Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=350
{ "count": 35514, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=351", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=349", "results": [ { "gene_data": { "alias": [ "POLE1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9177", "gene_name": "DNA polymerase epsilon, catalytic subunit", "omim_gene": [ "174762" ], "alias_name": [ "DNA polymerase epsilon catalytic subunit A" ], "gene_symbol": "POLE", "hgnc_symbol": "POLE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:133200348-133263951", "ensembl_id": "ENSG00000177084" } }, "GRch38": { "90": { "location": "12:132623753-132687365", "ensembl_id": "ENSG00000177084" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "POLE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287", "POLE-associated polyposis, MIM#615083" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9175", "gene_name": "DNA polymerase delta 1, catalytic subunit", "omim_gene": [ "174761" ], "alias_name": [ "CDC2 homolog (S. cerevisiae)" ], "gene_symbol": "POLD1", "hgnc_symbol": "POLD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50887461-50921273", "ensembl_id": "ENSG00000062822" } }, "GRch38": { "90": { "location": "19:50384204-50418018", "ensembl_id": "ENSG00000062822" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "POLD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351", "POLD1-associated polyposis, MIM#612591" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Ly74", "TROP1", "GA733-2", "EGP34", "EGP40", "EGP-2", "KSA", "CD326", "Ep-CAM", "HEA125", "KS1/4", "MK-1", "MH99", "MOC31", "323/A3", "17-1A", "TACST-1", "CO-17A", "ESA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11529", "gene_name": "epithelial cell adhesion molecule", "omim_gene": [ "185535" ], "alias_name": null, "gene_symbol": "EPCAM", "hgnc_symbol": "EPCAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47572297-47614740", "ensembl_id": "ENSG00000119888" } }, "GRch38": { "90": { "location": "2:47345158-47387601", "ensembl_id": "ENSG00000119888" } } }, "hgnc_date_symbol_changed": "2008-12-16" }, "entity_type": "gene", "entity_name": "EPCAM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Lynch syndrome 8, MONDO:0013196", "Lynch syndrome 8, MIM#613244" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HEX1", "hExoI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3511", "gene_name": "exonuclease 1", "omim_gene": [ "606063" ], "alias_name": [ "rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1" ], "gene_symbol": "EXO1", "hgnc_symbol": "EXO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:242011269-242058450", "ensembl_id": "ENSG00000174371" } }, "GRch38": { "90": { "location": "1:241847967-241895148", "ensembl_id": "ENSG00000174371" } } }, "hgnc_date_symbol_changed": "1999-07-07" }, "entity_type": "gene", "entity_name": "EXO1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "ClinGen" ], "phenotypes": [ "Lynch syndrome, MONDO:0005835" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ20315", "DKFZp781H0392", "URCC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18505", "gene_name": "ring finger protein 43", "omim_gene": [ "612482" ], "alias_name": null, "gene_symbol": "RNF43", "hgnc_symbol": "RNF43", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:56429861-56494956", "ensembl_id": "ENSG00000108375" } }, "GRch38": { "90": { "location": "17:58352500-58417595", "ensembl_id": "ENSG00000108375" } } }, "hgnc_date_symbol_changed": "2002-04-18" }, "entity_type": "gene", "entity_name": "RNF43", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 24512911, 34541672, 27329244, 27081527, 29330307" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review", "Expert list" ], "phenotypes": [ "Colorectal cancer, MONDO:0005575", "Polyposis, MONDO:0000147", "Sessile serrated polyposis cancer syndrome, MONDO:0014919", "Sessile serrated polyposis cancer syndrome, MIM#617108" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DRM", "gremlin", "DAND2", "HMPS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2001", "gene_name": "gremlin 1, DAN family BMP antagonist", "omim_gene": [ "603054" ], "alias_name": null, "gene_symbol": "GREM1", "hgnc_symbol": "GREM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:33010175-33026870", "ensembl_id": "ENSG00000166923" } }, "GRch38": { "90": { "location": "15:32717974-32745107", "ensembl_id": "ENSG00000166923" } } }, "hgnc_date_symbol_changed": "2004-05-07" }, "entity_type": "gene", "entity_name": "GREM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "PMID: 22561515, 25419707" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review", "Expert list" ], "phenotypes": [ "Colorectal cancer, MONDO:0005575", "Polyposis, MONDO:0000147", "Hereditary