{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=486","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=484","results":[{"created":"2024-02-29T11:22:47.722166+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.48","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: KLF11 were set to 15774581; 26248217; 23589285; 31124255","entity_name":"KLF11","entity_type":"gene"},{"created":"2024-02-29T11:22:33.503586+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KLF11 as Red List (low evidence)","entity_name":"KLF11","entity_type":"gene"},{"created":"2024-02-29T11:22:33.496915+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Association with monogenic diabetes now Refuted Classification - 02/08/2023. ClinGen Monogenic Diabetes GCEP - https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1e38a49-7c12-4514-a2a1-109e04da146f-2023-02-08T170000.000Z?page=1&size=25&search=","entity_name":"KLF11","entity_type":"gene"},{"created":"2024-02-29T11:22:33.469060+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: klf11 has been classified as Red List (Low Evidence).","entity_name":"KLF11","entity_type":"gene"},{"created":"2024-02-29T11:19:39.265308+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1566","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: KLF11 were set to 15774581; 26248217; 23589285; 31124255","entity_name":"KLF11","entity_type":"gene"},{"created":"2024-02-29T11:19:21.734320+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1565","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KLF11 as Red List (low evidence)","entity_name":"KLF11","entity_type":"gene"},{"created":"2024-02-29T11:19:21.730727+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1565","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Association with monogenic diabetes now Refuted \r\nClassification - 02/08/2023. ClinGen Monogenic Diabetes GCEP - https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b1e38a49-7c12-4514-a2a1-109e04da146f-2023-02-08T170000.000Z?page=1&size=25&search=","entity_name":"KLF11","entity_type":"gene"},{"created":"2024-02-29T11:19:21.709289+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1565","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: klf11 has been classified as Red List (Low Evidence).","entity_name":"KLF11","entity_type":"gene"},{"created":"2024-02-27T15:46:08.315044+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.46","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: None; Publications: 30207237, 34900790; Phenotypes: diabetes mellitus MONDO:0005015; Mode of inheritance: Unknown","entity_name":"PPARG","entity_type":"gene"},{"created":"2024-02-27T13:13:07.576778+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1564","user_name":"Hali Van Niel","item_type":"entity","text":"changed review comment from: PMID: 33389382 \r\nCase-sibling study of 92 healthy individuals and 92 type 2 diabetes patients found KLF14 SNPs associated with susceptibility to type 2 diabetes \r\n\r\nPMID: 35081256 \r\nLarge scale association analysis found type 2 susceptibility of KLF14 SNPS appearing to be driven by reduced insulin sensitivity \r\n\r\nPMID: 24486580 \r\nGlobal Meta-analysis found risk allele SNP associated with increased risk of type 2 diabetes (in global population) \nSources: Other; to: Cannot find any evidence of association with mendelian disease \r\n\r\nPMID: 33389382 \r\nCase-sibling study of 92 healthy individuals and 92 type 2 diabetes patients found KLF14 SNPs associated with susceptibility to type 2 diabetes \r\n\r\nPMID: 35081256 \r\nLarge scale association analysis found type 2 susceptibility of KLF14 SNPS appearing to be driven by reduced insulin sensitivity \r\n\r\nPMID: 24486580 \r\nGlobal Meta-analysis found risk allele SNP associated with increased risk of type 2 diabetes (in global population) \r\nSources: Other","entity_name":"KLF14","entity_type":"gene"},{"created":"2024-02-27T13:12:32.708539+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1564","user_name":"Hali Van Niel","item_type":"entity","text":"gene: KLF14 was added\ngene: KLF14 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: KLF14 was set to Unknown\nPublications for gene: KLF14 were set to 33389382; 35081256; 24486580\nPhenotypes for gene: KLF14 were set to diabetes mellitus MONDO:0005015\nReview for gene: KLF14 was set to RED\nAdded comment: PMID: 33389382 \r\nCase-sibling study of 92 healthy individuals and 92 type 2 diabetes patients found KLF14 SNPs associated with susceptibility to type 2 diabetes \r\n\r\nPMID: 35081256 \r\nLarge scale association analysis found type 2 susceptibility of KLF14 SNPS appearing to be driven by reduced insulin sensitivity \r\n\r\nPMID: 24486580 \r\nGlobal Meta-analysis found risk allele SNP associated with increased risk of type 2 diabetes (in global