{"count":221413,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=343","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=341","results":[{"created":"2024-11-16T14:54:08.719794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2147","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nfatc2 has been classified as Amber List (Moderate Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-11-16T14:53:42.467627+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2146","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: NFATC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35789258, 38427060; Phenotypes: Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-11-16T14:52:23.575471+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.214","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NFATC2 as ready","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-11-16T14:52:23.564106+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.214","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nfatc2 has been classified as Amber List (Moderate Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-11-16T14:51:54.028590+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.214","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NFATC2 as Amber List (moderate evidence)","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-11-16T14:51:53.998581+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.214","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nfatc2 has been classified as Amber List (Moderate Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-11-16T14:49:35.640693+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.213","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NFATC2 was added\ngene: NFATC2 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFATC2 were set to 35789258; 38427060\nPhenotypes for gene: NFATC2 were set to Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related\nReview for gene: NFATC2 was set to AMBER\nAdded comment: 2 consanguineous families are reported with homozygous variants (a frameshift & an in-frame deletion). Both families have a lymphoproliferative disorder and one family also had soft tissue and cartilage abnormalities. IUIS IEI committee classify NFATC2-deficiency as a disease of immune dysregulation. \nSources: Expert list","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-11-16T14:34:48.782385+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.57","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:LACC1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-11-16T14:33:27.546646+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.212","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LACC1 as ready","entity_name":"LACC1","entity_type":"gene"},{"created":"2024-11-16T14:33:27.529306+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.212","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lacc1 has been classified as Green List (High Evidence).","entity_name":"LACC1","entity_type":"gene"},{"created":"2024-11-16T14:33:17.197878+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.212","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LACC1 as Green List (high evidence)","entity_name":"LACC1","entity_type":"gene"},{"created":"2024-11-16T14:33:17.185944+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.212","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: IUIS IEI classifies LACC1-deficiency as a disease of immune dysregulation","entity_name":"LACC1","entity_type":"gene"},{"created":"2024-11-16T14:33:17.155440+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.212","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lacc1 has been classified as Green List (High Evidence).","entity_name":"LACC1","entity_type":"gene"},{"created":"2024-11-16T14:31:03.682869+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.210","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LACC1 was added\ngene: LACC1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LACC1 were set to 25220867; 27881174; 30872671; 33718577\nPhenotypes for gene: LACC1 were set to juvenile arthritis due to defect in LACC1 MONDO:0032920","entity_name":"LACC1","entity_type":"gene"},{"created":"2024-11-16T14:29:51.193392+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.209","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: IL27RA as ready","entity_name":"IL27RA","entity_type":"gene"},{"created":"2024-11-16T14:29:51.181715+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.209","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: il27ra has been classified as Amber List (Moderate Evidence).","entity_name":"IL27RA","entity_type":"gene"},{"created":"2024-11-16T14:28:41.624163+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.209","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IL27RA as Amber List (moderate evidence)","entity_name":"IL27RA","entity_type":"gene"},{"created":"2024-11-16T14:28:41.607505+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.209","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: il27ra has been classified as Amber List (Moderate Evidence).","entity_name":"IL27RA","entity_type":"gene"},{"created":"2024-11-16T14:28:05.357824+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.208","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IL27RA was added\ngene: IL27RA was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL27RA were set to 38509369\nPhenotypes for gene: IL27RA were set to Epstein-Barr virus infection MONDO:0005111 , IL27RA-related\nReview for gene: IL27RA was set to AMBER\nAdded comment: 2 families reported. IL27RA-deficiency is classified as a disease of immune dysregulation by the IUIS IEI committee, under the Susceptibility to EBV and Lymphoproliferative Conditions subcategory. \nSources: Expert list","entity_name":"IL27RA","entity_type":"gene"},{"created":"2024-11-16T14:25:42.797600+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.207","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GIMAP5 as ready","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2024-11-16T14:25:42.775945+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.207","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gimap5 has been classified as Green List (High Evidence).","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2024-11-16T14:20:37.609077+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.207","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GIMAP5 as Green List (high evidence)","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2024-11-16T14:20:37.598373+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.207","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gimap5 has been classified as Green List (High Evidence).","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2024-11-16T14:20:06.552169+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.206","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GIMAP5 