{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1813","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1811","results":[{"created":"2020-05-03T13:44:01.664609+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2700","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5E as ready","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-05-03T13:44:01.655047+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2700","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5e has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-05-03T13:43:52.531454+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2700","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP5E were changed from  to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-05-03T13:43:31.082870+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2699","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP5E were set to ","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-05-03T13:43:15.614150+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2698","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-05-03T13:42:59.112696+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2697","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP5E as Amber List (moderate evidence)","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-05-03T13:42:59.100727+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2697","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5e has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-05-03T13:42:37.641482+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2696","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ATP5E.","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-05-03T13:42:24.573172+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2696","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: None; Publications: 20566710, 27626380, 20026007; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-05-03T13:41:35.328082+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.445","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ATP5E.","entity_name":"ATP5E","entity_type":"gene"},{"created":"2020-05-03T13:40:35.570603+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2696","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5D as ready","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:40:35.551888+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2696","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5d has been classified as Green List (High Evidence).","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:40:26.898877+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2696","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP5D were changed from  to Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:40:06.088789+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2695","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP5D were set to ","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:39:46.521659+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2694","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:39:28.831861+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2693","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ATP5D.","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:39:15.554570+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2693","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:38:30.462331+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.445","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5D as ready","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:38:30.449632+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.445","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5d has been classified as Green List (High Evidence).","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:38:24.375517+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.445","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP5D were changed from  to Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:37:52.504453+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.444","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP5D were set to ","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:37:32.976081+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.443","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP5D was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:37:12.798476+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.443","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:36:44.772178+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ATP5D.","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:36:34.913673+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5D","entity_type":"gene"},{"created":"2020-05-03T13:34:19.995644+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5A1 as ready","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:34:19.989879+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name: ATP5F1A","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:34:19.962037+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5a1 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:34:11.172620+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ATP5A1.","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:33:47.241129+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2693","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5A1 as ready","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:33:47.234690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2693","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name: ATP5F1A","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:33:47.203188+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2693","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5a1 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:33:35.366894+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.690","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5A1 as ready","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:33:35.362885+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.690","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name: ATP5F1A","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:33:35.342172+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.690","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5a1 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:33:05.432653+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.690","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ATP5A1.","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:32:49.844454+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2693","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP5A1 were changed from  to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:32:11.840036+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2692","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ATP5A1.","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:32:01.811370+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2692","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP5A1 