Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=169
{ "count": 35560, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=170", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=168", "results": [ { "gene_data": { "alias": [ "DKFZp564K142", "IAP", "OST3B", "MRX95" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28880", "gene_name": "magnesium transporter 1", "omim_gene": [ "300715" ], "alias_name": [ "oligosaccharyltransferase 3 homolog B (S. cerevisiae)" ], "gene_symbol": "MAGT1", "hgnc_symbol": "MAGT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:77081861-77151090", "ensembl_id": "ENSG00000102158" } }, "GRch38": { "90": { "location": "X:77826364-77895593", "ensembl_id": "ENSG00000102158" } } }, "hgnc_date_symbol_changed": "2008-01-18" }, "entity_type": "gene", "entity_name": "MAGT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21796205", "24550228", "25504528" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM#\t300853" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ACT35", "OX40", "CD134" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11918", "gene_name": "TNF receptor superfamily member 4", "omim_gene": [ "600315" ], "alias_name": null, "gene_symbol": "TNFRSF4", "hgnc_symbol": "TNFRSF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:1146706-1149518", "ensembl_id": "ENSG00000186827" } }, "GRch38": { "90": { "location": "1:1211326-1214138", "ensembl_id": "ENSG00000186827" } } }, "hgnc_date_symbol_changed": "1994-12-15" }, "entity_type": "gene", "entity_name": "TNFRSF4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23897980" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Immunodeficiency 16, MIM#\t615593" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IL18BPa" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5987", "gene_name": "interleukin 18 binding protein", "omim_gene": [ "604113" ], "alias_name": [ "MC51L-53L-54L homolog gene product" ], "gene_symbol": "IL18BP", "hgnc_symbol": "IL18BP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:71709587-71716761", "ensembl_id": "ENSG00000137496" } }, "GRch38": { "90": { "location": "11:71998541-72005715", "ensembl_id": "ENSG00000137496" } } }, "hgnc_date_symbol_changed": "1999-05-21" }, "entity_type": "gene", "entity_name": "IL18BP", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31213488", "41334112" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "{Hepatitis, fulminant viral, susceptibility to}\t618549" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:15594", "gene_name": "debranching RNA lariats 1", "omim_gene": [ "607024" ], "alias_name": null, "gene_symbol": "DBR1", "hgnc_symbol": "DBR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:137879854-137893791", "ensembl_id": "ENSG00000138231" } }, "GRch38": { "90": { "location": "3:138161012-138174949", "ensembl_id": "ENSG00000138231" } } }, "hgnc_date_symbol_changed": "2001-04-26" }, "entity_type": "gene", "entity_name": "DBR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29474921" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "{Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441", "Viral infections of the brainstem" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CKR-5", "CC-CKR-5", "CKR5", "CD195", "IDDM22" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1606", "gene_name": "C-C motif chemokine receptor 5 (gene/pseudogene)", "omim_gene": [ "601373" ], "alias_name": null, "gene_symbol": "CCR5", "hgnc_symbol": "CCR5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:46411633-46417697", "ensembl_id": "ENSG00000160791" } }, "GRch38": { "90": { "location": "3:46370854-46376206", "ensembl_id": "ENSG00000160791" } } }, "hgnc_date_symbol_changed": "1996-05-15" }, "entity_type": "gene", "entity_name": "CCR5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "{Hepatitis C virus, resistance to}\t609532", "{HIV infection, susceptibility/resistance to}", "{West nile virus, susceptibility to}MIM#\t610379" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "sej", "Se2", "SEC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4013", "gene_name": "fucosyltransferase 2", "omim_gene": [ "182100" ], "alias_name": [ "alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase" ], "gene_symbol": "FUT2", "hgnc_symbol": "FUT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:49199228-49209207", "ensembl_id": "ENSG00000176920" } }, "GRch38": { "90": { "location": "19:48695971-48705950", "ensembl_id": "ENSG00000176920" } } }, "hgnc_date_symbol_changed": "1989-06-06" }, "entity_type": "gene", "entity_name": "FUT2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Norwalk virus infection, resistance to" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1678", "gene_name": "CD4 molecule", "omim_gene": [ "186940" ], "alias_name": null, "gene_symbol": "CD4", "hgnc_symbol": "CD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6896024-6929974", "ensembl_id": "ENSG00000010610" } }, "GRch38": { "90": { "location": "12:6786858-6820808", "ensembl_id": "ENSG00000010610" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CD4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31781092", "33471124" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Immunodeficiency 79, MIM# 619238", "Absence of CD4+ T cells", "exuberant, relapsing, treatment-refractory warts" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "S152", "Tp55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11922", "gene_name": "CD27 