{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=491","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=489","results":[{"created":"2024-02-13T16:38:55.451434+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2250","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp2r5d has been classified as Green List (High Evidence).","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-02-13T16:38:49.618877+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2250","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPP2R5D were set to ","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-02-13T16:38:09.443025+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2249","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP2R5D as Green List (high evidence)","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-02-13T16:38:09.431001+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp2r5d has been classified as Green List (High Evidence).","entity_name":"PPP2R5D","entity_type":"gene"},{"created":"2024-02-13T16:36:53.997694+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2248","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMGNT2 as ready","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2024-02-13T16:36:53.979532+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2248","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomgnt2 has been classified as Amber List (Moderate Evidence).","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2024-02-13T16:36:47.418309+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2248","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POMGNT2 as Amber List (moderate evidence)","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2024-02-13T16:36:47.407712+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2248","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomgnt2 has been classified as Amber List (Moderate Evidence).","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2024-02-13T16:36:08.754015+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2247","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2024-02-13T16:33:20.946840+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2247","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POGZ as ready","entity_name":"POGZ","entity_type":"gene"},{"created":"2024-02-13T16:33:20.935507+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pogz has been classified as Green List (High Evidence).","entity_name":"POGZ","entity_type":"gene"},{"created":"2024-02-13T16:33:08.160604+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2247","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POGZ as Green List (high evidence)","entity_name":"POGZ","entity_type":"gene"},{"created":"2024-02-13T16:33:08.144755+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pogz has been classified as Green List (High Evidence).","entity_name":"POGZ","entity_type":"gene"},{"created":"2024-02-13T16:32:08.224727+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1534","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLXNC1 as ready","entity_name":"PLXNC1","entity_type":"gene"},{"created":"2024-02-13T16:32:08.209027+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1534","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plxnc1 has been classified as Red List (Low Evidence).","entity_name":"PLXNC1","entity_type":"gene"},{"created":"2024-02-13T16:31:57.782337+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1534","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLXNC1 was added\ngene: PLXNC1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PLXNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLXNC1 were set to 36808730\nPhenotypes for gene: PLXNC1 were set to Malformations of cortical development\nReview for gene: PLXNC1 was set to RED\nAdded comment: This gene was included in the genes4epilepsy resource (PMID:36808730) and was reported as being associated with the clinical phenotype \"malformations of cortical development\". There are no current PubMed articles linking this gene with epilepsy however \nSources: Expert list","entity_name":"PLXNC1","entity_type":"gene"},{"created":"2024-02-13T16:31:34.988800+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2246","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLXNC1 as ready","entity_name":"PLXNC1","entity_type":"gene"},{"created":"2024-02-13T16:31:34.980516+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2246","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plxnc1 has been classified as Red List (Low Evidence).","entity_name":"PLXNC1","entity_type":"gene"},{"created":"2024-02-13T16:31:25.454318+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2246","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLXNC1 as Red List (low evidence)","entity_name":"PLXNC1","entity_type":"gene"},{"created":"2024-02-13T16:31:25.440978+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2246","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plxnc1 has been classified as Red List (Low Evidence).","entity_name":"PLXNC1","entity_type":"gene"},{"created":"2024-02-13T16:25:32.271886+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2245","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX13 as ready","entity_name":"PEX13","entity_type":"gene"},{"created":"2024-02-13T16:25:32.260182+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex13 has been classified as Green List (High Evidence).","entity_name":"PEX13","entity_type":"gene"},{"created":"2024-02-13T16:25:25.729630+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2245","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX13 as Green List (high evidence)","entity_name":"PEX13","entity_type":"gene"},{"created":"2024-02-13T16:25:25.720777+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex13 has been classified as Green List (High Evidence).","entity_name":"PEX13","entity_type":"gene"},{"created":"2024-02-13T16:23:58.556421+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2244","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX10 