population) \nSources: Other","entity_name":"KLF14","entity_type":"gene"},{"created":"2024-02-27T12:46:53.194563+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1564","user_name":"Hali Van Niel","item_type":"entity","text":"gene: PCSK2 was added\ngene: PCSK2 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: PCSK2 was set to Unknown\nPublications for gene: PCSK2 were set to 26607656; 7698505; 17618154\nPhenotypes for gene: PCSK2 were set to diabetes mellitus MONDO:0005015\nReview for gene: PCSK2 was set to RED\nAdded comment: Cannot find any evidence of association with mendelian disease \r\n\r\nPMID: 26607656 \r\n\r\n10 SNPs genotyped, genetic polymorphisms responsible for glucose homeostasis and incidental diabetes \r\n\r\nPMID: 7698505 \r\nDNA polymorphism found in 11% of non insulin dependent diabetes patients (out of 152 japanese patients) vs 4% in health population (out of 102 japanese patients). \r\n\r\nPMID: 17618154 \r\n29 SNPS analysed across PCSK2, 4 SNPS associated type 2 diabetes in african american population \nSources: Other","entity_name":"PCSK2","entity_type":"gene"},{"created":"2024-02-27T07:37:01.605323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1564","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACO2 were set to 22405087; 25351951; 30689204; 32519519; 25351951","entity_name":"ACO2","entity_type":"gene"},{"created":"2024-02-26T14:30:11.009242+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1563","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2024-02-26T14:29:46.036720+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACO2 were set to 25351951; 22405087","entity_name":"ACO2","entity_type":"gene"},{"created":"2024-02-26T14:29:13.465653+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2024-02-26T14:28:29.503598+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.918","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACO2 were set to 22405087; 25351951; 30689204; 32519519; 25351951","entity_name":"ACO2","entity_type":"gene"},{"created":"2024-02-26T14:27:48.923033+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.917","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2024-02-26T14:26:31.190193+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2326","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN34 as ready","entity_name":"TSEN34","entity_type":"gene"},{"created":"2024-02-26T14:26:31.178776+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2326","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: No publications specifically reporting seizures identified.","entity_name":"TSEN34","entity_type":"gene"},{"created":"2024-02-26T14:26:31.149031+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2326","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2024-02-26T14:26:10.904160+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2326","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN34 as ready","entity_name":"TSEN34","entity_type":"gene"},{"created":"2024-02-26T14:26:10.888692+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2326","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen34 has been classified as Red List (Low Evidence).","entity_name":"TSEN34","entity_type":"gene"},{"created":"2024-02-26T14:23:04.923354+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2326","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDFY3 were changed from ?Microcephaly 18, primary, autosomal dominant  MIM#617520 to Microcephaly 18, primary, autosomal dominant  MIM#617520","entity_name":"WDFY3","entity_type":"gene"},{"created":"2024-02-26T14:21:37.159663+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1562","user_name":"Zornitza Stark","item_type":"entity","text":"Tag STR tag was added to gene: YEATS2.","entity_name":"YEATS2","entity_type":"gene"},{"created":"2024-02-26T14:21:11.744220+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2325","user_name":"Zornitza Stark","item_type":"entity","text":"Tag STR tag was added to gene: YEATS2.","entity_name":"YEATS2","entity_type":"gene"},{"created":"2024-02-26T14:16:02.308842+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2325","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZMIZ1 as Amber List (moderate evidence)","entity_name":"ZMIZ1","entity_type":"gene"},{"created":"2024-02-26T14:16:02.300173+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2325","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmiz1 has been classified as Amber List (Moderate Evidence).","entity_name":"ZMIZ1","entity_type":"gene"},{"created":"2024-02-26T14:15:24.902025+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2324","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZMIZ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZMIZ1","entity_type":"gene"},{"created":"2024-02-26T11:44:35.430735+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2324","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ZSWIM6 