molecule", "omim_gene": [ "186711" ], "alias_name": null, "gene_symbol": "CD27", "hgnc_symbol": "CD27", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6554033-6560884", "ensembl_id": "ENSG00000139193" } }, "GRch38": { "90": { "location": "12:6444867-6451718", "ensembl_id": "ENSG00000139193" } } }, "hgnc_date_symbol_changed": "2006-10-27" }, "entity_type": "gene", "entity_name": "CD27", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22801960", "22197273" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Lymphoproliferative syndrome 2, MIM#\t615122", "Host response to EBV" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5433", "gene_name": "interferon alpha and beta receptor subunit 2", "omim_gene": [ "602376" ], "alias_name": null, "gene_symbol": "IFNAR2", "hgnc_symbol": "IFNAR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:34602206-34637980", "ensembl_id": "ENSG00000159110" } }, "GRch38": { "90": { "location": "21:33229901-33265675", "ensembl_id": "ENSG00000159110" } } }, "hgnc_date_symbol_changed": "1995-05-08" }, "entity_type": "gene", "entity_name": "IFNAR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26424569", "35442417" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency 45, MIM#\t616669" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hILP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:592", "gene_name": "X-linked inhibitor of apoptosis", "omim_gene": [ "300079" ], "alias_name": null, "gene_symbol": "XIAP", "hgnc_symbol": "XIAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:122993574-123047829", "ensembl_id": "ENSG00000101966" } }, "GRch38": { "90": { "location": "X:123859724-123913979", "ensembl_id": "ENSG00000101966" } } }, "hgnc_date_symbol_changed": "2008-03-04" }, "entity_type": "gene", "entity_name": "XIAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17080092" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Lymphoproliferative syndrome, X-linked, 2\t300635", "Host response to EBV" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ACA31", "SNORA31A" ], "biotype": "snoRNA", "hgnc_id": "HGNC:32621", "gene_name": "small nucleolar RNA, H/ACA box 31", "omim_gene": null, "alias_name": null, "gene_symbol": "SNORA31", "hgnc_symbol": "SNORA31", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:45911615-45911744", "ensembl_id": "ENSG00000199477" } }, "GRch38": { "90": { "location": "13:45337480-45337609", "ensembl_id": "ENSG00000199477" } } }, "hgnc_date_symbol_changed": "2006-04-04" }, "entity_type": "gene", "entity_name": "SNORA31", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31806906" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM#\t619396" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "non-coding gene" ], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). 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"melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:18648", "gene_name": "dipeptidyl peptidase 9", "omim_gene": [ "608258" ], "alias_name": null, "gene_symbol": "DPP9", "hgnc_symbol": "DPP9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:4675236-4724685", "ensembl_id": "ENSG00000142002" } }, "GRch38": { "90": { "location": "19:4675224-4724673", "ensembl_id": "ENSG00000142002" } } }, "hgnc_date_symbol_changed": "2002-05-21" }, "entity_type": "gene", "entity_name": "DPP9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36112693" ], 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"description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NAK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11584", "gene_name": "TANK binding kinase 1", "omim_gene": [ "604834" ], "alias_name": null, "gene_symbol": "TBK1", "hgnc_symbol": "TBK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:64845660-64895888", "ensembl_id": "ENSG00000183735" } }, "GRch38": { "90": { "location": "12:64451880-64502108", "ensembl_id": "ENSG00000183735" } } }, "hgnc_date_symbol_changed": "2000-06-08" }, "entity_type": "gene", "entity_name": "TBK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 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"2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IKK-gamma", "NEMO", "Fip3p", "FIP-3", "FIP3", "ZC2HC9" ], "biotype": null, "hgnc_id": "HGNC:5961", "gene_name": "inhibitor of nuclear factor kappa B kinase subunit gamma", "omim_gene": [ "300248" ], "alias_name": null, "gene_symbol": "IKBKG", "hgnc_symbol": "IKBKG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153769414-153796782", "ensembl_id": "ENSG00000073009" } }, "GRch38": { "90": { "location": "X:154541199-154565046", "ensembl_id": "ENSG00000269335" } } }, "hgnc_date_symbol_changed": "1998-09-30" }, "entity_type": "gene", "entity_name": "IKBKG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31874111", "35289316" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Autoinflammatory disease, systemic, X-linked, MIM#\t301081" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CRP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1836", "gene_name": "CCAAT/enhancer binding protein epsilon", "omim_gene": [ "600749" ], "alias_name": null, "gene_symbol": "CEBPE", "hgnc_symbol": "CEBPE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23586513-23588825", "ensembl_id": "ENSG00000092067" } }, "GRch38": { "90": { "location": "14:23117304-23119616", "ensembl_id": "ENSG00000092067" } } }, "hgnc_date_symbol_changed": "1992-06-24" }, "entity_type": "gene", "entity_name": "CEBPE", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "PMID: 