{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=513","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=511","results":[{"created":"2023-12-04T20:11:11.629474+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1970","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acy1 has been classified as Green List (High Evidence).","entity_name":"ACY1","entity_type":"gene"},{"created":"2023-12-04T20:09:38.600114+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1969","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADCY5 as ready","entity_name":"ADCY5","entity_type":"gene"},{"created":"2023-12-04T20:09:38.590178+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1969","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adcy5 has been classified as Red List (Low Evidence).","entity_name":"ADCY5","entity_type":"gene"},{"created":"2023-12-04T20:09:34.583294+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1969","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADCY5 were changed from  to Dyskinesia with orofacial involvement MIM#606703","entity_name":"ADCY5","entity_type":"gene"},{"created":"2023-12-04T20:08:45.262293+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1968","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADCY5 as Red List (low evidence)","entity_name":"ADCY5","entity_type":"gene"},{"created":"2023-12-04T20:08:45.239779+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1968","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adcy5 has been classified as Red List (Low Evidence).","entity_name":"ADCY5","entity_type":"gene"},{"created":"2023-12-04T20:08:04.200457+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1967","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskinesia with orofacial involvement MIM#606703; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ADCY5","entity_type":"gene"},{"created":"2023-12-04T19:19:26.851133+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1967","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADNP as ready","entity_name":"ADNP","entity_type":"gene"},{"created":"2023-12-04T19:19:26.830544+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1967","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adnp has been classified as Green List (High Evidence).","entity_name":"ADNP","entity_type":"gene"},{"created":"2023-12-04T19:19:23.429258+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1967","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADNP were changed from Seizures; Epilpesy; Focal Seizures; Absence seizures to Helsmoortel-van der Aa syndrome MIM#615873","entity_name":"ADNP","entity_type":"gene"},{"created":"2023-12-04T19:18:46.250340+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1966","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADNP as Green List (high evidence)","entity_name":"ADNP","entity_type":"gene"},{"created":"2023-12-04T19:18:46.235835+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1966","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adnp has been classified as Green List (High Evidence).","entity_name":"ADNP","entity_type":"gene"},{"created":"2023-12-04T19:17:41.040879+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1965","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BET1 were changed from Muscular dystrophy; Epilepsy to Muscular dystrophy MONDO:0020121","entity_name":"BET1","entity_type":"gene"},{"created":"2023-12-04T19:15:23.599738+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1964","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BET1 as Red List (low evidence)","entity_name":"BET1","entity_type":"gene"},{"created":"2023-12-04T19:15:23.588831+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1964","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bet1 has been classified as Red List (Low Evidence).","entity_name":"BET1","entity_type":"gene"},{"created":"2023-12-04T19:14:16.816928+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1963","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLCN2 were set to 23707145; 19191339; 20037607; 19710712","entity_name":"CLCN2","entity_type":"gene"},{"created":"2023-12-04T19:10:59.091228+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1962","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFDN were changed from  to Epilepsy, MONDO:0015653","entity_name":"AFDN","entity_type":"gene"},{"created":"2023-12-04T19:10:00.650992+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1961","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFDN as ready","entity_name":"AFDN","entity_type":"gene"},{"created":"2023-12-04T19:10:00.636020+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1961","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: afdn has been classified as Red List (Low Evidence).","entity_name":"AFDN","entity_type":"gene"},{"created":"2023-12-04T19:09:50.013816+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1961","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AFDN as Red List (low evidence)","entity_name":"AFDN","entity_type":"gene"},{"created":"2023-12-04T19:09:49.990309+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1961","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: afdn has been classified as Red List (Low Evidence).","entity_name":"AFDN","entity_type":"gene"},{"created":"2023-12-04T19:09:15.509463+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1960","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: AFDN.","entity_name":"AFDN","entity_type":"gene"},{"created":"2023-12-04T19:08:30.392995+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1960","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNTN2 were changed from