{"count":220549,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=111","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=109","results":[{"created":"2025-11-27T11:32:10.811486+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.597","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: COX4I1 as Green List (high evidence)","entity_name":"COX4I1","entity_type":"gene"},{"created":"2025-11-27T11:32:10.804093+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.597","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: cox4i1 has been classified as Green List (High Evidence).","entity_name":"COX4I1","entity_type":"gene"},{"created":"2025-11-27T11:31:53.541058+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.1092","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: COX4I1 as Green List (high evidence)","entity_name":"COX4I1","entity_type":"gene"},{"created":"2025-11-27T11:31:53.534463+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.1092","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: cox4i1 has been classified as Green List (High Evidence).","entity_name":"COX4I1","entity_type":"gene"},{"created":"2025-11-27T11:31:29.120356+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.372","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: COX4I1 as Green List (high evidence)","entity_name":"COX4I1","entity_type":"gene"},{"created":"2025-11-27T11:31:29.107922+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.372","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: cox4i1 has been classified as Green List (High Evidence).","entity_name":"COX4I1","entity_type":"gene"},{"created":"2025-11-27T11:30:35.659249+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3692","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: COX4I1 as Green List (high evidence)","entity_name":"COX4I1","entity_type":"gene"},{"created":"2025-11-27T11:30:35.652061+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3692","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: cox4i1 has been classified as Green List (High Evidence).","entity_name":"COX4I1","entity_type":"gene"},{"created":"2025-11-27T11:25:34.879647+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3691","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC6A9 were changed from Glycine encephalopathy with normal serum glycine, MIM# 617301 to Glycine encephalopathy with normal serum glycine, MIM# 617301; Scoliosis, isolated, susceptibility to, 6, MIM# 621428","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2025-11-27T11:25:15.525390+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3690","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC6A9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2025-11-27T11:24:52.177305+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3689","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC6A9: Added comment: 26 patients from 5 families with adolescent idiopathic scoliosis. Plasma glycine concentration measured in 15 patients was elevated compared to that in 36 unaffected controls. In addition, surface electromyography in 2 affected children showed aberrant paraspinal muscle activity, which was not observed in affected adults, suggesting an etiology for the spinal curvature occurring during the developmental period.\r\n\r\nTwo different missense variants reported. Functional studies indicated a dominant negative effect. In zebrafish, mutant glyt1 protein was shown to exhibit dominant-negative effects over the wildtype protein. All slc6A9 hmz m/m fish died by 18 days postfertilization (dpf), whereas about half of the slc6A9 het m/+ fish survived to 30 dpf. Glycine levels were elevated in the slc6A9 m/m fish, and at 7 dpf the majority of the mutant fish had a lateral axial curvature. In addition, some of the slc6A9 m/+ fish also had a lateral axial curvature, which persisted through day 100 dpf. The spinal curvature was rescued by expression of wildtype SLC6A9 but not with expression of SLC6A9 with a Y206F or R662W mutation. Treatment of the slc6A9 m/m fish with benzoate, a glycine neutralizer, moderately improved the curvature phenotype; Changed publications: 27481395, 27773429, 14622582, 33269555, 37962965; Changed phenotypes: Glycine encephalopathy with normal serum glycine, MIM# 617301, Scoliosis, isolated, susceptibility to, 6, MIM# 621428; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC6A9","entity_type":"gene"},{"created":"2025-11-27T11:12:56.385363+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.456","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421","entity_name":"TRA2B","entity_type":"gene"},{"created":"2025-11-27T11:12:19.588484+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.455","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRA2B","entity_type":"gene"},{"created":"2025-11-27T11:11:58.421968+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.287","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related (MONDO#0700092) to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421","entity_name":"TRA2B","entity_type":"gene"},{"created":"2025-11-27T11:11:29.971372+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3689","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene GJA5 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T11:11:22.002645+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.286","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRA2B","entity_type":"gene"},{"created":"2025-11-27T11:11:11.989003+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.505","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: GJA5 as ready","entity_name":"GJA5","entity_type":"gene"},{"created":"2025-11-27T11:11:11.976488+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.505","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gja5 has been classified as Red List (Low Evidence).","entity_name":"GJA5","entity_type":"gene"},{"created":"2025-11-27T11:11:05.075905+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.371","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421","entity_name":"TRA2B","entity_type":"gene"},{"created":"2025-11-27T11:10:26.551586+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.370","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRA2B","entity_type":"gene"},{"created":"2025-11-27T11:09:28.448959+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.505","user_name":"Chirag Patel","item_type":"entity","text":"gene: GJA5 was added\ngene: GJA5 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: GJA5.\nMode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GJA5 were set to Congenital heart disease, MONDO:0005453\nReview for gene: GJA5 was set to RED\nAdded comment: ClinGen DISPUTED - Apr 2024 \nSources: ClinGen","entity_name":"GJA5","entity_type":"gene"},{"created":"2025-11-27T11:08:49.905529+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3688","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene HDAC1 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T11:08:48.706527+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3688","user_name":"Chirag Patel","item_type":"entity","text":"gene: HDAC1 was added\ngene: HDAC1 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: HDAC1.\nMode of inheritance for gene: HDAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HDAC1 were set to Congenital heart disease, MONDO:0005453","entity_name":"HDAC1","entity_type":"gene"},{"created":"2025-11-27T11:08:32.192831+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.504","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: HDAC1 as ready","entity_name":"HDAC1","entity_type":"gene"},{"created":"2025-11-27T11:08:32.184538+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.504","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hdac1 has been classified as Red List (Low Evidence).","entity_name":"HDAC1","entity_type":"gene"},{"created":"2025-11-27T11:08:25.013284+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.504","user_name":"Chirag Patel","item_type":"entity","text":"gene: HDAC1 was added\ngene: HDAC1 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: HDAC1.\nMode of inheritance for gene: HDAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HDAC1 were set to Congenital heart disease, MONDO:0005453\nReview for gene: HDAC1 was set to RED\nAdded comment: ClinGen DISPUTED - Jan 2024 \nSources: ClinGen","entity_name":"HDAC1","entity_type":"gene"},{"created":"2025-11-27T11:08:15.400173+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.503","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: COL1A2 as ready","entity_name":"COL1A2","entity_type":"gene"},{"created":"2025-11-27T11:08:15.389051+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.503","user_name":"Chirag Patel","item_type":"entity","text":"Gene: col1a2 has been classified as Red List (Low Evidence).","entity_name":"COL1A2","entity_type":"gene"},{"created":"2025-11-27T11:07:53.384666+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.503","user_name":"Chirag Patel","item_type":"entity","text":"gene: COL1A2 was added\ngene: COL1A2 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: COL1A2.\nMode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL1A2 were set to Congenital heart disease, MONDO:0005453\nReview for gene: COL1A2 was set to RED\nAdded comment: ClinGen DISPUTED - Sep 2024 \nSources: ClinGen","entity_name":"COL1A2","entity_type":"gene"},{"created":"2025-11-27T11:06:59.434321+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3687","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRA2B were changed from Neurodevelopmental disorder, TRA2B-related, MONDO# 0700092 to Ramond-Elliott neurodevelopmental syndrome, MIM# 621421","entity_name":"TRA2B","entity_type":"gene"},{"created":"2025-11-27T11:06:37.336099+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3686","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ramond-Elliott neurodevelopmental syndrome, MIM# 621421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRA2B","entity_type":"gene"},{"created":"2025-11-27T11:06:00.737764+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.502","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: SCN5A as ready","entity_name":"SCN5A","entity_type":"gene"},{"created":"2025-11-27T11:06:00.728957+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.502","user_name":"Chirag Patel","item_type":"entity","text":"Gene: scn5a has been classified as Red List (Low Evidence).","entity_name":"SCN5A","entity_type":"gene"},{"created":"2025-11-27T11:05:42.284141+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.502","user_name":"Chirag Patel","item_type":"entity","text":"gene: SCN5A was added\ngene: SCN5A was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: SCN5A.