31201888" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Immunodeficiency 108 with autoinflammation , MIM#\t260570" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SSAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10540", "gene_name": "spermidine/spermine N1-acetyltransferase 1", "omim_gene": [ "313020" ], "alias_name": [ "diamine N-acetyltransferase 1" ], "gene_symbol": "SAT1", "hgnc_symbol": "SAT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:23801290-23804343", "ensembl_id": "ENSG00000130066" } }, "GRch38": { "90": { "location": "X:23783173-23786226", "ensembl_id": "ENSG00000130066" } } }, "hgnc_date_symbol_changed": "2006-08-24" }, "entity_type": "gene", "entity_name": "SAT1", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "25977808" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Systemic lupus erythematosus, MONDO:0007915, SAT1-related" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 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"victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DNAS1L3", "LSD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2959", "gene_name": "deoxyribonuclease 1 like 3", "omim_gene": [ "602244" ], "alias_name": [ "DNase gamma" ], "gene_symbol": "DNASE1L3", "hgnc_symbol": "DNASE1L3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:58177984-58200424", "ensembl_id": "ENSG00000163687" } }, "GRch38": { "90": { "location": "3:58192257-58214697", "ensembl_id": "ENSG00000163687" } } }, "hgnc_date_symbol_changed": "1997-05-15" }, "entity_type": "gene", "entity_name": "DNASE1L3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22019780", "30008451" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Systemic lupus erythematosus 16, MIM#\t614420" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona 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"607575" ], "alias_name": null, "gene_symbol": "ADA2", "hgnc_symbol": "ADA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:17660194-17702879", "ensembl_id": "ENSG00000093072" } }, "GRch38": { "90": { "location": "22:17178790-17221989", "ensembl_id": "ENSG00000093072" } } }, "hgnc_date_symbol_changed": "2017-02-16" }, "entity_type": "gene", "entity_name": "ADA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24552284", "24552285", "33791889", "40864493" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "cSVP", "CD156B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:195", "gene_name": "ADAM metallopeptidase domain 17", "omim_gene": [ "603639" ], "alias_name": null, "gene_symbol": "ADAM17", "hgnc_symbol": "ADAM17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:9628615-9695921", "ensembl_id": "ENSG00000151694" } }, "GRch38": { "90": { "location": "2:9488486-9555792", "ensembl_id": "ENSG00000151694" } } }, "hgnc_date_symbol_changed": "1997-04-10" }, "entity_type": "gene", "entity_name": "ADAM17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22010916", "29560122", "26683521", "25804906" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328", "Recurrent infections" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:18971", "gene_name": "adaptor related protein complex 1 sigma 3 subunit", "omim_gene": [ "615781" ], "alias_name": null, "gene_symbol": "AP1S3", "hgnc_symbol": "AP1S3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:224616403-224702744", "ensembl_id": "ENSG00000152056" } }, "GRch38": { "90": { "location": "2:223751686-223838027", "ensembl_id": "ENSG00000152056" } } }, "hgnc_date_symbol_changed": "2002-12-17" }, "entity_type": "gene", "entity_name": "AP1S3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24791904", "27388993" ], "evidence": [ "Expert Review Amber", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Psoriasis 15, pustular, susceptibility to} 616106" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical 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"hgnc_date_symbol_changed": "2002-09-19" }, "entity_type": "gene", "entity_name": "CARD14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34118208", "31286971", "30783801" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Psoriasis 2, MIM# 602723" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of 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"gene_data": { "alias": [ "HEP-COP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2230", "gene_name": "coatomer protein complex subunit alpha", "omim_gene": [ "601924" ], "alias_name": [ "proxenin", "xenin" ], "gene_symbol": "COPA", "hgnc_symbol": "COPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:160259063-160313190", "ensembl_id": "ENSG00000122218" } }, "GRch38": { "90": { "location": "1:160289273-160343400", "ensembl_id": "ENSG00000122218" } } }, "hgnc_date_symbol_changed": "1996-11-15" }, "entity_type": "gene", "entity_name": "COPA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31455335", "30804679" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Autoimmune interstitial lung, joint, and kidney disease, MIM 616414" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, 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"name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NE", "HNE", "HLE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3309", "gene_name": "elastase, neutrophil expressed", "omim_gene": [ "130130" ], "alias_name": [ "neutrophil elastase", "leukocyte elastase", "medullasin" ], "gene_symbol": "ELANE", "hgnc_symbol": "ELANE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:851014-856242", "ensembl_id": "ENSG00000197561" } }, "GRch38": { "90": { "location": 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"BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0249" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14450", "gene_name": "lipin 2", "omim_gene": [ "605519" ], "alias_name": null, "gene_symbol": "LPIN2", "hgnc_symbol": "LPIN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:2916992-3013313", "ensembl_id": "ENSG00000101577" } }, "GRch38": { "90": { "location": "18:2916994-3013315", 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"2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LRBP", "MK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7530", "gene_name": "mevalonate kinase", "omim_gene": [ "251170" ], "alias_name": [ "LH receptor mRNA-binding protein", "mevalonic aciduria" ], "gene_symbol": "MVK", 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"Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772", "CINCA syndrome, MIM#12032915 607115" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BLAU", "CD", "PSORAS1", "CLR16.3", "NLRC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5331", "gene_name": "nucleotide binding oligomerization domain containing 2", "omim_gene": [ "605956" ], "alias_name": [ "nucleotide-binding 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"number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ34884" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25118", "gene_name": "OTU deubiquitinase with linear linkage specificity", "omim_gene": [ "615712" ], "alias_name": [ "gumby" ], "gene_symbol": "OTULIN", "hgnc_symbol": "OTULIN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:14664773-14699820", "ensembl_id": "ENSG00000154124" } }, "GRch38": { "90": { "location": "5:14664664-14699711", "ensembl_id": "ENSG00000154124" } } }, "hgnc_date_symbol_changed": "2014-03-11" }, "entity_type": "gene", "entity_name": "OTULIN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27523608", "27559085", "38630025", "38652464", "38129331" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030", "Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic 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"2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HC8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9532", "gene_name": "proteasome subunit alpha 3", "omim_gene": [ "176843" ], "alias_name": null, "gene_symbol": "PSMA3", "hgnc_symbol": "PSMA3", 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following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HN3", "PROS26" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9541", "gene_name": "proteasome subunit beta 4", "omim_gene": [ "602177" ], "alias_name": null, "gene_symbol": "PSMB4", "hgnc_symbol": "PSMB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:151372010-151374420", "ensembl_id": "ENSG00000159377" } }, "GRch38": { "90": { "location": "1:151399534-151401944", "ensembl_id": "ENSG00000159377" } } }, "hgnc_date_symbol_changed": "1995-05-03" }, "entity_type": "gene", "entity_name": "PSMB4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26524591" ], "evidence": [ "Expert Review Amber", "Melbourne Genomics Health Alliance Immunology Flagship", 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"relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RING10", "D6S216E", "PSMB5i", "beta5i" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9545", "gene_name": "proteasome subunit beta 8", "omim_gene": [ "177046" ], "alias_name": null, "gene_symbol": "PSMB8", "hgnc_symbol": "PSMB8", "hgnc_release": "2017-11-03", 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panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": 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"publications": [ "26524591", "34819510" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591", "Proteasome-associated autoinflammatory syndrome 6, MIM# 620796" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PSTPIP", "CD2BP1L", "CD2BP1", "CD2BP1S", "H-PIP", "PAPAS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9580", "gene_name": "proline-serine-threonine phosphatase interacting protein 1", "omim_gene": [ "606347" ], "alias_name": [ "CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1" ], "gene_symbol": "PSTPIP1", "hgnc_symbol": "PSTPIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:77285700-77329673", "ensembl_id": "ENSG00000140368" } }, "GRch38": { "90": { "location": "15:76993359-77037332", "ensembl_id": "ENSG00000140368" } } }, "hgnc_date_symbol_changed": "1999-01-12" }, "entity_type": "gene", "entity_name": "PSTPIP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11971877", "34938582", "34778321", "34745107", "34492165", "34047005" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], 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Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RBCK2", "XAP4", "RNF54", "ZRANB4", "UBCE7IP3", "HOIL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15864", "gene_name": "RANBP2-type and C3HC4-type zinc finger containing 1", "omim_gene": [ "610924" ], "alias_name": [ "heme-oxidized IRP2 ubiquitin ligase 