{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=480","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=478","results":[{"created":"2024-03-22T13:57:00.771029+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2392","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFAP","entity_type":"gene"},{"created":"2024-03-22T13:55:41.328825+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2391","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCH1 as ready","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-03-22T13:55:41.309924+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gch1 has been classified as Green List (High Evidence).","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-03-22T13:55:38.246746+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2391","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCH1 were changed from  to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-03-22T13:55:07.246279+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2390","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GCH1 were set to ","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-03-22T13:54:29.979637+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2389","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GCH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-03-22T13:53:46.039033+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2388","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-03-22T13:53:31.252425+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2388","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GCH1: Added comment: Well established gene-disease association, seizures are part of the phenotype.; Changed publications: 7730309; Changed phenotypes: Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-03-22T13:50:51.513208+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALC as ready","entity_name":"GALC","entity_type":"gene"},{"created":"2024-03-22T13:50:51.501250+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galc has been classified as Green List (High Evidence).","entity_name":"GALC","entity_type":"gene"},{"created":"2024-03-22T13:50:46.878092+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2388","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALC were changed from  to Krabbe disease, MIM# 245200; MONDO:0009499","entity_name":"GALC","entity_type":"gene"},{"created":"2024-03-22T13:50:10.693043+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2387","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GALC were set to ","entity_name":"GALC","entity_type":"gene"},{"created":"2024-03-22T13:49:32.390890+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2386","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GALC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALC","entity_type":"gene"},{"created":"2024-03-22T13:49:00.997943+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2385","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay. There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. Multiple families reported.; to: Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay. There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. Multiple families reported.\r\n\r\nSeizures are part of the phenotype.","entity_name":"GALC","entity_type":"gene"},{"created":"2024-03-22T13:48:19.409480+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2385","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FUCA1 as ready","entity_name":"FUCA1","entity_type":"gene"},{"created":"2024-03-22T13:48:19.401441+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2385","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fuca1 has been classified as Green List (High Evidence).","entity_name":"FUCA1","entity_type":"gene"},{"created":"2024-03-22T13:48:15.780659+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2385","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FUCA1 were changed from  to Fucosidosis, MIM# 230000; MONDO:0009254","entity_name":"FUCA1","entity_type":"gene"},{"created":"2024-03-22T13:47:30.673056+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2384","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FUCA1 were set to ","entity_name":"FUCA1","entity_type":"gene"},{"created":"2024-03-22T13:46:59.338101+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2383","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FUCA1","entity_type":"gene"},{"created":"2024-03-22T13:46:15.907373+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2382","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Well established gene-disease association, multiple families reported.; to: Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Well established gene-disease association, multiple families reported.\r\n\r\nSeizures are part of the phenotype.","entity_name":"FUCA1","entity_type":"gene"},{"created":"2024-03-22T13:45:16.089980+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2382","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FRRS1L as ready","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2024-03-22T13:45:16.079074+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2382","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: frrs1l has been classified as Green List (High Evidence).","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2024-03-22T13:45:12.630542+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2382","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FRRS1L were changed from  to Developmental and epileptic encephalopathy, 37 MONDO:0014859","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2024-03-22T13:44:39.858792+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2381","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FRRS1L were set to ","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2024-03-22T13:44:07.500685+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2380","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FRRS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2024-03-22T13:41:55.153546+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2379","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPM1 as ready","entity_name":"DPM1","entity_type":"gene"},{"created":"2024-03-22T13:41:55.145314+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2379","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpm1 