{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1188","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1186","results":[{"created":"2021-10-11T17:04:48.755431+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1296","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RARS2 were changed from  to Pontocerebellar hypoplasia, type 6 MIM#611523","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-10-11T17:04:41.298835+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CASQ2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CASQ2","entity_type":"gene"},{"created":"2021-10-11T17:03:59.210021+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1295","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RARS2 were set to ","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-10-11T17:03:35.663965+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRDN","entity_type":"gene"},{"created":"2021-10-11T17:03:06.429541+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1294","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-10-11T17:03:03.744239+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.79","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T17:02:53.826677+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1C as ready","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2021-10-11T17:02:53.811875+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1c has been classified as Red List (Low Evidence).","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2021-10-11T17:02:06.126369+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN5A as ready","entity_name":"SCN5A","entity_type":"gene"},{"created":"2021-10-11T17:02:06.115607+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn5a has been classified as Red List (Low Evidence).","entity_name":"SCN5A","entity_type":"gene"},{"created":"2021-10-11T17:02:05.809304+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNJ2 were set to ","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-10-11T17:01:43.664472+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNA1C as Red List (low evidence)","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2021-10-11T17:01:43.650696+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1c has been classified as Red List (Low Evidence).","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2021-10-11T17:01:12.288335+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: CACNA1C.","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2021-10-11T17:00:40.530619+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA2D1 as ready","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T17:00:40.517133+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d1 has been classified as Red List (Low Evidence).","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T17:00:36.283029+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: CACNA2D1.","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T16:58:15.292080+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCN5A as Red List (low evidence)","entity_name":"SCN5A","entity_type":"gene"},{"created":"2021-10-11T16:58:15.282856+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn5a has been classified as Red List (Low Evidence).","entity_name":"SCN5A","entity_type":"gene"},{"created":"2021-10-11T16:57:46.695393+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: SCN5A.","entity_name":"SCN5A","entity_type":"gene"},{"created":"2021-10-11T16:57:06.788266+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNA2D1 as Red List (low evidence)","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T16:57:06.778736+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d1 has been classified as Red List (Low Evidence).","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T16:56:03.104331+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNB2 as ready","entity_name":"CACNB2","entity_type":"gene"},{"created":"2021-10-11T16:56:03.092176+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacnb2 has been classified as Red List (Low Evidence).","entity_name":"CACNB2","entity_type":"gene"},{"created":"2021-10-11T16:55:57.777731+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNB2 as Red List (low evidence)","entity_name":"CACNB2","entity_type":"gene"},{"created":"2021-10-11T16:55:57.765270+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacnb2 has been classified as Red List (Low Evidence).","entity_name":"CACNB2","entity_type":"gene"},{"created":"2021-10-11T16:55:34.479902+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: CACNB2.","entity_name":"CACNB2","entity_type":"gene"},{"created":"2021-10-11T16:55:33.167520+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1293","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC22A5 as Red List (low evidence)","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2021-10-11T16:55:33.158565+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc22a5 has been classified as Red List (Low Evidence).","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2021-10-11T16:55:11.471530+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC22A5 as ready","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2021-10-11T16:55:11.458804+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc22a5 has been classified as Red List (Low Evidence).","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2021-10-11T16:54:04.699171+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC22A5 as Red List (low evidence)","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2021-10-11T16:54:04.687151+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc22a5 has been classified as Red List (Low Evidence).","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2021-10-11T16:53:35.319259+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: SLC22A5.","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2021-10-11T16:52:46.725554+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1292","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPT1 