Epilepsy, MONDO:0015653, CNTN2-related to Epilepsy, MONDO:0015653, CNTN2-related; Epilepsy, myoclonic, familial adult, 5 MIM#615400","entity_name":"CNTN2","entity_type":"gene"},{"created":"2023-12-04T18:58:03.436925+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1393","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CNTN2 as Green List (high evidence)","entity_name":"CNTN2","entity_type":"gene"},{"created":"2023-12-04T18:58:03.426063+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1393","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cntn2 has been classified as Green List (High Evidence).","entity_name":"CNTN2","entity_type":"gene"},{"created":"2023-12-04T18:57:41.001998+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1392","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNTN2 were set to 23518707; 34120799; 34691156","entity_name":"CNTN2","entity_type":"gene"},{"created":"2023-12-04T18:56:46.722147+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1391","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CNTN2: Added comment: Additional family, consanguineous, homozygous variants segregated in 3 affected sibs and was not homozygous in unaffected sib. Seizures later childhood onset and mild ID.; Changed rating: GREEN; Changed publications: 23518707, 37359369; Changed phenotypes: Epilepsy, MONDO:0015653, CNTN2-related","entity_name":"CNTN2","entity_type":"gene"},{"created":"2023-12-04T18:55:26.062308+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1959","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CNTN2 as Green List (high evidence)","entity_name":"CNTN2","entity_type":"gene"},{"created":"2023-12-04T18:55:26.015332+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1959","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cntn2 has been classified as Green List (High Evidence).","entity_name":"CNTN2","entity_type":"gene"},{"created":"2023-12-04T18:54:21.590649+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1958","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGA as ready","entity_name":"AGA","entity_type":"gene"},{"created":"2023-12-04T18:54:21.576589+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aga has been classified as Green List (High Evidence).","entity_name":"AGA","entity_type":"gene"},{"created":"2023-12-04T18:54:17.479083+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1958","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AGA were changed from  to Aspartylglucosaminuria, MIM# 208400","entity_name":"AGA","entity_type":"gene"},{"created":"2023-12-04T18:53:33.226243+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1957","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGA as Green List (high evidence)","entity_name":"AGA","entity_type":"gene"},{"created":"2023-12-04T18:53:33.213323+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1957","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aga has been classified as Green List (High Evidence).","entity_name":"AGA","entity_type":"gene"},{"created":"2023-12-04T18:50:52.923897+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH3A2 as ready","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2023-12-04T18:50:52.911623+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh3a2 has been classified as Green List (High Evidence).","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2023-12-04T18:50:43.564864+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH3A2 were changed from  to Sjogren-Larsson syndrome, MIM# 270200","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2023-12-04T18:50:00.628254+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1955","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALDH3A2 as Green List (high evidence)","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2023-12-04T18:50:00.606824+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1955","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh3a2 has been classified as Green List (High Evidence).","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2023-12-04T18:48:11.237066+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1391","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FA2H were set to 29423566","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:47:48.499374+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1390","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FA2H: Changed publications: 29423566, 31135052, 18463364, 19068277, 20104589","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:47:13.710478+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1390","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association, both peripheral and central features (dystonia, dysarthria, cognitive impairment, and epilepsy), childhood-onset, progressive. \nSources: Expert Review; to: Well established gene-disease association, both peripheral and central features (dystonia, dysarthria, cognitive impairment, and epilepsy), childhood-onset, progressive.\r\n\r\nPubMed: 31135052 – 19 patients from 16 families consistent with a complicated form of SPG. \r\nPubMed:18463364 – 7 individuals identified from a large consanguineous family with SPG. \r\nPubMed: 19068277 – 7 patients from 2 unrelated consanguineous middle eastern families\r\nPubMed: 20104589– Multiple affected individuals in an Omani family. Findings indicated that an abnormal hydroxylation of myelin galactocerebroside lipid components can lead to the progression of a severe phenotype.