as ready","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2024-02-26T11:44:35.416507+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2324","user_name":"Elena Savva","item_type":"entity","text":"Gene: zswim6 has been classified as Green List (High Evidence).","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2024-02-26T11:43:08.748275+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2324","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ZSWIM6 as Green List (high evidence)","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2024-02-26T11:43:08.736116+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2324","user_name":"Elena Savva","item_type":"entity","text":"Gene: zswim6 has been classified as Green List (High Evidence).","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2024-02-26T11:42:08.597708+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2323","user_name":"Elena Savva","item_type":"entity","text":"gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZSWIM6 were set to PMID: 29198722; 33958584\nPhenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis MIM#603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MIM#617865\nReview for gene: ZSWIM6 was set to GREEN\nAdded comment: Seizures listed in OMIM as a feature of both conditions.\r\n\r\nPMID: 29198722 - seven unrelated individuals with a recurrent de novo nonsense variant  p.Arg913* in the penultimate exon. 4/7 confirmed to have seizures or possible seizures.\r\n\r\nPMID: 33958584 - Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations. Proband had the same de novo p.Arg913* variant \nSources: Literature","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2024-02-26T11:33:00.359685+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2322","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ZMIZ1 as ready","entity_name":"ZMIZ1","entity_type":"gene"},{"created":"2024-02-26T11:33:00.347164+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2322","user_name":"Elena Savva","item_type":"entity","text":"Gene: zmiz1 has been classified as Red List (Low Evidence).","entity_name":"ZMIZ1","entity_type":"gene"},{"created":"2024-02-26T11:32:49.014490+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2322","user_name":"Elena Savva","item_type":"entity","text":"gene: ZMIZ1 was added\ngene: ZMIZ1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZMIZ1 were set to PMID: 30639322\nPhenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659\nReview for gene: ZMIZ1 was set to RED\nAdded comment: Seizures (rare) listed in OMIM\r\n\r\nPMID: 30639322 - gene-disease establishing paper. Cohort of 19 probands (16 unrelated), where 3 were reported with seizures. \nSources: Literature","entity_name":"ZMIZ1","entity_type":"gene"},{"created":"2024-02-26T11:10:06.276732+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2321","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ZIC2 as ready","entity_name":"ZIC2","entity_type":"gene"},{"created":"2024-02-26T11:10:06.267639+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2321","user_name":"Elena Savva","item_type":"entity","text":"Gene: zic2 has been classified as Red List (Low Evidence).","entity_name":"ZIC2","entity_type":"gene"},{"created":"2024-02-26T11:08:57.711465+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2321","user_name":"Elena Savva","item_type":"entity","text":"gene: ZIC2 was added\ngene: ZIC2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZIC2 were set to Holoprosencephaly 5 MIM#609637\nReview for gene: ZIC2 was set to RED\nAdded comment: No evidence of SNVs in this gene causing epilepsy/seizures.\r\n\r\nThis gene was listed in the Oliver list. \nSources: Literature","entity_name":"ZIC2","entity_type":"gene"},{"created":"2024-02-26T11:00:48.563086+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2320","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: YEATS2 as ready","entity_name":"YEATS2","entity_type":"gene"},{"created":"2024-02-26T11:00:48.547900+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2320","user_name":"Elena Savva","item_type":"entity","text":"Gene: yeats2 has been classified as Red List (Low Evidence).","entity_name":"YEATS2","entity_type":"gene"},{"created":"2024-02-26T11:00:33.624290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1562","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: YEATS2 as ready","entity_name":"YEATS2","entity_type":"gene"},{"created":"2024-02-26T11:00:33.607615+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1562","user_name":"Elena Savva","item_type":"entity","text":"Gene: yeats2 has been classified as Red List (Low Evidence).","entity_name":"YEATS2","entity_type":"gene"},{"created":"2024-02-26T11:00:03.305268+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2320","user_name":"Elena Savva","item_type":"entity","text":"gene: YEATS2 was added\ngene: YEATS2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: YEATS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: YEATS2 were set to PMID: 22713812; 31539032\nPhenotypes for gene: YEATS2 were set to ?Epilepsy, myoclonic, familial adult, 4 MIM#615127\nReview for gene: YEATS2 was set to RED\nAdded comment: PMID: 22713812 - 13 members of a single family with Benign Adult Familial Myoclonic Epilepsy (BAFME). The average age of onset was 19.5 (range 10–33) years for tremor and 25 (range 19–33) years for seizures.