were set to ","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:31:45.859652+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2691","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:31:26.982102+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2690","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP5A1 as Amber List (moderate evidence)","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:31:26.971407+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2690","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5a1 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T13:31:05.826588+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2689","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23599390; Phenotypes: Combined oxidative phosphorylation deficiency 22 616045, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2020-05-03T12:57:47.492042+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COLEC10 as ready","entity_name":"COLEC10","entity_type":"gene"},{"created":"2020-05-03T12:57:47.483138+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: colec10 has been classified as Green List (High Evidence).","entity_name":"COLEC10","entity_type":"gene"},{"created":"2020-05-03T12:57:43.826400+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COLEC10 as Green List (high evidence)","entity_name":"COLEC10","entity_type":"gene"},{"created":"2020-05-03T12:57:43.815406+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: colec10 has been classified as Green List (High Evidence).","entity_name":"COLEC10","entity_type":"gene"},{"created":"2020-05-03T12:57:16.308886+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COLEC10 was added\ngene: COLEC10 was added to Blepharophimosis. Sources: Expert Review\nMode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLEC10 were set to 3MC syndrome 3, MIM#\t248340\nReview for gene: COLEC10 was set to GREEN\nAdded comment: Sources: Expert Review","entity_name":"COLEC10","entity_type":"gene"},{"created":"2020-05-03T12:54:35.992153+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COLEC11 as ready","entity_name":"COLEC11","entity_type":"gene"},{"created":"2020-05-03T12:54:35.982965+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: colec11 has been classified as Green List (High Evidence).","entity_name":"COLEC11","entity_type":"gene"},{"created":"2020-05-03T12:54:33.049168+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COLEC11 as Green List (high evidence)","entity_name":"COLEC11","entity_type":"gene"},{"created":"2020-05-03T12:54:33.039862+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: colec11 has been classified as Green List (High Evidence).","entity_name":"COLEC11","entity_type":"gene"},{"created":"2020-05-03T12:54:04.452418+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COLEC11 was added\ngene: COLEC11 was added to Blepharophimosis. Sources: Expert Review\nMode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLEC11 were set to 3MC syndrome 2, MIM#\t265050\nReview for gene: COLEC11 was set to GREEN\nAdded comment: Sources: Expert Review","entity_name":"COLEC11","entity_type":"gene"},{"created":"2020-05-03T12:52:22.005391+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC1 as ready","entity_name":"ERCC1","entity_type":"gene"},{"created":"2020-05-03T12:52:21.996225+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc1 has been classified as Green List (High Evidence).","entity_name":"ERCC1","entity_type":"gene"},{"created":"2020-05-03T12:52:18.379117+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC1 as Green List (high evidence)","entity_name":"ERCC1","entity_type":"gene"},{"created":"2020-05-03T12:52:18.367363+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc1 has been classified as Green List (High Evidence).","entity_name":"ERCC1","entity_type":"gene"},{"created":"2020-05-03T12:51:49.252260+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC1 was added\ngene: ERCC1 was added to Blepharophimosis. Sources: Expert Review\nMode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC1 were set to Cerebrooculofacioskeletal syndrome 4, MIM#\t610758\nReview for gene: ERCC1 was set to GREEN\nAdded comment: Sources: Expert Review","entity_name":"ERCC1","entity_type":"gene"},{"created":"2020-05-03T12:50:40.084532+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC5 as ready","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-05-03T12:50:40.071597+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc5 has been classified as Green List (High Evidence).","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-05-03T12:50:35.454172+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC5 as Green List (high evidence)","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-05-03T12:50:35.445310+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc5 has been classified as Green List (High Evidence).","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-05-03T12:50:06.369507+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC5 was added\ngene: ERCC5 was added to Blepharophimosis. Sources: Expert Review\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3,MIM#\t616570\nReview for gene: ERCC5 was set to GREEN\nAdded comment: Sources: Expert Review","entity_name":"ERCC5","entity_type":"gene"},{"created":"2020-05-03T12:48:44.143242+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC2 as ready","entity_name":"ERCC2","entity_type":"gene"},{"created":"2020-05-03T12:48:44.134379+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc2 has been classified as Red List (Low Evidence).","entity_name":"ERCC2","entity_type":"gene"},{"created":"2020-05-03T12:42:05.833717+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC2 was added\ngene: ERCC2 was added to Blepharophimosis. Sources: Expert list\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC2 were set to 11443545\nPhenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, MIM#\t610756\nReview for gene: ERCC2 was set to RED\nAdded comment: ERCC2 is associated with trichothiodystrophy and xeroderma pigmentosum. Only one family reported with COFS phenotype in 2001. \nSources: Expert list","entity_name":"ERCC2","entity_type":"gene"},{"created":"2020-05-03T12:34:58.037772+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC6 as ready","entity_name":"ERCC6","entity_type":"gene"},{"created":"2020-05-03T12:34:58.028146+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc6 has been classified as Green List (High Evidence).","entity_name":"ERCC6","entity_type":"gene"},{"created":"2020-05-03T12:34:53.514491+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC6 as Green List (high evidence)","entity_name":"ERCC6","entity_type":"gene"},{"created":"2020-05-03T12:34:53.502091+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc6 has been classified as Green List (High Evidence).","entity_name":"ERCC6","entity_type":"gene"},{"created":"2020-05-03T12:34:25.647640+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC6 was added\ngene: ERCC6 was added to Blepharophimosis. Sources: Expert Review\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6 were set to Cerebrooculofacioskeletal syndrome 1, MIM#\t214150\nReview for gene: ERCC6 was set to