{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=698","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=696","results":[{"created":"2022-11-09T20:44:44.666226+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hk1 has been classified as Green List (High Evidence).","entity_name":"HK1","entity_type":"gene"},{"created":"2022-11-09T20:44:12.103361+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified.; to: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified in individuals with hyperinsulinism.","entity_name":"HK1","entity_type":"gene"},{"created":"2022-11-09T20:43:57.820418+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HK1: Added comment: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified.; Changed publications: 36333503; Changed phenotypes: Hyperinsulinism MONDO:0002177, HK1-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HK1","entity_type":"gene"},{"created":"2022-11-09T18:32:29.055362+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.867","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: PALB2.","entity_name":"PALB2","entity_type":"gene"},{"created":"2022-11-09T18:31:25.936910+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.867","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Clinical trial due to start in VIC. Age at entry is 2 years and older.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.\r\n\r\nKeep on Amber list.","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-11-09T18:31:10.140762+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.867","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Clinical trial due to start in VIC.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-11-09T18:30:32.554779+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.867","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCN8A as Red List (low evidence)","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-11-09T18:30:32.542095+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.867","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn8a has been classified as Red List (Low Evidence).","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-11-09T18:30:23.039408+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SCN8A.","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-11-09T18:30:15.224979+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-11-09T18:27:57.554302+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: NPC2.","entity_name":"NPC2","entity_type":"gene"},{"created":"2022-11-09T18:26:50.486993+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: MYO6.","entity_name":"MYO6","entity_type":"gene"},{"created":"2022-11-09T17:58:40.184277+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: PAX6.","entity_name":"PAX6","entity_type":"gene"},{"created":"2022-11-09T17:57:32.548703+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SLC12A3.","entity_name":"SLC12A3","entity_type":"gene"},{"created":"2022-11-09T17:56:38.957973+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: NBN.","entity_name":"NBN","entity_type":"gene"},{"created":"2022-11-09T17:51:47.223671+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: TYR.","entity_name":"TYR","entity_type":"gene"},{"created":"2022-11-09T17:51:33.054728+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Treatment is supportive.\r\n\r\nFor review.; to: Diagnosis is clinical. Treatment is supportive.\r\n","entity_name":"TYR","entity_type":"gene"},{"created":"2022-11-09T17:50:14.669079+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APC as Amber List (moderate evidence)","entity_name":"APC","entity_type":"gene"},{"created":"2022-11-09T17:50:14.658652+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apc has been classified as Amber List (Moderate Evidence).","entity_name":"APC","entity_type":"gene"},{"created":"2022-11-09T17:50:00.937723+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.865","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: APC.","entity_name":"APC","entity_type":"gene"},{"created":"2022-11-09T17:47:59.543209+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.865","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMA2 as Green List (high evidence)","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-11-09T17:47:59.534250+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.865","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama2 has been classified as Green List (High Evidence).","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-11-09T17:47:48.981447+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"Tag pharmacogenomic tag was added to gene: LAMA2.","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-11-09T17:47:38.164752+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LAMA2: Changed rating: GREEN","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-11-09T17:47:27.908591+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: No specific treatment.; to: No specific treatment.\r\nSuccinylcholine in induction of anaesthesia because of risk of hyperkalaemia and cardiac conduction abnormalities; statins, cholesterol-lowering medications, because of the risk of muscle damage.","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-11-09T17:45:44.049462+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: LAMA2.","entity_name":"LAMA2","entity_type":"gene"},{"created":"2022-11-09T17:43:29.134531+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: DGUOK.","entity_name":"DGUOK","entity_type":"gene"},{"created":"2022-11-09T17:43:21.291479+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene disease association.\r\n\r\nVariable age of onset ranging from severe neonatal presentations to adult.\r\n\r\nSee comments below about treatment: emerging approaches.\r\n\r\nFor review.; to: Well established gene disease association.\r\n\r\nVariable age of onset ranging from severe neonatal presentations to adult.\r\n\r\nSee comments below about treatment: emerging approaches. May not be eligible for liver transplant due to multi-system involvement.\r\n\r\nFor review.","entity_name":"DGUOK","entity_type":"gene"},{"created":"2022-11-09T17:41:09.193309+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: ALAS2.","entity_name":"ALAS2","entity_type":"gene"},{"created":"2022-11-09T17:40:25.018475+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDB2 as ready","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-11-09T17:40:24.994705+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddb2 has been classified as Red List (Low Evidence).","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-11-09T17:40:22.448343+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACVRL1 were set to ","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-11-09T17:40:12.268269+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.863","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACVRL1 as Green List (high evidence)","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-11-09T17:40:12.248152+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.863","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvrl1 has been classified as Green List (High Evidence).","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-11-09T17:40:03.626593+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.862","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: ACVRL1.","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-11-09T17:39:54.972153+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.862","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nVariable age of symptom onset and severity.\r\n\r\nNo specific treatment available.