{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=224","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=222","results":[{"created":"2025-05-25T22:53:37.105180+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.876","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: WDR34 were set to ","entity_name":"WDR34","entity_type":"gene"},{"created":"2025-05-25T22:51:23.854102+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.875","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: WDR62 as ready","entity_name":"WDR62","entity_type":"gene"},{"created":"2025-05-25T22:51:23.844693+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.875","user_name":"Seb Lunke","item_type":"entity","text":"Gene: wdr62 has been classified as Green List (High Evidence).","entity_name":"WDR62","entity_type":"gene"},{"created":"2025-05-25T22:51:17.975563+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.875","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317","entity_name":"WDR62","entity_type":"gene"},{"created":"2025-05-25T22:51:09.398790+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.874","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: WDR62 were set to ","entity_name":"WDR62","entity_type":"gene"},{"created":"2025-05-25T22:50:36.395194+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.873","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: WDR81 as ready","entity_name":"WDR81","entity_type":"gene"},{"created":"2025-05-25T22:50:36.387914+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.873","user_name":"Seb Lunke","item_type":"entity","text":"Gene: wdr81 has been classified as Green List (High Evidence).","entity_name":"WDR81","entity_type":"gene"},{"created":"2025-05-25T22:50:23.926669+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.873","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430; Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794","entity_name":"WDR81","entity_type":"gene"},{"created":"2025-05-25T22:50:15.807006+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.872","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: WDR81 were set to ","entity_name":"WDR81","entity_type":"gene"},{"created":"2025-05-25T22:47:00.987365+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.871","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: WHRN as ready","entity_name":"WHRN","entity_type":"gene"},{"created":"2025-05-25T22:47:00.980471+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.871","user_name":"Seb Lunke","item_type":"entity","text":"Gene: whrn has been classified as Green List (High Evidence).","entity_name":"WHRN","entity_type":"gene"},{"created":"2025-05-25T22:46:54.821137+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.871","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: WHRN were changed from Usher syndrome, type 2D, 611383 (3) to Usher syndrome, type 2D MIM#611383","entity_name":"WHRN","entity_type":"gene"},{"created":"2025-05-25T22:46:42.421852+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.870","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: WHRN were set to ","entity_name":"WHRN","entity_type":"gene"},{"created":"2025-05-25T22:46:24.002023+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.869","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: WISP3 as ready","entity_name":"WISP3","entity_type":"gene"},{"created":"2025-05-25T22:46:23.970036+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.869","user_name":"Seb Lunke","item_type":"entity","text":"Gene: wisp3 has been classified as Green List (High Evidence).","entity_name":"WISP3","entity_type":"gene"},{"created":"2025-05-25T22:46:20.283922+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.869","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: WISP3 were changed from Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) to Progressive pseudorheumatoid dysplasia MIM#208230","entity_name":"WISP3","entity_type":"gene"},{"created":"2025-05-25T22:46:09.881889+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.868","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: WISP3 were set to ","entity_name":"WISP3","entity_type":"gene"},{"created":"2025-05-25T22:45:29.914803+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.867","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: WRN as ready","entity_name":"WRN","entity_type":"gene"},{"created":"2025-05-25T22:45:29.907866+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.867","user_name":"Seb Lunke","item_type":"entity","text":"Gene: wrn has been classified as Green List (High Evidence).","entity_name":"WRN","entity_type":"gene"},{"created":"2025-05-25T22:45:25.878435+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.867","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: WRN were changed from Werner syndrome, 277700 (3) to Werner syndrome, MIM#277700","entity_name":"WRN","entity_type":"gene"},{"created":"2025-05-25T22:45:18.422236+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.866","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: WRN were set to ","entity_name":"WRN","entity_type":"gene"},{"created":"2025-05-25T22:44:37.066778+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.865","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: WWOX as ready","entity_name":"WWOX","entity_type":"gene"},{"created":"2025-05-25T22:44:37.058443+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.865","user_name":"Seb