{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=477","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=475","results":[{"created":"2024-03-27T18:29:07.193596+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2527","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAGA were changed from  to Schindler disease, type I and type II 609241","entity_name":"NAGA","entity_type":"gene"},{"created":"2024-03-27T18:28:22.535698+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2526","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAGA were set to ","entity_name":"NAGA","entity_type":"gene"},{"created":"2024-03-27T18:27:42.009024+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2525","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NAGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAGA","entity_type":"gene"},{"created":"2024-03-27T18:27:12.903836+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2524","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NAGA as Amber List (moderate evidence)","entity_name":"NAGA","entity_type":"gene"},{"created":"2024-03-27T18:27:12.889974+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2524","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naga has been classified as Amber List (Moderate Evidence).","entity_name":"NAGA","entity_type":"gene"},{"created":"2024-03-27T18:26:32.235094+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2523","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NAGA: Changed rating: AMBER","entity_name":"NAGA","entity_type":"gene"},{"created":"2024-03-27T18:22:27.959372+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2523","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTOR as ready","entity_name":"MTOR","entity_type":"gene"},{"created":"2024-03-27T18:22:27.948247+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2523","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtor has been classified as Green List (High Evidence).","entity_name":"MTOR","entity_type":"gene"},{"created":"2024-03-27T18:22:20.968985+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2523","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTOR were changed from  to Smith-Kingsmore syndrome, MIM# 616638; Focal cortical dysplasia, type II, somatic, MIM# 607341; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283","entity_name":"MTOR","entity_type":"gene"},{"created":"2024-03-27T18:21:41.357971+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2522","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: MTOR was changed from  to Other","entity_name":"MTOR","entity_type":"gene"},{"created":"2024-03-27T18:21:12.011251+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2521","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTOR were set to ","entity_name":"MTOR","entity_type":"gene"},{"created":"2024-03-27T18:20:30.266307+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2520","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MTOR","entity_type":"gene"},{"created":"2024-03-27T18:19:27.434922+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2519","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTHFR as ready","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-03-27T18:19:27.420244+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2519","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mthfr has been classified as Green List (High Evidence).","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-03-27T18:19:18.960199+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2519","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency MIM#236250 to Homocystinuria due to MTHFR deficiency MIM#236250","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-03-27T18:17:29.505515+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2518","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTHFR were changed from  to Homocystinuria due to MTHFR deficiency MIM#236250","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-03-27T18:16:49.135392+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2517","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTHFR were set to ","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-03-27T18:16:18.156574+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2516","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MTHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-03-27T18:15:39.199068+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2515","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria due to MTHFR deficiency MIM#236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTHFR","entity_type":"gene"},{"created":"2024-03-27T15:51:12.455635+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2515","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MOCS2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS2","entity_type":"gene"},{"created":"2024-03-27T15:50:43.842706+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2514","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MOCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS2","entity_type":"gene"},{"created":"2024-03-27T15:49:58.641215+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2513","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency B MIM#252160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS2","entity_type":"gene"},{"created":"2024-03-27T15:46:21.594745+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2513","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMADHC as ready","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-03-27T15:46:21.578761+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2513","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmadhc has been classified as Green List (High Evidence).","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-03-27T15:46:05.922508+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2513","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMADHC were changed from  to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-03-27T15:45:38.698710+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2513","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MMADHC were set to ","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-03-27T15:45:07.956266+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2512","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MMADHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMADHC","entity_type":"gene"},{"created":"2024-03-27T15:44:18.274687+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2511","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMACHC as ready","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-03-27T15:44:18.263741+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2511","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmachc has been classified as Green List (High Evidence).","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-03-27T15:44:13.350038+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2511","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMACHC were changed from  to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-03-27T15:43:18.524610+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2510","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MMACHC