{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1768","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1766","results":[{"created":"2020-06-17T18:07:46.297417+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3095","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSPB8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HSPB8","entity_type":"gene"},{"created":"2020-06-17T18:07:20.845267+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3094","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32165108, 31403083, 28780615, 15122253, 26718575; Phenotypes: Distal myopathy, Vacuolar myopathy, Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673; Mode of inheritance: None","entity_name":"HSPB8","entity_type":"gene"},{"created":"2020-06-17T17:57:52.914346+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYSF as ready","entity_name":"DYSF","entity_type":"gene"},{"created":"2020-06-17T17:57:52.896880+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dysf has been classified as Green List (High Evidence).","entity_name":"DYSF","entity_type":"gene"},{"created":"2020-06-17T17:57:49.412377+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DYSF were set to ","entity_name":"DYSF","entity_type":"gene"},{"created":"2020-06-17T17:57:07.561604+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJB6 as ready","entity_name":"DNAJB6","entity_type":"gene"},{"created":"2020-06-17T17:57:07.552438+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajb6 has been classified as Green List (High Evidence).","entity_name":"DNAJB6","entity_type":"gene"},{"created":"2020-06-17T17:57:05.420351+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJB6 were set to ","entity_name":"DNAJB6","entity_type":"gene"},{"created":"2020-06-17T17:19:59.961657+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: STAG3 was added\ngene: STAG3 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: STAG3 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAG3","entity_type":"gene"},{"created":"2020-06-17T17:19:59.909830+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SOHLH1 was added\ngene: SOHLH1 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: SOHLH1 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SOHLH1","entity_type":"gene"},{"created":"2020-06-17T17:19:59.858824+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PMM2 was added\ngene: PMM2 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065","entity_name":"PMM2","entity_type":"gene"},{"created":"2020-06-17T17:19:59.804188+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HFM1 was added\ngene: HFM1 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: HFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFM1 were set to Premature ovarian failure 9,615724","entity_name":"HFM1","entity_type":"gene"},{"created":"2020-06-17T17:19:59.755821+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FSHB was added\ngene: FSHB was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: FSHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FSHB were set to Hypogonadotropic hypogonadism 24 without anosmia 229070","entity_name":"FSHB","entity_type":"gene"},{"created":"2020-06-17T17:19:59.707290+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AARS2 was added\ngene: AARS2 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure 615889","entity_name":"AARS2","entity_type":"gene"},{"created":"2020-06-17T17:19:59.659186+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WT1 was added\ngene: WT1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: WT1 was set to ","entity_name":"WT1","entity_type":"gene"},{"created":"2020-06-17T17:19:59.611653+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR11 was added\ngene: WDR11 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: WDR11 was set to ","entity_name":"WDR11","entity_type":"gene"},{"created":"2020-06-17T17:19:59.562599+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TACR3 was added\ngene: TACR3 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TACR3 was set to ","entity_name":"TACR3","entity_type":"gene"},{"created":"2020-06-17T17:19:59.514751+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TAC3 was added\ngene: TAC3 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TAC3 was set to ","entity_name":"TAC3","entity_type":"gene"},{"created":"2020-06-17T17:19:59.466820+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: STAR was added\ngene: STAR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: STAR was set to ","entity_name":"STAR","entity_type":"gene"},{"created":"2020-06-17T17:19:59.418661+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SEMA3A was added\ngene: SEMA3A was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SEMA3A was set to ","entity_name":"SEMA3A","entity_type":"gene"},{"created":"2020-06-17T17:19:59.371447+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSMC3IP was added\ngene: PSMC3IP was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PSMC3IP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSMC3IP were set to Ovarian dysgenesis 3,614324","entity_name":"PSMC3IP","entity_type":"gene"},{"created":"2020-06-17T17:19:59.321722+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PROKR2 was added\ngene: PROKR2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PROKR2 was set to ","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-06-17T17:19:59.271758+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PROK2 was added\ngene: PROK2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PROK2 was set to ","entity_name":"PROK2","entity_type":"gene"},{"created":"2020-06-17T17:19:59.222322+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POR was added\ngene: POR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POR was set to ","entity_name":"POR","entity_type":"gene"},{"created":"2020-06-17T17:19:59.170470+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POLG was added\ngene: POLG was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Progressive external ophthalmoplegia, autosomal recessive 1 258450; Progressive external ophthalmoplegia, autosomal dominant 1 157640","entity_name":"POLG","entity_type":"gene"},{"created":"2020-06-17T17:19:59.122260+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NUP107 