{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1990","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1988","results":[{"created":"2020-01-14T11:13:50.729031+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC5A7 was added\ngene: SLC5A7 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143; Hereditory motor neuropathy","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2020-01-14T11:13:50.655987+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC25A1 was added\ngene: SLC25A1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A1 were set to ?Myasthenic syndrome, congenital, 23, presynaptic; 618197","entity_name":"SLC25A1","entity_type":"gene"},{"created":"2020-01-14T11:13:50.582588+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC18A3 was added\ngene: SLC18A3 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC18A3 were set to ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239","entity_name":"SLC18A3","entity_type":"gene"},{"created":"2020-01-14T11:13:50.505997+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SCN4A was added\ngene: SCN4A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SCN4A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCN4A were set to Myasthenic syndrome, congenital, 16, 614198","entity_name":"SCN4A","entity_type":"gene"},{"created":"2020-01-14T11:13:50.430197+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RPH3A was added\ngene: RPH3A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: RPH3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPH3A were set to 29441694\nPhenotypes for gene: RPH3A were set to Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis","entity_name":"RPH3A","entity_type":"gene"},{"created":"2020-01-14T11:13:50.353838+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RAPSN was added\ngene: RAPSN was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAPSN were set to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset","entity_name":"RAPSN","entity_type":"gene"},{"created":"2020-01-14T11:13:50.277106+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PREPL was added\ngene: PREPL was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PREPL were set to congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency; ?Myasthenic syndrome, congenital, 22, 616224","entity_name":"PREPL","entity_type":"gene"},{"created":"2020-01-14T11:13:50.198807+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MYO9A was added\ngene: MYO9A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO9A were set to congenital myasthenic syndrome 24, presynaptic 618198","entity_name":"MYO9A","entity_type":"gene"},{"created":"2020-01-14T11:13:50.125214+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MUSK was added\ngene: MUSK was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325","entity_name":"MUSK","entity_type":"gene"},{"created":"2020-01-14T11:13:50.053583+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LRP4 was added\ngene: LRP4 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP4 were set to Myasthenic syndrome, congenital, 17, 616304","entity_name":"LRP4","entity_type":"gene"},{"created":"2020-01-14T11:13:49.971219+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LAMB2 was added\ngene: LAMB2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB2 were set to congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-01-14T11:13:49.892344+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LAMA5 was added\ngene: LAMA5 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMA5 were set to 28544784\nPhenotypes for gene: LAMA5 were set to muscle weakness, myopia, and facial tics","entity_name":"LAMA5","entity_type":"gene"},{"created":"2020-01-14T11:13:49.819141+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GMPPB was added\ngene: GMPPB was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-01-14T11:13:49.742734+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GFPT1 was added\ngene: GFPT1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome","entity_name":"GFPT1","entity_type":"gene"},{"created":"2020-01-14T11:13:49.663079+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DPAGT1 was added\ngene: DPAGT1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; Congenital disorder of glycosylation, type Ij, 608093","entity_name":"DPAGT1","entity_type":"gene"},{"created":"2020-01-14T11:13:49.588157+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DOK7 was added\ngene: DOK7 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial","entity_name":"DOK7","entity_type":"gene"},{"created":"2020-01-14T11:13:49.516545+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COLQ was added\ngene: COLQ was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency","entity_name":"COLQ","entity_type":"gene"},{"created":"2020-01-14T11:13:49.446881+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL13A1 was added\ngene: COL13A1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, 616720","entity_name":"COL13A1","entity_type":"gene"},{"created":"2020-01-14T11:13:49.377060+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHRNG was added\ngene: CHRNG was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNG were set to fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS; Neonatal congenital myasthenia; escobar syndrome; Myasthenia gravis, neonatal transient","entity_name":"CHRNG","entity_type":"gene"},{"created":"2020-01-14T11:13:49.305025+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHRNE was added\ngene: CHRNE was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809","entity_name":"CHRNE","entity_type":"gene"},{"created":"2020-01-14T11:13:49.235045+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHRND was added\ngene: CHRND was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHRND was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, 616322; Myasthenic syndrome, slow-channel congenital, 601462; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323","entity_name":"CHRND","entity_type":"gene"},{"created":"2020-01-14T11:13:49.161583+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHRNB1 was added\ngene: CHRNB1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNB1 were set to Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314","entity_name":"CHRNB1","entity_type":"gene"},{"created":"2020-01-14T11:13:49.090555+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHRNA1 