\nMode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN5A were set to Congenital heart disease, MONDO:0005453\nReview for gene: SCN5A was set to RED\nAdded comment: ClinGen DISPUTED - Dec 2024 \nSources: ClinGen","entity_name":"SCN5A","entity_type":"gene"},{"created":"2025-11-27T11:03:42.048617+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.501","user_name":"Chirag Patel","item_type":"entity","text":"gene: ID2 was added\ngene: ID2 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: ID2.\nMode of inheritance for gene: ID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ID2 were set to Congenital heart disease, MONDO:0005453\nReview for gene: ID2 was set to RED\nAdded comment: ClinGen DISPUTED - Nov 2023 \nSources: ClinGen","entity_name":"ID2","entity_type":"gene"},{"created":"2025-11-27T11:03:24.321598+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.501","user_name":"Chirag Patel","item_type":"entity","text":"gene: ID2 was added\ngene: ID2 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: ID2.\nMode of inheritance for gene: ID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ID2 were set to Congenital heart disease, MONDO:0005453\nReview for gene: ID2 was set to RED\nAdded comment: ClinGen DISPUTED - Nov 2023 \nSources: ClinGen","entity_name":"ID2","entity_type":"gene"},{"created":"2025-11-27T11:01:28.070216+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3686","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene DAND5 from panel Heterotaxy","entity_name":null,"entity_type":null},{"created":"2025-11-27T11:00:56.363255+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.500","user_name":"Chirag Patel","item_type":"entity","text":"gene: DAND5 was added\ngene: DAND5 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: DAND5.\nMode of inheritance for gene: DAND5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DAND5 were set to Congenital heart disease, MONDO:0005453\nReview for gene: DAND5 was set to RED\nAdded comment: ClinGen DISPUTED - Jun 2024 \nSources: ClinGen","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-11-27T11:00:43.590538+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.500","user_name":"Chirag Patel","item_type":"entity","text":"gene: DAND5 was added\ngene: DAND5 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: DAND5.\nMode of inheritance for gene: DAND5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DAND5 were set to Congenital heart disease, MONDO:0005453\nReview for gene: DAND5 was set to RED\nAdded comment: ClinGen DISPUTED - Jun 2024 \nSources: ClinGen","entity_name":"DAND5","entity_type":"gene"},{"created":"2025-11-27T10:59:45.468181+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3685","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene UGDH from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T10:59:40.654647+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3684","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene NFATC2 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T10:59:24.336351+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3684","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene PROX1 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T10:59:22.744541+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3684","user_name":"Chirag Patel","item_type":"entity","text":"gene: PROX1 was added\ngene: PROX1 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: PROX1.\nMode of inheritance for gene: PROX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PROX1 were set to Congenital heart disease, MONDO:0005453","entity_name":"PROX1","entity_type":"gene"},{"created":"2025-11-27T10:58:55.955644+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.499","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: PROX1 as ready","entity_name":"PROX1","entity_type":"gene"},{"created":"2025-11-27T10:58:55.944076+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.499","user_name":"Chirag Patel","item_type":"entity","text":"Gene: prox1 has been classified as Red List (Low Evidence).","entity_name":"PROX1","entity_type":"gene"},{"created":"2025-11-27T10:58:52.517695+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.499","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NFATC2 as ready","entity_name":"NFATC2","entity_type":"gene"},{"created":"2025-11-27T10:58:52.507501+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.499","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nfatc2 has been classified as Red List (Low Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2025-11-27T10:58:48.618986+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.499","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: UGDH as ready","entity_name":"UGDH","entity_type":"gene"},{"created":"2025-11-27T10:58:48.610939+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.499","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ugdh has been classified as Red List (Low Evidence).","entity_name":"UGDH","entity_type":"gene"},{"created":"2025-11-27T10:58:26.032369+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.499","user_name":"Chirag Patel","item_type":"entity","text":"gene: PROX1 was added\ngene: PROX1 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: PROX1.