\r\nPMID: 31539032 - Expansions of TTTTA and insertions of TTTCA repeats in intron 1 of YEATS2 segregated in the same family ^. \nSources: Literature","entity_name":"YEATS2","entity_type":"gene"},{"created":"2024-02-26T10:59:42.270288+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1562","user_name":"Elena Savva","item_type":"entity","text":"gene: YEATS2 was added\ngene: YEATS2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: YEATS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: YEATS2 were set to PMID: 22713812; 31539032\nPhenotypes for gene: YEATS2 were set to ?Epilepsy, myoclonic, familial adult, 4 MIM#615127\nReview for gene: YEATS2 was set to RED\nAdded comment: PMID: 22713812 - 13 members of a single family with Benign Adult Familial Myoclonic Epilepsy (BAFME). The average age of onset was 19.5 (range 10–33) years for tremor and 25 (range 19–33) years for seizures.\r\nPMID: 31539032 - Expansions of TTTTA and insertions of TTTCA repeats in intron 1 of YEATS2 segregated in the same family ^. \nSources: Literature","entity_name":"YEATS2","entity_type":"gene"},{"created":"2024-02-26T10:01:44.100321+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2319","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: XPR1 as ready","entity_name":"XPR1","entity_type":"gene"},{"created":"2024-02-26T10:01:44.088564+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2319","user_name":"Elena Savva","item_type":"entity","text":"Gene: xpr1 has been classified as Amber List (Moderate Evidence).","entity_name":"XPR1","entity_type":"gene"},{"created":"2024-02-26T10:01:21.807877+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2319","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: XPR1 as Amber List (moderate evidence)","entity_name":"XPR1","entity_type":"gene"},{"created":"2024-02-26T10:01:21.782528+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2319","user_name":"Elena Savva","item_type":"entity","text":"Gene: xpr1 has been classified as Amber List (Moderate Evidence).","entity_name":"XPR1","entity_type":"gene"},{"created":"2024-02-26T10:00:39.286833+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2318","user_name":"Elena Savva","item_type":"entity","text":"gene: XPR1 was added\ngene: XPR1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: XPR1 were set to PMID: 33433330\nPhenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6 MIM#616413\nReview for gene: XPR1 was set to AMBER\nAdded comment: Seizures (in some patients) listed in OMIM\r\n\r\nPMID: 33433330 \r\n- chet proband (PTC, missense) with paroxysmal kinesigenic dyskinesia with infantile convulsions, and generalized tonic-clonic seizures (GTCS) at the age of 2 years. Both parents were unaffected.\r\n- Only missense in AD disease had been reported.\r\n- Reviews literature, notes seizures 2/12 unrelated individuals, where an additional proband was ?seizures? \nSources: Literature","entity_name":"XPR1","entity_type":"gene"},{"created":"2024-02-26T09:45:44.305909+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2317","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: WDFY3 as ready","entity_name":"WDFY3","entity_type":"gene"},{"created":"2024-02-26T09:45:44.297068+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2317","user_name":"Elena Savva","item_type":"entity","text":"Gene: wdfy3 has been classified as Red List (Low Evidence).","entity_name":"WDFY3","entity_type":"gene"},{"created":"2024-02-26T09:45:12.352313+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2317","user_name":"Elena Savva","item_type":"entity","text":"gene: WDFY3 was added\ngene: WDFY3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: WDFY3 were set to PMID: 31327001\nPhenotypes for gene: WDFY3 were set to ?Microcephaly 18, primary, autosomal dominant  MIM#617520\nReview for gene: WDFY3 was set to RED\nAdded comment: PMID: 31327001 - cohort of 13 probands and mouse model, NONE had reported to have epilepsy/seizures.