was added\ngene: CHRNA1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2020-01-14T11:13:49.020105+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHAT was added\ngene: CHAT was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Congenital myasthenics syndrome associated with episodic apnea; Myasthenic syndrome, congenital, 6, presynaptic, 254210","entity_name":"CHAT","entity_type":"gene"},{"created":"2020-01-14T11:13:48.949476+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ALG2 was added\ngene: ALG2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG2 were set to Congenital disorder of glycosylation CDG type Ii, 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228","entity_name":"ALG2","entity_type":"gene"},{"created":"2020-01-14T11:13:48.880339+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ALG14 was added\ngene: ALG14 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-01-14T11:13:48.808661+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AGRN was added\ngene: AGRN was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120","entity_name":"AGRN","entity_type":"gene"},{"created":"2020-01-14T11:13:48.763428+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Congenital Myaesthenic Syndrome_RMH","entity_name":null,"entity_type":null},{"created":"2020-01-14T11:01:00.349175+11:00","panel_name":"Heterotaxy_VCGS","panel_id":108,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZMYND10 as ready","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-01-14T11:01:00.325979+11:00","panel_name":"Heterotaxy_VCGS","panel_id":108,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmynd10 has been classified as Green List (High Evidence).","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-01-14T11:00:54.628186+11:00","panel_name":"Heterotaxy_VCGS","panel_id":108,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZMYND10 were changed from  to Ciliary dyskinesia, primary, 22, MIM#615444","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-01-14T11:00:29.290771+11:00","panel_name":"Heterotaxy_VCGS","panel_id":108,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZMYND10 were set to ","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-01-14T11:00:04.739308+11:00","panel_name":"Heterotaxy_VCGS","panel_id":108,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZMYND10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-01-14T10:59:16.309355+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZMYND10 were changed from  to Ciliary dyskinesia, primary, 22, MIM#615444","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-01-14T10:58:55.345234+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZMYND10 were set to ","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-01-14T10:58:32.584882+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZMYND10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-01-14T10:35:37.366441+11:00","panel_name":"Porphyria_RMH","panel_id":3077,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UROS was added\ngene: UROS was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UROS were set to Porphyrias with erosive photodermatosis; Porphyria, congenital erythropoietic 263700","entity_name":"UROS","entity_type":"gene"},{"created":"2020-01-14T10:35:37.296461+11:00","panel_name":"Porphyria_RMH","panel_id":3077,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UROD was added\ngene: UROD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)","entity_name":"UROD","entity_type":"gene"},{"created":"2020-01-14T10:35:37.226648+11:00","panel_name":"Porphyria_RMH","panel_id":3077,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PPOX was added\ngene: PPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PPOX were set to Porphyria variegata 176200","entity_name":"PPOX","entity_type":"gene"},{"created":"2020-01-14T10:35:37.153862+11:00","panel_name":"Porphyria_RMH","panel_id":3077,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HMBS was added\ngene: HMBS was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HMBS were set to Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000","entity_name":"HMBS","entity_type":"gene"},{"created":"2020-01-14T10:35:37.083472+11:00","panel_name":"Porphyria_RMH","panel_id":3077,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HFE was added\ngene: HFE was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: HFE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HFE were set to {Porphyria cutanea tarda, susceptibility to}, 176100; {Porphyria variegata, susceptibility to}, 176200","entity_name":"HFE","entity_type":"gene"},{"created":"2020-01-14T10:35:37.013841+11:00","panel_name":"Porphyria_RMH","panel_id":3077,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GATA1 was added\ngene: GATA1 was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GATA1 were set to 25251786; 17148589\nPhenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria","entity_name":"GATA1","entity_type":"gene"},{"created":"2020-01-14T10:35:36.942709+11:00","panel_name":"Porphyria_RMH","panel_id":3077,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FECH was added\ngene: FECH was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FECH were set to Protoporphyria, erythropoietic, autosomal recessive, 177000","entity_name":"FECH","entity_type":"gene"},{"created":"2020-01-14T10:35:36.870710+11:00","panel_name":"Porphyria_RMH","panel_id":3077,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CPOX was added\ngene: CPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CPOX were set to Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Harderoporphyria  121300","entity_name":"CPOX","entity_type":"gene"},{"created":"2020-01-14T10:35:36.801680+11:00","panel_name":"Porphyria_RMH","panel_id":3077,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ALAS2 was added\ngene: ALAS2 was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751","entity_name":"ALAS2","entity_type":"gene"},{"created":"2020-01-14T10:35:36.727834+11:00","panel_name":"Porphyria_RMH","panel_id":3077,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ALAD was added\ngene: ALAD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALAD were set to Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias)","entity_name":"ALAD","entity_type":"gene"},{"created":"2020-01-14T10:35:36.681116+11:00","panel_name":"Porphyria_RMH","panel_id":3077,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Porphyria_RMH","entity_name":null,"entity_type":null},{"created":"2020-01-14T10:04:49.832485+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.2","user_name":"Sebastian Lunke","item_type":"entity","text":"Marked gene: ZMYND10 as ready","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-01-14T10:04:49.826885+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.2","user_name":"Sebastian Lunke","item_type":"entity","text":"Added comment: Comment when marking as ready: More than 10 Families with hom and comp het variants and PCD","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-01-14T10:04:49.783680+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.2","user_name":"Sebastian Lunke","item_type":"entity","text":"Gene: zmynd10 has been classified as Green List (High Evidence).","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2020-01-14T10:01:27.190781+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.771","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NR2E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"NR2E1","entity_type":"gene"},{"created":"2020-01-14T10:00:38.867775+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR2E1 as ready","entity_name":"NR2E1","entity_type":"gene"},{"created":"2020-01-14T10:00:38.856164+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr2e1 has been classified as Red List (Low Evidence).","entity_name":"NR2E1","entity_type":"gene"},{"created":"2020-01-14T10:00:27.484006+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NR2E1 as Red List (low evidence)","entity_name":"NR2E1","entity_type":"gene"},{"created":"2020-01-14T10:00:27.471663+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr2e1 has been classified as Red List (Low Evidence).","entity_name":"NR2E1","entity_type":"gene"},{"created":"2020-01-14T09:59:35.303388+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NR2E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"NR2E1","entity_type":"gene"},{"created":"2020-01-13T22:00:28.368291+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTOG as ready","entity_name":"OTOG","entity_type":"gene"},{"created":"2020-01-13T22:00:28.356758+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otog has been classified as Green List (High Evidence).","entity_name":"OTOG","entity_type":"gene"},{"created":"2020-01-13T22:00:21.842858+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OTOG were set to ","entity_name":"OTOG","entity_type":"gene"},{"created":"2020-01-13T22:00:00.517989+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OTOG were changed from  to Deafness, autosomal recessive 18B, MIM#614945","entity_name":"OTOG","entity_type":"gene"},{"created":"2020-01-13T21:49:40.499345+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OTOG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTOG","entity_type":"gene"},{"created":"2020-01-13T17:08:04.816314+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.226","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 23122587; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTOG","entity_type":"gene"},{"created":"2020-01-13T17:07:19.779078+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.226","user_name":"Chern Lim","item_type":"entity","text":"Deleted their review","entity_name":"OTOG","entity_type":"gene"},{"created":"2020-01-13T17:05:14.739224+11:00","panel_name":"Deafness_MelbourneGenomics_VCGS","panel_id":209,"panel_version":"0.226","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 29800624; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTOG","entity_type":"gene"},{"created":"2020-01-13T15:27:11.574043+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VCP was added\ngene: VCP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VCP were set to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320","entity_name":"VCP","entity_type":"gene"},{"created":"2020-01-13T15:27:11.498211+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TTN was added\ngene: TTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTN were set to dilated cardiomyopathy; Distal myopathy; HMERF; Myofibrillar myopathy; Congenital myopathy; Muscular dystrophy, limb-girdle, type 2J, 608807; arthrogryposis","entity_name":"TTN","entity_type":"gene"},{"created":"2020-01-13T15:27:11.421883+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TRIM32 was added\ngene: TRIM32 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110","entity_name":"TRIM32","entity_type":"gene"},{"created":"2020-01-13T15:27:11.344278+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TRAPPC11 was added\ngene: TRAPPC11 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2020-01-13T15:27:11.266447+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TNPO3 was added\ngene: TNPO3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TNPO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TNPO3 were set to Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423","entity_name":"TNPO3","entity_type":"gene"},{"created":"2020-01-13T15:27:11.190043+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TCAP was added\ngene: TCAP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954","entity_name":"TCAP","entity_type":"gene"},{"created":"2020-01-13T15:27:11.114180+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SYNE1 was added\ngene: SYNE1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SYNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998","entity_name":"SYNE1","entity_type":"gene"},{"created":"2020-01-13T15:27:11.038731+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SGCG was added\ngene: SGCG was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700","entity_name":"SGCG","entity_type":"gene"},{"created":"2020-01-13T15:27:10.961272+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SGCD was added\ngene: SGCD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287","entity_name":"SGCD","entity_type":"gene"},{"created":"2020-01-13T15:27:10.883435+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SGCB was added\ngene: SGCB was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286","entity_name":"SGCB","entity_type":"gene"},{"created":"2020-01-13T15:27:10.807462+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SGCA