\nMode of inheritance for gene: PROX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PROX1 were set to Congenital heart disease, MONDO:0005453\nReview for gene: PROX1 was set to RED\nAdded comment: ClinGen DISPUTED - Aug 2024 \nSources: ClinGen","entity_name":"PROX1","entity_type":"gene"},{"created":"2025-11-27T10:58:08.335717+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.498","user_name":"Chirag Patel","item_type":"entity","text":"gene: NFATC2 was added\ngene: NFATC2 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: NFATC2.\nMode of inheritance for gene: NFATC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NFATC2 were set to Congenital heart disease, MONDO:0005453\nReview for gene: NFATC2 was set to RED\nAdded comment: ClinGen DISPUTED - Mar 2024 \nSources: ClinGen","entity_name":"NFATC2","entity_type":"gene"},{"created":"2025-11-27T10:57:54.088044+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.498","user_name":"Chirag Patel","item_type":"entity","text":"gene: UGDH was added\ngene: UGDH was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: UGDH.\nMode of inheritance for gene: UGDH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: UGDH were set to Congenital heart disease, MONDO:0005453\nReview for gene: UGDH was set to RED\nAdded comment: ClinGen DISPUTED - Jun 2024 \nSources: ClinGen","entity_name":"UGDH","entity_type":"gene"},{"created":"2025-11-27T10:56:13.161477+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3683","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene RAI2 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T10:56:12.554468+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3683","user_name":"Chirag Patel","item_type":"entity","text":"gene: RAI2 was added\ngene: RAI2 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: RAI2.\nMode of inheritance for gene: RAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAI2 were set to Congenital heart disease, MONDO:0005453","entity_name":"RAI2","entity_type":"gene"},{"created":"2025-11-27T10:55:55.528412+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3682","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene NFATC1 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T10:55:53.042424+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.497","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: RAI2 as ready","entity_name":"RAI2","entity_type":"gene"},{"created":"2025-11-27T10:55:53.035619+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.497","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rai2 has been classified as Red List (Low Evidence).","entity_name":"RAI2","entity_type":"gene"},{"created":"2025-11-27T10:55:49.847263+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.497","user_name":"Chirag Patel","item_type":"entity","text":"gene: RAI2 was added\ngene: RAI2 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: RAI2.\nMode of inheritance for gene: RAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAI2 were set to Congenital heart disease, MONDO:0005453\nReview for gene: RAI2 was set to RED\nAdded comment: ClinGen DISPUTED - Apr 2024 \nSources: ClinGen","entity_name":"RAI2","entity_type":"gene"},{"created":"2025-11-27T10:55:38.527170+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.496","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NFATC1 as ready","entity_name":"NFATC1","entity_type":"gene"},{"created":"2025-11-27T10:55:38.519327+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.496","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nfatc1 has been classified as Red List (Low Evidence).","entity_name":"NFATC1","entity_type":"gene"},{"created":"2025-11-27T10:55:01.402141+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.496","user_name":"Chirag Patel","item_type":"entity","text":"gene: NFATC1 was added\ngene: NFATC1 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: NFATC1.\nMode of inheritance for gene: NFATC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NFATC1 were set to Congenital heart disease, MONDO:0005453\nReview for gene: NFATC1 was set to RED\nAdded comment: ClinGen DISPUTED - Jul 2023 \nSources: ClinGen","entity_name":"NFATC1","entity_type":"gene"},{"created":"2025-11-27T10:54:03.089875+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3681","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene CTNNA3 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T10:53:45.509515+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.495","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CTNNA3 as ready","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2025-11-27T10:53:45.499483+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.495","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ctnna3 has been classified as Red List (Low Evidence).","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2025-11-27T10:53:41.054631+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.495","user_name":"Chirag Patel","item_type":"entity","text":"gene: CTNNA3 was added\ngene: CTNNA3 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: CTNNA3.\nMode of inheritance for gene: CTNNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CTNNA3 were set to Congenital heart disease, MONDO:0005453\nReview for gene: CTNNA3 was set to RED\nAdded comment: ClinGen DISPUTED - Oct 2023 \nSources: ClinGen","entity_name":"CTNNA3","entity_type":"gene"},{"created":"2025-11-27T10:51:49.756205+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3680","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NTRK3 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T10:51:49.106868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3680","user_name":"Chirag Patel","item_type":"entity","text":"gene: NTRK3 was added\ngene: NTRK3 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: NTRK3.