1" ], "gene_symbol": "RBCK1", "hgnc_symbol": "RBCK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:388142-411610", "ensembl_id": "ENSG00000125826" } }, "GRch38": { "90": { "location": "20:407498-430966", "ensembl_id": "ENSG00000125826" } } }, "hgnc_date_symbol_changed": "2006-06-28" }, "entity_type": "gene", "entity_name": "RBCK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29260357", "29695863" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895", "muscular weakness", "cardiomyopathy", "recurrent bacterial/viral infections", "autoinflammation", "immunodeficiency", "Poor antibody responses to polysaccharides", "failure to thrive", "fever", "pneumonia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RES4-23", "CRBM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10825", "gene_name": "SH3 domain binding protein 2", "omim_gene": [ "602104" ], "alias_name": null, "gene_symbol": "SH3BP2", "hgnc_symbol": "SH3BP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:2794750-2842825", "ensembl_id": "ENSG00000087266" } }, "GRch38": { "90": { "location": "4:2793023-2841098", "ensembl_id": "ENSG00000087266" } } }, "hgnc_date_symbol_changed": "1996-08-01" }, "entity_type": "gene", "entity_name": "SH3BP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "26152156", "25705883", "25470448", "25220465", "20301316" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cherubism, MIM# 118400" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the 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"relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "A20", "OTUD7C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11896", "gene_name": "TNF alpha induced protein 3", "omim_gene": [ "191163" ], "alias_name": null, "gene_symbol": "TNFAIP3", "hgnc_symbol": "TNFAIP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:138188351-138204449", "ensembl_id": "ENSG00000118503" } }, "GRch38": { "90": { "location": "6:137867188-137883312", "ensembl_id": "ENSG00000118503" } } }, "hgnc_date_symbol_changed": "1992-10-20" }, "entity_type": "gene", "entity_name": "TNFAIP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26642243" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting 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"description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD288" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15632", "gene_name": "toll like receptor 8", "omim_gene": [ "300366" ], "alias_name": null, "gene_symbol": "TLR8", "hgnc_symbol": "TLR8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:12924739-12941288", "ensembl_id": "ENSG00000101916" } }, "GRch38": { "90": { "location": "X:12906620-12923169", "ensembl_id": "ENSG00000101916" } } }, "hgnc_date_symbol_changed": "2001-04-27" }, "entity_type": "gene", "entity_name": "TLR8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34981838", "33512449" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoinflammatory syndrome MONDO:0019751, TLR8-associated" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GP130", "CD130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6021", "gene_name": "interleukin 6 signal transducer", "omim_gene": [ "600694" ], "alias_name": [ "gp130, oncostatin M receptor", "Interleukin-6 receptor subunit beta" ], "gene_symbol": "IL6ST", "hgnc_symbol": "IL6ST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:55230923-55290821", "ensembl_id": "ENSG00000134352" } }, "GRch38": { "90": { "location": "5:55935095-55994993", "ensembl_id": "ENSG00000134352" } } }, "hgnc_date_symbol_changed": "1991-08-12" }, "entity_type": "gene", "entity_name": "IL6ST", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33517393" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Immunodeficiency 94 with autoinflammation and dysmorphic facies \t619750" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ38973" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26799", "gene_name": "chromosome 2 open reading frame 69", "omim_gene": null, "alias_name": [ "hypothetical protein FLJ38973" ], "gene_symbol": "C2orf69", "hgnc_symbol": "C2orf69", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:200775979-200820658", "ensembl_id": "ENSG00000178074" } }, "GRch38": { "90": { "location": "2:199911256-199955935", "ensembl_id": "ENSG00000178074" } } }, "hgnc_date_symbol_changed": "2008-07-02" }, "entity_type": "gene", "entity_name": "C2orf69", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34038740", "33945503" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p16-Arc", "ARC16", "dJ127C7.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:708", "gene_name": "actin related protein 2/3 complex subunit 5", "omim_gene": [ "604227" ], "alias_name": [ "Arp2/3 protein complex subunit p16" ], "gene_symbol": "ARPC5", "hgnc_symbol": "ARPC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:183592401-183604892", "ensembl_id": "ENSG00000162704" } }, "GRch38": { "90": { "location": "1:183620846-183635757", "ensembl_id": "ENSG00000162704" } } }, "hgnc_date_symbol_changed": "1999-08-06" }, "entity_type": "gene", "entity_name": "ARPC5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37349293", "37382373" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects 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"number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZETA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9534", "gene_name": "proteasome subunit alpha 5", "omim_gene": [ "176844" ], "alias_name": null, "gene_symbol": "PSMA5", "hgnc_symbol": "PSMA5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:109941653-109969062", "ensembl_id": "ENSG00000143106" } }, "GRch38": { "90": { "location": "1:109399031-109426427", "ensembl_id": "ENSG00000143106" } } }, "hgnc_date_symbol_changed": "1995-05-03" }, "entity_type": "gene", "entity_name": "PSMA5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37600812" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Inborn error of immunity, MONDO:0003778, PSMA5-related", "PRAAS/CANDLE" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZIBRA", "FLJ10111", "FLJ23501", "HOIP", "Paul" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16031", "gene_name": "ring finger protein 31", "omim_gene": [ "612487" ], "alias_name": [ "HOIL-1-interacting protein" ], "gene_symbol": "RNF31", "hgnc_symbol": "RNF31", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:24615892-24629870", "ensembl_id": "ENSG00000092098" } }, "GRch38": { "90": { "location": "14:24146683-24160661", "ensembl_id": "ENSG00000092098" } } }, "hgnc_date_symbol_changed": "2003-09-29" }, "entity_type": "gene", "entity_name": "RNF31", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26008899", "30936877", "41026334", "39009172" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Immunodeficiency 115 with autoinflammation, MIM# 620632" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PMK", "PMKA", "HUMPMKI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9141", "gene_name": "phosphomevalonate kinase", "omim_gene": [ "607622" ], "alias_name": null, "gene_symbol": "PMVK", "hgnc_symbol": "PMVK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:154897210-154909467", "ensembl_id": "ENSG00000163344" } }, "GRch38": { "90": { "location": "1:154924734-154936991", "ensembl_id": "ENSG00000163344" } } }, "hgnc_date_symbol_changed": "1999-07-09" }, "entity_type": "gene", "entity_name": "PMVK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37364720", "36410683" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Autoinflammatory syndrome, MONDO:0019751, PMVK-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee 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"alias": [ "DKFZP434N1923", "SIPL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25321", "gene_name": "SHANK associated RH domain interactor", "omim_gene": [ "611885" ], "alias_name": null, "gene_symbol": "SHARPIN", "hgnc_symbol": "SHARPIN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145153536-145163027", "ensembl_id": "ENSG00000179526" } }, "GRch38": { "90": { "location": "8:144098633-144108124", "ensembl_id": "ENSG00000179526" } } }, "hgnc_date_symbol_changed": "2005-08-09" }, "entity_type": "gene", "entity_name": "SHARPIN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38609546" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoinflammation with episodic fever and immune dysregulation, MIM# 620795" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SECRET", "DJ501N12.8", "SEGN", "CALBL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16941", "gene_name": "secretagogin, EF-hand calcium binding protein", "omim_gene": [ "609202" ], "alias_name": [ "calbindin-like" ], "gene_symbol": "SCGN", "hgnc_symbol": "SCGN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:25652464-25702011", "ensembl_id": "ENSG00000079689" } }, "GRch38": { "90": { "location": "6:25652201-25701783", "ensembl_id": "ENSG00000079689" } } }, "hgnc_date_symbol_changed": "2002-05-23" }, "entity_type": "gene", "entity_name": "SCGN", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31663849" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "ulcerative colitis, MONDO:0005101" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth 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null, "gene_symbol": "SIRT1", "hgnc_symbol": "SIRT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:69644427-69678147", "ensembl_id": "ENSG00000096717" } }, "GRch38": { "90": { "location": "10:67884669-67918390", "ensembl_id": "ENSG00000096717" } } }, "hgnc_date_symbol_changed": "2001-03-20" }, "entity_type": "gene", "entity_name": "SIRT1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23473037" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "autoimmune disease, MONDO:0007179, SIRT1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "D2S1473", "CD121A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5993", "gene_name": "interleukin 1 receptor type 1", "omim_gene": [ "147810" ], "alias_name": [ "interleukin-1 receptor, type I" ], "gene_symbol": "IL1R1", "hgnc_symbol": "IL1R1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:102681004-102796334", "ensembl_id": "ENSG00000115594" } }, "GRch38": { "90": { "location": "2:102064544-102179874", "ensembl_id": "ENSG00000115594" } } }, "hgnc_date_symbol_changed": "1990-06-27" }, "entity_type": "gene", "entity_name": "IL1R1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37315560" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Chronic recurrent multifocal osteomyelitis 3, MIM#\t259680" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RIG-I", "FLJ13599", "DKFZp434J1111" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19102", "gene_name": "DExD/H-box helicase 58", "omim_gene": [ "609631" ], "alias_name": [ "RNA helicase RIG-I", "retinoic acid inducible gene I" ], "gene_symbol": "DDX58", "hgnc_symbol": "DDX58", "hgnc_release": "2017-11-03", 