{"count":220694,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=130","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=128","results":[{"created":"2025-11-17T17:31:03.248194+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.498","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flnb has been classified as Green List (High Evidence).","entity_name":"FLNB","entity_type":"gene"},{"created":"2025-11-17T17:31:00.846549+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.498","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLNB were changed from  to filamin-related bone disorder MONDO:0019690","entity_name":"FLNB","entity_type":"gene"},{"created":"2025-11-17T17:30:30.577632+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.497","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FLNB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FLNB","entity_type":"gene"},{"created":"2025-11-17T17:30:01.662331+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: filamin-related bone disorder MONDO:0019690; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FLNB","entity_type":"gene"},{"created":"2025-11-17T17:27:14.989334+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA as ready","entity_name":"GBA","entity_type":"gene"},{"created":"2025-11-17T17:27:14.979838+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Green List (High Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2025-11-17T17:27:12.409953+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBA were changed from  to Gaucher disease, perinatal lethal,MIM# 608013","entity_name":"GBA","entity_type":"gene"},{"created":"2025-11-17T17:26:50.447344+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.495","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GBA were set to ","entity_name":"GBA","entity_type":"gene"},{"created":"2025-11-17T17:26:20.211434+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.494","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBA","entity_type":"gene"},{"created":"2025-11-17T17:25:46.074494+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GBA: Changed phenotypes: Gaucher disease, perinatal lethal,MIM# 608013","entity_name":"GBA","entity_type":"gene"},{"created":"2025-11-17T17:25:27.597074+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31192173; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBA","entity_type":"gene"},{"created":"2025-11-17T16:20:23.446224+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3570","user_name":"Krithika Murali","item_type":"entity","text":"Phenotypes for gene: KLHL13 were changed from HMSN to Neurodevelopmental disorder, MONDO:0700092, KLHL13-related","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T16:20:11.152782+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3569","user_name":"Krithika Murali","item_type":"entity","text":"Publications for gene: KLHL13 were set to 24627108","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T16:19:51.643126+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3568","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: KLHL13 as Green List (high evidence)","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T16:19:51.633093+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3568","user_name":"Krithika Murali","item_type":"entity","text":"Gene: klhl13 has been classified as Green List (High Evidence).","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T16:15:45.503714+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.109","user_name":"Krithika Murali","item_type":"panel","text":"Copied gene KLHL13 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2025-11-17T16:15:45.290089+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.109","user_name":"Krithika Murali","item_type":"entity","text":"gene: KLHL13 was added\ngene: KLHL13 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KLHL13 were set to PMID: 41159445\nPhenotypes for gene: KLHL13 were set to Neurodevelopmental disorder, MONDO:0700092, KLHL13-related","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T16:15:04.174148+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3567","user_name":"Krithika Murali","item_type":"panel","text":"Added reviews for gene KLHL13 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2025-11-17T16:14:51.143132+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.152","user_name":"Krithika Murali","item_type":"panel","text":"Copied gene KLHL13 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2025-11-17T16:14:50.984866+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.152","user_name":"Krithika Murali","item_type":"entity","text":"gene: KLHL13 was added\ngene: KLHL13 was added to Macrocephaly_Megalencephaly. Sources: Expert Review Green,Literature\nMode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KLHL13 were set to PMID: 41159445\nPhenotypes for gene: KLHL13 were set to Neurodevelopmental disorder, MONDO:0700092, KLHL13-related","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T16:14:15.964147+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.61","user_name":"Krithika Murali","item_type":"panel","text":"Copied gene KLHL13 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2025-11-17T16:14:15.789255+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.61","user_name":"Krithika Murali","item_type":"entity","text":"gene: KLHL13 was added\ngene: KLHL13 was added to Ataxia - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KLHL13 were set to PMID: 41159445\nPhenotypes for gene: KLHL13 were set to Neurodevelopmental disorder, MONDO:0700092, KLHL13-related","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T16:12:34.144487+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.426","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: KLHL13 as Green List (high evidence)","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T16:12:34.134482+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.426","user_name":"Krithika