mixed polyposis syndrome, MONDO:0011023", "GREM1-associated polyposis, no MIM#" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ALK3", "CD292" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1076", "gene_name": "bone morphogenetic protein receptor type 1A", "omim_gene": [ "601299" ], "alias_name": null, "gene_symbol": "BMPR1A", "hgnc_symbol": "BMPR1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:88516407-88692595", "ensembl_id": "ENSG00000107779" } }, "GRch38": { "90": { "location": "10:86756601-86932838", "ensembl_id": "ENSG00000107779" } } }, "hgnc_date_symbol_changed": "1994-12-12" }, "entity_type": "gene", "entity_name": "BMPR1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Polyposis syndrome, hereditary mixed, 2, MONDO:0012405", "Polyposis, juvenile intestinal, MIM#174900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC126582", "DKFZp781B0869" ], "biotype": "protein_coding", "hgnc_id": "HGNC:904", "gene_name": "axin 2", "omim_gene": [ "604025" ], "alias_name": [ "conductin", "axil" ], "gene_symbol": "AXIN2", "hgnc_symbol": "AXIN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:63524681-63557765", "ensembl_id": "ENSG00000168646" } }, "GRch38": { "90": { "location": "17:65528563-65561647", "ensembl_id": "ENSG00000168646" } } }, "hgnc_date_symbol_changed": "1998-09-17" }, "entity_type": "gene", "entity_name": "AXIN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "AXIN2-related attenuated familial adenomatous polyposis, MONDO:0018426", "Oligodontia-cancer predisposition syndrome, MONDO:0012075", "Oligodontia-colorectal cancer syndrome, MIM#608615" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MYH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7527", "gene_name": "mutY DNA glycosylase", "omim_gene": [ "604933" ], "alias_name": null, "gene_symbol": "MUTYH", "hgnc_symbol": "MUTYH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45794835-45806142", "ensembl_id": "ENSG00000132781" } }, "GRch38": { "90": { "location": "1:45329163-45340470", "ensembl_id": "ENSG00000132781" } } }, "hgnc_date_symbol_changed": "1997-10-24" }, "entity_type": "gene", "entity_name": "MUTYH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Colorectal cancer, MONDO:0005575", "Polyposis, MONDO:0000147", "Familial adenomatous polyposis 2, MONDO:0012041", "Adenomas, multiple colorectal, MIM#608456" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DP2", "DP3", "DP2.5", "PPP1R46" ], "biotype": "protein_coding", "hgnc_id": "HGNC:583", "gene_name": "APC, WNT signaling pathway regulator", "omim_gene": [ "611731" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 46" ], "gene_symbol": "APC", "hgnc_symbol": "APC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:112043195-112181936", "ensembl_id": "ENSG00000134982" } }, "GRch38": { "90": { "location": "5:112707498-112846239", "ensembl_id": "ENSG00000134982" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "APC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "APC-related attenuated familial adenomatous polyposis, MONDO:0016613", "Classic familial adenomatous polyposis, MONDO:0021055", "Familial adenomatous polyposis 1, MONDO:0021056", "Adenomatous polyposis coli, MIM#175100" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "H_DJ0042M02.9", "HNPCC4", "MLH4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9122", "gene_name": "PMS1 homolog 2, mismatch repair system component", "omim_gene": [ "600259" ], "alias_name": null, "gene_symbol": "PMS2", "hgnc_symbol": "PMS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:6012870-6048756", "ensembl_id": "ENSG00000122512" } }, "GRch38": { "90": { "location": "7:5973239-6009125", "ensembl_id": "ENSG00000122512" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "PMS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Colorectal cancer, MONDO:0005575", "Polyposis, MONDO:0000147", "Lynch syndrome 4, MONDO:0013699", "Mismatch repair cancer syndrome 4, MONDO:0030843", "Lynch syndrome 4, MIM#614337", "Mismatch repair cancer syndrome 4, MIM#619101" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NTH1", "OCTS3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8028", "gene_name": "nth like DNA glycosylase 1", "omim_gene": [ "602656" ], "alias_name": null, "gene_symbol": "NTHL1", "hgnc_symbol": "NTHL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:2089816-2097867", "ensembl_id": "ENSG00000065057" } }, "GRch38": { "90": { "location": "16:2039815-2047866", "ensembl_id": "ENSG00000065057" } } }, "hgnc_date_symbol_changed": "1998-05-27" }, "entity_type": "gene", "entity_name": "NTHL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Colorectal cancer, MONDO:0005575", "Polyposis, MONDO:0000147", "NTHL1-deficiency tumor predisposition