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"royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PTA", "PT-ALPHA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21290", "gene_name": "pre T-cell antigen receptor alpha", "omim_gene": [ "606817" ], "alias_name": null, "gene_symbol": "PTCRA", "hgnc_symbol": "PTCRA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:42883727-42893573", "ensembl_id": "ENSG00000171611" } }, "GRch38": { "90": { "location": "6:42915989-42925835", "ensembl_id": "ENSG00000171611" } } }, "hgnc_date_symbol_changed": "2003-06-02" }, "entity_type": "gene", "entity_name": "PTCRA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38422122" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Immunodeficiency 126, MIM# 620931" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { 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Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AAT", "A1A", "PI1", "alpha-1-antitrypsin", "A1AT", "alpha1AT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8941", "gene_name": "serpin family A member 1", "omim_gene": [ "107400" ], "alias_name": [ "protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin" ], "gene_symbol": "SERPINA1", "hgnc_symbol": "SERPINA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:94843084-94857030", "ensembl_id": "ENSG00000197249" } }, "GRch38": { "90": { "location": "14:94376747-94390693", "ensembl_id": "ENSG00000197249" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "SERPINA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33516773" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Emphysema-cirrhosis, due to AAT deficiency, MIM#\t613490" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity 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{ "alias": [ "NY-REN-64" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17967", "gene_name": "interleukin 1 receptor associated kinase 4", "omim_gene": [ "606883" ], "alias_name": null, "gene_symbol": "IRAK4", "hgnc_symbol": "IRAK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:44152747-44183346", "ensembl_id": "ENSG00000198001" } }, "GRch38": { "90": { "location": "12:43758944-43789543", "ensembl_id": "ENSG00000198001" } } }, "hgnc_date_symbol_changed": "2002-09-27" }, "entity_type": "gene", "entity_name": "IRAK4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37744344" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoinflammatory syndrome, MONDO:0019751, IRAK4-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological 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"name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p65" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9955", "gene_name": "RELA proto-oncogene, NF-kB subunit", "omim_gene": [ "164014" ], "alias_name": null, "gene_symbol": "RELA", "hgnc_symbol": "RELA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65421067-65430565", "ensembl_id": "ENSG00000173039" } }, "GRch38": { "90": { "location": "11:65653596-65663094", "ensembl_id": "ENSG00000173039" } } }, "hgnc_date_symbol_changed": "1991-11-14" }, "entity_type": "gene", "entity_name": "RELA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37273177" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mucocutaneous ulceration, chronic, MIM# 618287", "periodic fever, inflammatory bowel disease, JIA" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth 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HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JAK1A", "JTK3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6190", "gene_name": "Janus kinase 1", "omim_gene": [ "147795" ], "alias_name": null, "gene_symbol": "JAK1", "hgnc_symbol": "JAK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:65298912-65432187", 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"victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ21924" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26154", "gene_name": "glutamine and serine rich 1", "omim_gene": null, "alias_name": null, "gene_symbol": "QSER1", "hgnc_symbol": "QSER1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:32914724-33014862", "ensembl_id": "ENSG00000060749" } }, "GRch38": { "90": { "location": "11:32893178-32993316", "ensembl_id": "ENSG00000060749" } } }, "hgnc_date_symbol_changed": "2006-02-06" }, "entity_type": "gene", 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"description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD152", "CD", "GSE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2505", "gene_name": "cytotoxic T-lymphocyte associated protein 4", "omim_gene": [ "123890" ], "alias_name": null, "gene_symbol": "CTLA4", "hgnc_symbol": "CTLA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:204732509-204738683", "ensembl_id": "ENSG00000163599" } }, "GRch38": { "90": { "location": "2:203867786-203873960", "ensembl_id": "ENSG00000163599" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "CTLA4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, 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"2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3629", "gene_name": "farnesyl-diphosphate farnesyltransferase 1", "omim_gene": [ "184420" ], "alias_name": [ "squalene synthase" ], "gene_symbol": "FDFT1", "hgnc_symbol": "FDFT1", 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disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MPD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7529", "gene_name": "mevalonate