as ready","entity_name":"PNPT1","entity_type":"gene"},{"created":"2021-10-11T16:52:46.714069+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpt1 has been classified as Green List (High Evidence).","entity_name":"PNPT1","entity_type":"gene"},{"created":"2021-10-11T16:52:32.385498+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC4A3 as ready","entity_name":"SLC4A3","entity_type":"gene"},{"created":"2021-10-11T16:52:32.365141+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc4a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC4A3","entity_type":"gene"},{"created":"2021-10-11T16:52:03.114282+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC4A3 as Amber List (moderate evidence)","entity_name":"SLC4A3","entity_type":"gene"},{"created":"2021-10-11T16:52:03.089443+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc4a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC4A3","entity_type":"gene"},{"created":"2021-10-11T16:51:35.870902+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC4A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Short QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC4A3","entity_type":"gene"},{"created":"2021-10-11T16:50:08.416633+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNH2 were set to 34557911","entity_name":"KCNH2","entity_type":"gene"},{"created":"2021-10-11T16:49:53.312544+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNQ1 were set to 34557911","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2021-10-11T16:49:41.635436+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1292","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPT1 were changed from  to Combined oxidative phosphorylation deficiency 13, MIM# 614932","entity_name":"PNPT1","entity_type":"gene"},{"created":"2021-10-11T16:49:26.582390+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KCNJ2 was changed from  to Other","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-10-11T16:48:38.977355+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNJ2","entity_type":"gene"},{"created":"2021-10-11T16:48:36.832043+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4194","user_name":"Krithika Murali","item_type":"entity","text":"gene: THG1L was added\ngene: THG1L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: THG1L were set to 33682303\nPhenotypes for gene: THG1L were set to Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy; Intellectual Disability\nReview for gene: THG1L was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families of Ashkenazi Jewish descent with compound heterozygous variants ( p.Cys51Trp and p.Val55Ala) presented with profound developmental delays, microcephaly, intractable epilepsy, and cerebellar hypoplasia.\r\n\r\nHomozygous variants associated with ataxia phenotype. \nSources: Literature","entity_name":"THG1L","entity_type":"gene"},{"created":"2021-10-11T16:47:42.593013+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNH2 were set to ","entity_name":"KCNH2","entity_type":"gene"},{"created":"2021-10-11T16:47:22.096191+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNQ1 were set to ","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2021-10-11T16:46:52.302545+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1291","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNPT1 as Green List (high evidence)","entity_name":"PNPT1","entity_type":"gene"},{"created":"2021-10-11T16:46:52.290362+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpt1 has been classified as Green List (High Evidence).","entity_name":"PNPT1","entity_type":"gene"},{"created":"2021-10-11T16:46:49.753000+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1290","user_name":"Belinda Chong","item_type":"entity","text":"gene: SLC22A5 was added\ngene: SLC22A5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC22A5 were set to PMID: 33005244\nPhenotypes for gene: SLC22A5 were set to Intractable epilepsy\nReview for gene: SLC22A5 was set to RED\nAdded comment: Two sisters with intractable epilepsy and reversible metabolic cardiomyopathy. Potential mutations in the SLC22A5 gene were investigated within the family, and a nonsense mutation [c.760C>T (p.R254X)] was identified in four family members. The two sisters harboured homozygous mutations, whereas their parents presented heterozygous mutations.\r\n\r\nMetabolic disease screening revealed low plasma free carnitine levels (<5 µmol/l) in the two sisters. The plasma free carnitine levels of their parents were normal, and they were asymptomatic. PCD in the two patients was managed using oral levocarnitine. \nSources: Literature","entity_name":"SLC22A5","entity_type":"gene"},{"created":"2021-10-11T16:46:10.769607+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1290","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 13, MIM# 614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNPT1","entity_type":"gene"},{"created":"2021-10-11T16:45:14.222532+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KCNH2 was changed from  to Other","entity_name":"KCNH2","entity_type":"gene"},{"created":"2021-10-11T16:44:58.874180+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2021-10-11T16:44:24.551315+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNH2","entity_type":"gene"},{"created":"2021-10-11T16:44:15.085414+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHF6 as ready","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-10-11T16:44:15.066910+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf6 has been classified as Green List (High Evidence).","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-10-11T16:43:49.143062+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1290","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PHF6 as Green List (high evidence)","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-10-11T16:43:49.131473+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phf6 has been classified as