syndrome, MONDO:0100502", "Familial adenomatous polyposis 3, MIM#616415" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7329", "gene_name": "mutS homolog 6", "omim_gene": [ "600678" ], "alias_name": null, "gene_symbol": "MSH6", "hgnc_symbol": "MSH6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47922669-48037240", "ensembl_id": "ENSG00000116062" } }, "GRch38": { "90": { "location": "2:47695530-47810101", "ensembl_id": "ENSG00000116062" } } }, "hgnc_date_symbol_changed": "1995-08-29" }, "entity_type": "gene", "entity_name": "MSH6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Colorectal cancer, MONDO:0005575", "Polyposis, MONDO:0000147", "Lynch syndrome 5, MONDO:0013710", "Mismatch repair cancer syndrome 3, MONDO:0030841", "Lynch syndrome 5, MIM#614350", "Mismatch repair cancer syndrome 3, MIM#619097" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNPCC", "HNPCC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7325", "gene_name": "mutS homolog 2", "omim_gene": [ "609309" ], "alias_name": null, "gene_symbol": "MSH2", "hgnc_symbol": "MSH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47630108-47789450", "ensembl_id": "ENSG00000095002" } }, "GRch38": { "90": { "location": "2:47402969-47562311", "ensembl_id": "ENSG00000095002" } } }, "hgnc_date_symbol_changed": "1993-07-28" }, "entity_type": "gene", "entity_name": "MSH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Colorectal cancer, MONDO:0005575", "Polyposis, MONDO:0000147", "Lynch syndrome 1, MONDO:0007356", "Mismatch repair cancer syndrome 2, MONDO:0030840", "Lynch syndrome 1, MIM#120435", "Mismatch repair cancer syndrome 2, MIM#619096" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNPCC", "FCC2", "HNPCC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7127", "gene_name": "mutL homolog 1", "omim_gene": [ "120436" ], "alias_name": null, "gene_symbol": "MLH1", "hgnc_symbol": "MLH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:37034823-37107380", "ensembl_id": "ENSG00000076242" } }, "GRch38": { "90": { "location": "3:36993332-37050918", "ensembl_id": "ENSG00000076242" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "MLH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Colorectal cancer, MONDO:0005575", "Polyposis, MONDO:0000147", "Lynch syndrome 2, MONDO:0012249", "Mismatch repair cancer syndrome 1, MONDO:0010159", "Lynch syndrome 2, MIM#609310", "Mismatch repair cancer syndrome 1, MIM#276300" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MLH2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9121", "gene_name": "PMS1 homolog 1, mismatch repair system component", "omim_gene": [ "600258" ], "alias_name": null, "gene_symbol": "PMS1", "hgnc_symbol": "PMS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:190649107-190742355", "ensembl_id": "ENSG00000064933" } }, "GRch38": { "90": { "location": "2:189784085-189877629", "ensembl_id": "ENSG00000064933" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "PMS1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Lynch syndrome, MONDO:0005835" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SemB", "FLJ12287", "CORD10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10729", "gene_name": "semaphorin 4A", "omim_gene": [ "607292" ], "alias_name": null, "gene_symbol": "SEMA4A", "hgnc_symbol": "SEMA4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156117157-156147543", "ensembl_id": "ENSG00000196189" } }, "GRch38": { "90": { "location": "1:156147366-156177752", "ensembl_id": "ENSG00000196189" } } }, "hgnc_date_symbol_changed": "2004-04-22" }, "entity_type": "gene", "entity_name": "SEMA4A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Lynch syndrome, MONDO:0005835" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p53", "LFS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11998", "gene_name": "tumor protein p53", "omim_gene": [ "191170" ], "alias_name": [ "Li-Fraumeni syndrome" ], "gene_symbol": "TP53", "hgnc_symbol": "TP53", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7565097-7590856", "ensembl_id": "ENSG00000141510" } }, "GRch38": { "90": { "location": "17:7661779-7687550", "ensembl_id": "ENSG00000141510" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TP53", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Colorectal cancer, MONDO:0005575", "Polyposis, MONDO:0000147", "Li-Fraumeni syndrome, MONDO:0018875", "Li-Fraumeni syndrome, MIM#151623" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PJS", "LKB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11389", "gene_name": "serine/threonine kinase 11", "omim_gene": [ "602216" ], "alias_name": [ "polarization-related protein