was added\ngene: GIMAP5 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GIMAP5 were set to 33956074\nPhenotypes for gene: GIMAP5 were set to portal hypertension, noncirrhotic, 2 MONDO:0030397\nReview for gene: GIMAP5 was set to GREEN\ngene: GIMAP5 was marked as current diagnostic\nAdded comment: At least 4 families reported. GIMAP5-deficiency is classified as a disease of immune dysregulation by the IUIS IEI committee, under the Autoimmunity with or without Lymphoproliferation subcategory. \nSources: Expert list","entity_name":"GIMAP5","entity_type":"gene"},{"created":"2024-11-16T14:14:17.009531+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.205","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FERMT1 as ready","entity_name":"FERMT1","entity_type":"gene"},{"created":"2024-11-16T14:14:16.973394+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.205","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fermt1 has been classified as Green List (High Evidence).","entity_name":"FERMT1","entity_type":"gene"},{"created":"2024-11-16T14:14:13.531951+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.205","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FERMT1 as Green List (high evidence)","entity_name":"FERMT1","entity_type":"gene"},{"created":"2024-11-16T14:14:13.523195+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.205","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fermt1 has been classified as Green List (High Evidence).","entity_name":"FERMT1","entity_type":"gene"},{"created":"2024-11-16T14:13:44.886495+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.204","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FERMT1 was added\ngene: FERMT1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FERMT1 were set to 34512655\nPhenotypes for gene: FERMT1 were set to Kindler syndrome MONDO:0008260\nReview for gene: FERMT1 was set to GREEN\ngene: FERMT1 was marked as current diagnostic\nAdded comment: The IUIS IEI committee classifies FERMT1 deficiency (aka Kindler syndrome) as a disease of immune dysregulation under the Regulatory T Cell Defects subcategory. \nSources: Expert list","entity_name":"FERMT1","entity_type":"gene"},{"created":"2024-11-16T14:07:11.560557+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.203","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FAAP24 as Red List (low evidence)","entity_name":"FAAP24","entity_type":"gene"},{"created":"2024-11-16T14:07:11.553487+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.203","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Disputed gene-disease association by the Primary Immune Regulatory Disorders GCEP (https://search.clinicalgenome.org/CCID:008245).","entity_name":"FAAP24","entity_type":"gene"},{"created":"2024-11-16T14:07:11.513423+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.203","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: faap24 has been classified as Red List (Low Evidence).","entity_name":"FAAP24","entity_type":"gene"},{"created":"2024-11-16T14:03:59.328472+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.202","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ERN1 as ready","entity_name":"ERN1","entity_type":"gene"},{"created":"2024-11-16T14:03:59.312752+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.202","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ern1 has been classified as Red List (Low Evidence).","entity_name":"ERN1","entity_type":"gene"},{"created":"2024-11-16T14:03:42.527910+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.202","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ERN1 was added\ngene: ERN1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: ERN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ERN1 were set to Immune dysregulation\nReview for gene: ERN1 was set to RED\nAdded comment: On the IUIS 2024 update for IEIs as a gene associated with an AD disease of immune dysregulation, I cannot find any evidence of Mendelian disease. \nSources: Expert list","entity_name":"ERN1","entity_type":"gene"},{"created":"2024-11-16T13:30:40.086011+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.201","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DPP9 as ready","entity_name":"DPP9","entity_type":"gene"},{"created":"2024-11-16T13:30:40.073117+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.201","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dpp9 has been classified as Green List (High Evidence).","entity_name":"DPP9","entity_type":"gene"},{"created":"2024-11-16T13:30:35.456345+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.201","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DPP9 as Green List (high evidence)","entity_name":"DPP9","entity_type":"gene"},{"created":"2024-11-16T13:30:35.445180+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.201","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dpp9 has been classified as Green List (High Evidence).","entity_name":"DPP9","entity_type":"gene"},{"created":"2024-11-16T13:30:03.644171+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.200","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DPP9 was added\ngene: DPP9 was added to Disorders of immune dysregulation. Sources: Expert Review\nMode of inheritance for gene: DPP9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPP9 were set to 36112693\nPhenotypes for gene: DPP9 were set to hatipoglu immunodeficiency syndrome MONDO:0957229\nReview for gene: DPP9 was set to GREEN\ngene: DPP9 was marked as current diagnostic\nAdded comment: 3 unrelated families and supporting null mouse model. IUIS IEI committee assign the condition to diseases of immune dysregulation in the subcategory of Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes). \nSources: Expert Review","entity_name":"DPP9","entity_type":"gene"},{"created":"2024-11-16T13:19:49.907933+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.199","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ARPC5 as ready","entity_name":"ARPC5","entity_type":"gene"},{"created":"2024-11-16T13:19:49.897498+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.199","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arpc5 has been classified as Green List (High Evidence).","entity_name":"ARPC5","entity_type":"gene"},{"created":"2024-11-16T13:19:18.253437+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.199","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARPC5 as Green List (high evidence)","entity_name":"ARPC5","entity_type":"gene"},{"created":"2024-11-16T13:19:18.240520+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.199","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arpc5 has been classified as Green List (High