has been classified as Green List (High Evidence).","entity_name":"DPM1","entity_type":"gene"},{"created":"2024-03-22T13:41:49.935601+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2379","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM1 were set to 23856421","entity_name":"DPM1","entity_type":"gene"},{"created":"2024-03-22T13:41:24.612768+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2378","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPM1 were changed from  to Congenital disorder of glycosylation, type Ie, 608799","entity_name":"DPM1","entity_type":"gene"},{"created":"2024-03-22T13:39:56.814316+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2377","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPM1 were set to ","entity_name":"DPM1","entity_type":"gene"},{"created":"2024-03-22T13:39:13.896139+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2376","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM1","entity_type":"gene"},{"created":"2024-03-22T13:38:28.044317+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2375","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ie, 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPM1","entity_type":"gene"},{"created":"2024-03-22T13:37:25.778792+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2375","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNM1L as ready","entity_name":"DNM1L","entity_type":"gene"},{"created":"2024-03-22T13:37:25.769888+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2375","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnm1l has been classified as Green List (High Evidence).","entity_name":"DNM1L","entity_type":"gene"},{"created":"2024-03-22T13:37:08.094140+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2375","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNM1L were changed from Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR) to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR)","entity_name":"DNM1L","entity_type":"gene"},{"created":"2024-03-22T13:36:46.236992+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2374","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNM1L were changed from  to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR)","entity_name":"DNM1L","entity_type":"gene"},{"created":"2024-03-22T13:36:24.718506+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2374","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNM1L was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DNM1L","entity_type":"gene"},{"created":"2024-03-22T13:35:52.577771+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2373","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DNM1L","entity_type":"gene"},{"created":"2024-03-22T13:32:58.207378+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ADPRHL2.","entity_name":"ADPRHL2","entity_type":"gene"},{"created":"2024-03-22T12:56:09.100051+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADPRHL2 as ready","entity_name":"ADPRHL2","entity_type":"gene"},{"created":"2024-03-22T12:56:09.089069+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adprhl2 has been classified as Green List (High Evidence).","entity_name":"ADPRHL2","entity_type":"gene"},{"created":"2024-03-22T12:54:00.352677+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADPRHL2 as Green List (high evidence)","entity_name":"ADPRHL2","entity_type":"gene"},{"created":"2024-03-22T12:54:00.340061+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adprhl2 has been classified as Green List (High Evidence).","entity_name":"ADPRHL2","entity_type":"gene"},{"created":"2024-03-22T12:53:49.990825+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADPRHL2","entity_type":"gene"},{"created":"2024-03-22T12:52:00.278848+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1619","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNE were changed from Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Thrombocytopenia 12 with or without myopathy, MIM#620757; Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)","entity_name":"GNE","entity_type":"gene"},{"created":"2024-03-22T12:51:43.381492+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1618","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GNE: Changed phenotypes: Thrombocytopenia 12 with or without myopathy, MIM#620757, Nonaka myopathy 605820, Sialuria MIM#269921, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)","entity_name":"GNE","entity_type":"gene"},{"created":"2024-03-22T12:51:18.054151+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNE were changed from Thrombocytopaenia; Myopathy to Thrombocytopenia 12 with or without myopathy, MIM#620757","entity_name":"GNE","entity_type":"gene"},{"created":"2024-03-22T12:50:35.518144+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GNE: Changed phenotypes: Thrombocytopenia 12 with or without myopathy, MIM#620757","entity_name":"GNE","entity_type":"gene"},{"created":"2024-03-21T09:40:22.909728+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.184","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ANK2 as ready","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-03-21T09:40:22.892965+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.184","user_name":"Elena Savva","item_type":"entity","text":"Gene: ank2 has been classified as Red List (Low Evidence).","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-03-21T09:40:19.919628+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.184","user_name":"Elena Savva","item_type":"entity","text":"Added comment: Comment on phenotypes: Association is disputed, gene associated to a neurodevelopmental disorder","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-03-21T09:40:19.893327+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.184","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: ANK2 were changed from  to Cardiac arrhythmia, ankyrin-B-related MIM#600919; Long QT syndrome 4 MIM#600919","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-03-21T09:39:39.042684+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.183","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ANK2 as Red List (low