{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=657","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=655","results":[{"created":"2022-12-23T17:22:52.016097+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1656","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: timm8a has been classified as Red List (Low Evidence).","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2022-12-23T17:21:31.262985+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1655","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TK2 were set to ","entity_name":"TK2","entity_type":"gene"},{"created":"2022-12-23T17:18:11.788626+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1654","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TK2 as ready","entity_name":"TK2","entity_type":"gene"},{"created":"2022-12-23T17:18:11.771740+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1654","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tk2 has been classified as Green List (High Evidence).","entity_name":"TK2","entity_type":"gene"},{"created":"2022-12-23T17:18:08.423533+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1654","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560","entity_name":"TK2","entity_type":"gene"},{"created":"2022-12-23T17:17:56.165373+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1653","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: TK2.\nTag metabolic tag was added to gene: TK2.","entity_name":"TK2","entity_type":"gene"},{"created":"2022-12-23T17:07:14.822335+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1653","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMC1 as ready","entity_name":"TMC1","entity_type":"gene"},{"created":"2022-12-23T17:07:14.808927+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1653","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmc1 has been classified as Green List (High Evidence).","entity_name":"TMC1","entity_type":"gene"},{"created":"2022-12-23T17:07:10.015143+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1653","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: TMC1.","entity_name":"TMC1","entity_type":"gene"},{"created":"2022-12-23T17:07:00.613385+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1653","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMC1 were changed from Deafness to Deafness, autosomal recessive 7 MIM#600974","entity_name":"TMC1","entity_type":"gene"},{"created":"2022-12-23T17:06:50.555787+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1652","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMC1 were set to ","entity_name":"TMC1","entity_type":"gene"},{"created":"2022-12-23T17:06:14.107664+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1651","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM43 as ready","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-12-23T17:06:14.094786+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1651","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem43 has been classified as Red List (Low Evidence).","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-12-23T17:05:57.492101+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1651","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM43 were changed from Arrhythmogenic right ventricular dysplasia 5 to Arrhythmogenic right ventricular dysplasia 5 MIM#604400","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-12-23T17:05:46.084768+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1650","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM43 were set to ","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-12-23T17:05:31.350280+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1649","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM43 as Red List (low evidence)","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-12-23T17:05:31.338378+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1649","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem43 has been classified as Red List (Low Evidence).","entity_name":"TMEM43","entity_type":"gene"},{"created":"2022-12-23T17:04:52.130901+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1648","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM67 as ready","entity_name":"TMEM67","entity_type":"gene"},{"created":"2022-12-23T17:04:52.117444+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1648","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem67 has been classified as Red List (Low Evidence).","entity_name":"TMEM67","entity_type":"gene"},{"created":"2022-12-23T17:04:48.625366+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1648","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM67 were changed from Joubert syndrome; Meckel syndrome to COACH syndrome MIM#216360; Joubert syndrome MIM#10688; Meckel syndrome MIM#607361; Nephronophthisis MIM#613550","entity_name":"TMEM67","entity_type":"gene"},{"created":"2022-12-23T17:04:35.403975+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1647","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM67 were set to ","entity_name":"TMEM67","entity_type":"gene"},{"created":"2022-12-23T17:04:18.127705+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1646","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM67 as Red List (low evidence)","entity_name":"TMEM67","entity_type":"gene"},{"created":"2022-12-23T17:04:18.114509+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1646","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem67 has been classified as Red List (Low