Evidence).","entity_name":"ARPC5","entity_type":"gene"},{"created":"2024-11-16T13:18:44.752773+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.198","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARPC5 was added\ngene: ARPC5 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARPC5 were set to 37382373; 37349293\nPhenotypes for gene: ARPC5 were set to Immunodeficiency 133 with autoimmunity and autoinflammation\tMIM#620565\nReview for gene: ARPC5 was set to GREEN\ngene: ARPC5 was marked as current diagnostic\nAdded comment: 3 unrelated consanguineous families with homozygous variants and supporting in vitro functional assays. Immune dysregulation is a prominent feature of the condition. The IUIS IEI committee classify it as a disease of immune dysregulation in the subcategory of autoimmunity with or without lymphoproliferation. \nSources: Expert list","entity_name":"ARPC5","entity_type":"gene"},{"created":"2024-11-15T17:29:03.784902+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2024-11-15T17:26:53.667756+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6911","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FMR1 as ready","entity_name":"FMR1","entity_type":"gene"},{"created":"2024-11-15T17:26:53.650264+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6911","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fmr1 has been classified as Green List (High Evidence).","entity_name":"FMR1","entity_type":"gene"},{"created":"2024-11-15T17:26:44.043411+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6911","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FMR1 were changed from  to fragile X syndrome MONDO:0010383","entity_name":"FMR1","entity_type":"gene"},{"created":"2024-11-15T17:26:04.582930+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6910","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FMR1 were set to ","entity_name":"FMR1","entity_type":"gene"},{"created":"2024-11-15T17:25:22.701913+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6909","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FMR1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FMR1","entity_type":"gene"},{"created":"2024-11-15T17:24:17.451484+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6908","user_name":"Zornitza Stark","item_type":"entity","text":"Marked STR: FRAXE as ready","entity_name":"FRAXE","entity_type":"str"},{"created":"2024-11-15T17:24:17.433471+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6908","user_name":"Zornitza Stark","item_type":"entity","text":"Str: fraxe has been classified as Green List (High Evidence).","entity_name":"FRAXE","entity_type":"str"},{"created":"2024-11-15T17:24:11.402746+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6908","user_name":"Zornitza Stark","item_type":"entity","text":"Tag STR tag was added to STR: FRAXE.","entity_name":"FRAXE","entity_type":"str"},{"created":"2024-11-15T17:23:09.239601+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6908","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HADHA as ready","entity_name":"HADHA","entity_type":"gene"},{"created":"2024-11-15T17:23:09.227216+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6908","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hadha has been classified as Green List (High Evidence).","entity_name":"HADHA","entity_type":"gene"},{"created":"2024-11-15T17:23:04.529136+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6908","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HADHA were changed from  to long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0012173","entity_name":"HADHA","entity_type":"gene"},{"created":"2024-11-15T17:22:23.681145+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6907","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HADHA were set to ","entity_name":"HADHA","entity_type":"gene"},{"created":"2024-11-15T17:21:44.642269+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6906","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HADHA","entity_type":"gene"},{"created":"2024-11-15T17:17:15.230431+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6905","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX14 as ready","entity_name":"PEX14","entity_type":"gene"},{"created":"2024-11-15T17:17:15.214120+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6905","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex14 has been classified as Green List (High Evidence).","entity_name":"PEX14","entity_type":"gene"},{"created":"2024-11-15T17:05:56.634219+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6905","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AHSG as ready","entity_name":"AHSG","entity_type":"gene"},{"created":"2024-11-15T17:05:56.624296+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6905","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ahsg has been classified as Red List (Low Evidence).","entity_name":"AHSG","entity_type":"gene"},{"created":"2024-11-15T17:05:07.051252+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6905","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STN1 as ready","entity_name":"STN1","entity_type":"gene"},{"created":"2024-11-15T17:05:07.037501+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6905","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stn1 has been classified as Amber List (Moderate Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2024-11-15T17:04:49.395567+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6905","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STN1 were changed from cerebral calcification; premature ageing; bone marrow failure; retinal telangiactasia; hepatic fibrosis to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341","entity_name":"STN1","entity_type":"gene"},{"created":"2024-11-15T16:56:53.121700+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6904","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCNT as ready","entity_name":"PCNT","entity_type":"gene"},{"created":"2024-11-15T16:56:53.092942+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6904","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcnt has been classified as Amber List (Moderate Evidence).","entity_name":"PCNT","entity_type":"gene"},{"created":"2024-11-15T16:56:48.299307+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6904","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCNT were changed from  to Microcephalic osteodysplastic primordial dwarfism, type II MIM#210720","entity_name":"PCNT","entity_type":"gene"},{"created":"2024-11-15T16:56:10.999663+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6903","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCNT were set to ","entity_name":"PCNT","entity_type":"gene"},{"created":"2024-11-15T16:55:39.697197+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6902","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCNT was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCNT","entity_type":"gene"},{"created":"2024-11-15T16:55:04.274260+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6901","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCNT","entity_type":"gene"},{"created":"2024-11-15T16:54:37.319505+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6901","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCNT as Amber List (moderate evidence)","entity_name":"PCNT","entity_type":"gene"},{"created":"2024-11-15T16:54:37.309265+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6901","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcnt has been classified as Amber List (Moderate Evidence).","entity_name":"PCNT","entity_type":"gene"},{"created":"2024-11-15T16:54:09.974461+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6900","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCNT as Amber List (moderate evidence)","entity_name":"PCNT","entity_type":"gene"},{"created":"2024-11-15T16:54:09.962490+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6900","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcnt has been classified as Amber List (Moderate Evidence).","entity_name":"PCNT","entity_type":"gene"},{"created":"2024-11-15T16:53:13.715138+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6899","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PC as ready","entity_name":"PC","entity_type":"gene"},{"created":"2024-11-15T16:53:13.703787+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6899","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pc has been classified as Green List (High Evidence).","entity_name":"PC","entity_type":"gene"},{"created":"2024-11-15T16:53:09.772023+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6899","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PC were changed from  to Pyruvate carboxylase deficiency - MIM#266150","entity_name":"PC","entity_type":"gene"},{"created":"2024-11-15T16:52:27.241868+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6898","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PC were set to ","entity_name":"PC","entity_type":"gene"},{"created":"2024-11-15T16:51:44.583239+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6897","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PC","entity_type":"gene"},{"created":"2024-11-15T16:50:59.224679+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6896","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX8 as ready","entity_name":"PAX8","entity_type":"gene"},{"created":"2024-11-15T16:50:59.197347+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6896","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax8 has been classified as Green List (High Evidence).","entity_name":"PAX8","entity_type":"gene"},{"created":"2024-11-15T16:50:55.287345+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6896","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX8 were changed from  to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700","entity_name":"PAX8","entity_type":"gene"},{"created":"2024-11-15T16:50:04.379873+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6895","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAX8 were set to ","entity_name":"PAX8","entity_type":"gene"},{"created":"2024-11-15T16:49:08.243658+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6894","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAX8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX8","entity_type":"gene"},{"created":"2024-11-15T16:48:19.294553+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6893","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX6 as ready","entity_name":"PAX6","entity_type":"gene"},{"created":"2024-11-15T16:48:19.278693+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6893","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax6 has been classified as Green List (High Evidence).","entity_name":"PAX6","entity_type":"gene"},{"created":"2024-11-15T16:48:14.788888+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6893","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX6 were changed from Microphthalmia/coloboma 12, OMIM #120200 to Microphthalmia/coloboma 12, OMIM #120200","entity_name":"PAX6","entity_type":"gene"},{"created":"2024-11-15T16:47:44.513021+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6892","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX6 were changed from  to Microphthalmia/coloboma 12, OMIM #120200","entity_name":"PAX6","entity_type":"gene"},{"created":"2024-11-15T16:47:02.393177+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6891","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAX6 were set to ","entity_name":"PAX6","entity_type":"gene"},{"created":"2024-11-15T16:46:19.129444+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6890","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX6","entity_type":"gene"},{"created":"2024-11-15T16:45:23.633338+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6889","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PARN as ready","entity_name":"PARN","entity_type":"gene"},{"created":"2024-11-15T16:45:23.604972+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6889","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parn has been classified as Green List (High Evidence).","entity_name":"PARN","entity_type":"gene"},{"created":"2024-11-15T16:44:56.168187+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6889","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PARN were changed from  to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353","entity_name":"PARN","entity_type":"gene"},{"created":"2024-11-15T16:44:13.902794+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6888","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PARN were set to ","entity_name":"PARN","entity_type":"gene"},{"created":"2024-11-15T16:43:16.762256+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6887","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PARN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PARN","entity_type":"gene"},{"created":"2024-11-15T16:42:22.992838+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6886","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTX2 as ready","entity_name":"OTX2","entity_type":"gene"},{"created":"2024-11-15T16:42:22.975262+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6886","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otx2 has been classified as Green List (High Evidence).","entity_name":"OTX2","entity_type":"gene"},{"created":"2024-11-15T16:42:11.937336+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6886","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OTX2 were changed from  to Microphthalmia, syndromic 5, MIM# 610125; Pituitary hormone deficiency, combined, 6, MIM# 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125; Otocephaly-dysgnathia complex","entity_name":"OTX2","entity_type":"gene"}]}