\r\n\r\nSources: Expert Review","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:46:57.646316+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:FA2H from the panel","entity_name":null,"entity_type":null},{"created":"2023-12-04T18:45:38.470178+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1390","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FA2H as ready","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:45:38.455502+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1390","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fa2h has been classified as Green List (High Evidence).","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:45:26.057747+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1390","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FA2H as Green List (high evidence)","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:45:26.048471+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1390","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fa2h has been classified as Green List (High Evidence).","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:45:07.468491+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1389","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FA2H was added\ngene: FA2H was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FA2H were set to 29423566\nPhenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM#611026\nReview for gene: FA2H was set to GREEN\nAdded comment: Well established gene-disease association, both peripheral and central features (dystonia, dysarthria, cognitive impairment, and epilepsy), childhood-onset, progressive. \nSources: Expert Review","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:42:54.911573+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1954","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FA2H as ready","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:42:54.898768+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1954","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fa2h has been classified as Green List (High Evidence).","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:42:48.034591+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1954","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FA2H as Green List (high evidence)","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:42:48.021968+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1954","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fa2h has been classified as Green List (High Evidence).","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:42:10.708181+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1953","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FA2H was added\ngene: FA2H was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FA2H were set to 29423566\nPhenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM#611026\nReview for gene: FA2H was set to GREEN\nAdded comment: Well established gene-disease association, both peripheral and central features, childhood-onset, progressive. Epilepsy reported in multiple individuals. \nSources: Expert Review","entity_name":"FA2H","entity_type":"gene"},{"created":"2023-12-04T18:19:10.455463+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1952","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EMC1 as ready","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-12-04T18:19:10.437043+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1952","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emc1 has been classified as Green List (High Evidence).","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-12-04T18:18:59.917092+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1952","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EMC1 as Green List (high evidence)","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-12-04T18:18:59.907408+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1952","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emc1 has been classified as Green List (High Evidence).","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-12-04T18:18:23.121357+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1951","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EMC1 was added\ngene: EMC1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: EMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EMC1 were set to 35234901; 26942288\nPhenotypes for gene: EMC1 were set to Neurodevelopmental disorder, MONDO:0700092, EMC1-related\nReview for gene: EMC1 was set to GREEN\nAdded comment: Chung et al 2022 (PMID: 35234901) report 3 unrelated children with severe to profound developmental delay, truncal hypotonia, seizures and cortical visual impairment. A c.1745C > A; p.Pro582His (de novo) variant in EMC1 was found in 2 of the individuals. The other child had EMC1 c.1745C > G; p.Pro582Arg (mosaic; not inherited from mother, father deceased). Variants were identified by WES and confirmed by Sanger sequencing. In a Drosophila model the identified variants didn't rescue the lethality of a null allele. They also found variations in dosage of the wild-type EMC1, specifically in glia, lead to pupal lethality.