evidence)","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-03-21T09:39:39.032094+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.183","user_name":"Elena Savva","item_type":"entity","text":"Gene: ank2 has been classified as Red List (Low Evidence).","entity_name":"ANK2","entity_type":"gene"},{"created":"2024-03-20T15:59:20.079317+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXG1 as ready","entity_name":"FOXG1","entity_type":"gene"},{"created":"2024-03-20T15:59:20.065948+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxg1 has been classified as Green List (High Evidence).","entity_name":"FOXG1","entity_type":"gene"},{"created":"2024-03-20T15:58:53.965327+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXG1 were changed from  to Rett syndrome, congenital variant, MIM# 613454","entity_name":"FOXG1","entity_type":"gene"},{"created":"2024-03-20T15:58:21.970486+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2371","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXG1 were set to ","entity_name":"FOXG1","entity_type":"gene"},{"created":"2024-03-20T15:47:37.474619+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2370","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXG1","entity_type":"gene"},{"created":"2024-03-20T15:46:55.375710+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2369","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXG1","entity_type":"gene"},{"created":"2024-03-20T15:46:03.149051+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2369","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOSC3 as ready","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2024-03-20T15:46:03.140421+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc3 has been classified as Green List (High Evidence).","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2024-03-20T15:45:59.278719+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2369","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOSC3 were changed from  to Pontocerebellar hypoplasia, type 1B, MIM# 614678","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2024-03-20T15:45:27.176096+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2368","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXOSC3 were set to ","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2024-03-20T15:44:49.016422+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2367","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2024-03-20T15:44:15.604442+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2366","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival. Multiple families reported.; to: Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival. Multiple families reported.\r\n\r\nSeizures are part of the phenotype.","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2024-03-20T15:43:46.028537+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2366","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EPM2A as ready","entity_name":"EPM2A","entity_type":"gene"},{"created":"2024-03-20T15:43:46.018313+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2366","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: epm2a has been classified as Green List (High Evidence).","entity_name":"EPM2A","entity_type":"gene"},{"created":"2024-03-20T15:43:41.988336+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2366","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPM2A were changed from Lafora disease MONDO:0009697 to Lafora disease MONDO:0009697","entity_name":"EPM2A","entity_type":"gene"},{"created":"2024-03-20T15:43:14.656090+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2365","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EPM2A were changed from  to Lafora disease MONDO:0009697","entity_name":"EPM2A","entity_type":"gene"},{"created":"2024-03-20T15:42:36.380337+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2364","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EPM2A were set to ","entity_name":"EPM2A","entity_type":"gene"},{"created":"2024-03-20T15:42:03.493701+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2363","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EPM2A","entity_type":"gene"},{"created":"2024-03-20T07:59:41.005167+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1618","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SAMD7 were changed from Macular dystrophy, retinal, SAMD7-related MONDO:0031166 to Macular dystrophy with or without cone dysfunction, MIM# 620762","entity_name":"SAMD7","entity_type":"gene"},{"created":"2024-03-20T07:59:17.138146+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1617","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SAMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macular dystrophy with or without cone dysfunction, MIM# 620762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SAMD7","entity_type":"gene"},{"created":"2024-03-20T07:58:52.227537+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SAMD7 were changed from Macular dystrophy, retinal, SAMD7-related MONDO:0031166 to Macular dystrophy with or without cone dysfunction, MIM# 620762","entity_name":"SAMD7","entity_type":"gene"},{"created":"2024-03-20T07:58:31.097613+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SAMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macular dystrophy with or without cone dysfunction, MIM# 620762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SAMD7","entity_type":"gene"},{"created":"2024-03-19T18:16:06.888321+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1617","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FHL2 as ready","entity_name":"FHL2","entity_type":"gene"},{"created":"2024-03-19T18:16:06.879970+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1617","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fhl2 has been classified as Amber List (Moderate Evidence).","entity_name":"FHL2","entity_type":"gene"},{"created":"2024-03-19T18:15:13.708106+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1617","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FHL2 as Amber List (moderate evidence)","entity_name":"FHL2","entity_type":"gene"},{"created":"2024-03-19T18:15:13.690145+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1617","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fhl2 has been classified as Amber List (Moderate Evidence).","entity_name":"FHL2","entity_type":"gene"},{"created":"2024-03-19T18:14:56.859988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1616","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FHL2 was added\ngene: FHL2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FHL2 were set to 36854411; 25358972\nPhenotypes for gene: FHL2 were set to Cardiomyopathy, MONDO:0004994, FHL2-related\nReview for gene: FHL2 was set to AMBER\nAdded comment: Emerging evidence that variants in this gene may be associated with cardiomyopathy.