LKB1" ], "gene_symbol": "STK11", "hgnc_symbol": "STK11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:1189406-1228428", "ensembl_id": "ENSG00000118046" } }, "GRch38": { "90": { "location": "19:1177558-1228435", "ensembl_id": "ENSG00000118046" } } }, "hgnc_date_symbol_changed": "1998-01-21" }, "entity_type": "gene", "entity_name": "STK11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Peutz-Jeghers syndrome, MONDO:0008280", "Peutz-Jeghers syndrome, MIM#175200" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNPCC", "FCC2", "HNPCC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7127", "gene_name": "mutL homolog 1", "omim_gene": [ "120436" ], "alias_name": null, "gene_symbol": "MLH1", "hgnc_symbol": "MLH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:37034823-37107380", "ensembl_id": "ENSG00000076242" } }, "GRch38": { "90": { "location": "3:36993332-37050918", "ensembl_id": "ENSG00000076242" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "MLH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "Lynch syndrome 2, MONDO:0012249", "Mismatch repair cancer syndrome 1, MONDO:0010159", "Lynch syndrome 2, MIM#609310", "Mismatch repair cancer syndrome 1, MIM#276300" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNPCC", "HNPCC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7325", "gene_name": "mutS homolog 2", "omim_gene": [ "609309" ], "alias_name": null, "gene_symbol": "MSH2", "hgnc_symbol": "MSH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47630108-47789450", "ensembl_id": "ENSG00000095002" } }, "GRch38": { "90": { "location": "2:47402969-47562311", "ensembl_id": "ENSG00000095002" } } }, "hgnc_date_symbol_changed": "1993-07-28" }, "entity_type": "gene", "entity_name": "MSH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "Lynch syndrome 1, MONDO:0007356", "Mismatch repair cancer syndrome 2, MONDO:0030840", "Lynch syndrome 1, MIM#120435", "Mismatch repair cancer syndrome 2, MIM#619096" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7329", "gene_name": "mutS homolog 6", "omim_gene": [ "600678" ], "alias_name": null, "gene_symbol": "MSH6", "hgnc_symbol": "MSH6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47922669-48037240", "ensembl_id": "ENSG00000116062" } }, "GRch38": { "90": { "location": "2:47695530-47810101", "ensembl_id": "ENSG00000116062" } } }, "hgnc_date_symbol_changed": "1995-08-29" }, "entity_type": "gene", "entity_name": "MSH6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "Lynch syndrome 5, MONDO:0013710", "Mismatch repair cancer syndrome 3, MONDO:0030841", "Lynch syndrome 5, MIM#614350", "Mismatch repair cancer syndrome 3, MIM#619097" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "H_DJ0042M02.9", "HNPCC4", "MLH4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9122", "gene_name": "PMS1 homolog 2, mismatch repair system component", "omim_gene": [ "600259" ], "alias_name": null, "gene_symbol": "PMS2", "hgnc_symbol": "PMS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:6012870-6048756", "ensembl_id": "ENSG00000122512" } }, "GRch38": { "90": { "location": "7:5973239-6009125", "ensembl_id": "ENSG00000122512" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "PMS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "Lynch syndrome 4, MONDO:0013699", "Mismatch repair cancer syndrome 4, MONDO:0030843", "Lynch syndrome 4, MIM#614337", "Mismatch repair cancer syndrome 4, MIM#619101" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TEL1", "TELO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:795", "gene_name": "ATM serine/threonine kinase", "omim_gene": [ "607585" ], "alias_name": [ "TEL1, telomere maintenance 1, homolog (S. cerevisiae)" ], "gene_symbol": "ATM", "hgnc_symbol": "ATM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:108093211-108239829", "ensembl_id": "ENSG00000149311" } }, "GRch38": { "90": { "location": "11:108222484-108369102", "ensembl_id": "ENSG00000149311" } } }, "hgnc_date_symbol_changed": "1995-07-07" }, "entity_type": "gene", "entity_name": "ATM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "ATM-related cancer predisposition, MONDO:0700270", "Breast cancer, susceptibility to, MIM#114480" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RNF53", "BRCC1", "PPP1R53", "FANCS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1100", "gene_name": "BRCA1, DNA repair associated", "omim_gene": [ "113705" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53", "Fanconi anemia, complementation group S" ], "gene_symbol": "BRCA1", "hgnc_symbol": "BRCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:41196312-41277500", "ensembl_id": "ENSG00000012048" } }, "GRch38": { "90": { "location": "17:43044295-43170245", "ensembl_id": "ENSG00000012048" } } }, "hgnc_date_symbol_changed": "1991-02-20" }, "entity_type": "gene", "entity_name": "BRCA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "BRCA1-related