diphosphate decarboxylase", "omim_gene": [ "603236" ], "alias_name": [ "mevalonate pyrophosphate decarboxylase", "diphosphomevalonate decarboxylase" ], "gene_symbol": "MVD", "hgnc_symbol": "MVD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:88718343-88729569", "ensembl_id": "ENSG00000167508" } }, "GRch38": { "90": { "location": "16:88651935-88663161", "ensembl_id": "ENSG00000167508" } } }, "hgnc_date_symbol_changed": "1997-12-05" }, "entity_type": "gene", "entity_name": "MVD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30942823", "33491095", "34135477" ], "evidence": [ "Expert list", "Expert Review 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"version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3631", "gene_name": "farnesyl diphosphate synthase", "omim_gene": [ "134629" ], "alias_name": [ "farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase" ], "gene_symbol": "FDPS", "hgnc_symbol": "FDPS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155278539-155290457", "ensembl_id": "ENSG00000160752" } }, "GRch38": { "90": { "location": "1:155308748-155320666", "ensembl_id": "ENSG00000160752" } } }, "hgnc_date_symbol_changed": "1992-03-13" }, "entity_type": "gene", "entity_name": "FDPS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26202976", "30561051", "38283795", "41240373" ], "evidence": [ "Literature", "Expert Review Green", "Expert Review Green", "Literature" ], "phenotypes": [ "porokeratosis 9, multiple types MONDO:0014713" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "B7-H", "B7H1", "PD-L1", "PDL1", "B7-H1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17635", "gene_name": "CD274 molecule", "omim_gene": [ "605402" ], "alias_name": [ "B7 homolog 1" ], "gene_symbol": "CD274", "hgnc_symbol": "CD274", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:5450503-5470566", "ensembl_id": "ENSG00000120217" } }, "GRch38": { "90": { "location": "9:5450503-5470566", "ensembl_id": "ENSG00000120217" } } }, "hgnc_date_symbol_changed": "2005-02-25" }, "entity_type": "gene", "entity_name": "CD274", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38634869" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10709" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25567", "gene_name": "ATPase family, AAA domain containing 3A", "omim_gene": [ "612316" ], "alias_name": null, "gene_symbol": "ATAD3A", "hgnc_symbol": "ATAD3A", 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"BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11491", "gene_name": "spleen associated tyrosine kinase", "omim_gene": [ "600085" ], "alias_name": null, "gene_symbol": "SYK", "hgnc_symbol": "SYK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:93564069-93660831", "ensembl_id": "ENSG00000165025" } }, "GRch38": { "90": { "location": "9:90801787-90898549", "ensembl_id": "ENSG00000165025" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "SYK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "33782605" ], "evidence": [ "Expert Review Green", "Expert list", "Literature" ], "phenotypes": [ "immunodeficiency 82 with systemic inflammation\tMONDO:0030308" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSMU1B", "mu2", "AP1-mu2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:558", "gene_name": "adaptor related protein complex 1 mu 2 subunit", "omim_gene": [ "607309" ], "alias_name": null, "gene_symbol": "AP1M2", "hgnc_symbol": "AP1M2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:10683347-10697991", "ensembl_id": "ENSG00000129354" } }, "GRch38": { "90": { "location": "19:10572671-10587315", "ensembl_id": "ENSG00000129354" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "AP1M2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41451456" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Inborn error of immunity, MONDO:0003778" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological 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"name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4862", "gene_name": "NCK associated protein 1 like", "omim_gene": [ "141180" ], "alias_name": null, "gene_symbol": "NCKAP1L", "hgnc_symbol": "NCKAP1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:54891495-54937726", "ensembl_id": "ENSG00000123338" } }, "GRch38": { "90": { "location": "12:54497711-54548238", "ensembl_id": "ENSG00000123338" } } }, "hgnc_date_symbol_changed": "2005-10-11" }, "entity_type": "gene", "entity_name": "NCKAP1L", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32647003" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "immunodeficiency 72 with autoinflammation\tMONDO:0033551" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and 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"alias_name": [ "receptor-interacting protein kinase 1" ], "gene_symbol": "RIPK1", "hgnc_symbol": "RIPK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:3064225-3115421", "ensembl_id": "ENSG00000137275" } }, "GRch38": { "90": { "location": "6:3063991-3115187", "ensembl_id": "ENSG00000137275" } } }, "hgnc_date_symbol_changed": "1999-05-07" }, "entity_type": "gene", "entity_name": "RIPK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "31827280", "31827281" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Literature" ], "phenotypes": [ "autoinflammation with episodic fever and lymphadenopathy MONDO:0030018" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] } ] }