Lunke","item_type":"entity","text":"Gene: wwox has been classified as Green List (High Evidence).","entity_name":"WWOX","entity_type":"gene"},{"created":"2025-05-25T22:44:30.732175+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.865","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: WWOX were changed from Epileptic encephalopathy, early infantile, 28, 616211 (3) to Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322; Developmental and epileptic encephalopathy 28, MIM# 616211","entity_name":"WWOX","entity_type":"gene"},{"created":"2025-05-25T22:44:21.545255+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.864","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: WWOX were set to ","entity_name":"WWOX","entity_type":"gene"},{"created":"2025-05-25T22:43:53.807631+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.863","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: XIAP as ready","entity_name":"XIAP","entity_type":"gene"},{"created":"2025-05-25T22:43:53.798311+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.863","user_name":"Seb Lunke","item_type":"entity","text":"Gene: xiap has been classified as Green List (High Evidence).","entity_name":"XIAP","entity_type":"gene"},{"created":"2025-05-25T22:42:28.552630+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.863","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: XIAP were changed from Lymphoproliferative syndrome, X-linked, 2, 300635 (3) to Lymphoproliferative syndorme, X-linked, 2 MIM#300635","entity_name":"XIAP","entity_type":"gene"},{"created":"2025-05-25T22:42:03.267293+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.862","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: XIAP were set to ","entity_name":"XIAP","entity_type":"gene"},{"created":"2025-05-25T22:41:47.668175+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.861","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: XPA as ready","entity_name":"XPA","entity_type":"gene"},{"created":"2025-05-25T22:41:47.661259+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.861","user_name":"Seb Lunke","item_type":"entity","text":"Gene: xpa has been classified as Green List (High Evidence).","entity_name":"XPA","entity_type":"gene"},{"created":"2025-05-25T22:41:44.147402+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.861","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: XPA were changed from Xeroderma pigmentosum, group A, 278700 (3) to Xeroderma pigmentosum, group A , MIM#278700","entity_name":"XPA","entity_type":"gene"},{"created":"2025-05-25T22:41:01.775837+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.860","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: XPC as ready","entity_name":"XPC","entity_type":"gene"},{"created":"2025-05-25T22:41:01.763988+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.860","user_name":"Seb Lunke","item_type":"entity","text":"Gene: xpc has been classified as Green List (High Evidence).","entity_name":"XPC","entity_type":"gene"},{"created":"2025-05-25T22:40:58.176136+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.860","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: XPC were changed from Xeroderma pigmentosum, group C, 278720 (3) to Xeroderma pigmentosum, group C, MIM#278720","entity_name":"XPC","entity_type":"gene"},{"created":"2025-05-25T22:40:23.552970+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.859","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: XPC were set to ","entity_name":"XPC","entity_type":"gene"},{"created":"2025-05-25T22:40:06.336647+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.858","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: YARS2 as ready","entity_name":"YARS2","entity_type":"gene"},{"created":"2025-05-25T22:40:06.329615+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.858","user_name":"Seb Lunke","item_type":"entity","text":"Gene: yars2 has been classified as Green List (High Evidence).","entity_name":"YARS2","entity_type":"gene"},{"created":"2025-05-25T22:40:01.843211+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.858","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: YARS2 were changed from Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) to Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561","entity_name":"YARS2","entity_type":"gene"},{"created":"2025-05-25T22:39:50.288117+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.857","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: YARS2 were set to ","entity_name":"YARS2","entity_type":"gene"},{"created":"2025-05-25T22:39:23.532883+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.856","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: ZBTB24 as ready","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2025-05-25T22:39:23.526232+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.856","user_name":"Seb Lunke","item_type":"entity","text":"Gene: zbtb24 has been classified as Green List (High Evidence).","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2025-05-25T22:39:19.507350+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.856","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: ZBTB24 were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3) to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2025-05-25T22:39:08.142679+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.855","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: ZBTB24 were set to ","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2025-05-23T14:33:51.956955+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.148","user_name":"Sarah Pantaleo","item_type":"entity","text":"reviewed gene: PIP5K1C: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), PIP5K1C-related; Mode of inheritance: None","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2025-05-23T02:48:18.189763+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2599","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAH12 as ready","entity_name":"DNAH12","entity_type":"gene"},{"created":"2025-05-23T02:48:18.164512+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2599","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnah12 has been classified as Green List (High Evidence).","entity_name":"DNAH12","entity_type":"gene"},{"created":"2025-05-23T02:48:06.945061+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2599","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAH12 as Green List (high evidence)","entity_name":"DNAH12","entity_type":"gene"},{"created":"2025-05-23T02:48:06.935889+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2599","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnah12 has been classified as Green List (High Evidence).","entity_name":"DNAH12","entity_type":"gene"},{"created":"2025-05-23T02:47:29.766537+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2598","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAH12 was added\ngene: DNAH12 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DNAH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH12 were set to 39071892; 40146200\nPhenotypes for gene: DNAH12 were set to Spermatogenic failure 100, MIM# 621209\nReview for gene: DNAH12 was set to GREEN\nAdded comment: Twelve individuals from 7 families and two mouse models support this association \nSources: Literature","entity_name":"DNAH12","entity_type":"gene"},{"created":"2025-05-23T02:47:11.455136+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAH12 as ready","entity_name":"DNAH12","entity_type":"gene"},{"created":"2025-05-23T02:47:11.445566+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnah12 has been classified as Green List (High Evidence).","entity_name":"DNAH12","entity_type":"gene"},{"created":"2025-05-23T02:45:22.482022+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAH12 as Green List (high evidence)","entity_name":"DNAH12","entity_type":"gene"},{"created":"2025-05-23T02:45:22.474509+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnah12 has been classified as Green List (High Evidence).","entity_name":"DNAH12","entity_type":"gene"},{"created":"2025-05-23T02:45:10.982659+10:00","panel_name":"Infertility and Pregnancy Loss","panel_id":4455,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAH12 was added\ngene: DNAH12 was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DNAH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH12 were set to 39071892; 40146200\nPhenotypes for gene: DNAH12 were set to Spermatogenic failure 100, MIM#\t621209\nReview for gene: DNAH12 was set to GREEN\nAdded comment: Twelve individuals from 7 families and two mouse models support this association. \nSources: Literature","entity_name":"DNAH12","entity_type":"gene"},{"created":"2025-05-21T21:59:03.233453+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.362","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTC26 as ready","entity_name":"TTC26","entity_type":"gene"},{"created":"2025-05-21T21:59:03.221027+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc26 has been classified as Green List (High Evidence).","entity_name":"TTC26","entity_type":"gene"},{"created":"2025-05-21T21:58:56.001525+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.362","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TTC26 as Green List (high evidence)","entity_name":"TTC26","entity_type":"gene"},{"created":"2025-05-21T21:58:55.993903+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc26 has been classified as Green List (High Evidence).","entity_name":"TTC26","entity_type":"gene"},{"created":"2025-05-21T21:58:38.942244+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.361","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TTC26 was added\ngene: TTC26 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TTC26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC26 were set to 34177428; 32617964; 31595528; 24596149; 22718903\nPhenotypes for gene: TTC26 were set to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534\nReview for gene: TTC26 was set to GREEN\nAdded comment: 9 families and functional data including zebrafish model. Multiple congenital anomalies likely identifiable by US. \nSources: Literature","entity_name":"TTC26","entity_type":"gene"},{"created":"2025-05-21T21:56:26.374453+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.360","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOGARAM1 were changed from Cerebral dysgenesis; Cleft of the lip and palate; Hydrocephalus; Microphthalmia to Joubert syndrome 37, MIM# 619185","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2025-05-21T21:56:08.241727+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.359","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TOGARAM1 as Green List (high evidence)","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2025-05-21T21:56:08.233160+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.359","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: togaram1 has been classified as Green List (High Evidence).","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2025-05-21T21:55:53.848650+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.358","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TOGARAM1: Added comment: PMID 32453716: 5 unrelated individuals with Joubert syndrome.; Changed rating: GREEN; Changed publications: 32747439, 32453716; Changed phenotypes: Joubert syndrome 37, MIM# 619185","entity_name":"TOGARAM1","entity_type":"gene"},{"created":"2025-05-21T21:49:23.613581+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.358","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF3B as ready","entity_name":"KIF3B","entity_type":"gene"},{"created":"2025-05-21T21:49:23.604518+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.358","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif3b has been classified as Amber List (Moderate Evidence).","entity_name":"KIF3B","entity_type":"gene"},{"created":"2025-05-21T21:49:16.904023+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.358","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF3B as Amber List (moderate evidence)","entity_name":"KIF3B","entity_type":"gene"},{"created":"2025-05-21T21:49:16.897380+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.358","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif3b has been classified as Amber List (Moderate Evidence).","entity_name":"KIF3B","entity_type":"gene"},{"created":"2025-05-21T21:49:03.875739+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.357","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF3B was added\ngene: KIF3B was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF3B were set to 32386558; 38665936\nPhenotypes for gene: KIF3B were set to Retinitis pigmentosa 89, MIM#618955; polydactyly\nReview for gene: KIF3B was set to AMBER\nAdded comment: Two families reported with supportive functional data. Predominant phenotype is RP, however polydactyly reported, which would be detectable by US. \nSources: Literature","entity_name":"KIF3B","entity_type":"gene"},{"created":"2025-05-21T21:45:11.655952+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT81 as ready","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:45:11.649473+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift81 has been classified as Green List (High Evidence).","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:45:05.129946+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFT81 as Green List (high evidence)","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:45:05.120706+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift81 has been classified as Green List (High Evidence).","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:44:39.182547+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT81: Added comment: More than 5 families reported with a skeletal ciliopathy.; Changed rating: GREEN; Changed publications: 27666822, 37427975, 32783357","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:43:31.659528+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT81 were set to 27666822; 30080953","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:43:07.583404+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFT81 as Green List (high evidence)","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:43:07.568512+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift81 has been classified as Green List (High Evidence).","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:42:42.490105+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT81: Added comment: More than 5 families reported with a skeletal ciliopathy.; Changed rating: GREEN; Changed publications: 27666822, 37427975, 32783357","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:42:02.187884+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.356","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFT81 as Green List (high evidence)","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:42:02.175923+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.356","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift81 has been classified as Green List (High Evidence).","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:41:47.850728+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT81: Added comment: More than 5 families reported with a skeletal ciliopathy.; Changed rating: GREEN; Changed publications: 27666822, 37427975, 32783357","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:41:24.755235+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT81: Changed rating: GREEN","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:40:49.086372+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT81: Added comment: More than 5 families reported with a skeletal ciliopathy.; Changed publications: 27666822, 37427975, 32783357","entity_name":"IFT81","entity_type":"gene"},{"created":"2025-05-21T21:37:51.433717+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF4 as ready","entity_name":"FGF4","entity_type":"gene"},{"created":"2025-05-21T21:37:51.426862+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf4 has been classified as Amber List (Moderate Evidence).","entity_name":"FGF4","entity_type":"gene"},{"created":"2025-05-21T21:37:35.929618+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGF4 as Amber List (moderate evidence)","entity_name":"FGF4","entity_type":"gene"},{"created":"2025-05-21T21:37:35.919635+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf4 has been classified as Amber List (Moderate Evidence).","entity_name":"FGF4","entity_type":"gene"},{"created":"2025-05-21T21:37:21.977280+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.354","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FGF4 was added\ngene: FGF4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGF4 were set to 40259859\nPhenotypes for gene: FGF4 were set to Jeune Syndrome, FGF4-related, MONDO:0018770\nReview for gene: FGF4 was set to AMBER\nAdded comment: Two families with three affected individuals reported with homozygous variants in FGF4.