cancer predisposition, MONDO:0700268", "Breast-ovarian cancer, familial, 1, MIM#604370" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FAD", "FAD1", "BRCC2", "XRCC11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1101", "gene_name": "BRCA2, DNA repair associated", "omim_gene": [ "600185" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 2" ], "gene_symbol": "BRCA2", "hgnc_symbol": "BRCA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:32889611-32973805", "ensembl_id": "ENSG00000139618" } }, "GRch38": { "90": { "location": "13:32315474-32400266", "ensembl_id": "ENSG00000139618" } } }, "hgnc_date_symbol_changed": "1994-10-17" }, "entity_type": "gene", "entity_name": "BRCA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "BRCA2-related cancer predisposition, MONDO:0700269", "Breast-ovarian cancer, familial, 2, MIM#612555" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Ly74", "TROP1", "GA733-2", "EGP34", "EGP40", "EGP-2", "KSA", "CD326", "Ep-CAM", "HEA125", "KS1/4", "MK-1", "MH99", "MOC31", "323/A3", "17-1A", "TACST-1", "CO-17A", "ESA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11529", "gene_name": "epithelial cell adhesion molecule", "omim_gene": [ "185535" ], "alias_name": null, "gene_symbol": "EPCAM", "hgnc_symbol": "EPCAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47572297-47614740", "ensembl_id": "ENSG00000119888" } }, "GRch38": { "90": { "location": "2:47345158-47387601", "ensembl_id": "ENSG00000119888" } } }, "hgnc_date_symbol_changed": "2008-12-16" }, "entity_type": "gene", "entity_name": "EPCAM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "Lynch syndrome 8, MONDO:0013196", "Lynch syndrome 8, MIM#613244" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ21816", "FANCN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26144", "gene_name": "partner and localizer of BRCA2", "omim_gene": [ "610355" ], "alias_name": [ "Fanconi anemia, complementation group N" ], "gene_symbol": "PALB2", "hgnc_symbol": "PALB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23614488-23652631", "ensembl_id": "ENSG00000083093" } }, "GRch38": { "90": { "location": "16:23603160-23641310", "ensembl_id": "ENSG00000083093" } } }, "hgnc_date_symbol_changed": "2007-01-15" }, "entity_type": "gene", "entity_name": "PALB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "PALB2-related cancer predisposition, MONDO:0700272", "Breast-ovarian cancer, familial, susceptibility to, 5, MIM#620442", "Pancreatic cancer, susceptibility to, 3, MIM#613348" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p53", "LFS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11998", "gene_name": "tumor protein p53", "omim_gene": [ "191170" ], "alias_name": [ "Li-Fraumeni syndrome" ], "gene_symbol": "TP53", "hgnc_symbol": "TP53", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7565097-7590856", "ensembl_id": "ENSG00000141510" } }, "GRch38": { "90": { "location": "17:7661779-7687550", "ensembl_id": "ENSG00000141510" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TP53", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "Li-Fraumeni syndrome, MONDO:0018875", "Li-Fraumeni syndrome, MIM#151623" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDS1", "CHK2", "HuCds1", "PP1425", "bA444G7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16627", "gene_name": "checkpoint kinase 2", "omim_gene": [ "604373" ], "alias_name": null, "gene_symbol": "CHEK2", "hgnc_symbol": "CHEK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29083731-29138410", "ensembl_id": "ENSG00000183765" } }, "GRch38": { "90": { "location": "22:28687743-28742422", "ensembl_id": "ENSG00000183765" } } }, "hgnc_date_symbol_changed": "2001-09-27" }, "entity_type": "gene", "entity_name": "CHEK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33322746, 36529447" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "CHEK2-related cancer predisposition, MONDO:0700271", "Breast/prostate cancer, susceptibility to, MIM#609265" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5112", "gene_name": "homeobox B13", "omim_gene": [ "604607" ], "alias_name": null, "gene_symbol": "HOXB13", "hgnc_symbol": "HOXB13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:46802125-46806540", "ensembl_id": "ENSG00000159184" } }, "GRch38": { "90": { "location": "17:48724763-48729178", "ensembl_id": "ENSG00000159184" } } }, "hgnc_date_symbol_changed": "1999-07-01" }, "entity_type": "gene", "entity_name": "HOXB13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 22236224, 30730552, 38766261" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "Prostate cancer, susceptibility to, MIM#610997" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNPCC", "FCC2", "HNPCC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7127", "gene_name": "mutL