Evidence).","entity_name":"TMEM67","entity_type":"gene"},{"created":"2022-12-23T17:02:53.868313+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1645","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMIE as ready","entity_name":"TMIE","entity_type":"gene"},{"created":"2022-12-23T17:02:53.856587+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1645","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmie has been classified as Green List (High Evidence).","entity_name":"TMIE","entity_type":"gene"},{"created":"2022-12-23T17:02:09.689045+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1645","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29602790, PMID: 31125140, PMID: 23385875; Phenotypes: myopathy, ophthalmoparesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TK2","entity_type":"gene"},{"created":"2022-12-23T17:01:37.534704+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1645","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMIE were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 6 MIM#600971","entity_name":"TMIE","entity_type":"gene"},{"created":"2022-12-23T17:01:24.386901+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1644","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMIE were set to ","entity_name":"TMIE","entity_type":"gene"},{"created":"2022-12-23T17:00:58.688444+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: TMIE.","entity_name":"TMIE","entity_type":"gene"},{"created":"2022-12-23T17:00:24.600863+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: TMPRSS3.","entity_name":"TMPRSS3","entity_type":"gene"},{"created":"2022-12-23T16:59:44.892863+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: TRIOBP.","entity_name":"TRIOBP","entity_type":"gene"},{"created":"2022-12-23T16:59:17.995159+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Tag liver tag was added to gene: TRMU.","entity_name":"TRMU","entity_type":"gene"},{"created":"2022-12-23T16:58:52.551356+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Tag endocrine tag was added to gene: TSHB.","entity_name":"TSHB","entity_type":"gene"},{"created":"2022-12-23T16:58:27.086468+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Tag neurological tag was added to gene: TTPA.","entity_name":"TTPA","entity_type":"gene"},{"created":"2022-12-23T16:43:47.858048+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"John Christodoulou","item_type":"entity","text":"changed review comment from: Congenital nongoitrous hypothyroidism 6\r\n\r\nnormal TSH, so will be missed by NBS\r\n\r\ntreatment with thyroxine; to: Congenital nongoitrous hypothyroidism 6\r\n\r\nnormal TSH, so will be missed by NBS\r\n\r\ntreatment with thyroxine; others report that patients are resistant to thyroxine therapy (PMID: 28527577)","entity_name":"THRA","entity_type":"gene"},{"created":"2022-12-23T16:42:33.997859+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"John Christodoulou","item_type":"entity","text":"edited their review of gene: THRA: Changed rating: AMBER","entity_name":"THRA","entity_type":"gene"},{"created":"2022-12-23T16:32:40.823102+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083, PMID: 32349464; Phenotypes: goitre, macrocephaly, delayed suture closure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"THRA","entity_type":"gene"},{"created":"2022-12-23T16:27:08.378305+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301610; Phenotypes: dystonia, Parkinsonism, dev delay, hypotonia, oculogyric crises; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TH","entity_type":"gene"},{"created":"2022-12-23T16:26:35.364019+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Tag haematological tag was added to gene: UBE2T.","entity_name":"UBE2T","entity_type":"gene"},{"created":"2022-12-23T16:26:14.688205+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Tag liver tag was added to gene: UGT1A1.","entity_name":"UGT1A1","entity_type":"gene"},{"created":"2022-12-23T16:25:36.298551+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Tag immunological tag was added to gene: UNC13D.","entity_name":"UNC13D","entity_type":"gene"},{"created":"2022-12-23T16:25:02.644550+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UROS as ready","entity_name":"UROS","entity_type":"gene"},{"created":"2022-12-23T16:25:02.628901+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uros has been classified as Green List (High Evidence).","entity_name":"UROS","entity_type":"gene"},{"created":"2022-12-23T16:24:59.270941+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1643","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic to Porphyria, congenital erythropoietic MIM#263700","entity_name":"UROS","entity_type":"gene"},{"created":"2022-12-23T16:24:46.987194+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1642","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UROS were set to ","entity_name":"UROS","entity_type":"gene"},{"created":"2022-12-23T16:24:34.516179+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1641","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: UROS.