\r\n\r\nHowever, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.; to: Well established gene-disease association.\r\n\r\nVariable age of symptom onset and severity.\r\n\r\nNo specific treatment available but emboli zing AVMs alters their natural history.\r\n\r\nManagement guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-11-09T17:39:27.442563+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.862","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACVRL1: Changed rating: GREEN","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2022-11-09T17:37:40.140881+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.862","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: PCBD1.","entity_name":"PCBD1","entity_type":"gene"},{"created":"2022-11-09T17:37:25.343825+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.862","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nPresents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.\r\n; to: Well established gene-disease association.\r\n\r\nPresents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.\r\n","entity_name":"PCBD1","entity_type":"gene"},{"created":"2022-11-09T17:34:45.851731+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.862","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFPT1 as ready","entity_name":"GFPT1","entity_type":"gene"},{"created":"2022-11-09T17:34:45.841538+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.862","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfpt1 has been classified as Red List (Low Evidence).","entity_name":"GFPT1","entity_type":"gene"},{"created":"2022-11-09T17:34:37.323104+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.862","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GFPT1 as Red List (low evidence)","entity_name":"GFPT1","entity_type":"gene"},{"created":"2022-11-09T17:34:37.314211+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.862","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfpt1 has been classified as Red List (Low Evidence).","entity_name":"GFPT1","entity_type":"gene"},{"created":"2022-11-09T17:34:26.292627+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.861","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFPT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFPT1","entity_type":"gene"},{"created":"2022-11-09T17:33:03.593268+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.861","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: GFPT1.","entity_name":"GFPT1","entity_type":"gene"},{"created":"2022-11-09T17:32:15.066728+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.861","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFM1 as ready","entity_name":"GFM1","entity_type":"gene"},{"created":"2022-11-09T17:32:15.052992+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.861","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfm1 has been classified as Red List (Low Evidence).","entity_name":"GFM1","entity_type":"gene"},{"created":"2022-11-09T17:32:10.915957+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.861","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFM1 were changed from Combined oxidative phosphorylation deficiency 1 to Combined oxidative phosphorylation deficiency 1, MIM#609060","entity_name":"GFM1","entity_type":"gene"},{"created":"2022-11-09T17:31:58.899113+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.860","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GFM1 as Red List (low evidence)","entity_name":"GFM1","entity_type":"gene"},{"created":"2022-11-09T17:31:58.888489+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.860","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfm1 has been classified as Red List (Low Evidence).","entity_name":"GFM1","entity_type":"gene"},{"created":"2022-11-09T17:31:47.844090+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.859","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFM1","entity_type":"gene"},{"created":"2022-11-09T17:29:50.953220+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.859","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFAP as ready","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-11-09T17:29:50.945452+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.859","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfap has been classified as Amber List (Moderate Evidence).","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-11-09T17:29:46.326193+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.859","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFAP were changed from Alexander disease to Alexander disease, MIM#203450","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-11-09T17:29:31.913359+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.858","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GFAP as Amber List (moderate evidence)","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-11-09T17:29:31.899034+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.858","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfap has been classified as Amber List (Moderate Evidence).","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-11-09T17:28:52.314137+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: GFAP.\nTag clinical trial tag was added to gene: GFAP.","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-11-09T17:28:38.332927+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-11-09T17:26:13.413640+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PALB2 as ready","entity_name":"PALB2","entity_type":"gene"},{"created":"2022-11-09T17:26:13.404222+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: palb2 has been classified as Green List (High Evidence).","entity_name":"PALB2","entity_type":"gene"},{"created":"2022-11-09T17:25:56.561842+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group N, OMIM 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PALB2","entity_type":"gene"},{"created":"2022-11-09T17:24:30.716760+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHCR7 as Green List (high evidence)","entity_name":"DHCR7","entity_type":"gene"},{"created":"2022-11-09T17:24:30.708050+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhcr7 has been classified as Green List (High Evidence).","entity_name":"DHCR7","entity_type":"gene"},{"created":"2022-11-09T17:24:18.292659+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.856","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nPerinatal onset.\r\n\r\nCholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.\r\n\r\nFor review.; to: Well established gene-disease association.\r\n\r\nPerinatal onset.\r\n\r\nCholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes but some improvement seen in metabolic parameters, and behavioural manifestations.\r\n\r\n","entity_name":"DHCR7","entity_type":"gene"},{"created":"2022-11-09T17:23:20.931023+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.856","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nPerinatal onset.\r\n\r\nQuestionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.\r\n\r\nFor review.; to: Well established gene-disease association.\r\n\r\nPerinatal onset.\r\n\r\nCholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.