homolog 1", "omim_gene": [ "120436" ], "alias_name": null, "gene_symbol": "MLH1", "hgnc_symbol": "MLH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:37034823-37107380", "ensembl_id": "ENSG00000076242" } }, "GRch38": { "90": { "location": "3:36993332-37050918", "ensembl_id": "ENSG00000076242" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "MLH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Endometrial cancer, MONDO:0011962", "Lynch syndrome 2, MONDO:0012249", "Mismatch repair cancer syndrome 1, MONDO:0010159", "Lynch syndrome 2, MIM#609310", "Mismatch repair cancer syndrome 1, MIM#276300" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4373, "hash_id": null, "name": "Endometrial Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:28:51.012692+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 10, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNPCC", "HNPCC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7325", "gene_name": "mutS homolog 2", "omim_gene": [ "609309" ], "alias_name": null, "gene_symbol": "MSH2", "hgnc_symbol": "MSH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47630108-47789450", "ensembl_id": "ENSG00000095002" } }, "GRch38": { "90": { "location": "2:47402969-47562311", "ensembl_id": "ENSG00000095002" } } }, "hgnc_date_symbol_changed": "1993-07-28" }, "entity_type": "gene", "entity_name": "MSH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Endometrial cancer, MONDO:0011962", "Lynch syndrome 1, MONDO:0007356", "Mismatch repair cancer syndrome 2, MONDO:0030840", "Lynch syndrome 1, MIM#120435", "Mismatch repair cancer syndrome 2, MIM#619096" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4373, "hash_id": null, "name": "Endometrial Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:28:51.012692+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 10, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7329", "gene_name": "mutS homolog 6", "omim_gene": [ "600678" ], "alias_name": null, "gene_symbol": "MSH6", "hgnc_symbol": "MSH6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47922669-48037240", "ensembl_id": "ENSG00000116062" } }, "GRch38": { "90": { "location": "2:47695530-47810101", "ensembl_id": "ENSG00000116062" } } }, "hgnc_date_symbol_changed": "1995-08-29" }, "entity_type": "gene", "entity_name": "MSH6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Endometrial cancer, MONDO:0011962", "Lynch syndrome 5, MONDO:0013710", "Mismatch repair cancer syndrome 3, MONDO:0030841", "Lynch syndrome 5, MIM#614350", "Mismatch repair cancer syndrome 3, MIM#619097" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4373, "hash_id": null, "name": "Endometrial Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:28:51.012692+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 10, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "H_DJ0042M02.9", "HNPCC4", "MLH4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9122", "gene_name": "PMS1 homolog 2, mismatch repair system component", "omim_gene": [ "600259" ], "alias_name": null, "gene_symbol": "PMS2", "hgnc_symbol": "PMS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:6012870-6048756", "ensembl_id": "ENSG00000122512" } }, "GRch38": { "90": { "location": "7:5973239-6009125", "ensembl_id": "ENSG00000122512" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "PMS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Endometrial cancer, MONDO:0011962", "Lynch syndrome 4, MONDO:0013699", "Mismatch repair cancer syndrome 4, MONDO:0030843", "Lynch syndrome 4, MIM#614337", "Mismatch repair cancer syndrome 4, MIM#619101" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4373, "hash_id": null, "name": "Endometrial Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:28:51.012692+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 10, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RNF53", "BRCC1", "PPP1R53", "FANCS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1100", "gene_name": "BRCA1, DNA repair associated", "omim_gene": [ "113705" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53", "Fanconi anemia, complementation group S" ], "gene_symbol": "BRCA1", "hgnc_symbol": "BRCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:41196312-41277500", "ensembl_id": "ENSG00000012048" } }, "GRch38": { "90": { "location": "17:43044295-43170245", "ensembl_id": "ENSG00000012048" } } }, "hgnc_date_symbol_changed": "1991-02-20" }, "entity_type": "gene", "entity_name": "BRCA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Endometrial cancer, MONDO:0011962", "BRCA1-related cancer predisposition, MONDO:0700268", "Breast-ovarian cancer, familial, 