\nTag haematological tag was added to gene: UROS.","entity_name":"UROS","entity_type":"gene"},{"created":"2022-12-23T16:23:56.694426+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1641","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USH1C as ready","entity_name":"USH1C","entity_type":"gene"},{"created":"2022-12-23T16:23:56.682148+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1641","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ush1c has been classified as Green List (High Evidence).","entity_name":"USH1C","entity_type":"gene"},{"created":"2022-12-23T16:23:52.890931+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1641","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USH1C were changed from Usher syndrome 1 to Usher syndrome type 1 MIM#276904","entity_name":"USH1C","entity_type":"gene"},{"created":"2022-12-23T16:23:42.598859+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1640","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USH1C were set to ","entity_name":"USH1C","entity_type":"gene"},{"created":"2022-12-23T16:23:32.326688+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1639","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: USH1C.","entity_name":"USH1C","entity_type":"gene"},{"created":"2022-12-23T16:22:18.336475+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1639","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USH1G as ready","entity_name":"USH1G","entity_type":"gene"},{"created":"2022-12-23T16:22:18.321530+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1639","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ush1g has been classified as Green List (High Evidence).","entity_name":"USH1G","entity_type":"gene"},{"created":"2022-12-23T16:22:14.664913+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1639","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USH1G were changed from Usher syndrome 1 to Usher syndrome type 1 MIM#606943","entity_name":"USH1G","entity_type":"gene"},{"created":"2022-12-23T16:22:04.282891+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1638","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USH1G were set to ","entity_name":"USH1G","entity_type":"gene"},{"created":"2022-12-23T16:21:49.447470+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1637","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: USH1G.","entity_name":"USH1G","entity_type":"gene"},{"created":"2022-12-23T16:21:29.133701+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1637","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USH2A as ready","entity_name":"USH2A","entity_type":"gene"},{"created":"2022-12-23T16:21:29.122239+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1637","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ush2a has been classified as Green List (High Evidence).","entity_name":"USH2A","entity_type":"gene"},{"created":"2022-12-23T16:21:25.771629+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1637","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USH2A were changed from Usher syndrome 2 to Usher Syndrome Type II MIM#276901","entity_name":"USH2A","entity_type":"gene"},{"created":"2022-12-23T16:21:15.371318+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1636","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USH2A were set to ","entity_name":"USH2A","entity_type":"gene"},{"created":"2022-12-23T16:20:49.637185+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1635","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: USH2A.","entity_name":"USH2A","entity_type":"gene"},{"created":"2022-12-23T16:18:11.670740+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1635","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: TG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083; Phenotypes: goitre; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TG","entity_type":"gene"},{"created":"2022-12-23T16:17:36.139349+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1635","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VCAN as ready","entity_name":"VCAN","entity_type":"gene"},{"created":"2022-12-23T16:17:36.125816+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1635","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vcan has been classified as Red List (Low Evidence).","entity_name":"VCAN","entity_type":"gene"},{"created":"2022-12-23T16:17:11.717490+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1635","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VCAN were changed from Wagner syndrome to Wagner syndrome MIM#143200","entity_name":"VCAN","entity_type":"gene"},{"created":"2022-12-23T16:17:00.446910+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1634","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VCAN were set to ","entity_name":"VCAN","entity_type":"gene"},{"created":"2022-12-23T16:16:41.762366+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1633","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VCAN as Red List (low evidence)","entity_name":"VCAN","entity_type":"gene"},{"created":"2022-12-23T16:16:41.750916+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1633","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vcan has been classified as Red List (Low Evidence).","entity_name":"VCAN","entity_type":"gene"},{"created":"2022-12-23T16:16:29.546216+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VCAN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wagner syndrome MIM#143200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VCAN","entity_type":"gene"},{"created":"2022-12-23T16:15:01.858778+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag endocrine tag was added to gene: VDR.","entity_name":"VDR","entity_type":"gene"},{"created":"2022-12-23T16:14:37.118315+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cancer tag was added to gene: VHL.","entity_name":"VHL","entity_type":"gene"},{"created":"2022-12-23T16:14:17.729375+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag immunological tag was added to gene: VPS45.","entity_name":"VPS45","entity_type":"gene"},{"created":"2022-12-23T16:13:48.428743+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: WAS.