Green List (High Evidence).","entity_name":"PHF6","entity_type":"gene"},{"created":"2021-10-11T16:43:33.478135+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1289","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGM3 as ready","entity_name":"PGM3","entity_type":"gene"},{"created":"2021-10-11T16:43:33.468868+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm3 has been classified as Amber List (Moderate Evidence).","entity_name":"PGM3","entity_type":"gene"},{"created":"2021-10-11T16:43:15.198662+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1289","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PGM3 as Amber List (moderate evidence)","entity_name":"PGM3","entity_type":"gene"},{"created":"2021-10-11T16:43:15.187875+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgm3 has been classified as Amber List (Moderate Evidence).","entity_name":"PGM3","entity_type":"gene"},{"created":"2021-10-11T16:42:42.099236+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1288","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PGM3","entity_type":"gene"},{"created":"2021-10-11T16:41:29.011034+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TARS2 as ready","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-11T16:41:29.000982+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tars2 has been classified as Green List (High Evidence).","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-11T16:40:52.281205+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1288","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TARS2 as Green List (high evidence)","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-11T16:40:52.271152+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tars2 has been classified as Green List (High Evidence).","entity_name":"TARS2","entity_type":"gene"},{"created":"2021-10-11T16:40:34.141439+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1287","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX19 as ready","entity_name":"TBX19","entity_type":"gene"},{"created":"2021-10-11T16:40:34.100385+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx19 has been classified as Green List (High Evidence).","entity_name":"TBX19","entity_type":"gene"},{"created":"2021-10-11T16:40:11.907426+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1287","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBX19 as Green List (high evidence)","entity_name":"TBX19","entity_type":"gene"},{"created":"2021-10-11T16:40:11.896388+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx19 has been classified as Green List (High Evidence).","entity_name":"TBX19","entity_type":"gene"},{"created":"2021-10-11T16:39:14.882933+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THG1L as ready","entity_name":"THG1L","entity_type":"gene"},{"created":"2021-10-11T16:39:14.870957+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thg1l has been classified as Amber List (Moderate Evidence).","entity_name":"THG1L","entity_type":"gene"},{"created":"2021-10-11T16:39:08.786065+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC12 as ready","entity_name":"TRAPPC12","entity_type":"gene"},{"created":"2021-10-11T16:39:08.781844+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1286","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Three unrelated families with consistent phenotype including microcephaly and seizures.","entity_name":"TRAPPC12","entity_type":"gene"},{"created":"2021-10-11T16:39:08.759658+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc12 has been classified as Green List (High Evidence).","entity_name":"TRAPPC12","entity_type":"gene"},{"created":"2021-10-11T16:38:56.066824+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1286","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THG1L were changed from Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy to Spinocerebellar ataxia, autosomal recessive 28 - 618800; Epilepsy; Intellectual disability","entity_name":"THG1L","entity_type":"gene"},{"created":"2021-10-11T16:38:10.870635+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1285","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THG1L as Amber List (moderate evidence)","entity_name":"THG1L","entity_type":"gene"},{"created":"2021-10-11T16:38:10.860044+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1285","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thg1l has been classified as Amber List (Moderate Evidence).","entity_name":"THG1L","entity_type":"gene"},{"created":"2021-10-11T16:37:16.839252+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1284","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAPPC12 as Green List (high evidence)","entity_name":"TRAPPC12","entity_type":"gene"},{"created":"2021-10-11T16:37:16.829370+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc12 has been classified as Green List (High Evidence).","entity_name":"TRAPPC12","entity_type":"gene"},{"created":"2021-10-11T16:36:54.150157+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1283","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPC3 as ready","entity_name":"TRPC3","entity_type":"gene"},{"created":"2021-10-11T16:36:54.138563+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpc3 has been classified as Red List (Low Evidence).","entity_name":"TRPC3","entity_type":"gene"},{"created":"2021-10-11T16:33:20.446205+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1283","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRPC3 as Red List (low evidence)","entity_name":"TRPC3","entity_type":"gene"},{"created":"2021-10-11T16:33:20.433037+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpc3 has been classified as Red List (Low Evidence).","entity_name":"TRPC3","entity_type":"gene"},{"created":"2021-10-11T16:27:22.370939+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.26","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPVT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CASQ2","entity_type":"gene"},{"created":"2021-10-11T16:06:28.799061+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.26","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Triadin