\r\n\r\nGene was listed as part of the Oliver review for genes associated with epilepsy \nSources: Literature","entity_name":"WDFY3","entity_type":"gene"},{"created":"2024-02-26T09:34:34.017842+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2316","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: WASHC4 as ready","entity_name":"WASHC4","entity_type":"gene"},{"created":"2024-02-26T09:34:33.988765+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2316","user_name":"Elena Savva","item_type":"entity","text":"Gene: washc4 has been classified as Red List (Low Evidence).","entity_name":"WASHC4","entity_type":"gene"},{"created":"2024-02-26T09:34:11.259285+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2316","user_name":"Elena Savva","item_type":"entity","text":"gene: WASHC4 was added\ngene: WASHC4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: WASHC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WASHC4 were set to PMID: 34599609\nPhenotypes for gene: WASHC4 were set to Intellectual developmental disorder, autosomal recessive 43\tMIM#615817\nReview for gene: WASHC4 was set to RED\nAdded comment: PMID: 34599609 - two siblings, only 1 sibling presented with epilepsy with generalized tonic–clonic seizures and received oxcarbazepine (seizure-free on therapy). They were homozygous for a missense, some functional studies supporting pathogenicity.\r\nReview of previous reports did NOT describe any other reports of seizures. \nSources: Literature","entity_name":"WASHC4","entity_type":"gene"},{"created":"2024-02-26T09:25:10.111248+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5705","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: WASHC4 were changed from ?Mental retardation, autosomal recessive 43; OMIM #615817 to Intellectual developmental disorder, autosomal recessive 43\tMIM#615817","entity_name":"WASHC4","entity_type":"gene"},{"created":"2024-02-26T09:24:53.390652+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1561","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: WASHC4 were changed from Mental retardation, autosomal recessive 43, MIM #615817 to Intellectual developmental disorder, autosomal recessive 43\tMIM#615817","entity_name":"WASHC4","entity_type":"gene"},{"created":"2024-02-26T09:22:55.806588+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2315","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: WAC as ready","entity_name":"WAC","entity_type":"gene"},{"created":"2024-02-26T09:22:55.795198+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2315","user_name":"Elena Savva","item_type":"entity","text":"Gene: wac has been classified as Green List (High Evidence).","entity_name":"WAC","entity_type":"gene"},{"created":"2024-02-26T09:22:47.216330+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2315","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: WAC as Green List (high evidence)","entity_name":"WAC","entity_type":"gene"},{"created":"2024-02-26T09:22:47.201399+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2315","user_name":"Elena Savva","item_type":"entity","text":"Gene: wac has been classified as Green List (High Evidence).","entity_name":"WAC","entity_type":"gene"},{"created":"2024-02-26T09:22:11.021807+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2314","user_name":"Elena Savva","item_type":"entity","text":"gene: WAC was added\ngene: WAC was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: WAC were set to PMID: 36420948\nPhenotypes for gene: WAC were set to Desanto-Shinawi syndrome MIM#616708\nReview for gene: WAC was set to GREEN\nAdded comment: Seizures (in some patients) listed in OMIM\r\n\r\nPMID: 36420948 - reviews literature, describes seizures in 10/33 probands \nSources: Literature","entity_name":"WAC","entity_type":"gene"},{"created":"2024-02-26T09:14:22.076223+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1560","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: UGGT1 as ready","entity_name":"UGGT1","entity_type":"gene"},{"created":"2024-02-26T09:14:22.067391+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1560","user_name":"Elena Savva","item_type":"entity","text":"Gene: uggt1 has been classified as Red List (Low Evidence).","entity_name":"UGGT1","entity_type":"gene"},{"created":"2024-02-26T09:14:17.544605+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2313","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: UGGT1 as ready","entity_name":"UGGT1","entity_type":"gene"},{"created":"2024-02-26T09:14:17.535301+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2313","user_name":"Elena Savva","item_type":"entity","text":"Gene: uggt1 has been classified as Red List (Low Evidence).","entity_name":"UGGT1","entity_type":"gene"},{"created":"2024-02-26T09:14:10.061877+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2313","user_name":"Elena Savva","item_type":"entity","text":"gene: UGGT1 was added\ngene: UGGT1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: UGGT1 was set to Unknown\nReview for gene: UGGT1 was set to RED\nAdded comment: Gene was on the Oliver list for epilepsy genes.