\r\n\r\nNote variants in this gene are associated with an AR condition as well, but seizures not part of the phenotype. \nSources: Expert Review","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-12-04T14:48:32.756530+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.167","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related to Ciliary dyskinesia, primary, 53, MIM# 620642","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T14:48:17.187339+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.166","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: EFCAB1.","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T14:48:07.846573+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.166","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EFCAB1: Added comment: HGNC approved name is CLXN; Changed phenotypes: Ciliary dyskinesia, primary, 53, MIM# 620642","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T14:47:36.168510+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1388","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: EFCAB1.","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T14:46:02.203445+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1388","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related to Ciliary dyskinesia, primary, 53, MIM# 620642","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T14:45:36.314454+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1387","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EFCAB1: Added comment: Ciliary dyskinesia, primary, 53, MIM# 620642; Changed phenotypes: Ciliary dyskinesia, primary, 53, MIM# 620642","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T14:41:27.755444+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related to Ciliary dyskinesia, primary, 53, MIM# 620642","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T14:40:55.895460+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: EFCAB1.","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T14:40:47.173018+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFCAB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 53, MIM# 620642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T14:26:18.664895+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFCAB1 were changed from Primary ciliary dyskinesia, MONDO:0016575, EFCAB1-related to Ciliary dyskinesia, primary, 53, MIM# 620642","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T14:25:46.625898+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: EFCAB1.","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T14:25:37.768579+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFCAB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 53, MIM# 620642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EFCAB1","entity_type":"gene"},{"created":"2023-12-04T13:57:32.011497+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"edited their review of gene: ALDH3A2: Changed rating: GREEN; Changed phenotypes: Epilepsy, Seizures, Generalized Tonic Clonic Seizures","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2023-12-04T13:56:53.159440+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"changed review comment from: Established gene with variable neurocutaneous phenotype. Causes an inborn error of lipid metabolism. Can present in seizures estimated 35-40% in review paper. Multiple published cases with GTC being the predominant seizure type. Seizures a common feature reported on OMIM. Multiple epilepsy cases reported across various differing cohorts (Northern Europe, Belgium, German, Egypt). Curated on the multiple other panels including intellectual delay, itchyiosis, Mendeliome, leukodystophy, and metabolic disoders. \r\n\r\nSources: Expert Review, Literature; to: Established gene with variable neurocutaneous phenotype. Causes an inborn error of lipid metabolism. Can present in seizures estimated 35-40% in review paper. Multiple published cases with GTC being the predominant seizure type. Seizures a common feature reported on OMIM. Multiple epilepsy cases reported across various differing cohorts (Northern Europe, Belgium, German, Egypt). Curated on the multiple other panels including intellectual delay, Ichthyosis, Mendeliome, leukodystrophy, and metabolic disorders. \r\n\r\nSources: Expert Review, Literature","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2023-12-04T13:55:51.412872+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"changed review comment from: Established gene with variable neurocutaneous phenotype. Can present in seizures estimaed 35-40% in review paper. Multiple published cases with GTC \nSources: Expert Review, Literature; to: Established gene with variable neurocutaneous phenotype. Causes an inborn error of lipid metabolism. Can present in seizures estimated 35-40% in review paper. Multiple published cases with GTC being the predominant seizure type. Seizures a common feature reported on OMIM. Multiple epilepsy cases reported across various differing cohorts (Northern Europe, Belgium, German, Egypt). Curated on the multiple other panels including intellectual delay, itchyiosis, Mendeliome, leukodystophy, and metabolic disoders. \r\n\r\nSources: Expert Review, Literature","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2023-12-04T13:48:46.246445+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"gene: ALDH3A2 was added\ngene: ALDH3A2 was added to Genetic Epilepsy. Sources: Expert Review,Literature\nMode of inheritance for gene: ALDH3A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ALDH3A2 were set to (PMID:32021380,30372562\nAdded comment: Established gene with variable neurocutaneous phenotype. Can present in seizures estimaed 35-40% in review paper. Multiple published cases with GTC \nSources: Expert Review, Literature","entity_name":"ALDH3A2","entity_type":"gene"},{"created":"2023-12-04T13:03:19.285820+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"edited their review of gene: AGA: Changed phenotypes: Seizures, Epilepsy","entity_name":"AGA","entity_type":"gene"},{"created":"2023-12-04T13:00:30.860620+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"gene: AGA was added\ngene: AGA was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGA were set to (PMID: 33439067; 8333236; 19175389; 15036433; 8064811; 8946839; 1756604)\nReview for gene: AGA was set to GREEN\nAdded comment: ASPARTYLGLUCOSAMINURIA (amino acid disorder) a severe lysosomal recessive disorder