{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=466","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=464","results":[{"created":"2024-04-23T14:53:54.414565+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PACSIN3 was added\ngene: PACSIN3 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature\nMode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PACSIN3 were set to 38637313\nPhenotypes for gene: PACSIN3 were set to Myopathy, MONDO:0005336, PACSIN3-related\nReview for gene: PACSIN3 was set to AMBER\nAdded comment: Two unrelated families with LoF variants, one homozygous. Muscle phenotype including raised CK. Supportive mouse model. \nSources: Literature","entity_name":"PACSIN3","entity_type":"gene"},{"created":"2024-04-23T14:53:32.693009+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1719","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PACSIN3 as ready","entity_name":"PACSIN3","entity_type":"gene"},{"created":"2024-04-23T14:53:32.680297+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1719","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pacsin3 has been classified as Amber List (Moderate Evidence).","entity_name":"PACSIN3","entity_type":"gene"},{"created":"2024-04-23T14:52:48.709909+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1719","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PACSIN3 as Amber List (moderate evidence)","entity_name":"PACSIN3","entity_type":"gene"},{"created":"2024-04-23T14:52:48.698777+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1719","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pacsin3 has been classified as Amber List (Moderate Evidence).","entity_name":"PACSIN3","entity_type":"gene"},{"created":"2024-04-23T14:52:02.558657+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1718","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PACSIN3 was added\ngene: PACSIN3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PACSIN3 were set to 38637313\nPhenotypes for gene: PACSIN3 were set to Myopathy, MONDO:0005336, PACSIN3-related\nReview for gene: PACSIN3 was set to AMBER\nAdded comment: Two unrelated families with LoF variants, one homozygous. Muscle phenotype including raised CK. Supportive mouse model. \nSources: Literature","entity_name":"PACSIN3","entity_type":"gene"},{"created":"2024-04-23T14:10:42.391694+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PACSIN3 as ready","entity_name":"PACSIN3","entity_type":"gene"},{"created":"2024-04-23T14:10:42.380815+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pacsin3 has been classified as Amber List (Moderate Evidence).","entity_name":"PACSIN3","entity_type":"gene"},{"created":"2024-04-23T14:10:33.566196+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PACSIN3 as Amber List (moderate evidence)","entity_name":"PACSIN3","entity_type":"gene"},{"created":"2024-04-23T14:10:33.555055+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pacsin3 has been classified as Amber List (Moderate Evidence).","entity_name":"PACSIN3","entity_type":"gene"},{"created":"2024-04-23T14:09:43.339241+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PACSIN3 was added\ngene: PACSIN3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PACSIN3 were set to 38637313\nPhenotypes for gene: PACSIN3 were set to Myopathy, MONDO:0005336, PACSIN3-related\nReview for gene: PACSIN3 was set to AMBER\nAdded comment: Two unrelated families with LoF variants, one homozygous. Muscle phenotype including raised CK. Supportive mouse model. \nSources: Literature","entity_name":"PACSIN3","entity_type":"gene"},{"created":"2024-04-23T13:41:09.029294+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association, XLD.; to: Well established gene-disease association, XLD.","entity_name":"MECP2","entity_type":"gene"},{"created":"2024-04-23T12:55:55.646913+10:00","panel_name":"Metabolic Disorders Superpanel","panel_id":3465,"panel_version":"8.132","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Miscellaneous Metabolic Disorders; Congenital Disorders of Glycosylation; Calcium and Phosphate disorders; Fatty Acid Oxidation Defects; Hypertension and Aldosterone disorders; Lysosomal Storage Disorder; Neurotransmitter Defects; Disorders of branched chain amino acid metabolism; Glycogen Storage Diseases; Rhabdomyolysis and Metabolic Myopathy; Inherited vitamin B12 or cobalamin deficiency; Mitochondrial disease; Peroxisomal Disorders; Monogenic Diabetes; Iron metabolism disorders; Dyslipidaemia; Vitamin C Pathway Disorders; Porphyria; Hyperammonaemia","entity_name":null,"entity_type":null},{"created":"2024-04-23T06:56:51.915442+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5781","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Emerging evidence that de novo variants in this gene cause ID. \nSources: Literature; to: Over 100 individuals with ID found to have de novo variants in this gene. Please note difficult to identify on ES.\r\nSources: Literature","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2024-04-23T06:56:30.286528+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1717","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Emerging evidence that de novo variants in this gene cause ID. \nSources: Literature; to: Over 100 individuals with ID found to have de novo variants in this gene. Please note difficult to identify on ES. \r\nSources: Literature","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2024-04-23T06:54:38.082932+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1717","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNU4-2 were set to ","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2024-04-23T06:54:19.496489+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1716","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RNU4-2: Changed publications: 38645094","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2024-04-23T06:54:03.189845+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5781","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNU4-2 were set to ","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2024-04-23T06:53:26.706716+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5780","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RNU4-2: Changed publications: 38645094","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2024-04-22T14:49:51.212424+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5780","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAB21L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar, ocular, craniofacial, and genital syndrome MIM#618479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAB21L1","entity_type":"gene"},{"created":"2024-04-22T14:22:11.544932+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.110","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19500388, 23688511; Phenotypes: Hypophosphatasia, adult 146300 (AD, AR), Hypophosphatasia, childhood 241510 AR, Hypophosphatasia, infantile 241500 AR, Odontohypophosphatasia 146300 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ALPL","entity_type":"gene"},{"created":"2024-04-22T13:52:09.539723+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2599","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SLC12A5: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006147; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLC12A5","entity_type":"gene"},{"created":"2024-04-22T13:37:17.671046+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2599","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SERPINI1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006114; Phenotypes: progressive myoclonus epilepsy MONDO:0020074; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SERPINI1","entity_type":"gene"},{"created":"2024-04-22T12:59:45.090225+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2599","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19710327, 28218389, 23148524; Phenotypes: Developmental and epileptic encephalopathy (MONDO:0100062), generalized epilepsy with febrile seizures plus (MONDO:0018214); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCN1B","entity_type":"gene"},{"created":"2024-04-22T11:39:01.708326+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2599","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SCN1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: generalized epilepsy with febrile seizures plus (MONDO:0018214), Dravet syndrome (MONDO:0100135), developmental and epileptic encephalopathy (MONDO:0100062), familial hemiplegic migraine (MONDO:0000700); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN1A","entity_type":"gene"},{"created":"2024-04-22T11:26:43.415095+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2599","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: RORB: Rating: ; Mode of pathogenicity: None; Publications: 27352968; Phenotypes: epilepsy MONDO:0005027; Mode of inheritance: None","entity_name":"RORB","entity_type":"gene"},{"created":"2024-04-22T10:58:02.256975+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2599","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: NECAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24399846, 30626896; Phenotypes: developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NECAP1","entity_type":"gene"},{"created":"2024-04-22T10:39:02.525862+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2599","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 23086397, 26725113; Phenotypes: childhood-onset epilepsy syndrome MONDO:0020072; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNT1","entity_type":"gene"},{"created":"2024-04-22T09:37:57.775288+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2599","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31056551, https://search.clinicalgenome.org/CCID:004730; Phenotypes: epilepsy MONDO:0005027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EFHC1","entity_type":"gene"},{"created":"2024-04-21T15:04:14.088659+10:00","panel_name":"Progressive Neurological Conditions","panel_id":3377,"panel_version":"16.1","user_name":"Bryony Thompson","item_type":"panel","text":"Changed child panels to: Early-onset Parkinson disease; Brain Calcification; Hereditary Spastic Paraplegia - paediatric; Hereditary Neuropathy_CMT - isolated; Congenital Disorders of Glycosylation; Miscellaneous Metabolic Disorders; Dystonia - isolated/combined; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Motor Neurone Disease; Ataxia - paediatric; Fatty Acid Oxidation Defects; Early-onset Dementia; Hereditary Neuropathy - complex; Lysosomal Storage Disorder; Ataxia - adult onset; Hereditary Spastic Paraplegia - adult onset; Neurotransmitter Defects; Brain Channelopathies; Glycogen Storage Diseases; Rhabdomyolysis and Metabolic Myopathy; Genetic Epilepsy; Mitochondrial disease; Leukodystrophy - paediatric; Dystonia - complex; Leukodystrophy - adult onset; Peroxisomal Disorders; Cerebral vascular malformations; Iron metabolism disorders; Neurodegeneration with brain iron accumulation; Pain syndromes","entity_name":null,"entity_type":null},{"created":"2024-04-21T14:59:25.565875+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.0","user_name":"Bryony Thompson","item_type":"panel","text":"promoted panel to version 2.0","entity_name":null,"entity_type":null},{"created":"2024-04-21T14:58:46.090185+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2024-04-21T14:58:10.234032+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.347","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WDR45 as ready","entity_name":"WDR45","entity_type":"gene"},{"created":"2024-04-21T14:58:10.225613+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.347","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr45 has been classified as Green List (High Evidence).","entity_name":"WDR45","entity_type":"gene"},{"created":"2024-04-21T14:57:56.607039+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.347","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: WDR45 were changed from  to X-linked complex neurodevelopmental disorder MONDO:0100148","entity_name":"WDR45","entity_type":"gene"},{"created":"2024-04-21T14:56:53.042987+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.346","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: WDR45 were set to ","entity_name":"WDR45","entity_type":"gene"},{"created":"2024-04-21T14:55:19.998485+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.345","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: WDR45 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"WDR45","entity_type":"gene"},{"created":"2024-04-21T14:52:53.623334+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.344","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: VPS13A as ready","entity_name":"VPS13A","entity_type":"gene"},{"created":"2024-04-21T14:52:53.614919+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.344","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: vps13a has been classified as Green List (High Evidence).","entity_name":"VPS13A","entity_type":"gene"},{"created":"2024-04-21T14:52:50.210952+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.344","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: VPS13A were changed from  to chorea-acanthocytosis MONDO:0008695","entity_name":"VPS13A","entity_type":"gene"},{"created":"2024-04-21T14:51:37.241774+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.343","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: VPS13A were set to ","entity_name":"VPS13A","entity_type":"gene"},{"created":"2024-04-21T14:50:55.702057+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.342","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: VPS13A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS13A","entity_type":"gene"},{"created":"2024-04-21T14:49:20.178840+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.341","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2024-04-21T14:48:42.905790+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.340","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TUBB4A as ready","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2024-04-21T14:48:42.895023+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.340","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tubb4a has been classified as Red List (Low Evidence).","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2024-04-21T14:15:16.377231+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.340","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TUBB4A as Red List (low evidence)","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2024-04-21T14:15:16.372112+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.340","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: More suitable for the dystonia panel","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2024-04-21T14:15:16.333970+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.340","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tubb4a has been classified as Red List (Low Evidence).","entity_name":"TUBB4A","entity_type":"gene"},{"created":"2024-04-21T14:08:27.646276+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.339","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TH as ready","entity_name":"TH","entity_type":"gene"},{"created":"2024-04-21T14:08:27.637741+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.339","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: th has been classified as Green List (High Evidence).","entity_name":"TH","entity_type":"gene"},{"created":"2024-04-21T14:08:19.954383+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.21","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: OPTN as ready","entity_name":"OPTN","entity_type":"gene"},{"created":"2024-04-21T14:08:19.940634+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.21","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: optn has been classified as Green List (High Evidence).","entity_name":"OPTN","entity_type":"gene"},{"created":"2024-04-21T14:08:12.460171+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.21","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: OPTN were changed from  to Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435)","entity_name":"OPTN","entity_type":"gene"},{"created":"2024-04-21T14:07:24.628515+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.339","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: TH were changed from  to Tyrosine hydroxylase deficiency MONDO:0100064","entity_name":"TH","entity_type":"gene"},{"created":"2024-04-21T14:06:57.643231+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.20","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: OPTN were set to ","entity_name":"OPTN","entity_type":"gene"},{"created":"2024-04-21T14:06:40.643935+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.338","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: TH were set to 20301334; 20301610","entity_name":"TH","entity_type":"gene"},{"created":"2024-04-21T14:06:25.589904+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: OPTN was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"OPTN","entity_type":"gene"},{"created":"2024-04-21T14:05:45.324616+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.337","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: TH were set to ","entity_name":"TH","entity_type":"gene"},{"created":"2024-04-21T14:05:10.190715+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.19","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: OPTN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"OPTN","entity_type":"gene"},{"created":"2024-04-21T14:04:09.220200+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.336","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: TH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TH","entity_type":"gene"},{"created":"2024-04-21T14:02:26.528699+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.335","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SPR as ready","entity_name":"SPR","entity_type":"gene"},{"created":"2024-04-21T14:02:26.514327+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.335","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: spr has been classified as Green List (High Evidence).","entity_name":"SPR","entity_type":"gene"},{"created":"2024-04-21T14:02:12.813975+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.335","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: SPR were changed from  to Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994","entity_name":"SPR","entity_type":"gene"},{"created":"2024-04-21T14:00:10.812691+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.334","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: SPR were set to ","entity_name":"SPR","entity_type":"gene"},{"created":"2024-04-21T13:58:56.343671+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.333","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPR","entity_type":"gene"},{"created":"2024-04-21T13:49:52.576392+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.332","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SLC30A10 as ready","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2024-04-21T13:49:52.565163+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.332","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: slc30a10 has been classified as Green List (High Evidence).","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2024-04-21T13:49:28.004182+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.332","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: SLC30A10 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2024-04-21T13:49:18.737548+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: UBQLN2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"UBQLN2","entity_type":"gene"},{"created":"2024-04-21T13:48:57.789703+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.332","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: SLC30A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2024-04-21T13:48:34.558705+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: UBQLN2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"UBQLN2","entity_type":"gene"},{"created":"2024-04-21T13:47:35.679479+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.331","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: SLC30A10 were set to ","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2024-04-21T13:44:55.105381+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.330","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: SLC30A10 were