Murali","item_type":"entity","text":"Gene: klhl13 has been classified as Green List (High Evidence).","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T16:12:27.343352+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.425","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: KLHL13 as ready","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T16:12:27.331978+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.425","user_name":"Krithika Murali","item_type":"entity","text":"Gene: klhl13 has been classified as Red List (Low Evidence).","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T16:12:12.588617+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.425","user_name":"Krithika Murali","item_type":"entity","text":"gene: KLHL13 was added\ngene: KLHL13 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KLHL13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KLHL13 were set to PMID: 41159445\nPhenotypes for gene: KLHL13 were set to Neurodevelopmental disorder, MONDO:0700092, KLHL13-related\nReview for gene: KLHL13 was set to GREEN\nAdded comment: PMID: 41159445 Akhther et al 2025 (pre-print) report 8 affected individuals from 4 unrelated famlies with hemizygous/heterozygous KLHL13 variants and an X-linked neurodevelopmental disorder with the following phenotypic features including mild-severe ID, developmental delay, macrocephaly, hypotonia, unsteady gait, facial dysmrophism and behavioural issues. Functional studies support LoF disease mechanism. \nSources: Literature","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T08:13:32.463551+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LGI4 as ready","entity_name":"LGI4","entity_type":"gene"},{"created":"2025-11-17T08:13:32.453299+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lgi4 has been classified as Green List (High Evidence).","entity_name":"LGI4","entity_type":"gene"},{"created":"2025-11-17T08:13:29.500601+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LGI4 were changed from  to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468","entity_name":"LGI4","entity_type":"gene"},{"created":"2025-11-17T08:13:05.539073+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LGI4 were set to ","entity_name":"LGI4","entity_type":"gene"},{"created":"2025-11-17T08:12:32.062970+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.491","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LGI4","entity_type":"gene"},{"created":"2025-11-17T08:11:53.435166+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.490","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene LGI4 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-16T18:07:40.412533+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.489","user_name":"Zornitza Stark","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from CHRNG.\nSource Literature was added to CHRNG.\nPhenotypes for gene: CHRNG were changed from Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668 to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668","entity_name":"CHRNG","entity_type":"gene"},{"created":"2025-11-16T18:06:18.404076+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.488","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBE1 as ready","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-11-16T18:06:18.393246+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.488","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gbe1 has been classified as Green List (High Evidence).","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-11-16T18:06:15.337125+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.488","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBE1 were changed from  to Glycogen storage disease IV, MIM# 232500","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-11-16T18:05:41.010747+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GBE1 were set to ","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-11-16T18:05:12.927448+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.486","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-11-16T18:04:44.240100+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.485","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Glycogen storage disease type IV is a clinically heterogeneous disorder. The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 groups: perinatal, presenting as fetal akinesia deformation sequence (FADS) and perinatal death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult polyglucosan body disease.\r\n\r\nEstablished gene-disease association.; to: Glycogen storage disease type IV is a clinically heterogeneous disorder. The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 groups: perinatal, presenting as fetal akinesia deformation sequence (FADS) and perinatal death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult polyglucosan body disease.\r\n\r\nEstablished gene-disease association.\r\n\r\nPerinatal neuromuscular presentation is pertinent to this panel.","entity_name":"GBE1","entity_type":"gene"},{"created":"2025-11-16T18:04:12.933938+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.485","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene GBE1 from panel Glycogen Storage Diseases","entity_name":null,"entity_type":null},{"created":"2025-11-16T18:02:47.545104+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRF6 as ready","entity_name":"IRF6","entity_type":"gene"},{"created":"2025-11-16T18:02:47.534993+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irf6 has been classified as Green List (High Evidence).","entity_name":"IRF6","entity_type":"gene"},{"created":"2025-11-16T18:02:43.185005+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IRF6 were changed from  to Popliteal pterygium syndrome 