\nTag haematological tag was added to gene: WAS.","entity_name":"WAS","entity_type":"gene"},{"created":"2022-12-23T16:13:20.635361+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deafness tag was added to gene: WHRN.","entity_name":"WHRN","entity_type":"gene"},{"created":"2022-12-23T16:12:54.900055+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag immunological tag was added to gene: XIAP.","entity_name":"XIAP","entity_type":"gene"},{"created":"2022-12-23T16:12:04.713890+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag immunological tag was added to gene: ZAP70.","entity_name":"ZAP70","entity_type":"gene"},{"created":"2022-12-23T16:09:14.527211+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32841161, PMID: 33685478; Phenotypes: failure to thrive, megaloblastic anaemia, recurrent infections, ID, vomiting, diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCN2","entity_type":"gene"},{"created":"2022-12-23T16:01:02.576876+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28189489, PMID: 32456656; Phenotypes: ID, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPR","entity_type":"gene"},{"created":"2022-12-23T15:39:38.452635+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31095747; Phenotypes: recurrent encephalopathy, basal ganglia necrosis, generalized dystonia, polyneuropathy, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2022-12-23T15:33:48.080972+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22649802; Phenotypes: dev delay, encephalopathy, seizures, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A15","entity_type":"gene"},{"created":"2022-12-23T15:27:50.569652+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"John Christodoulou","item_type":"entity","text":"reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301360, PMID: 31255436; Phenotypes: neonatal cholestatic jaundice, neuropsychiatric abnormalities, ID, failure to thrive, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A13","entity_type":"gene"},{"created":"2022-12-23T14:21:14.354715+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag endocrine tag was added to gene: AVPR2.","entity_name":"AVPR2","entity_type":"gene"},{"created":"2022-12-23T14:20:55.238995+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag endocrine tag was added to gene: AVP.","entity_name":"AVP","entity_type":"gene"},{"created":"2022-12-23T14:20:36.207459+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ATP7B.\nTag metabolic tag was added to gene: ATP7B.","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-12-23T14:20:11.968994+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: ATP7A.","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-12-23T14:19:39.180559+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag renal tag was added to gene: ATP6V1B1.","entity_name":"ATP6V1B1","entity_type":"gene"},{"created":"2022-12-23T14:19:15.858768+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag renal tag was added to gene: ATP6V0A4.","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2022-12-23T14:18:54.510591+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: ASS1.","entity_name":"ASS1","entity_type":"gene"},{"created":"2022-12-23T14:18:10.427511+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: ASL.","entity_name":"ASL","entity_type":"gene"},{"created":"2022-12-23T14:17:35.327197+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: ARSB.","entity_name":"ARSB","entity_type":"gene"},{"created":"2022-12-23T14:17:09.802893+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: ARSA.","entity_name":"ARSA","entity_type":"gene"},{"created":"2022-12-23T14:16:44.052613+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag immunological tag was added to gene: ARPC1B.","entity_name":"ARPC1B","entity_type":"gene"},{"created":"2022-12-23T14:16:21.268283+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag metabolic tag was added to gene: ARG1.","entity_name":"ARG1","entity_type":"gene"},{"created":"2022-12-23T14:15:59.677499+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag endocrine tag was added to gene: AQP2.","entity_name":"AQP2","entity_type":"gene"},{"created":"2022-12-23T14:15:33.837760+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag haematological tag was added to gene: AP3B1.","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-12-23T14:14:22.689732+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ACVRL1.\nTag vascular tag was added to gene: ACVRL1.","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-12-23T14:13:07.511818+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PROS1 as ready","entity_name":"PROS1","entity_type":"gene"},{"created":"2022-12-23T14:13:07.475104+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pros1 has been classified as Red List (Low Evidence).","entity_name":"PROS1","entity_type":"gene"},{"created":"2022-12-23T14:13:03.447055+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PROS1 were changed from Protein S deficiency to Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336; Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514","entity_name":"PROS1","entity_type":"gene"},{"created":"2022-12-23T14:12:50.724902+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1631","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PROS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROS1","entity_type":"gene"}]}