\r\n\r\nReports of HCM and DCM.\r\n\r\nc.391C>T (p.Arg131Cys) may be recurrent in early-onset DCM. \nSources: Expert Review","entity_name":"FHL2","entity_type":"gene"},{"created":"2024-03-19T18:13:23.444877+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FHL2 as ready","entity_name":"FHL2","entity_type":"gene"},{"created":"2024-03-19T18:13:23.432105+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fhl2 has been classified as Amber List (Moderate Evidence).","entity_name":"FHL2","entity_type":"gene"},{"created":"2024-03-19T18:13:18.791959+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FHL2 as Amber List (moderate evidence)","entity_name":"FHL2","entity_type":"gene"},{"created":"2024-03-19T18:13:18.772617+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fhl2 has been classified as Amber List (Moderate Evidence).","entity_name":"FHL2","entity_type":"gene"},{"created":"2024-03-19T18:13:10.401504+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FHL2 was added\ngene: FHL2 was added to Cardiomyopathy_Paediatric. Sources: Expert Review\nMode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FHL2 were set to 36854411; 25358972\nPhenotypes for gene: FHL2 were set to Cardiomyopathy, MONDO:0004994, FHL2-related\nReview for gene: FHL2 was set to AMBER\nAdded comment: Emerging evidence that variants in this gene may be associated with cardiomyopathy.\r\n\r\nReports of HCM and DCM.\r\n\r\nc.391C>T (p.Arg131Cys) may be recurrent in early-onset DCM. \nSources: Expert Review","entity_name":"FHL2","entity_type":"gene"},{"created":"2024-03-18T18:53:06.917480+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5724","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZFHX3 were set to 37292950","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2024-03-18T18:52:29.094462+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5723","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZFHX3: Added comment: Now published PMID 38412861; Changed publications: 38412861","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2024-03-18T18:52:04.720959+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1615","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZFHX3 were set to ","entity_name":"ZFHX3","entity_type":"gene"},{"created":"2024-03-18T09:44:46.623198+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1614","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZRSR2 as ready","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-03-18T09:44:46.610139+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1614","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zrsr2 has been classified as Green List (High Evidence).","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-03-18T09:44:30.270001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1614","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZRSR2 as Green List (high evidence)","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-03-18T09:44:30.247082+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1614","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zrsr2 has been classified as Green List (High Evidence).","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-03-18T09:44:00.477704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1613","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZRSR2 was added\ngene: ZRSR2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZRSR2 were set to 38158857\nPhenotypes for gene: ZRSR2 were set to Orofacialdigital syndrome MONDO:0015375, ZRSR2-related\nReview for gene: ZRSR2 was set to GREEN\nAdded comment: Oral-facial-digital (OFD) syndrome with brain anomalies ranging from alobar holoprosencephaly to pituitary anomalies.\r\nSix unrelated families with two truncating variants and functional studies:\r\n- p.(Gly404GlufsTer23): detected in one family with 2x affected males\r\n- p.(Arg403GlyfsTer24): 5 unrelated families, both de novo and inherited \nSources: Expert Review","entity_name":"ZRSR2","entity_type":"gene"},{"created":"2024-03-16T13:31:25.624500+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5723","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC32A1 were changed from developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related to Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2024-03-16T13:30:34.611004+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2362","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC32A1 were changed from Genetic epilepsy with febrile seizures plus; Developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related to Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2024-03-16T13:29:56.342597+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2361","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC32A1: Changed phenotypes: Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2024-03-16T13:29:39.401880+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1612","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC32A1 were changed from Genetic epilepsy with febrile seizures plus; Developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related to Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2024-03-16T13:29:12.104201+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1611","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC32A1: Changed phenotypes: Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755","entity_name":"SLC32A1","entity_type":"gene"},{"created":"2024-03-15T16:01:28.325354+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5722","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTRHD1 were changed from Parkinsonism; Intellectual disability to Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747","entity_name":"PTRHD1","entity_type":"gene"}]}