were set to ","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-03-27T15:42:22.382721+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2509","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMACHC","entity_type":"gene"},{"created":"2024-03-27T15:41:32.276284+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2508","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MLC1 as ready","entity_name":"MLC1","entity_type":"gene"},{"created":"2024-03-27T15:41:32.263270+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2508","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlc1 has been classified as Green List (High Evidence).","entity_name":"MLC1","entity_type":"gene"},{"created":"2024-03-27T15:41:13.765619+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2508","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MLC1 were changed from  to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)","entity_name":"MLC1","entity_type":"gene"},{"created":"2024-03-27T15:40:33.758081+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2507","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MLC1 were set to ","entity_name":"MLC1","entity_type":"gene"},{"created":"2024-03-27T15:40:02.536883+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2506","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MLC1","entity_type":"gene"},{"created":"2024-03-27T15:39:04.694525+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2505","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFF as ready","entity_name":"MFF","entity_type":"gene"},{"created":"2024-03-27T15:39:04.676598+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2505","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mff has been classified as Green List (High Evidence).","entity_name":"MFF","entity_type":"gene"},{"created":"2024-03-27T15:38:54.272734+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2505","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MFF were changed from  to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086","entity_name":"MFF","entity_type":"gene"},{"created":"2024-03-27T15:38:26.790487+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2504","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MFF were set to ","entity_name":"MFF","entity_type":"gene"},{"created":"2024-03-27T15:37:39.052486+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2503","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MFF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MFF","entity_type":"gene"},{"created":"2024-03-27T08:08:08.617649+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1621","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: KAT6B were changed from SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170 to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170; KAT6B-related multiple congenital anomalies syndrome MONDO:0036042","entity_name":"KAT6B","entity_type":"gene"},{"created":"2024-03-27T07:43:39.192353+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5725","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SV2A were changed from Neurodevelopmental disorder, MONDO:0700092, SV2A-related to Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Developmental and epileptic encephalopathy 113, MIM# 620772","entity_name":"SV2A","entity_type":"gene"},{"created":"2024-03-27T07:43:03.771616+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5724","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SV2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 113, MIM# 620772; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SV2A","entity_type":"gene"},{"created":"2024-03-27T07:41:03.441100+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2502","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SV2A were changed from Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Developmental and epileptic encephalopathy 113, MIM# 620772 to Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Developmental and epileptic encephalopathy 113, MIM# 620772","entity_name":"SV2A","entity_type":"gene"},{"created":"2024-03-27T07:39:31.848484+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2501","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SV2A were changed from Neurodevelopmental disorder, MONDO:0700092, SV2A-related to Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Developmental and epileptic encephalopathy 113, MIM# 620772","entity_name":"SV2A","entity_type":"gene"},{"created":"2024-03-27T07:38:47.991756+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2500","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SV2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 113, MIM# 620772; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SV2A","entity_type":"gene"},{"created":"2024-03-27T07:38:24.707833+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.252","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SV2A were changed from Neurodevelopmental disorder, MONDO:0700092, SV2A-related to Developmental and epileptic encephalopathy 113, MIM# 620772","entity_name":"SV2A","entity_type":"gene"},{"created":"2024-03-27T07:37:55.157089+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.251","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SV2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 113, MIM# 620772; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SV2A","entity_type":"gene"},{"created":"2024-03-27T07:37:28.403289+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1620","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SV2A were changed from Neurodevelopmental disorder, MONDO:0700092, SV2A-related to Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Developmental and epileptic encephalopathy 113, MIM# 620772","entity_name":"SV2A","entity_type":"gene"},{"created":"2024-03-27T07:37:04.973504+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1619","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SV2A: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SV2A-related, Developmental and epileptic encephalopathy 113, MIM# 620772","entity_name":"SV2A","entity_type":"gene"},{"created":"2024-03-26T15:54:31.505200+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.220","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: PRDM6 as Amber List (moderate evidence)","entity_name":"PRDM6","entity_type":"gene"},{"created":"2024-03-26T15:54:31.489643+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.220","user_name":"Ain Roesley","item_type":"entity","text":"Gene: prdm6 has been classified as Amber List (Moderate Evidence).","entity_name":"PRDM6","entity_type":"gene"},{"created":"2024-03-26T15:54:18.474199+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.219","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: PRDM6: Changed rating: AMBER; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRDM6","entity_type":"gene"},{"created":"2024-03-26T14:23:07.068335+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.219","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: WASHC5 as Green List (high