\r\n\r\nFamily 1 - Consanguineous parents with five children. Three are unaffected and two are affected with Jeune syndrome - like phenotypes. One of the affected siblings is deceased.\r\nProband was diagnosed with pulmonary hypoplasia at 6 months and later identified to have Jeune Syndrome due to other findings.\r\nHomozygous p.Leu86Phe missense variant was identified (variant absent from gnomAD v4.1)\r\n\r\nFamily 2 - Non-consanguineous parents with affected son with Jeune syndrome like phenotype (pulmonary hypoplasia and thoracic dystrophy)\r\nHomozygous p.Pro204His missense variant was identified (variant absent from gnomAD v4.1) \nSources: Literature","entity_name":"FGF4","entity_type":"gene"},{"created":"2025-05-21T21:35:34.979796+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.353","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCDC2 were set to 25557784; 31821705","entity_name":"DCDC2","entity_type":"gene"},{"created":"2025-05-21T21:35:19.750733+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.352","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DCDC2 as Green List (high evidence)","entity_name":"DCDC2","entity_type":"gene"},{"created":"2025-05-21T21:35:19.743589+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.352","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcdc2 has been classified as Green List (High Evidence).","entity_name":"DCDC2","entity_type":"gene"},{"created":"2025-05-21T21:35:04.658024+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.351","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DCDC2: Added comment: DEFINITIVE by ClinGen.; Changed rating: GREEN; Changed publications: 27469900, 25557784, 31821705","entity_name":"DCDC2","entity_type":"gene"},{"created":"2025-05-21T21:33:01.484490+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.351","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP76 as ready","entity_name":"CEP76","entity_type":"gene"},{"created":"2025-05-21T21:33:01.474645+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.351","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep76 has been classified as Green List (High Evidence).","entity_name":"CEP76","entity_type":"gene"},{"created":"2025-05-21T21:32:55.143458+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.351","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP76 as Green List (high evidence)","entity_name":"CEP76","entity_type":"gene"},{"created":"2025-05-21T21:32:55.129376+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.351","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep76 has been classified as Green List (High Evidence).","entity_name":"CEP76","entity_type":"gene"},{"created":"2025-05-21T21:32:41.105819+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.350","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP76 was added\ngene: CEP76 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CEP76 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP76 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CEP76 was set to GREEN\nAdded comment: Erica Davis, Stanley Manne Children’s research institute, Chicago\r\nESHG presentation 4/6/24, unpublished\r\n\r\nCEP76 associated with syndromic ciliopathy\r\n\r\nCEP76 localizes to centrioles and basal body primary cilia\r\nRole in normal centriolar duplication\r\n\r\nIndex case\r\nBardet Biedl syndrome\r\nCompound heterozygous pLoF variants in CEP76\r\n\r\nVia Gene matcher\r\n7 cases in 7 families- biallelic CEP76 and various clinical features within ciliopathy spectrum:\r\nObesity\r\nOcular phenotype\r\nStructural brain anomalies\r\nRenal?\r\n\r\n3/7 families clinical Dx Joubert syndrome\r\n1/7 BBS\r\n1/7 GDD/ID NOS\r\n2/7 retinitis pigmentosa (1 of these with learning difficulties)\r\n\r\nMixture of biallelic pLOF and missense variant\r\n\r\nCEP76 knockout zebrafish model shows retinal phenotype w photoreceptor loss, similar to homozygous known BBS4 pathogenic variant\r\n\r\nCell based fx studies with missense variants above, consistent with centriolar duplication dysfunction \nSources: Literature","entity_name":"CEP76","entity_type":"gene"},{"created":"2025-05-21T21:30:57.500125+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.349","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC32 as ready","entity_name":"CCDC32","entity_type":"gene"},{"created":"2025-05-21T21:30:57.492204+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.349","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc32 has been classified as Green List (High Evidence).","entity_name":"CCDC32","entity_type":"gene"},{"created":"2025-05-21T21:30:48.654582+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.349","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC32 as Green List (high evidence)","entity_name":"CCDC32","entity_type":"gene"}]}