\r\n\r\nNo gene-disease association paper has been published.\r\n\r\nGnomAD NOT constrained for LOF variants. \nSources: Literature","entity_name":"UGGT1","entity_type":"gene"},{"created":"2024-02-26T09:13:41.011438+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1560","user_name":"Elena Savva","item_type":"entity","text":"gene: UGGT1 was added\ngene: UGGT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UGGT1 was set to Unknown\nReview for gene: UGGT1 was set to RED\nAdded comment: Gene was on the Oliver list for epilepsy genes.\r\n\r\nNo gene-disease association paper has been published.\r\n\r\nGnomAD NOT constrained for LOF variants. \nSources: Literature","entity_name":"UGGT1","entity_type":"gene"},{"created":"2024-02-26T09:01:30.789237+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2312","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: UBTF as Amber List (moderate evidence)","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-02-26T09:01:30.776677+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2312","user_name":"Elena Savva","item_type":"entity","text":"Gene: ubtf has been classified as Amber List (Moderate Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-02-26T09:01:04.393320+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2312","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: UBTF as Amber List (moderate evidence)","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-02-26T09:01:04.381328+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2312","user_name":"Elena Savva","item_type":"entity","text":"Gene: ubtf has been classified as Amber List (Moderate Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-02-26T09:00:54.746062+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2311","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: UBTF as ready","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-02-26T09:00:54.733529+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2311","user_name":"Elena Savva","item_type":"entity","text":"Gene: ubtf has been classified as Red List (Low Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-02-26T09:00:03.243810+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2311","user_name":"Elena Savva","item_type":"entity","text":"gene: UBTF was added\ngene: UBTF was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: UBTF were set to PMID: 30517966\nPhenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672\nReview for gene: UBTF was set to AMBER\nAdded comment: PMID: 30517966 - recurring de novo missense p.Glu210Lys, observed in 11 probands with neurodegeneration. 3/11 had seizures. Paper had an additional proband with this variant and drug-resistant epilepsy. \nSources: Literature","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-02-25T20:43:10.855504+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.196","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FZD5 were changed from Autosomal Dominant Coloboma to Microphthalmia/coloboma 11, MIM# 620731","entity_name":"FZD5","entity_type":"gene"},{"created":"2024-02-25T20:42:48.106763+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.195","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FZD5 as Amber List (moderate evidence)","entity_name":"FZD5","entity_type":"gene"},{"created":"2024-02-25T20:42:48.098275+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fzd5 has been classified as Amber List (Moderate Evidence).","entity_name":"FZD5","entity_type":"gene"},{"created":"2024-02-25T20:42:33.406972+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.194","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FZD5: Changed rating: AMBER","entity_name":"FZD5","entity_type":"gene"},{"created":"2024-02-25T20:42:27.138175+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.194","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FZD5: Changed phenotypes: Microphthalmia/coloboma 11, MIM# 620731","entity_name":"FZD5","entity_type":"gene"},{"created":"2024-02-25T20:42:04.901415+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1559","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FZD5 were changed from Coloboma MONDO:0001476 to Microphthalmia/coloboma 11, MIM# 620731","entity_name":"FZD5","entity_type":"gene"},{"created":"2024-02-25T20:41:47.250548+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1558","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FZD5: Changed phenotypes: Microphthalmia/coloboma 11, MIM# 620731","entity_name":"FZD5","entity_type":"gene"},{"created":"2024-02-25T20:41:31.061572+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FZD5 were changed from Coloboma (MONDO:0001476), FZD5-related to Microphthalmia/coloboma 11, MIM# 