knockout syndrome, CPVT, atypical LQTS phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TRDN","entity_type":"gene"},{"created":"2021-10-11T16:01:38.151821+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1282","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536827; Phenotypes: Pontocerebellar hypoplasia, type 6 MIM#611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-10-11T15:59:14.721178+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COLGALT1 as ready","entity_name":"COLGALT1","entity_type":"gene"},{"created":"2021-10-11T15:59:14.712090+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: colgalt1 has been classified as Amber List (Moderate Evidence).","entity_name":"COLGALT1","entity_type":"gene"},{"created":"2021-10-11T15:59:09.518364+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1282","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COLGALT1 as Amber List (moderate evidence)","entity_name":"COLGALT1","entity_type":"gene"},{"created":"2021-10-11T15:59:09.505853+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: colgalt1 has been classified as Amber List (Moderate Evidence).","entity_name":"COLGALT1","entity_type":"gene"},{"created":"2021-10-11T15:58:38.752880+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1281","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COLGALT1 was added\ngene: COLGALT1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COLGALT1 were set to 30412317; 33709034; 31759980\nPhenotypes for gene: COLGALT1 were set to Brain small vessel disease 3 MIM#618360\nReview for gene: COLGALT1 was set to AMBER\nAdded comment: 3 unrelated families with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy, lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. A null mouse model was embryonic lethal, but had defects in the vascular networks of the embryos.\r\n\r\nRefractory seizures part of the presenting phenotype in one family. \nSources: Expert Review","entity_name":"COLGALT1","entity_type":"gene"},{"created":"2021-10-11T15:44:05.684523+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.1","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: SCN5A was added\ngene: SCN5A was added to Short QT syndrome. Sources: Expert Review\nMode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN5A were set to PMID: 34557911\nPhenotypes for gene: SCN5A were set to Short QT syndrome\nReview for gene: SCN5A was set to RED\nAdded comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case with a rare SCN5A variant, however, the expert panel regarded this phenotype as being concordant with Brugada syndrome and not SQTS. \nSources: Expert Review","entity_name":"SCN5A","entity_type":"gene"},{"created":"2021-10-11T15:39:46.564559+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.1","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: CACNA1C was added\ngene: CACNA1C was added to Short QT syndrome. Sources: Expert Review\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1C were set to PMID: 34557911\nPhenotypes for gene: CACNA1C were set to Short QT syndrome\nReview for gene: CACNA1C was set to RED\nAdded comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. 5 probands with suggested SQTS phenotype, 3 had Brugada syndrome with a relatively short QT interval, 1 had HCM without a convincing SQTS phenotype, and the 5th had a reported de novo variant that was too frequent in gnomAD to be associated with SQTS. \nSources: Expert Review","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2021-10-11T15:26:10.470230+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.1","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: CACNA2D1 was added\ngene: CACNA2D1 was added to Short QT syndrome. Sources: Expert Review\nMode of inheritance for gene: CACNA2D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA2D1 were set to PMID: 34557911\nPhenotypes for gene: CACNA2D1 were set to Short QT syndrome\nReview for gene: CACNA2D1 was set to RED\nAdded comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case with cardiac arrest and a short QT interval, variant did not segregate with SQTS and it was present at >1% in the Ashkenazi Jewish population. \nSources: Expert Review","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2021-10-11T15:14:08.293397+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.1","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: CACNB2 was added\ngene: CACNB2 was added to Short QT syndrome. Sources: Expert Review\nMode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNB2 were set to PMID: 34557911\nPhenotypes for gene: CACNB2 were set to Short QT syndrome 1\nReview for gene: CACNB2 was set to RED\nAdded comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case in which the expert panel concluded the phenotype was Brugada syndrome and not SQTS. \nSources: Expert Review","entity_name":"CACNB2","entity_type":"gene"},{"created":"2021-10-11T15:07:33.372750+11:00","panel_name":"Short QT syndrome","panel_id":174,"panel_version":"0.1","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: SLC22A5 was added\ngene: SLC22A5 was added to Short QT syndrome. Sources: Expert Review\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC22A5 were set to PMID: 34557911\nPhenotypes for gene: SLC22A5 were set to Short QT syndrome\nReview for gene: SLC22A5 was set to RED\nAdded comment: SLC22A5 association with short QT syndrome is disputed by the ClinGen expert panel / PMID: 34557911. Variants in SLC22A5 cause AR primary systemic carnitine deficiency (PSCD). Short QC has been demonstrated in a carnitine-deficient mouse model as well as in patients with PSCD. However, the QT interval in these patients returns to normal with carnitine supplementation treatment, so true SQTS and SLC22A5 is disputed. \nSources: Expert Review","entity_name":"SLC22A5","entity_type":"gene"}]}