was added\ngene: NUP107 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NUP107","entity_type":"gene"},{"created":"2020-06-17T17:19:59.072255+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NR5A1 was added\ngene: NR5A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NR5A1 were set to Spermatogenic failure 8,613957; 46XY sex reversal 3,612965; Premature ovarian failure 7,612964","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-06-17T17:19:59.019112+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NOBOX was added\ngene: NOBOX was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NOBOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOBOX were set to Premature ovarian failure 5,611548","entity_name":"NOBOX","entity_type":"gene"},{"created":"2020-06-17T17:19:58.966189+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MCM9 was added\ngene: MCM9 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MCM9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCM9 were set to Ovarian dysgenesis 4, 616185","entity_name":"MCM9","entity_type":"gene"},{"created":"2020-06-17T17:19:58.917571+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MCM8 was added\ngene: MCM8 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: MCM8 was set to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCM8","entity_type":"gene"},{"created":"2020-06-17T17:19:58.868921+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LMNA was added\ngene: LMNA was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LMNA","entity_type":"gene"},{"created":"2020-06-17T17:19:58.820081+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LHCGR was added\ngene: LHCGR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LHCGR was set to ","entity_name":"LHCGR","entity_type":"gene"},{"created":"2020-06-17T17:19:58.771704+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LHB was added\ngene: LHB was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LHB was set to ","entity_name":"LHB","entity_type":"gene"},{"created":"2020-06-17T17:19:58.723709+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LARS2 was added\ngene: LARS2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARS2 were set to Perrault syndrome 4 615300","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-06-17T17:19:58.675727+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KISS1R was added\ngene: KISS1R was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: KISS1R was set to ","entity_name":"KISS1R","entity_type":"gene"},{"created":"2020-06-17T17:19:58.628467+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: KISS1 was added\ngene: KISS1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: KISS1 was set to ","entity_name":"KISS1","entity_type":"gene"},{"created":"2020-06-17T17:19:58.580176+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HSD17B4 was added\ngene: HSD17B4 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B4 were set to Perrault syndrome 1 233400","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2020-06-17T17:19:58.531329+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GNAS was added\ngene: GNAS was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GNAS was set to ","entity_name":"GNAS","entity_type":"gene"},{"created":"2020-06-17T17:19:58.484294+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GDF9 was added\ngene: GDF9 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GDF9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GDF9","entity_type":"gene"},{"created":"2020-06-17T17:19:58.432932+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GALT was added\ngene: GALT was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALT were set to Galactosemia, 230400","entity_name":"GALT","entity_type":"gene"},{"created":"2020-06-17T17:19:58.386456+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FSHR was added\ngene: FSHR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FSHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FSHR were set to Ovarian dysgenesis 1 233300; Ovarian response to FSH stimulation 276400","entity_name":"FSHR","entity_type":"gene"},{"created":"2020-06-17T17:19:58.339878+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FOXL2 was added\ngene: FOXL2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXL2 were set to Blepharophimosis,epicanthus inversus and ptosis,type 1 and 2,110100; Premature ovarian failure 3,608996","entity_name":"FOXL2","entity_type":"gene"},{"created":"2020-06-17T17:19:58.288572+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FMR1 was added\ngene: FMR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FMR1 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: FMR1 were set to Fragile X tremor ataxia syndrome, 300623; Fragile X syndrome, 300624; Premature ovarian failure 1, 311360","entity_name":"FMR1","entity_type":"gene"},{"created":"2020-06-17T17:19:58.242223+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FIGLA was added\ngene: FIGLA was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FIGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FIGLA were set to Premature ovarian failure,612310","entity_name":"FIGLA","entity_type":"gene"},{"created":"2020-06-17T17:19:58.196407+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FGFR1 was added\ngene: FGFR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FGFR1 was set to ","entity_name":"FGFR1","entity_type":"gene"},{"created":"2020-06-17T17:19:58.148024+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ESR1 was added\ngene: ESR1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ESR1 was set to ","entity_name":"ESR1","entity_type":"gene"},{"created":"2020-06-17T17:19:58.102628+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EIF2B5 was added\ngene: EIF2B5 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B5 were set to Ovarioleukodystrophy 603896","entity_name":"EIF2B5","entity_type":"gene"},{"created":"2020-06-17T17:19:58.055733+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EIF2B4 was added\ngene: EIF2B4 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B4 were set to Ovarioleukodystrophy 603896","entity_name":"EIF2B4","entity_type":"gene"},{"created":"2020-06-17T17:19:58.005538+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EIF2B2 