as ready","entity_name":"PEX10","entity_type":"gene"},{"created":"2024-02-13T16:23:58.537758+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex10 has been classified as Red List (Low Evidence).","entity_name":"PEX10","entity_type":"gene"},{"created":"2024-02-13T16:23:24.416560+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2244","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX10 as Red List (low evidence)","entity_name":"PEX10","entity_type":"gene"},{"created":"2024-02-13T16:23:24.405113+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex10 has been classified as Red List (Low Evidence).","entity_name":"PEX10","entity_type":"gene"},{"created":"2024-02-13T16:22:24.951282+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCLO as ready","entity_name":"PCLO","entity_type":"gene"},{"created":"2024-02-13T16:22:24.931617+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pclo has been classified as Red List (Low Evidence).","entity_name":"PCLO","entity_type":"gene"},{"created":"2024-02-13T16:22:17.508515+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2243","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCLO as Red List (low evidence)","entity_name":"PCLO","entity_type":"gene"},{"created":"2024-02-13T16:22:17.499553+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pclo has been classified as Red List (Low Evidence).","entity_name":"PCLO","entity_type":"gene"},{"created":"2024-02-13T16:20:40.872159+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2242","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX6 as ready","entity_name":"PAX6","entity_type":"gene"},{"created":"2024-02-13T16:20:40.846897+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2242","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax6 has been classified as Amber List (Moderate Evidence).","entity_name":"PAX6","entity_type":"gene"},{"created":"2024-02-13T16:20:35.143227+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2242","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAX6 as Amber List (moderate evidence)","entity_name":"PAX6","entity_type":"gene"},{"created":"2024-02-13T16:20:35.128505+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2242","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax6 has been classified as Amber List (Moderate Evidence).","entity_name":"PAX6","entity_type":"gene"},{"created":"2024-02-13T16:18:43.303752+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2241","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAK3 as ready","entity_name":"PAK3","entity_type":"gene"},{"created":"2024-02-13T16:18:43.294539+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2241","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pak3 has been classified as Amber List (Moderate Evidence).","entity_name":"PAK3","entity_type":"gene"},{"created":"2024-02-13T16:18:37.763985+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2241","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAK3 as Amber List (moderate evidence)","entity_name":"PAK3","entity_type":"gene"},{"created":"2024-02-13T16:18:37.751430+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2241","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pak3 has been classified as Amber List (Moderate Evidence).","entity_name":"PAK3","entity_type":"gene"},{"created":"2024-02-13T16:17:03.269851+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2240","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OFD1 as ready","entity_name":"OFD1","entity_type":"gene"},{"created":"2024-02-13T16:17:03.254170+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2240","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ofd1 has been classified as Amber List (Moderate Evidence).","entity_name":"OFD1","entity_type":"gene"},{"created":"2024-02-13T16:16:56.423925+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2240","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OFD1 as Amber List (moderate evidence)","entity_name":"OFD1","entity_type":"gene"},{"created":"2024-02-13T16:16:56.412318+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2240","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ofd1 has been classified as Amber List (Moderate Evidence).","entity_name":"OFD1","entity_type":"gene"},{"created":"2024-02-13T16:12:16.056265+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2239","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR2F1 as ready","entity_name":"NR2F1","entity_type":"gene"},{"created":"2024-02-13T16:12:16.044526+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr2f1 has been classified as Green List (High Evidence).","entity_name":"NR2F1","entity_type":"gene"},{"created":"2024-02-13T16:11:25.890823+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2239","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NR2F1 as Green List (high evidence)","entity_name":"NR2F1","entity_type":"gene"},{"created":"2024-02-13T16:11:25.878949+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr2f1 has been classified as Green List (High Evidence).","entity_name":"NR2F1","entity_type":"gene"},{"created":"2024-02-13T16:01:27.777462+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2238","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NF1 as ready","entity_name":"NF1","entity_type":"gene"},{"created":"2024-02-13T16:01:27.769506+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nf1 has been classified as Amber List (Moderate Evidence).","entity_name":"NF1","entity_type":"gene"},{"created":"2024-02-13T16:01:20.805251+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2238","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NF1 as Amber List (moderate evidence)","entity_name":"NF1","entity_type":"gene"},{"created":"2024-02-13T16:01:20.784508+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nf1 has been classified as Amber List (Moderate