changed from  to cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0013208","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2024-04-21T13:42:39.273092+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.329","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SPG11 as ready","entity_name":"SPG11","entity_type":"gene"},{"created":"2024-04-21T13:42:39.259919+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.329","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: spg11 has been classified as Green List (High Evidence).","entity_name":"SPG11","entity_type":"gene"},{"created":"2024-04-21T13:42:29.205245+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.329","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPG11","entity_type":"gene"},{"created":"2024-04-21T13:41:23.186326+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.328","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: SPG11 were set to ","entity_name":"SPG11","entity_type":"gene"},{"created":"2024-04-21T13:40:53.634777+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.328","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: SPG11 were changed from hereditary spastic paraplegia 11 MONDO:0011445 to hereditary spastic paraplegia 11 MONDO:0011445","entity_name":"SPG11","entity_type":"gene"},{"created":"2024-04-21T13:40:24.554031+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.327","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: SPG11 were changed from hereditary spastic paraplegia 11 MONDO:0011445 to hereditary spastic paraplegia 11 MONDO:0011445","entity_name":"SPG11","entity_type":"gene"},{"created":"2024-04-21T13:39:55.135639+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.327","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: SPG11 were changed from  to hereditary spastic paraplegia 11 MONDO:0011445","entity_name":"SPG11","entity_type":"gene"},{"created":"2024-04-21T13:39:36.757618+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.326","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RAB39B as ready","entity_name":"RAB39B","entity_type":"gene"},{"created":"2024-04-21T13:39:36.735485+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.326","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rab39b has been classified as Green List (High Evidence).","entity_name":"RAB39B","entity_type":"gene"},{"created":"2024-04-21T13:39:20.835042+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.326","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: RAB39B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RAB39B","entity_type":"gene"},{"created":"2024-04-21T13:37:55.579931+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.325","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: RAB39B were set to ","entity_name":"RAB39B","entity_type":"gene"},{"created":"2024-04-21T13:36:40.642516+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.324","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: RAB39B were changed from  to Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709","entity_name":"RAB39B","entity_type":"gene"},{"created":"2024-04-21T13:32:29.605593+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NEFH as ready","entity_name":"NEFH","entity_type":"gene"},{"created":"2024-04-21T13:32:29.579597+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nefh has been classified as Red List (Low Evidence).","entity_name":"NEFH","entity_type":"gene"},{"created":"2024-04-21T13:32:10.265424+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.323","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PSEN1 as ready","entity_name":"PSEN1","entity_type":"gene"},{"created":"2024-04-21T13:32:10.256326+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.323","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psen1 has been classified as Green List (High Evidence).","entity_name":"PSEN1","entity_type":"gene"},{"created":"2024-04-21T13:31:44.975524+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.323","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: PSEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PSEN1","entity_type":"gene"},{"created":"2024-04-21T13:31:08.428669+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.322","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: PSEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PSEN1","entity_type":"gene"},{"created":"2024-04-21T13:30:57.291904+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NEFH was added\ngene: NEFH was added to Motor Neurone Disease. Sources: ClinGen\nMode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEFH were set to amyotrophic lateral sclerosis MONDO:0004976\nReview for gene: NEFH was set to RED\nAdded comment: Limited gene-disease validity classification by ClinGen ALS spectrum disorders GCEP - 23/03/2023\r\nhttps://search.clinicalgenome.org/CCID:005612 \nSources: ClinGen","entity_name":"NEFH","entity_type":"gene"},{"created":"2024-04-21T13:05:48.347988+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.321","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PSEN1 were set to ","entity_name":"PSEN1","entity_type":"gene"},{"created":"2024-04-21T13:05:02.206278+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.320","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: PSEN1 were changed from  to Alzheimer disease 3 MONDO:0011913","entity_name":"PSEN1","entity_type":"gene"},{"created":"2024-04-21T13:01:50.217434+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.319","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PRKN as ready","entity_name":"PRKN","entity_type":"gene"},{"created":"2024-04-21T13:01:50.206631+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.319","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: prkn has been classified as Green List (High Evidence).","entity_name":"PRKN","entity_type":"gene"},{"created":"2024-04-21T12:54:23.128445+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.319","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: PRKN were changed from  to autosomal recessive juvenile Parkinson disease 2 MONDO:0010820","entity_name":"PRKN","entity_type":"gene"},{"created":"2024-04-21T12:53:46.755623+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.318","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: PRKN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRKN","entity_type":"gene"},{"created":"2024-04-21T10:47:55.424441+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.317","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PARK7 as ready","entity_name":"PARK7","entity_type":"gene"},{"created":"2024-04-21T10:47:55.411880+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.317","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: park7 has been classified as Green List (High Evidence).","entity_name":"PARK7","entity_type":"gene"}]}