620731","entity_name":"FZD5","entity_type":"gene"},{"created":"2024-02-25T20:40:55.285379+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FZD5: Changed phenotypes: Microphthalmia/coloboma 11, MIM# 620731","entity_name":"FZD5","entity_type":"gene"},{"created":"2024-02-25T20:40:04.533312+11:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAB1 were changed from Iron metabolism metabolism, MONDO:0002279, STAB1-related; Hyperferritinaemia without iron overload to Hyperferritinemia, MIM# 620729","entity_name":"STAB1","entity_type":"gene"},{"created":"2024-02-25T20:39:34.667236+11:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperferritinemia, MIM# 620729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAB1","entity_type":"gene"},{"created":"2024-02-25T20:39:09.142601+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1558","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAB1 were changed from Iron metabolism disease (MONDO:0002279), STAB1-related to Hyperferritinemia, MIM# 620729","entity_name":"STAB1","entity_type":"gene"},{"created":"2024-02-25T20:38:47.179361+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1557","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperferritinemia, MIM# 620729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAB1","entity_type":"gene"},{"created":"2024-02-24T23:43:09.059625+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.234","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: NAA15 was added\ngene: NAA15 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NAA15 were set to 38380600\nPhenotypes for gene: NAA15 were set to dystonia; neurodevelopmental delay\nPenetrance for gene: NAA15 were set to unknown\nReview for gene: NAA15 was set to GREEN\nAdded comment: previous 3 cases in literature referenced in 38380600 \nSources: Literature","entity_name":"NAA15","entity_type":"gene"},{"created":"2024-02-23T15:54:00.305195+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2310","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PUM1 were changed from Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719; Spinocerebellar ataxia 47, MIM#\t617931 to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719","entity_name":"PUM1","entity_type":"gene"},{"created":"2024-02-23T15:53:04.009046+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5704","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PUM1 were changed from Spinocerebellar ataxia 47, MIM#617931; intellectual disability; epilepsy to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719","entity_name":"PUM1","entity_type":"gene"},{"created":"2024-02-23T15:52:25.071540+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5703","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PUM1: Changed phenotypes: Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719","entity_name":"PUM1","entity_type":"gene"},{"created":"2024-02-23T15:52:06.728516+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5703","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PUM1: Changed phenotypes: Spinocerebellar ataxia 47, MIM#617931, Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719","entity_name":"PUM1","entity_type":"gene"},{"created":"2024-02-23T15:51:44.927494+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2309","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PUM1 were changed from intellectual disability; epilepsy; Spinocerebellar ataxia 47, MIM#\t617931 to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719; Spinocerebellar ataxia 47, MIM#\t617931","entity_name":"PUM1","entity_type":"gene"},{"created":"2024-02-23T15:51:01.429417+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2308","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PUM1: Changed phenotypes: Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719","entity_name":"PUM1","entity_type":"gene"},{"created":"2024-02-23T15:50:43.015154+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1557","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PUM1 were changed from Spinocerebellar ataxia 47, MIM# 617931; Neurodevelopmental disorder, MONDO:0700092, PUM1-related to Spinocerebellar ataxia 47, MIM# 617931; Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719","entity_name":"PUM1","entity_type":"gene"},{"created":"2024-02-23T15:50:21.758474+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1556","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PUM1 were set to 29474920; 25768905; 30903679; 31859446","entity_name":"PUM1","entity_type":"gene"},{"created":"2024-02-23T15:50:00.589427+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1555","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PUM1: Changed phenotypes: Spinocerebellar ataxia 47, MIM# 617931, Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719","entity_name":"PUM1","entity_type":"gene"}]}