{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=742","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=740","results":[{"created":"2022-09-26T19:40:48.143040+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 3B, severe, MIM# 619786","entity_name":"LAMC2","entity_type":"gene"},{"created":"2022-09-26T19:35:09.724032+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMC2 as Red List (low evidence)","entity_name":"LAMC2","entity_type":"gene"},{"created":"2022-09-26T19:35:09.715707+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamc2 has been classified as Red List (Low Evidence).","entity_name":"LAMC2","entity_type":"gene"},{"created":"2022-09-26T19:34:56.551513+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 3B, severe, MIM# 619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMC2","entity_type":"gene"},{"created":"2022-09-26T19:32:45.213912+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type IA, MIM# 104530, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"LAMB3","entity_type":"gene"},{"created":"2022-09-26T19:31:30.650056+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMB2 as ready","entity_name":"LAMB2","entity_type":"gene"},{"created":"2022-09-26T19:31:30.641742+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb2 has been classified as Red List (Low Evidence).","entity_name":"LAMB2","entity_type":"gene"},{"created":"2022-09-26T19:31:25.501178+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMB2 were changed from Pierson syndrome to Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Pierson syndrome, MIM# 609049","entity_name":"LAMB2","entity_type":"gene"},{"created":"2022-09-26T19:31:11.000078+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMB2 as Red List (low evidence)","entity_name":"LAMB2","entity_type":"gene"},{"created":"2022-09-26T19:31:10.991051+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb2 has been classified as Red List (Low Evidence).","entity_name":"LAMB2","entity_type":"gene"},{"created":"2022-09-26T19:30:57.947886+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199, Pierson syndrome, MIM# 609049; Mode of inheritance: None","entity_name":"LAMB2","entity_type":"gene"},{"created":"2022-09-26T19:29:13.268728+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA3 as ready","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-09-26T19:29:13.260205+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama3 has been classified as Red List (Low Evidence).","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-09-26T19:29:08.758185+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional to Epidermolysis bullosa, junctional 2B, severe, MIM# 619784","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-09-26T19:28:51.596189+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMA3 as Red List (low evidence)","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-09-26T19:28:51.586859+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama3 has been classified as Red List (Low Evidence).","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-09-26T19:28:37.925526+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 2B, severe, MIM# 619784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA3","entity_type":"gene"},{"created":"2022-09-26T19:27:32.253744+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: LAMA2.","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-09-26T19:27:19.473822+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-09-26T19:25:52.638015+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: L1CAM.","entity_name":"L1CAM","entity_type":"gene"},{"created":"2022-09-26T19:25:40.738954+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"L1CAM","entity_type":"gene"},{"created":"2022-09-26T18:01:39.020662+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-09-26T17:44:55.568588+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LYST","entity_type":"gene"},{"created":"2022-09-26T17:44:32.268130+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ASL","entity_type":"gene"},{"created":"2022-09-26T17:42:01.843420+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LTBP4-related cutis laxa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-09-26T17:41:18.296502+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-09-26T17:39:19.907475+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LRTOMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-syndromic deafness, prelingual; Mode of inheritance: None","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2022-09-26T17:36:29.378210+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CMT2G, CMT2P; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2022-09-26T17:35:49.333496+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-09-26T17:31:34.665695+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRRC6","entity_type":"gene"},{"created":"2022-09-26T17:29:14.308784+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AHCY","entity_type":"gene"},{"created":"2022-09-26T17:28:11.070984+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2022-09-26T17:26:25.314297+10:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPT2 as ready","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:26:25.303705+10:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpt2 has been classified as Green List (High Evidence).","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:26:20.904645+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGL","entity_type":"gene"},{"created":"2022-09-26T17:26:20.729613+10:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT2.","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:26:01.373917+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT2.","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:25:41.656311+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT2.","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:25:24.235752+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT2.","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:24:47.329942+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.836","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT2.","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:24:25.663459+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"David Amor","item_type":"entity","text":"edited their review of gene: LRP5: Changed phenotypes: osteoporosis-pseudoglioma syndrome, cause exudative vireoretinopathy, osteopetrosis","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-09-26T17:24:23.988445+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT2.","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:24:06.428030+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT2.","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:23:54.611071+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPT2 as ready","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:23:54.592563+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpt2 has been classified as Green List (High Evidence).","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:23:50.549971+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CPT2 were changed from Carnitine palmitoyltransferase 2 deficiency to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:23:38.277417+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CPT2 were set to ","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:23:32.438572+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.203","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-09-26T17:23:23.747417+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT2.","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:23:11.444879+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CPT2","entity_type":"gene"},{"created":"2022-09-26T17:15:21.693626+10:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT1A.","entity_name":"CPT1A","entity_type":"gene"},{"created":"2022-09-26T17:15:02.979158+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.836","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT1A.","entity_name":"CPT1A","entity_type":"gene"},{"created":"2022-09-26T17:12:50.488356+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.203","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACAD9","entity_type":"gene"},{"created":"2022-09-26T17:12:26.553619+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.203","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital myaesthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP4","entity_type":"gene"},{"created":"2022-09-26T17:08:38.119062+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT1A.","entity_name":"CPT1A","entity_type":"gene"},{"created":"2022-09-26T17:07:41.914707+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT1A.","entity_name":"CPT1A","entity_type":"gene"},{"created":"2022-09-26T17:07:32.357028+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CPT1A as ready","entity_name":"CPT1A","entity_type":"gene"},{"created":"2022-09-26T17:07:32.348287+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cpt1a has been classified as Green List (High Evidence).","entity_name":"CPT1A","entity_type":"gene"},{"created":"2022-09-26T17:07:27.961387+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CPT1A were set to ","entity_name":"CPT1A","entity_type":"gene"},{"created":"2022-09-26T17:07:15.583167+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CPT1A.","entity_name":"CPT1A","entity_type":"gene"},{"created":"2022-09-26T17:07:04.242837+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885845; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CPT1A","entity_type":"gene"},{"created":"2022-09-26T17:05:25.053932+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.202","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-09-26T17:03:36.621990+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHB.","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T17:03:20.277371+10:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHB.","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T17:02:40.531196+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHB.","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T17:02:22.954908+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4951","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHB.","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T17:02:16.260700+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.202","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: non-syndromic deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-09-26T17:02:07.127049+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHB.","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T17:01:52.036995+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1672","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHB.","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T17:01:29.849400+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHB.","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T17:00:58.731421+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCKDHB as ready","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T17:00:58.722239+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdhb has been classified as Green List (High Evidence).","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T17:00:54.931966+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease to Maple syrup urine disease, type Ib, MIM# 248600","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T17:00:37.752160+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHB.","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T17:00:27.802991+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-26T16:59:08.615900+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHA.","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-26T16:58:52.687666+10:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHA.","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-26T16:58:34.916953+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4951","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHA.","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-26T16:58:17.769696+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHA.","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-26T16:58:02.287775+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1672","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHA.","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-26T16:57:42.052161+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHA.","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-26T16:57:34.581464+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.201","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-09-26T16:57:26.807162+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCKDHA as ready","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-26T16:57:26.798087+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdha has been classified as Green List (High Evidence).","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-26T16:57:22.781513+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCKDHA were changed from Maple syrup urine disease to Maple syrup urine disease, type Ia, MIM# 248600","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-26T16:57:09.733346+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: BCKDHA.","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-26T16:56:57.219930+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-26T16:55:02.862507+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4951","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DBT as ready","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:55:02.852554+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4951","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dbt has been classified as Green List (High Evidence).","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:54:53.711144+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DBT.","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:54:33.474560+10:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DBT as ready","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:54:33.464621+10:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dbt has been classified as Green List (High Evidence).","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:54:28.582893+10:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DBT.","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:54:07.096003+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DBT as ready","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:54:07.085518+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dbt has been classified as Green List (High Evidence).","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:53:43.649080+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DBT were changed from  to Maple syrup urine disease, type II (MIM#248600)","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:53:16.588646+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4951","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DBT were changed from  to Maple syrup urine disease, type II (MIM#248600)","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:52:53.747234+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"David Amor","item_type":"entity","text":"edited their review of gene: LMOD3: Changed rating: GREEN","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-09-26T16:52:38.964376+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4950","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-26T16:52:16.330332+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.200","user_name":"David Amor","item_type":"entity","text":"reviewed gene: LMOD3: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LMOD3","entity_type":"gene"}]}