngene: TRPM7 was added to Renal Tubulopathies and related disorders. Sources: Expert Review\nMode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM7 were set to 35561741; 35712613; 39099563\nPhenotypes for gene: TRPM7 were set to Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related\nAdded comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.\r\nPMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.\r\nPMID 35712613: de novo missense variant in an individual with hypoMg.\r\nPMID 39099563: three affected individuals with missense variants, all de novo. \nSources: Expert Review","entity_name":"TRPM7","entity_type":"gene"},{"created":"2025-01-17T08:42:21.290340+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.305","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome MIM#280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGL","entity_type":"gene"},{"created":"2025-01-17T08:37:27.741531+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1064","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301527, 9326939, 9326940; Phenotypes: Refsum disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHYH","entity_type":"gene"},{"created":"2025-01-17T08:24:30.652266+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1064","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 11890679, 9837814, 20647552, 20301621, 30078639; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876, Peroxisome biogenesis disorder 8B MIM#614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX16","entity_type":"gene"}]}