\nMode of inheritance for gene: NTRK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NTRK3 were set to Congenital heart disease, MONDO:0005453","entity_name":"NTRK3","entity_type":"gene"},{"created":"2025-11-27T10:51:40.436168+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3680","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene HEY1 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T10:51:38.749621+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3680","user_name":"Chirag Patel","item_type":"entity","text":"gene: HEY1 was added\ngene: HEY1 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: HEY1.\nMode of inheritance for gene: HEY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HEY1 were set to Congenital heart disease, MONDO:0005453","entity_name":"HEY1","entity_type":"gene"},{"created":"2025-11-27T10:51:15.313380+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.494","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: HEY1 as ready","entity_name":"HEY1","entity_type":"gene"},{"created":"2025-11-27T10:51:15.306479+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.494","user_name":"Chirag Patel","item_type":"entity","text":"Gene: hey1 has been classified as Red List (Low Evidence).","entity_name":"HEY1","entity_type":"gene"},{"created":"2025-11-27T10:51:00.423623+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.494","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NTRK3 as ready","entity_name":"NTRK3","entity_type":"gene"},{"created":"2025-11-27T10:51:00.415285+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.494","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ntrk3 has been classified as Red List (Low Evidence).","entity_name":"NTRK3","entity_type":"gene"},{"created":"2025-11-27T10:50:24.621683+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.494","user_name":"Chirag Patel","item_type":"entity","text":"gene: NTRK3 was added\ngene: NTRK3 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: NTRK3.\nMode of inheritance for gene: NTRK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NTRK3 were set to Congenital heart disease, MONDO:0005453\nReview for gene: NTRK3 was set to RED\nAdded comment: ClinGen DISPUTED - Feb 2024 \nSources: ClinGen","entity_name":"NTRK3","entity_type":"gene"},{"created":"2025-11-27T10:50:07.505757+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.494","user_name":"Chirag Patel","item_type":"entity","text":"gene: HEY1 was added\ngene: HEY1 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: HEY1.\nMode of inheritance for gene: HEY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HEY1 were set to Congenital heart disease, MONDO:0005453\nReview for gene: HEY1 was set to RED\nAdded comment: ClinGen DISPUTED - Aug 2024 \nSources: ClinGen","entity_name":"HEY1","entity_type":"gene"},{"created":"2025-11-27T10:48:56.025133+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.493","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: OSR1 as ready","entity_name":"OSR1","entity_type":"gene"},{"created":"2025-11-27T10:48:56.017985+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.493","user_name":"Chirag Patel","item_type":"entity","text":"Gene: osr1 has been classified as Red List (Low Evidence).","entity_name":"OSR1","entity_type":"gene"},{"created":"2025-11-27T10:48:51.567299+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3679","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: ClinGen DISPUTED - Aug 2024; to: ClinGen DISPUTED - Apr 2024","entity_name":"OSR1","entity_type":"gene"},{"created":"2025-11-27T10:48:51.438196+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.493","user_name":"Chirag Patel","item_type":"entity","text":"gene: OSR1 was added\ngene: OSR1 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: OSR1.\nMode of inheritance for gene: OSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OSR1 were set to Congenital heart disease, MONDO:0005453\nReview for gene: OSR1 was set to RED\nAdded comment: ClinGen DISPUTED - Apr 2024 \nSources: ClinGen","entity_name":"OSR1","entity_type":"gene"},{"created":"2025-11-27T10:47:48.487279+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3679","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: OSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OSR1","entity_type":"gene"},{"created":"2025-11-27T10:47:33.642212+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3679","user_name":"Chirag Patel","item_type":"entity","text":"Mode of inheritance for gene: OSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OSR1","entity_type":"gene"},{"created":"2025-11-27T10:47:31.963885+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3679","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: OSR1 were changed from  to Congenital heart disease, MONDO:0005453","entity_name":"OSR1","entity_type":"gene"},{"created":"2025-11-27T10:46:48.978425+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3678","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene LEFTY2 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T10:46:31.750880+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.492","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: LEFTY2 as ready","entity_name":"LEFTY2","entity_type":"gene"},{"created":"2025-11-27T10:46:31.743156+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.492","user_name":"Chirag Patel","item_type":"entity","text":"Gene: lefty2 has been classified as Red List (Low Evidence).","entity_name":"LEFTY2","entity_type":"gene"},{"created":"2025-11-27T10:46:27.048206+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.492","user_name":"Chirag Patel","item_type":"entity","text":"gene: LEFTY2 was added\ngene: LEFTY2 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: LEFTY2.