{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=748","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=746","results":[{"created":"2022-09-22T10:01:41.483996+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.338","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, hematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic.; to: APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, hematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic.\r\n\r\nTreatable: allopurinol or febuxostat, low purine diet.","entity_name":"APRT","entity_type":"gene"},{"created":"2022-09-22T10:00:38.848047+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APRT as ready","entity_name":"APRT","entity_type":"gene"},{"created":"2022-09-22T10:00:38.838952+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aprt has been classified as Red List (Low Evidence).","entity_name":"APRT","entity_type":"gene"},{"created":"2022-09-22T10:00:31.398694+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APRT as Red List (low evidence)","entity_name":"APRT","entity_type":"gene"},{"created":"2022-09-22T10:00:31.389670+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aprt has been classified as Red List (Low Evidence).","entity_name":"APRT","entity_type":"gene"},{"created":"2022-09-22T10:00:21.619936+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: APRT.\nTag treatable tag was added to gene: APRT.","entity_name":"APRT","entity_type":"gene"},{"created":"2022-09-22T10:00:07.130711+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: APRT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenine phosphoribosyltransferase deficiency MIM#614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"APRT","entity_type":"gene"},{"created":"2022-09-22T09:58:25.393314+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.338","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: APRT.","entity_name":"APRT","entity_type":"gene"},{"created":"2022-09-22T09:58:12.358382+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.338","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: APRT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenine phosphoribosyltransferase deficiency MIM#614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"APRT","entity_type":"gene"},{"created":"2022-09-22T09:55:22.476885+10:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: APOB.","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:55:08.280663+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: APOB.","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:54:42.240815+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: APOB.","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:54:33.510633+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: APOB: Well established gene-disease association.\r\n\r\nConsidered 'strongly actionable' by ClinGen, however, benefit in children is uncertain.\r\n\r\nElevated LDL-C levels can be detected from infancy and strongly predispose patients with FH to progressive atherosclerosis throughout childhood and premature CVD in adulthood. Although complications of atherosclerosis occur most commonly in individuals aged >50, the pathophysiological processes begin in childhood and are affected by additional risk factors: hypertension, diabetes, smoking, obesity, poor diet, and physical inactivity. By 12 years of age, children with FH have significant thickening of the carotid intima-media, and by 18 years have coronary stenosis.\r\n\r\nBased on studies of individuals selected based on clinical criteria in the pre-statin era, untreated males are at 50% risk for a fatal or non-fatal coronary event by age 50 years, and women are at 30% risk by 60 years.\r\n\r\nTreatable disorder: Statins have changed the prognosis of FH such that the rates of cardiovascular (CV) events are equal to the general population after 10 years of treatment. Other treatments, as well as lifestyle modification are also available and alter the natural history.\r\n\r\nStatin therapy is recommended to be initiated as early as 8-12 years of age.\r\n\r\nRelatively common, 1 in 200/500.","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:54:03.136455+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APOB as ready","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:54:03.127775+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apob has been classified as Red List (Low Evidence).","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:53:49.147597+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2, MIM# 144010 to Hypercholesterolaemia, familial, 2, MIM# 144010","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:53:38.108413+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: APOB were changed from Apolipoprotein B deficiency to Hypercholesterolemia, familial, 2, MIM# 144010","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:53:23.575126+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: APOB was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:53:13.813918+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APOB as Red List (low evidence)","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:53:13.805214+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apob has been classified as Red List (Low Evidence).","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:53:04.097703+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: APOB.\nTag treatable tag was added to gene: APOB.","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-22T09:52:50.331433+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: APOB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 2, MIM# 144010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"APOB","entity_type":"gene"},{"created":"2022-09-21T23:42:38.284002+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.232","user_name":"Shekeeb Mohammad","item_type":"entity","text":"reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36110148; Phenotypes: dystonia, parkinsonism, intellectual disability, optic hypoplasia, cognitive decline, dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2022-09-21T23:41:16.586029+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.215","user_name":"Shekeeb Mohammad","item_type":"entity","text":"reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36110148; Phenotypes: dystonia, parkinsonism, intellectual disability, optic hypoplasia, dementia, cognitive decline; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2022-09-21T20:53:09.379250+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARID1B as