1MIM#119500","entity_name":"IRF6","entity_type":"gene"},{"created":"2025-11-16T17:59:38.182865+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.483","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IRF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRF6","entity_type":"gene"},{"created":"2025-11-16T17:59:11.842725+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.482","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Popliteal pterygium syndrome 1MIM#119500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRF6","entity_type":"gene"},{"created":"2025-11-16T17:57:52.274417+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.482","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ISPD as ready","entity_name":"ISPD","entity_type":"gene"},{"created":"2025-11-16T17:57:52.266054+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.482","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ispd has been classified as Green List (High Evidence).","entity_name":"ISPD","entity_type":"gene"},{"created":"2025-11-16T17:57:49.676190+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.482","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ISPD were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052","entity_name":"ISPD","entity_type":"gene"},{"created":"2025-11-16T17:57:11.607245+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ISPD were set to ","entity_name":"ISPD","entity_type":"gene"},{"created":"2025-11-16T17:56:46.944365+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ISPD","entity_type":"gene"},{"created":"2025-11-16T17:56:22.466073+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. A milder phenotype, presenting with limb-girdle muscular dystrophy has also been reported with bi-allelic variants in this gene.; to: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. A milder phenotype, presenting with limb-girdle muscular dystrophy has also been reported with bi-allelic variants in this gene.\r\n\r\nContractures are part of the phenotype.","entity_name":"ISPD","entity_type":"gene"},{"created":"2025-11-16T17:56:06.922977+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ISPD.","entity_name":"ISPD","entity_type":"gene"},{"created":"2025-11-16T17:55:50.511651+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene ISPD from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-16T17:53:51.177423+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKRP as ready","entity_name":"FKRP","entity_type":"gene"},{"created":"2025-11-16T17:53:51.168460+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkrp has been classified as Green List (High Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2025-11-16T17:53:47.919068+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FKRP were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 MIM#613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 MIM#606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 MIM#607155","entity_name":"FKRP","entity_type":"gene"},{"created":"2025-11-16T17:53:24.237394+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.477","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FKRP were set to ","entity_name":"FKRP","entity_type":"gene"},{"created":"2025-11-16T17:52:57.136047+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.476","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKRP","entity_type":"gene"},{"created":"2025-11-16T17:52:32.666422+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 11592034; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 MIM#613153, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 MIM#606612, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 MIM#607155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKRP","entity_type":"gene"},{"created":"2025-11-16T17:47:03.872374+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKBP10 as ready","entity_name":"FKBP10","entity_type":"gene"},{"created":"2025-11-16T17:47:03.865074+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkbp10 has been classified as Green List (High Evidence).","entity_name":"FKBP10","entity_type":"gene"},{"created":"2025-11-16T17:46:53.783962+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FKBP10 were changed from  to Bruck syndrome 1 MIM#259450","entity_name":"FKBP10","entity_type":"gene"},{"created":"2025-11-16T17:46:22.157415+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.474","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FKBP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKBP10","entity_type":"gene"},{"created":"2025-11-16T17:45:55.678295+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bruck syndrome 1 MIM#259450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKBP10","entity_type":"gene"},{"created":"2025-11-16T17:44:43.005694+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGFR2 as ready","entity_name":"FGFR2","entity_type":"gene"},{"created":"2025-11-16T17:44:42.994381+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr2 has been classified as Green List (High Evidence).","entity_name":"FGFR2","entity_type":"gene"},{"created":"2025-11-16T17:44:40.104706+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGFR2 were changed from  to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410","entity_name":"FGFR2","entity_type":"gene"},{"created":"2025-11-16T17:44:09.509039+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FGFR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGFR2","entity_type":"gene"},{"created":"2025-11-16T17:43:40.725070+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGFR2","entity_type":"gene"},{"created":"2025-11-16T17:42:23.260292+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGFR3 as ready","entity_name":"FGFR3","entity_type":"gene"},{"created":"2025-11-16T17:42:23.249422+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr3 has been classified as Red List (Low Evidence).","entity_name":"FGFR3","entity_type":"gene"},{"created":"2025-11-16T17:42:18.375076+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGFR3 as