presenting with CNS, skeletal and connective tissue manifestations. Seizures or epilpesy of various types recorded across the literature. A Finnish cohort reported 1 child and 22 adults with epilepsy. Likely a founder finish mutation common with some cases in Norway and Sweden reported. Case reports of startle epilepsy and Sleep-related hypermotor seizures in aspartylglucosaminuria are also present. Japanese family with 2 siblings with seizures reported outside of common Finnish variant. \nSources: Literature","entity_name":"AGA","entity_type":"gene"},{"created":"2023-12-04T12:50:51.945751+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: CNTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37359369; Phenotypes: ?Epilepsy, myoclonic, familial adult, 5  MIM#615400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CNTN2","entity_type":"gene"},{"created":"2023-12-04T12:35:52.737149+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"gene: AFDN was added\ngene: AFDN was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: AFDN was set to Unknown\nPublications for gene: AFDN were set to (PMID: 31690835; 9679199)\nReview for gene: AFDN was set to RED\nAdded comment: Limited information regarding this gene. 1 published case with epilepsy reported on clinvar however this is part of a CNV deletion involving multiple other genes at the locus.  No neurological phenotype reported apart from a gene as part of larger CNV changes at the locus (terminal 6q deletions) with multiple other genes implicated. Clinical phenotype not on ClinGen, No neurological phenotype reported on OMIM. Pubmed and other literature search returns no results for \"AFDN\" and \"seizures\", \"seizure\" or \"AFDN\" and \"epilepsy\". Not included on other testing panels (panelapp UK). Previous cytogenetic and animal models suggested implication in T6,11 with MLL. \nSources: Literature","entity_name":"AFDN","entity_type":"gene"},{"created":"2023-12-04T12:27:09.423947+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: CLCN2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36374051; Phenotypes: Epilepsy susceptibility MIM#607628; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CLCN2","entity_type":"gene"},{"created":"2023-12-04T12:05:31.938949+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: BET1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34779586; Phenotypes: Muscular dystrophy MONDO:0020121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BET1","entity_type":"gene"},{"created":"2023-12-04T11:47:54.208410+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"gene: ADNP was added\ngene: ADNP was added to Genetic Epilepsy. Sources: Literature,Expert Review\nMode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADNP were set to (PMID: 27054228; 24531329)\nPhenotypes for gene: ADNP were set to Seizures; Epilpesy; Focal Seizures; Absence seizures\nReview for gene: ADNP was set to GREEN\nAdded comment: ADNP related disorders. Review paper showing 12 of 78 patient cohort with seizures of various types - focal, absence. Other features: hypotonia, developmental delay, mild-to-severe intellectual disability, facial dysmorphic features, behavioral problems, sleep disturbance, brain abnormalities, feeding issues, gastrointestinal problems, visual dysfunction, musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies & hearing loss. An older cohort showed 2 of 10 individuals with seizures. Seizures is not the predominant phenotype but a feature in some cases. \nSources: Literature, Expert Review","entity_name":"ADNP","entity_type":"gene"},{"created":"2023-12-04T11:35:10.884156+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"gene: ADCY5 was added\ngene: ADCY5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ADCY5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ADCY5 were set to (PMID: 36003298; 33564903; 27061943)\nReview for gene: ADCY5 was set to AMBER\nAdded comment: AD and AR dyskinesia phenotype. Only one confirmed case of epilepsy of 119 cases, 2 suspected but unconfirmed. Strong dyskinesia phenotype that may have similar overlapping features. Epilepsy/ seizures not a reported phenotype on OMIM. No other cases reported on literature search. Gene not curated on ClinGen. Dystonia, myoclonus and choreoathetosis the predominant phenotype (gene included in Mediliome, CP, channelopathies, dystonia and dyskinesia panels). Caution regarding overlap of epilepsy features and phenotyping but appears to have distinct dyskinesia phenotype. ?Moderate Vs limited evidence. \nSources: Literature","entity_name":"ADCY5","entity_type":"gene"},{"created":"2023-12-04T11:01:10.721460+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"edited their review of gene: ACY1: Changed rating: GREEN","entity_name":"ACY1","entity_type":"gene"},{"created":"2023-12-04T11:00:56.969481+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"changed review comment from: Known ACY1 amino acid disorder with neurological phenotype. Seizures reported as a feature on OMIM. Phenotype includes seizures both febrile and afebrile. One paper with 3 families (1 German, 1 English and 1 Romani) with seizure phenotype. 2 other publications with seizure phenotype. Seizures reported strongly with intercurrent illness. \nSources: Literature; to: Known ACY1 amino acid disorder with neurological phenotype. Seizures reported as a feature on OMIM. Phenotype includes seizures both febrile and afebrile. One paper with 3 families (1 German, 1 English and 1 Romani) with seizure phenotype. 