was added\ngene: EIF2B2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B2 were set to Ovarioleukodystrophy 603896","entity_name":"EIF2B2","entity_type":"gene"},{"created":"2020-06-17T17:19:57.955557+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CYP19A1 was added\ngene: CYP19A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CYP19A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP19A1 were set to Aromatase deficiency 613546","entity_name":"CYP19A1","entity_type":"gene"},{"created":"2020-06-17T17:19:57.910177+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CYP17A1 was added\ngene: CYP17A1 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase, 17,20-lyase deficiency        202110","entity_name":"CYP17A1","entity_type":"gene"},{"created":"2020-06-17T17:19:57.864721+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CLPP was added\ngene: CLPP was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLPP were set to Perrault syndrome 3 614129","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-06-17T17:19:57.819607+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TWNK was added\ngene: TWNK was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TWNK were set to Perrault syndrome 5, 616138","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-06-17T17:19:57.773572+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BMP15 was added\ngene: BMP15 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: BMP15 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: BMP15 were set to Ovarian dysgenesis 2,300510; Premature ovarian failure 4300510","entity_name":"BMP15","entity_type":"gene"},{"created":"2020-06-17T17:19:57.728398+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AMHR2 was added\ngene: AMHR2 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AMHR2 was set to ","entity_name":"AMHR2","entity_type":"gene"},{"created":"2020-06-17T17:19:57.683469+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AMH was added\ngene: AMH was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AMH was set to ","entity_name":"AMH","entity_type":"gene"},{"created":"2020-06-17T17:19:57.634700+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AIRE was added\ngene: AIRE was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AIRE was set to ","entity_name":"AIRE","entity_type":"gene"},{"created":"2020-06-17T17:19:57.607172+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Amenorrhoea","entity_name":null,"entity_type":null},{"created":"2020-06-17T16:51:49.740198+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.8","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25103075, 27365701; Phenotypes: Glycogen storage disease II (MIM#232300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAA","entity_type":"gene"},{"created":"2020-06-17T16:49:42.139766+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHST14 as ready","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-06-17T16:49:42.130150+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chst14 has been classified as Green List (High Evidence).","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-06-17T16:49:39.919677+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHST14 were changed from  to Ehlers-Danlos syndrome, musculocontractural type 1 (MIM#601776)","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-06-17T16:49:09.947745+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHST14 were set to ","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-06-17T16:46:36.457265+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-06-17T16:45:15.219627+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAVIN1 as ready","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2020-06-17T16:45:15.202231+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cavin1 has been classified as Green List (High Evidence).","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2020-06-17T16:45:10.732380+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAVIN1 as Green List (high evidence)","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2020-06-17T16:45:10.720292+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cavin1 has been classified as Green List (High Evidence).","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2020-06-17T16:44:41.387400+10:00","panel_name":"Muscular dystrophy","panel_id":141,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAVIN1 was added\ngene: CAVIN1 was added to Muscular dystrophy. Sources: Expert list\nMode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 (MIM#613327)\nReview for gene: CAVIN1 was set to GREEN\nAdded comment: Gene also known as PTRF. Multiple families reported with onset of disease in childhood, muscular dystrophy is a feature. \nSources: Expert list","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2020-06-17T16:41:31.642642+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMPD1 as ready","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:41:31.632473+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ampd1 has been classified as Red List (Low Evidence).","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:41:26.798605+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AMPD1 as Red List (low evidence)","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:41:26.789413+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ampd1 has been classified as Red List (Low Evidence).","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:41:19.883163+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: AMPD1.","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:41:04.754078+10:00","panel_name":"Rhabdomyolysis RMH","panel_id":3084,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMPD1: Rating: RED; Mode of pathogenicity: None; Publications: 21343608, 27296017; Phenotypes: Myopathy due to myoadenylate deaminase deficiency (MIM#615511); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:40:18.905280+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3094","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMPD1 as ready","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:40:18.896398+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3094","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ampd1 