was added\ngene: SGCA was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCA were set to Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099","entity_name":"SGCA","entity_type":"gene"},{"created":"2020-01-13T15:27:10.731687+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PYROXD1 was added\ngene: PYROXD1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYROXD1 were set to 30515627\nPhenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; adult-onset limb girdle muscular dystrophy","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2020-01-13T15:27:10.658741+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POMT2 was added\ngene: POMT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type","entity_name":"POMT2","entity_type":"gene"},{"created":"2020-01-13T15:27:10.580363+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POMT1 was added\ngene: POMT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-01-13T15:27:10.507261+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POMK was added\ngene: POMK was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMK were set to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249","entity_name":"POMK","entity_type":"gene"},{"created":"2020-01-13T15:27:10.432411+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POMGNT2 was added\ngene: POMGNT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2020-01-13T15:27:10.356117+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POMGNT1 was added\ngene: POMGNT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2020-01-13T15:27:10.280594+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POGLUT1 was added\ngene: POGLUT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy","entity_name":"POGLUT1","entity_type":"gene"},{"created":"2020-01-13T15:27:10.206035+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PLEC was added\ngene: PLEC was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLEC were set to Muscular dystrophy with epidermolysis bullosa simplex, 226670","entity_name":"PLEC","entity_type":"gene"},{"created":"2020-01-13T15:27:10.129753+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MTM1 was added\ngene: MTM1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400","entity_name":"MTM1","entity_type":"gene"},{"created":"2020-01-13T15:27:10.055961+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LAMA2 was added\ngene: LAMA2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855","entity_name":"LAMA2","entity_type":"gene"},{"created":"2020-01-13T15:27:09.962125+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ISPD was added\ngene: ISPD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052","entity_name":"ISPD","entity_type":"gene"},{"created":"2020-01-13T15:27:09.887422+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HNRNPDL was added\ngene: HNRNPDL was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, type 1G 609115","entity_name":"HNRNPDL","entity_type":"gene"},{"created":"2020-01-13T15:27:09.811310+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GMPPB was added\ngene: GMPPB was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type","entity_name":"GMPPB","entity_type":"gene"},{"created":"2020-01-13T15:27:09.737591+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FKTN was added\ngene: FKTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800; Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Cardiomyopathy, dilated, 1X, 611615","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-01-13T15:27:09.664185+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FKRP was added\ngene: FKRP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKRP were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-01-13T15:27:09.590784+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FHL1 was added\ngene: FHL1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy","entity_name":"FHL1","entity_type":"gene"},{"created":"2020-01-13T15:27:09.518329+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EMD was added\ngene: EMD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300","entity_name":"EMD","entity_type":"gene"},{"created":"2020-01-13T15:27:09.443925+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DYSF was added\ngene: DYSF was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYSF were set to Myopathy, distal, with anterior tibial onset, 606768; Miyoshi muscular dystrophy 1, 254130; Muscular dystrophy, limb-girdle, type 2B, 253601","entity_name":"DYSF","entity_type":"gene"},{"created":"2020-01-13T15:27:09.372946+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DNAJB6 was added\ngene: DNAJB6 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb-girdle, type 1E, 603511","entity_name":"DNAJB6","entity_type":"gene"},{"created":"2020-01-13T15:27:09.301564+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DMD was added\ngene: DMD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: DMD were set to Duchenne muscular dystrophy 310200; Becker muscular dystrophy 300376","entity_name":"DMD","entity_type":"gene"},{"created":"2020-01-13T15:27:09.226786+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DAG1 was added\ngene: DAG1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-01-13T15:27:09.154058+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL6A3 was added\ngene: COL6A3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A3 were set to Bethlem myopathy 1 158810","entity_name":"COL6A3","entity_type":"gene"},{"created":"2020-01-13T15:27:09.080635+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL6A2 was added\ngene: COL6A2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A2 were set to Bethlem myopathy 1 158810","entity_name":"COL6A2","entity_type":"gene"},{"created":"2020-01-13T15:27:09.005123+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL6A1 was added\ngene: COL6A1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COL6A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A1 were set to Bethlem myopathy 1 158810","entity_name":"COL6A1","entity_type":"gene"},{"created":"2020-01-13T15:27:08.930671+11:00","panel_name":"Limb Girdle Muscular Dystrophy_RMH","panel_id":3071,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CAPN3 was added\ngene: CAPN3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600","entity_name":"CAPN3","entity_type":"gene"}]}