ready","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-09-21T20:53:09.369880+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arid1b has been classified as Red List (Low Evidence).","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-09-21T20:53:00.717584+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARID1B were changed from Coffin-Siris syndrome to Coffin-Siris syndrome 1 MIM#135900","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-09-21T20:52:45.788305+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARID1B as Red List (low evidence)","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-09-21T20:52:45.772530+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arid1b has been classified as Red List (Low Evidence).","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-09-21T20:52:34.366186+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARID1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1 MIM#135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARID1B","entity_type":"gene"},{"created":"2022-09-21T20:51:12.487155+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: APC.","entity_name":"APC","entity_type":"gene"},{"created":"2022-09-21T20:50:15.724549+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APC as ready","entity_name":"APC","entity_type":"gene"},{"created":"2022-09-21T20:50:15.715159+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apc has been classified as Red List (Low Evidence).","entity_name":"APC","entity_type":"gene"},{"created":"2022-09-21T20:50:06.518281+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: APC were changed from Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated to Adenomatous polyposis coli, MIM# 175100","entity_name":"APC","entity_type":"gene"},{"created":"2022-09-21T20:49:54.278943+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APC as Red List (low evidence)","entity_name":"APC","entity_type":"gene"},{"created":"2022-09-21T20:49:54.269594+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apc has been classified as Red List (Low Evidence).","entity_name":"APC","entity_type":"gene"},{"created":"2022-09-21T20:49:45.234466+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: APC.","entity_name":"APC","entity_type":"gene"},{"created":"2022-09-21T20:49:12.412988+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: APC.","entity_name":"APC","entity_type":"gene"},{"created":"2022-09-21T20:49:02.478359+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: APC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomatous polyposis coli, MIM# 175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"APC","entity_type":"gene"},{"created":"2022-09-21T20:46:10.197400+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4M1 as ready","entity_name":"AP4M1","entity_type":"gene"},{"created":"2022-09-21T20:46:10.186459+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4m1 has been classified as Red List (Low Evidence).","entity_name":"AP4M1","entity_type":"gene"},{"created":"2022-09-21T20:45:59.914389+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP4M1 as Red List (low evidence)","entity_name":"AP4M1","entity_type":"gene"},{"created":"2022-09-21T20:45:59.906387+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4m1 has been classified as Red List (Low Evidence).","entity_name":"AP4M1","entity_type":"gene"},{"created":"2022-09-21T20:45:44.249158+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4M1","entity_type":"gene"},{"created":"2022-09-21T20:42:53.236230+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4E1 as ready","entity_name":"AP4E1","entity_type":"gene"},{"created":"2022-09-21T20:42:53.227437+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4e1 has been classified as Red List (Low Evidence).","entity_name":"AP4E1","entity_type":"gene"},{"created":"2022-09-21T20:42:42.329921+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP4E1 as Red List (low evidence)","entity_name":"AP4E1","entity_type":"gene"},{"created":"2022-09-21T20:42:42.321775+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4e1 has been classified as Red List (Low Evidence).","entity_name":"AP4E1","entity_type":"gene"},{"created":"2022-09-21T20:42:30.329119+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4E1","entity_type":"gene"},{"created":"2022-09-21T20:40:21.773254+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4B1 as ready","entity_name":"AP4B1","entity_type":"gene"},{"created":"2022-09-21T20:40:21.765075+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4b1 has been classified as Red List (Low Evidence).","entity_name":"AP4B1","entity_type":"gene"},{"created":"2022-09-21T20:40:07.684602+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP4B1 as Red List (low evidence)","entity_name":"AP4B1","entity_type":"gene"},{"created":"2022-09-21T20:40:07.674664+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4b1 has been classified as Red List (Low Evidence).","entity_name":"AP4B1","entity_type":"gene"},{"created":"2022-09-21T20:39:55.702018+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP4B1","entity_type":"gene"},{"created":"2022-09-21T20:37:34.683395+10:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AP3B1.\nTag clinical trial tag was added to gene: AP3B1.","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T20:37:09.831849+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4944","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AP3B1.\nTag clinical trial tag was added to gene: AP3B1.","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T20:36:46.195601+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AP3B1.\nTag clinical trial tag was added to gene: AP3B1.","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T20:36:22.265926+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AP3B1.\nTag clinical trial tag was added to gene: AP3B1.","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T20:35:40.844167+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.338","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AP3B1.\nTag clinical trial tag was added to gene: AP3B1.","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T19:33:08.738019+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AP3B1.\nTag clinical trial tag was added to gene: AP3B1.","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T19:32:54.352273+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AP3B1.