has been classified as Red List (Low Evidence).","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:40:11.751822+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3094","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMPD1 were changed from  to Myopathy due to myoadenylate deaminase deficiency (MIM#615511)","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:39:52.903559+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3093","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMPD1 were set to ","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:39:33.755591+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3092","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:39:16.230049+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3091","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AMPD1 as Red List (low evidence)","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:39:16.217627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3091","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ampd1 has been classified as Red List (Low Evidence).","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:38:57.554598+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3090","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: AMPD1.","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:38:28.604465+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3090","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AMPD1: Rating: RED; Mode of pathogenicity: None; Publications: 21343608, 27296017; Phenotypes: Myopathy due to myoadenylate deaminase deficiency (MIM#615511); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AMPD1","entity_type":"gene"},{"created":"2020-06-17T16:03:02.428024+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.4","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23243261; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 2 (MIM#253601); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYSF","entity_type":"gene"},{"created":"2020-06-17T16:02:05.181655+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GPT2 as ready","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-06-17T16:02:05.170050+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gpt2 has been classified as Green List (High Evidence).","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-06-17T16:02:01.982788+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GPT2 as Green List (high evidence)","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-06-17T16:02:01.969037+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gpt2 has been classified as Green List (High Evidence).","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-06-17T16:01:53.149359+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GPT2 was added\ngene: GPT2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPT2 were set to 29882329; 31471722; 27601654\nPhenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49 MIM#616281\nReview for gene: GPT2 was set to GREEN\nAdded comment: Paediatric onset spastic paraglegia is a prominent feature of the condition, >3 unrelated families reported. \nSources: Expert list","entity_name":"GPT2","entity_type":"gene"},{"created":"2020-06-17T13:26:53.881814+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.4","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: DNAJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26847086, 26338452, 24170373; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 1 (MIM#603511); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"DNAJB6","entity_type":"gene"},{"created":"2020-06-17T11:35:58.768491+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.62","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1 (MIM#601776); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-06-17T11:26:04.052519+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.219","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants. \nSources: Expert list; to: Paediatric ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants. \r\nSources: Expert list","entity_name":"UBTF","entity_type":"gene"},{"created":"2020-06-17T11:25:36.644271+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.219","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: UBTF as ready","entity_name":"UBTF","entity_type":"gene"},{"created":"2020-06-17T11:25:36.631486+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.219","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubtf has been classified as Green List (High Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2020-06-17T11:25:33.000839+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.219","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: UBTF as Green List (high evidence)","entity_name":"UBTF","entity_type":"gene"},{"created":"2020-06-17T11:25:32.990471+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.219","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubtf has been classified as Green List (High Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2020-06-17T11:25:23.997202+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.218","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UBTF was added\ngene: UBTF was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBTF were set to 29300972\nPhenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672\nReview for gene: UBTF was set to GREEN\nAdded comment: Ataxia reported as a feature of the condition in 4 unrelated cases with de novo missense variants. \nSources: Expert list","entity_name":"UBTF","entity_type":"gene"},{"created":"2020-06-17T11:08:44.306202+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3090","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXW11 were changed from Intellectual disability; developmental eye anomalies; digital anomalies to Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Intellectual disability; developmental eye anomalies; digital anomalies","entity_name":"FBXW11","entity_type":"gene"},{"created":"2020-06-17T11:08:21.421771+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3089","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBXW11","entity_type":"gene"}]}