Evidence).","entity_name":"NF1","entity_type":"gene"},{"created":"2024-02-13T16:00:29.040955+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2237","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCM3AP as ready","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2024-02-13T16:00:29.029284+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm3ap has been classified as Red List (Low Evidence).","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2024-02-13T16:00:23.468142+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2237","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM3AP as Red List (low evidence)","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2024-02-13T16:00:23.451795+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm3ap has been classified as Red List (Low Evidence).","entity_name":"MCM3AP","entity_type":"gene"},{"created":"2024-02-13T15:58:55.899409+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2236","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRPPRC as ready","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2024-02-13T15:58:55.875907+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrpprc has been classified as Amber List (Moderate Evidence).","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2024-02-13T15:58:44.373056+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2236","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRPPRC as Amber List (moderate evidence)","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2024-02-13T15:58:44.355096+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrpprc has been classified as Amber List (Moderate Evidence).","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2024-02-13T15:57:18.329619+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2235","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL3A1 as ready","entity_name":"COL3A1","entity_type":"gene"},{"created":"2024-02-13T15:57:18.308393+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col3a1 has been classified as Green List (High Evidence).","entity_name":"COL3A1","entity_type":"gene"},{"created":"2024-02-13T15:57:11.917788+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2235","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL3A1 as Green List (high evidence)","entity_name":"COL3A1","entity_type":"gene"},{"created":"2024-02-13T15:57:11.907746+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col3a1 has been classified as Green List (High Evidence).","entity_name":"COL3A1","entity_type":"gene"},{"created":"2024-02-13T15:55:29.498118+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2234","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD1 as ready","entity_name":"CHD1","entity_type":"gene"},{"created":"2024-02-13T15:55:29.489951+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2234","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd1 has been classified as Green List (High Evidence).","entity_name":"CHD1","entity_type":"gene"},{"created":"2024-02-13T15:55:12.782909+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2234","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD1 as Green List (high evidence)","entity_name":"CHD1","entity_type":"gene"},{"created":"2024-02-13T15:55:12.770425+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2234","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd1 has been classified as Green List (High Evidence).","entity_name":"CHD1","entity_type":"gene"},{"created":"2024-02-13T15:50:38.674473+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2233","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SERAC1 as Green List (high evidence)","entity_name":"SERAC1","entity_type":"gene"},{"created":"2024-02-13T15:50:38.663142+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2233","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serac1 has been classified as Green List (High Evidence).","entity_name":"SERAC1","entity_type":"gene"},{"created":"2024-02-13T15:45:17.409462+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1533","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASZ1 as ready","entity_name":"CASZ1","entity_type":"gene"},{"created":"2024-02-13T15:45:17.396450+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1533","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casz1 has been classified as Green List (High Evidence).","entity_name":"CASZ1","entity_type":"gene"},{"created":"2024-02-13T15:44:53.800798+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1533","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASZ1 as Green List (high evidence)","entity_name":"CASZ1","entity_type":"gene"},{"created":"2024-02-13T15:44:53.789104+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1533","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casz1 has been classified as Green List (High Evidence).","entity_name":"CASZ1","entity_type":"gene"},{"created":"2024-02-13T15:44:36.382745+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1532","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASZ1 was added\ngene: CASZ1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CASZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CASZ1 were set to 28099117; 36293425; 31268246\nPhenotypes for gene: CASZ1 were set to Dilated cardiomyopathy, MONDO:0005021, CASZ1-related; left ventricular non compaction\nReview for gene: CASZ1 was set to GREEN\nAdded comment: Rare cause of paeditric onsent DCM. at least 3 papers report LoF variants, 2 of which each report a novel de novo frameshift variant in children diagnosed with DCM less than 1 and who died at 11 mths ( PMID: 31268246; Guo 2019) and 22mths (PMID: 36293425, Orlova 2022). Another paper (PMID: 28099117, Qiu 2017) reported a nonsense variant that segregated with DCM in a family in an AD fashion (full text not available). \nSources: Expert list","entity_name":"CASZ1","entity_type":"gene"},{"created":"2024-02-13T15:41:45.814576+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASZ1 as ready","entity_name":"CASZ1","entity_type":"gene"},{"created":"2024-02-13T15:41:45.804987+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casz1 