evidence)","entity_name":"WASHC5","entity_type":"gene"},{"created":"2024-03-26T14:23:07.053137+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.219","user_name":"Ain Roesley","item_type":"entity","text":"Gene: washc5 has been classified as Green List (High Evidence).","entity_name":"WASHC5","entity_type":"gene"},{"created":"2024-03-26T14:22:55.185728+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.218","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ritscher-Schinzel syndrome 1 MIM#220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"WASHC5","entity_type":"gene"},{"created":"2024-03-26T13:22:52.225329+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.218","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: SLC37A4 as Amber List (moderate evidence)","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2024-03-26T13:22:52.213389+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.218","user_name":"Ain Roesley","item_type":"entity","text":"Gene: slc37a4 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2024-03-26T13:22:39.717836+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.217","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2024-03-26T13:12:03.094291+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.217","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: RBFOX2 as ready","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2024-03-26T13:12:03.077132+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.217","user_name":"Ain Roesley","item_type":"entity","text":"Gene: rbfox2 has been classified as Amber List (Moderate Evidence).","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2024-03-26T13:11:54.620558+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.217","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: RBFOX2 as Amber List (moderate evidence)","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2024-03-26T13:11:54.609670+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.217","user_name":"Ain Roesley","item_type":"entity","text":"Gene: rbfox2 has been classified as Amber List (Moderate Evidence).","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2024-03-26T13:11:43.813000+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.216","user_name":"Ain Roesley","item_type":"entity","text":"gene: RBFOX2 was added\ngene: RBFOX2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBFOX2 were set to 26785492; 27670201; 27485310; 25205790; 35137168; 26785492; 37165897\nReview for gene: RBFOX2 was set to AMBER\ngene: RBFOX2 was marked as current diagnostic\nAdded comment: PMID: 37165897\r\n1x 'splice altering' de novo in in an individual with HLSH + AVSD\r\n\r\n- PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS). No further patient-specific clinical or variant info were available. Same cohort later included in PMID: 32368696, listed 4 de novo variants in this gene, in patients with left ventricular outflow tract obstruction (LVOTO) or conotruncal defects (CTDs).\r\n\r\n- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.\r\n- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.\r\n\r\n- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.\r\n\r\n- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS. \nSources: Literature","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2024-03-26T13:10:01.840796+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.215","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PRDM6: Rating: ; Mode of pathogenicity: None; Publications: 38071433; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes","entity_name":"PRDM6","entity_type":"gene"},{"created":"2024-03-26T13:09:03.087525+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.414","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: RBFOX2 were set to 26785492; 27670201; 27485310; 25205790; 35137168; 26785492","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2024-03-26T13:08:33.619927+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.413","user_name":"Ain Roesley","item_type":"entity","text":"commented on gene: RBFOX2","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2024-03-26T12:40:16.374559+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.413","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KDR as Green List (high evidence)","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:40:16.317860+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.413","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kdr has been classified as Green List (High Evidence).","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:39:56.060696+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.413","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KDR as Green List (high evidence)","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:39:56.024810+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.413","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kdr has been classified as Green List (High Evidence).","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:39:33.928629+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.413","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KDR as Green List (high evidence)","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:39:33.906041+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.413","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kdr has been classified as Green List (High Evidence).","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:39:03.034360+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.412","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: KDR: Rating: GREEN; Mode of pathogenicity: None; Publications: 34113005, 30232381, 28991257, 30232381; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:37:40.386171+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.215","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KDR as Green List (high evidence)","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:37:40.372190+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.215","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kdr has been classified as Green List (High Evidence).","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:37:28.254663+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.214","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KDR as ready","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:37:28.238674+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.214","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kdr has been classified as Red List (Low Evidence).","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:37:23.529953+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.214","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: KDR were set to 34113005; 30232381","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:37:13.618147+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.213","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: KDR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:37:01.099846+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.212","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: KDR: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:36:45.767155+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.212","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: KDR: Changed rating: GREEN; Changed publications: 34113005, 30232381, 28991257, 30232381; Set current diagnostic: yes","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:36:15.096592+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.212","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: PMID:30232381\r\n5x  families (6 affecteds) with ToF: 2x PTCs + 2x missense + 1x inframe del\r\nnoted that all individuals were adults at time of assessment but known to have ToF and/or other CHD\r\n\r\nPMID:34113005;\r\n1x family with 2 affecteds, Chet for 2x missense \nSources: Literature; to: GREEN for AD\r\nRED for AR\r\n\r\nPMID:30232381\r\n5x  families (6 affecteds) with ToF: 2x PTCs + 2x missense + 1x inframe del\r\nnoted that all individuals were adults at time of assessment but known to have ToF and/or other CHD\r\n\r\nPMID: 34328347;\r\ncohort of ToF, looking into LoF variants\r\n4x identified + 1x classified as VUS (stop gain in penultimate exon)\r\n1x stop gain citing PMID: 28991257\r\n\r\nPMID:34113005;\r\n1x family with 2 affecteds, Chet for 2x missense \r\n\r\n\r\n\r\nSources: Literature","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T12:24:06.104176+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.212","user_name":"Ain Roesley","item_type":"entity","text":"gene: KDR was added\ngene: KDR was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: KDR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KDR were set to 34113005; 30232381\nPhenotypes for gene: KDR were set to Tetralogy of Fallot\nAdded comment: PMID:30232381\r\n5x  families (6 affecteds) with ToF: 2x PTCs + 2x missense + 1x inframe del\r\nnoted that all individuals were adults at time of assessment but known to have ToF and/or other CHD\r\n\r\nPMID:34113005;\r\n1x family with 2 affecteds, Chet for 2x missense \nSources: Literature","entity_name":"KDR","entity_type":"gene"},{"created":"2024-03-26T11:53:29.929448+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.211","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: IRX4 as ready","entity_name":"IRX4","entity_type":"gene"},{"created":"2024-03-26T11:53:29.916161+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.211","user_name":"Ain Roesley","item_type":"entity","text":"Gene: irx4 has been classified as Red List (Low Evidence).","entity_name":"IRX4","entity_type":"gene"},{"created":"2024-03-26T11:53:23.861745+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.211","user_name":"Ain Roesley","item_type":"entity","text":"gene: IRX4 was added\ngene: IRX4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: IRX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IRX4 were set to 21544582\nPhenotypes for gene: IRX4 were set to Ventricular septal defect\nReview for gene: IRX4 was set to RED\ngene: IRX4 was marked as current diagnostic\nAdded comment: Two individuals with novel missense variants identified in a large cohort in 2011.\r\n\r\nnothing new in punned \nSources: Literature","entity_name":"IRX4","entity_type":"gene"},{"created":"2024-03-26T11:51:47.530412+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.210","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: HEY2 as ready","entity_name":"HEY2","entity_type":"gene"},{"created":"2024-03-26T11:51:47.519473+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.210","user_name":"Ain Roesley","item_type":"entity","text":"Gene: hey2 has been classified as Red List (Low Evidence).","entity_name":"HEY2","entity_type":"gene"},{"created":"2024-03-26T11:51:32.676000+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.210","user_name":"Ain Roesley","item_type":"entity","text":"gene: HEY2 was added\ngene: HEY2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: HEY2 were set to 32820247\nPhenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms\nReview for gene: HEY2 was set to RED\ngene: HEY2 was marked as current diagnostic\nAdded comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance).\r\n\r\nOther studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies. \nSources: Literature","entity_name":"HEY2","entity_type":"gene"},{"created":"2024-03-26T11:48:21.915448+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.209","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: DOHH as ready","entity_name":"DOHH","entity_type":"gene"},{"created":"2024-03-26T11:48:21.907274+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.209","user_name":"Ain Roesley","item_type":"entity","text":"Gene: dohh has been classified as Green List (High Evidence).","entity_name":"DOHH","entity_type":"gene"},{"created":"2024-03-26T11:48:17.765520+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.209","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: DOHH as Green List (high evidence)","entity_name":"DOHH","entity_type":"gene"},{"created":"2024-03-26T11:48:17.751176+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.209","user_name":"Ain Roesley","item_type":"entity","text":"Gene: dohh has been classified as Green List (High Evidence).","entity_name":"DOHH","entity_type":"gene"},{"created":"2024-03-26T11:48:04.092781+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.208","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: 4 families - 5 affecteds\r\n\r\n1x cardiomyopathy at prenatal examination\r\n4/5 presented with CHD post-natally -  VSD, ASD, severe cardiomegaly, Shone syndrome with aortic coarctation; bicuspid aortic valve; tricuspid-valve insufficiency etc\r\n\r\nmicrocephaly was post-natal \nSources: Literature; to: 4 families - 5 affecteds\r\n\r\nprenatal examination:\r\n1x cardiomyopathy \r\n1x increased nuchal translucency; chylothorax \r\n\r\npost-natal: \r\n4/5 presented with CHD  -  VSD, ASD, severe cardiomegaly, Shone syndrome with aortic coarctation; bicuspid aortic valve; tricuspid-valve insufficiency etc\r\n\r\n5/5 microcephaly ","entity_name":"DOHH","entity_type":"gene"},{"created":"2024-03-26T11:46:49.790991+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.208","user_name":"Ain Roesley","item_type":"entity","text":"gene: DOHH was added\ngene: DOHH was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOHH were set to 35858628\nPhenotypes for gene: DOHH were set to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066\nReview for gene: DOHH was set to GREEN\ngene: DOHH was marked as current diagnostic\nAdded comment: 4 families - 5 affecteds\r\n\r\n1x cardiomyopathy at prenatal examination\r\n4/5 presented with CHD post-natally -  VSD, ASD, severe cardiomegaly, Shone syndrome with aortic coarctation; bicuspid aortic valve; tricuspid-valve insufficiency etc\r\n\r\nmicrocephaly was post-natal \nSources: Literature","entity_name":"DOHH","entity_type":"gene"},{"created":"2024-03-26T11:32:29.009835+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.207","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: AMOTL1 as ready","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2024-03-26T11:32:28.990866+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.207","user_name":"Ain Roesley","item_type":"entity","text":"Gene: amotl1 has been classified as Green List (High Evidence).","entity_name":"AMOTL1","entity_type":"gene"}]}