2 other publications with seizure phenotype. Seizures reported strongly with intercurrent illness. \r\nSources: Literature","entity_name":"ACY1","entity_type":"gene"},{"created":"2023-12-04T11:00:45.553234+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"gene: ACY1 was added\ngene: ACY1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACY1 were set to (PMID: 16465618,16274666, 24117009)\nPhenotypes for gene: ACY1 were set to Seizures; Epilepsy; Febrile Seizures\nPenetrance for gene: ACY1 were set to unknown\nAdded comment: Known ACY1 amino acid disorder with neurological phenotype. Seizures reported as a feature on OMIM. Phenotype includes seizures both febrile and afebrile. One paper with 3 families (1 German, 1 English and 1 Romani) with seizure phenotype. 2 other publications with seizure phenotype. Seizures reported strongly with intercurrent illness. \nSources: Literature","entity_name":"ACY1","entity_type":"gene"},{"created":"2023-12-04T10:28:42.152028+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"John Coleman","item_type":"entity","text":"gene: ACTB was added\ngene: ACTB was added to Genetic Epilepsy. Sources: Literature,Expert Review\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTB were set to (PMID:22366783,25052316,31970217)\nPhenotypes for gene: ACTB were set to Seizures; Epilepsy\nReview for gene: ACTB was set to GREEN\nAdded comment: Missense variants cause gain of function and are associated with Baraitser-Winter syndrome. PTC variants result in haploinsufficiency (loss of function) and cause a similar, but distinct phenotype to Baraitser-Winter syndrome. Seizures reported in 50% of cases with ACTB (GENEREVIEWS). 9 individuals with Baraitser-Winter with epilepsy in one paper and 13 with epilepsy in another review. Estimated 50% with Baraitser-Winter with seizures. Seizures also reported in one case of the LOF distinctive Dystonia-deafness syndrome (Brazilian woman). \nSources: Literature, Expert Review","entity_name":"ACTB","entity_type":"gene"},{"created":"2023-12-04T10:00:57.336626+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5619","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNK3 were changed from Neurodevelopmental disorder, WNK3-related (MONDO#0700092) to Prieto syndrome, MIM# 309610","entity_name":"WNK3","entity_type":"gene"},{"created":"2023-12-04T10:00:23.158148+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5618","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Prieto syndrome, MIM# 309610; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"WNK3","entity_type":"gene"},{"created":"2023-12-04T09:59:59.895459+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1950","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNK3 were changed from Neurodevelopmental disorder, WNK3-related (MONDO#0700092) to Prieto syndrome, MIM# 309610","entity_name":"WNK3","entity_type":"gene"},{"created":"2023-12-04T09:59:21.915409+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1949","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WNK3: Changed phenotypes: Prieto syndrome, MIM# 309610","entity_name":"WNK3","entity_type":"gene"},{"created":"2023-12-04T09:59:08.959989+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.237","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNK3 were changed from Neurodevelopmental disorder, WNK3-related (MONDO#0700092) to Prieto syndrome, MIM# 309610","entity_name":"WNK3","entity_type":"gene"},{"created":"2023-12-04T09:58:36.878942+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.236","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WNK3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Prieto syndrome, MIM# 309610; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"WNK3","entity_type":"gene"},{"created":"2023-12-04T09:58:15.462879+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1387","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNK3 were changed from Neurodevelopmental disorder, WNK3-related (MONDO#0700092) to Prieto syndrome, MIM# 309610","entity_name":"WNK3","entity_type":"gene"},{"created":"2023-12-04T09:57:48.440862+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1386","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WNK3: Changed phenotypes: Prieto syndrome, MIM# 309610","entity_name":"WNK3","entity_type":"gene"},{"created":"2023-12-03T09:28:10.550408+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1949","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABHD16A as ready","entity_name":"ABHD16A","entity_type":"gene"},{"created":"2023-12-03T09:28:10.539733+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1949","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abhd16a has been classified as Amber List (Moderate Evidence).","entity_name":"ABHD16A","entity_type":"gene"},{"created":"2023-12-03T09:28:03.048447+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1949","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABHD16A were changed from seizures; myoclonic seizures; developmental delay to Spastic paraplegia 86, autosomal recessive, MIM# 619735; seizures; myoclonic seizures; developmental delay","entity_name":"ABHD16A","entity_type":"gene"},{"created":"2023-12-03T09:27:31.957712+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1948","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABHD16A as Amber List (moderate evidence)","entity_name":"ABHD16A","entity_type":"gene"},{"created":"2023-12-03T09:27:31.944237+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1948","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abhd16a has been classified as Amber List (Moderate Evidence).","entity_name":"ABHD16A","entity_type":"gene"},{"created":"2023-12-03T09:26:51.597495+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1947","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABHD16A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABHD16A","entity_type":"gene"}]}