has been classified as Green List (High Evidence).","entity_name":"CASZ1","entity_type":"gene"},{"created":"2024-02-13T15:41:32.991399+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CASZ1 were changed from dilated cardiomyopathy, left ventricular non compaction to Dilated cardiomyopathy, MONDO:0005021, CASZ1-related; left ventricular non compaction","entity_name":"CASZ1","entity_type":"gene"},{"created":"2024-02-13T15:37:32.744972+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASZ1 as Green List (high evidence)","entity_name":"CASZ1","entity_type":"gene"},{"created":"2024-02-13T15:37:32.713434+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casz1 has been classified as Green List (High Evidence).","entity_name":"CASZ1","entity_type":"gene"},{"created":"2024-02-13T15:35:20.294523+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2232","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRCAP as Green List (high evidence)","entity_name":"SRCAP","entity_type":"gene"},{"created":"2024-02-13T15:35:20.283981+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2232","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srcap has been classified as Green List (High Evidence).","entity_name":"SRCAP","entity_type":"gene"},{"created":"2024-02-13T15:34:17.267232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1531","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMC3 were set to 18996922; 25655089; 31334757","entity_name":"SMC3","entity_type":"gene"},{"created":"2024-02-13T15:27:22.150411+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2231","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYNE1 were changed from Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 to Neurodevelopmental disorder, MONDO:0700092","entity_name":"SYNE1","entity_type":"gene"},{"created":"2024-02-13T15:26:07.561746+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2230","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYNE1","entity_type":"gene"},{"created":"2024-02-13T15:23:43.462379+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5696","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAF1C as ready","entity_name":"TAF1C","entity_type":"gene"},{"created":"2024-02-13T15:23:43.451140+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5696","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1c has been classified as Amber List (Moderate Evidence).","entity_name":"TAF1C","entity_type":"gene"},{"created":"2024-02-13T15:22:19.552724+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAOK1 as ready","entity_name":"TAOK1","entity_type":"gene"},{"created":"2024-02-13T15:22:19.540303+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taok1 has been classified as Red List (Low Evidence).","entity_name":"TAOK1","entity_type":"gene"},{"created":"2024-02-13T15:19:44.856325+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5696","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFB9 were set to 22200994","entity_name":"NDUFB9","entity_type":"gene"},{"created":"2024-02-13T15:19:12.793542+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5695","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFB9: Added comment: PMID: 38129218: Thr144Met, listed as ACMG-P, hom in 1x pt with mito complex I deficiency and leukodystrophy, no functional studies, both parents are het. However, this variant has 2 homozygotes in gnomADv4, so unlikely pathogenic.; Changed publications: 22200994, 38129218","entity_name":"NDUFB9","entity_type":"gene"},{"created":"2024-02-13T15:18:21.781858+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.916","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFB9 were set to ","entity_name":"NDUFB9","entity_type":"gene"},{"created":"2024-02-13T15:17:36.697794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1530","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFB9 were set to 22200994","entity_name":"NDUFB9","entity_type":"gene"},{"created":"2024-02-13T15:17:13.058091+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1529","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFB9: Added comment: PMID: 38129218: Thr144Met, listed as ACMG-P, hom in 1x pt with mito complex I deficiency and leukodystrophy, no functional studies, both parents are het.\r\n\r\nHowever, this variant has 2 homozygotes in gnomADv4 so unlikely pathogenic.; Changed publications: 22200994, 38129218","entity_name":"NDUFB9","entity_type":"gene"},{"created":"2024-02-13T15:08:05.392220+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.915","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 38129218; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NDUFB9","entity_type":"gene"},{"created":"2024-02-13T13:39:22.625076+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.68","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: NEK8 as Green List (high evidence)","entity_name":"NEK8","entity_type":"gene"},{"created":"2024-02-13T13:39:22.616496+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.68","user_name":"Elena Savva","item_type":"entity","text":"Gene: nek8 has been classified as Green List (High Evidence).","entity_name":"NEK8","entity_type":"gene"},{"created":"2024-02-13T13:39:03.454740+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.67","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: NEK8 were set to Unpublished ESHG presentation","entity_name":"NEK8","entity_type":"gene"},{"created":"2024-02-12T15:44:53.716603+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1529","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: DNM2: Rating: RED; Mode of pathogenicity: None; Publications: 23092955; Phenotypes: fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO:0014149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNM2","entity_type":"gene"},{"created":"2024-02-09T16:48:48.966638+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NALCN as ready","entity_name":"NALCN","entity_type":"gene"}]}