\nMode of inheritance for gene: LEFTY2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LEFTY2 were set to Congenital heart disease, MONDO:0005453\nReview for gene: LEFTY2 was set to RED\nAdded comment: ClinGen DISPUTED - Feb 2024 \nSources: ClinGen","entity_name":"LEFTY2","entity_type":"gene"},{"created":"2025-11-27T10:45:38.740909+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3677","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene CSRP1 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T10:45:38.097282+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3677","user_name":"Chirag Patel","item_type":"entity","text":"gene: CSRP1 was added\ngene: CSRP1 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: CSRP1.\nMode of inheritance for gene: CSRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CSRP1 were set to Congenital heart disease, MONDO:0005453","entity_name":"CSRP1","entity_type":"gene"},{"created":"2025-11-27T10:45:27.546433+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3677","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene ATE1 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-27T10:45:25.040387+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3677","user_name":"Chirag Patel","item_type":"entity","text":"gene: ATE1 was added\ngene: ATE1 was added to Mendeliome. Sources: Expert Review Red,ClinGen\ndisputed tags were added to gene: ATE1.\nMode of inheritance for gene: ATE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATE1 were set to Congenital heart disease, MONDO:0005453","entity_name":"ATE1","entity_type":"gene"},{"created":"2025-11-27T10:45:18.657323+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.491","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CSRP1 as ready","entity_name":"CSRP1","entity_type":"gene"},{"created":"2025-11-27T10:45:18.645804+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.491","user_name":"Chirag Patel","item_type":"entity","text":"Gene: csrp1 has been classified as Red List (Low Evidence).","entity_name":"CSRP1","entity_type":"gene"},{"created":"2025-11-27T10:45:15.488633+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.491","user_name":"Chirag Patel","item_type":"entity","text":"gene: CSRP1 was added\ngene: CSRP1 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: CSRP1.\nMode of inheritance for gene: CSRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CSRP1 were set to Congenital heart disease, MONDO:0005453\nReview for gene: CSRP1 was set to RED\nAdded comment: ClinGen DISPUTED - Jul 2024 \nSources: ClinGen","entity_name":"CSRP1","entity_type":"gene"},{"created":"2025-11-27T10:45:06.013505+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.490","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: ATE1 as ready","entity_name":"ATE1","entity_type":"gene"},{"created":"2025-11-27T10:45:05.998086+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.490","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ate1 has been classified as Red List (Low Evidence).","entity_name":"ATE1","entity_type":"gene"},{"created":"2025-11-27T10:44:44.223865+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.490","user_name":"Chirag Patel","item_type":"entity","text":"gene: ATE1 was added\ngene: ATE1 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: ATE1.\nMode of inheritance for gene: ATE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATE1 were set to Congenital heart disease, MONDO:0005453\nReview for gene: ATE1 was set to RED\nAdded comment: ClinGen DISPUTED - Aug 2023 \nSources: ClinGen","entity_name":"ATE1","entity_type":"gene"},{"created":"2025-11-27T10:43:23.536753+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.489","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: DCHS1 as ready","entity_name":"DCHS1","entity_type":"gene"},{"created":"2025-11-27T10:43:23.529801+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.489","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dchs1 has been classified as Red List (Low Evidence).","entity_name":"DCHS1","entity_type":"gene"},{"created":"2025-11-27T10:43:11.732183+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3676","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: FOXL1 were changed from Otosclerosis 11 #MIM620576 to Otosclerosis 11 #MIM620576; Congenital heart disease, MONDO:0005453","entity_name":"FOXL1","entity_type":"gene"},{"created":"2025-11-27T10:42:55.865080+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.489","user_name":"Chirag Patel","item_type":"entity","text":"gene: DCHS1 was added\ngene: DCHS1 was added to Congenital Heart Defect. Sources: ClinGen\ndisputed tags were added to gene: DCHS1.\nMode of inheritance for gene: DCHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DCHS1 were set to Congenital heart disease, MONDO:0005453\nReview for gene: DCHS1 was set to RED\nAdded comment: ClinGen DISPUTED - Feb 2024 \nSources: ClinGen","entity_name":"DCHS1","entity_type":"gene"}]}