GREEN\nAdded comment: Sources: Expert Review","entity_name":"ERCC6","entity_type":"gene"},{"created":"2020-05-03T12:28:55.285109+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2689","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLDC as ready","entity_name":"GLDC","entity_type":"gene"},{"created":"2020-05-03T12:28:55.276450+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2689","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gldc has been classified as Green List (High Evidence).","entity_name":"GLDC","entity_type":"gene"},{"created":"2020-05-03T12:28:47.030868+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2689","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLDC were changed from  to Glycine encephalopathy (MIM#605899)","entity_name":"GLDC","entity_type":"gene"},{"created":"2020-05-03T12:27:46.452393+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2688","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLDC were set to ","entity_name":"GLDC","entity_type":"gene"},{"created":"2020-05-03T12:27:25.328913+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2687","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLDC","entity_type":"gene"},{"created":"2020-05-02T22:49:36.157577+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2686","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 27362913; Phenotypes: Glycine encephalopathy (MIM#605899); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLDC","entity_type":"gene"},{"created":"2020-05-01T20:22:24.061544+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPM1F: Changed phenotypes: sclerosing cholangitis, short stature, hypothyroidism, abnormal tongue pigmentation","entity_name":"PPM1F","entity_type":"gene"},{"created":"2020-05-01T19:43:00.505070+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A4 as ready","entity_name":"COL4A4","entity_type":"gene"},{"created":"2020-05-01T19:43:00.495244+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a4 has been classified as Green List (High Evidence).","entity_name":"COL4A4","entity_type":"gene"},{"created":"2020-05-01T19:42:55.951760+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL4A4 were changed from  to Alport syndrome 2, autosomal recessive, 203780; Thin basement membrane nephropathy (TBMN), AD; Focal segmental glomerulosclerosis (FSGS), AD","entity_name":"COL4A4","entity_type":"gene"},{"created":"2020-05-01T19:42:21.028670+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL4A4 were set to ","entity_name":"COL4A4","entity_type":"gene"},{"created":"2020-05-01T19:41:48.740836+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL4A4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"COL4A4","entity_type":"gene"},{"created":"2020-05-01T18:37:12.140900+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2612","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARID1B as ready","entity_name":"ARID1B","entity_type":"gene"},{"created":"2020-05-01T18:37:12.131625+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2612","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arid1b has been classified as Green List (High Evidence).","entity_name":"ARID1B","entity_type":"gene"},{"created":"2020-05-01T18:37:06.331704+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2612","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARID1B were changed from  to Coffin-Siris syndrome 1, MIM 135900","entity_name":"ARID1B","entity_type":"gene"},{"created":"2020-05-01T18:36:37.567277+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2611","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARID1B were set to ","entity_name":"ARID1B","entity_type":"gene"},{"created":"2020-05-01T18:35:58.790280+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2610","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARID1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARID1B","entity_type":"gene"},{"created":"2020-05-01T17:51:32.364350+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2609","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25674384, 30349098, 26506440; Phenotypes: Coffin-Siris syndrome 1, MIM 135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ARID1B","entity_type":"gene"},{"created":"2020-05-01T13:40:50.004169+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2686","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 31781092; Phenotypes: Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD4","entity_type":"gene"},{"created":"2020-05-01T13:40:16.681062+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD4 as ready","entity_name":"CD4","entity_type":"gene"},{"created":"2020-05-01T13:40:16.671446+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd4 has been classified as Amber List (Moderate Evidence).","entity_name":"CD4","entity_type":"gene"},{"created":"2020-05-01T13:40:11.274158+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD4 as Amber List (moderate evidence)","entity_name":"CD4","entity_type":"gene"},{"created":"2020-05-01T13:40:11.262727+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd4 has been classified as Amber List (Moderate Evidence).","entity_name":"CD4","entity_type":"gene"},{"created":"2020-05-01T13:39:39.414266+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD4 was added\ngene: CD4 was added to Susceptibility to Viral Infections. Sources: Literature\nMode of inheritance for gene: CD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD4 were set to 31781092\nPhenotypes for gene: CD4 were set to Absence of CD4+ T cells; exuberant, relapsing, treatment-refractory warts\nReview for gene: CD4 was set to AMBER\nAdded comment: Single individual reported, functional data, emerging gene. \nSources: Literature","entity_name":"CD4","entity_type":"gene"},{"created":"2020-05-01T10:34:01.573984+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"0.32","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 17942953, 24052634, 12631110, 26346198, 30450445; Phenotypes: Alport syndrome 2, autosomal recessive, 203780, Thin basement membrane nephropathy (TBMN), AD, Focal segmental glomerulosclerosis (FSGS), AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"COL4A4","entity_type":"gene"},{"created":"2020-05-01T10:22:43.487038+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2686","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNK2","entity_type":"gene"},{"created":"2020-05-01T10:22:38.361903+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.690","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TNK2 as Amber List (moderate evidence)","entity_name":"TNK2","entity_type":"gene"},{"created":"2020-05-01T10:22:38.353546+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.690","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnk2 has been classified as Amber List (Moderate Evidence).","entity_name":"TNK2","entity_type":"gene"},{"created":"2020-05-01T10:21:43.615201+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.689","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families reported.; to: Three unrelated families reported, however report in Hitomi (2013) is questionable due to this variant being present in 6 homozygotes in gnomAD,","entity_name":"TNK2","entity_type":"gene"}]}