Red List (low evidence)","entity_name":"FGFR3","entity_type":"gene"},{"created":"2025-11-16T17:42:18.364821+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgfr3 has been classified as Red List (Low Evidence).","entity_name":"FGFR3","entity_type":"gene"},{"created":"2025-11-16T17:41:54.531209+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"FGFR3","entity_type":"gene"},{"created":"2025-11-16T17:39:38.464682+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOSC3 as ready","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2025-11-16T17:39:38.454967+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc3 has been classified as Red List (Low Evidence).","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2025-11-16T17:39:36.359957+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.470","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":"2025-11-16T17:39:05.334782+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXOSC3 were set to ","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2025-11-16T17:38:44.714359+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.468","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":"2025-11-16T17:38:18.681383+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.467","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EXOSC3 as Red List (low evidence)","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2025-11-16T17:38:18.671325+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.467","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc3 has been classified as Red List (Low Evidence).","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2025-11-16T17:37:55.074539+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: None; Publications: 23284067; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2025-11-16T17:31:09.800272+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.424","user_name":"Zornitza Stark","item_type":"entity","text":"Source Literature was added to QSER1.\nRating Changed from No List (delete) to Red List (low evidence)","entity_name":"QSER1","entity_type":"gene"},{"created":"2025-11-16T17:30:38.226623+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.423","user_name":"Zornitza Stark","item_type":"entity","text":"All sources for gene: QSER1 were removed","entity_name":"QSER1","entity_type":"gene"},{"created":"2025-11-16T17:30:24.718019+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.422","user_name":"Zornitza Stark","item_type":"entity","text":"All sources for gene: QSER1 were removed","entity_name":"QSER1","entity_type":"gene"},{"created":"2025-11-16T17:29:30.883898+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: QSER1 as ready","entity_name":"QSER1","entity_type":"gene"},{"created":"2025-11-16T17:29:30.875752+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qser1 has been classified as Red List (Low Evidence).","entity_name":"QSER1","entity_type":"gene"},{"created":"2025-11-16T17:26:59.604803+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.271","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOL10 as ready","entity_name":"NOL10","entity_type":"gene"},{"created":"2025-11-16T17:26:59.594815+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.271","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nol10 has been classified as Red List (Low Evidence).","entity_name":"NOL10","entity_type":"gene"},{"created":"2025-11-16T17:26:32.248482+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.271","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene NOL10 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-16T17:26:31.895590+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.271","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOL10 was added\ngene: NOL10 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NOL10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NOL10 were set to 41093997\nPhenotypes for gene: NOL10 were set to NOL10-related neurological disorder MONDO:0100545","entity_name":"NOL10","entity_type":"gene"},{"created":"2025-11-16T17:25:23.248257+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3566","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOL10 as ready","entity_name":"NOL10","entity_type":"gene"},{"created":"2025-11-16T17:25:23.238303+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3566","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nol10 has been classified as Red List (Low Evidence).","entity_name":"NOL10","entity_type":"gene"},{"created":"2025-11-16T17:24:22.461818+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CASP1 were changed from Absent IL18 and lymphopenia but no clinical disease to Inborn error of immunity, MONDO:0003778, CASP1-related; Absent IL18 and lymphopenia but no clinical disease","entity_name":"CASP1","entity_type":"gene"},{"created":"2025-11-16T17:23:32.631260+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3566","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CASP1 were changed from Absent IL18 and lymphopenia but no clinical disease to Inborn error of immunity, MONDO:0003778, CASP1-related; Absent IL18 and lymphopenia but no clinical disease","entity_name":"CASP1","entity_type":"gene"},{"created":"2025-11-16T17:20:11.310548+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.270","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BAIAP2 as ready","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T17:20:11.302866+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: baiap2 has been classified as Green List (High Evidence).","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T17:17:54.931760+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HDAC6 as ready","entity_name":"HDAC6","entity_type":"gene"},{"created":"2025-11-16T17:17:54.919291+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac6 has been classified as Red List (Low Evidence).","entity_name":"HDAC6","entity_type":"gene"}]}