\nTag clinical trial tag was added to gene: AP3B1.","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T19:32:22.880201+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP3B1 as ready","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T19:32:22.861564+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3b1 has been classified as Green List (High Evidence).","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T19:32:19.154879+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP3B1 were changed from Hermansky-Pudlak syndrome 2 to Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T19:32:05.056220+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: AP3B1.\nTag clinical trial tag was added to gene: AP3B1.","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T19:31:52.371995+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B1","entity_type":"gene"},{"created":"2022-09-21T19:20:15.379382+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANTXR2 as ready","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2022-09-21T19:20:15.369749+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: antxr2 has been classified as Red List (Low Evidence).","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2022-09-21T19:20:09.275882+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANTXR2 were changed from Hyaline fibromatosis syndrome to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2022-09-21T19:19:56.666693+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANTXR2 as Red List (low evidence)","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2022-09-21T19:19:56.655682+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: antxr2 has been classified as Red List (Low Evidence).","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2022-09-21T19:19:45.890576+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANTXR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2022-09-21T19:10:52.017366+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANO10 as ready","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-09-21T19:10:52.009342+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ano10 has been classified as Red List (Low Evidence).","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-09-21T19:10:46.962674+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 to Spinocerebellar ataxia, autosomal recessive 10, MIM#613728","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-09-21T19:10:34.646967+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANO10 as Red List (low evidence)","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-09-21T19:10:34.637899+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ano10 has been classified as Red List (Low Evidence).","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-09-21T19:10:21.348135+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANO10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, MIM#613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANO10","entity_type":"gene"},{"created":"2022-09-21T19:08:47.565989+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKRD26 as ready","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2022-09-21T19:08:47.557017+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd26 has been classified as Red List (Low Evidence).","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2022-09-21T19:08:35.322998+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKRD26 were changed from Thrombocytopenia 2 to Thrombocytopaenia 2, MIM# 188000","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2022-09-21T19:08:23.894056+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANKRD26 as Red List (low evidence)","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2022-09-21T19:08:23.883260+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd26 has been classified as Red List (Low Evidence).","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2022-09-21T19:08:12.549372+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANKRD26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2022-09-21T19:06:35.940047+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKH as ready","entity_name":"ANKH","entity_type":"gene"},{"created":"2022-09-21T19:06:35.926526+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankh has been classified as Red List (Low Evidence).","entity_name":"ANKH","entity_type":"gene"},{"created":"2022-09-21T19:06:29.358621+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKH were changed from Craniometaphyseal dysplasia to Craniometaphyseal dysplasia MIM#123000","entity_name":"ANKH","entity_type":"gene"},{"created":"2022-09-21T19:06:15.056743+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANKH as Red List (low evidence)","entity_name":"ANKH","entity_type":"gene"},{"created":"2022-09-21T19:06:15.045706+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankh has been classified as Red List (Low Evidence).","entity_name":"ANKH","entity_type":"gene"},{"created":"2022-09-21T19:06:00.292400+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANKH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometaphyseal dysplasia MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKH","entity_type":"gene"},{"created":"2022-09-21T19:03:35.887782+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANK2 as ready","entity_name":"ANK2","entity_type":"gene"},{"created":"2022-09-21T19:03:35.878120+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ank2 has been classified as Red List (Low Evidence).","entity_name":"ANK2","entity_type":"gene"},{"created":"2022-09-21T19:03:28.714126+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANK2 as Red List (low evidence)","entity_name":"ANK2","entity_type":"gene"},{"created":"2022-09-21T19:03:28.694422+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ank2 has been classified as Red List (Low Evidence).","entity_name":"ANK2","entity_type":"gene"},{"created":"2022-09-21T19:03:17.510828+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANK2","entity_type":"gene"},{"created":"2022-09-21T19:00:49.497735+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANK1 as ready","entity_name":"ANK1","entity_type":"gene"},{"created":"2022-09-21T19:00:49.489623+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ank1 has been classified as Red List (Low Evidence).","entity_name":"ANK1","entity_type":"gene"},{"created":"2022-09-21T19:00:44.549063+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANK1 were changed from Spherocytosis to Spherocytosis, type 1 MIM#182900","entity_name":"ANK1","entity_type":"gene"},{"created":"2022-09-21T19:00:33.007253+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ANK1","entity_type":"gene"},{"created":"2022-09-21T19:00:23.376668+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANK1 as Red List (low evidence)","entity_name":"ANK1","entity_type":"gene"}]}