\r\n\r\nFor review.","entity_name":"DHCR7","entity_type":"gene"},{"created":"2022-11-09T17:22:43.405350+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.856","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DHCR7: Changed rating: GREEN","entity_name":"DHCR7","entity_type":"gene"},{"created":"2022-11-09T17:22:14.407815+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.856","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: DHCR7.","entity_name":"DHCR7","entity_type":"gene"},{"created":"2022-11-09T17:18:02.719690+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.856","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SERPINA1 as Red List (low evidence)","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2022-11-09T17:18:02.708195+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.856","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serpina1 has been classified as Red List (Low Evidence).","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2022-11-09T17:17:54.527006+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.855","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: SERPINA1.","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2022-11-09T17:17:45.459196+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.855","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SERPINA1","entity_type":"gene"},{"created":"2022-11-09T17:13:32.827508+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.855","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UROD as Red List (low evidence)","entity_name":"UROD","entity_type":"gene"},{"created":"2022-11-09T17:13:32.818853+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.855","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: urod has been classified as Red List (Low Evidence).","entity_name":"UROD","entity_type":"gene"},{"created":"2022-11-09T17:10:27.314441+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.854","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDB2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-11-09T17:10:12.556305+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.853","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDB2 were set to ","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-11-09T17:09:57.419450+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.852","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DDB2 as Red List (low evidence)","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-11-09T17:09:57.409787+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.852","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddb2 has been classified as Red List (Low Evidence).","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-11-09T17:09:45.862035+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.851","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DDB2: Changed rating: RED","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-11-09T15:25:47.161801+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.851","user_name":"Alison Yeung","item_type":"entity","text":"Tag for review tag was added to gene: GFPT1.","entity_name":"GFPT1","entity_type":"gene"},{"created":"2022-11-09T15:25:29.906667+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.851","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFPT1","entity_type":"gene"},{"created":"2022-11-09T15:18:18.543299+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.851","user_name":"Alison Yeung","item_type":"entity","text":"Tag review tag was added to gene: GFM1.","entity_name":"GFM1","entity_type":"gene"},{"created":"2022-11-09T15:18:00.209248+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.851","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFM1","entity_type":"gene"},{"created":"2022-11-09T15:11:25.589512+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.851","user_name":"Alison Yeung","item_type":"entity","text":"Tag for review tag was added to gene: GFAP.","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-11-09T15:10:38.669034+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.851","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFAP","entity_type":"gene"},{"created":"2022-11-09T14:50:03.839477+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.851","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706, Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340, Charcot-Marie-Tooth disease, type 4A, MIM#214400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"GDAP1","entity_type":"gene"},{"created":"2022-11-09T12:40:19.065088+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.851","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DMPK as ready","entity_name":"DMPK","entity_type":"gene"},{"created":"2022-11-09T12:40:19.052780+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.851","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmpk has been classified as Red List (Low Evidence).","entity_name":"DMPK","entity_type":"gene"},{"created":"2022-11-09T12:40:11.945420+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.851","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 to Myotonic dystrophy 1, MIM# 160900","entity_name":"DMPK","entity_type":"gene"},{"created":"2022-11-09T12:39:59.388124+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.850","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DMPK as Red List (low evidence)","entity_name":"DMPK","entity_type":"gene"},{"created":"2022-11-09T12:39:59.378096+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.850","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dmpk has been classified as Red List (Low Evidence).","entity_name":"DMPK","entity_type":"gene"},{"created":"2022-11-09T12:39:48.192585+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.849","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM# 160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DMPK","entity_type":"gene"},{"created":"2022-11-09T12:36:56.762670+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.849","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: DDB2.","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-11-09T12:36:43.713829+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.849","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32530099, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-11-09T12:30:29.713428+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.849","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCX as ready","entity_name":"DCX","entity_type":"gene"},{"created":"2022-11-09T12:30:29.701335+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.849","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcx has been classified as Red List (Low Evidence).","entity_name":"DCX","entity_type":"gene"},{"created":"2022-11-09T12:30:25.280556+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.849","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCX were changed from Lissencephaly, X-linked, MIM# 300067 to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067","entity_name":"DCX","entity_type":"gene"},{"created":"2022-11-09T12:30:12.894079+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.848","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DCX as Red List (low evidence)","entity_name":"DCX","entity_type":"gene"},{"created":"2022-11-09T12:30:12.885539+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.848","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcx has been classified as Red List (Low Evidence).","entity_name":"DCX","entity_type":"gene"},{"created":"2022-11-09T12:29:48.379056+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.847","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DCX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"DCX","entity_type":"gene"},{"created":"2022-11-09T12:28:35.320193+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.847","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCLRE1C as ready","entity_name":"DCLRE1C","entity_type":"gene"}]}