1, MIM#604370" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4373, "hash_id": null, "name": "Endometrial Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:28:51.012692+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 10, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Ly74", "TROP1", "GA733-2", "EGP34", "EGP40", "EGP-2", "KSA", "CD326", "Ep-CAM", "HEA125", "KS1/4", "MK-1", "MH99", "MOC31", "323/A3", "17-1A", "TACST-1", "CO-17A", "ESA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11529", "gene_name": "epithelial cell adhesion molecule", "omim_gene": [ "185535" ], "alias_name": null, "gene_symbol": "EPCAM", "hgnc_symbol": "EPCAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47572297-47614740", "ensembl_id": "ENSG00000119888" } }, "GRch38": { "90": { "location": "2:47345158-47387601", "ensembl_id": "ENSG00000119888" } } }, "hgnc_date_symbol_changed": "2008-12-16" }, "entity_type": "gene", "entity_name": "EPCAM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Endometrial cancer, MONDO:0011962", "Lynch syndrome 8, MONDO:0013196", "Lynch syndrome 8, MIM#613244" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4373, "hash_id": null, "name": "Endometrial Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:28:51.012692+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 10, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "POLE1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9177", "gene_name": "DNA polymerase epsilon, catalytic subunit", "omim_gene": [ "174762" ], "alias_name": [ "DNA polymerase epsilon catalytic subunit A" ], "gene_symbol": "POLE", "hgnc_symbol": "POLE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:133200348-133263951", "ensembl_id": "ENSG00000177084" } }, "GRch38": { "90": { "location": "12:132623753-132687365", "ensembl_id": "ENSG00000177084" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "POLE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Endometrial cancer, MONDO:0011962", "POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287", "POLE-associated polyposis, MIM#615083" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4373, "hash_id": null, "name": "Endometrial Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:28:51.012692+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 10, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9175", "gene_name": "DNA polymerase delta 1, catalytic subunit", "omim_gene": [ "174761" ], "alias_name": [ "CDC2 homolog (S. cerevisiae)" ], "gene_symbol": "POLD1", "hgnc_symbol": "POLD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50887461-50921273", "ensembl_id": "ENSG00000062822" } }, "GRch38": { "90": { "location": "19:50384204-50418018", "ensembl_id": "ENSG00000062822" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "POLD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Endometrial cancer, MONDO:0011962", "POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351", "POLD1-associated polyposis, MIM#612591" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4373, "hash_id": null, "name": "Endometrial Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:28:51.012692+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 10, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MMAC1", "TEP1", "PTEN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9588", "gene_name": "phosphatase and tensin homolog", "omim_gene": [ "601728" ], "alias_name": [ "mutated in multiple advanced cancers 1" ], "gene_symbol": "PTEN", "hgnc_symbol": "PTEN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:89622870-89731687", "ensembl_id": "ENSG00000171862" } }, "GRch38": { "90": { "location": "10:87863113-87971930", "ensembl_id": "ENSG00000171862" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "PTEN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Endometrial cancer, MONDO:0011962", "PTEN hamartoma tumor syndrome, MONDO:0017623", "PTEN hamartoma tumour syndromes, MIM#158350" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4373, "hash_id": null, "name": "Endometrial Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:28:51.012692+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 10, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p53", "LFS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11998", "gene_name": "tumor protein p53", "omim_gene": [ "191170" ], "alias_name": [ "Li-Fraumeni syndrome" ], "gene_symbol": "TP53", "hgnc_symbol": "TP53", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7565097-7590856", "ensembl_id": "ENSG00000141510" } }, "GRch38": { "90": { "location": "17:7661779-7687550", "ensembl_id": "ENSG00000141510" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TP53", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Endometrial cancer, MONDO:0011962", "Li-Fraumeni syndrome, MONDO:0018875", "Li-Fraumeni syndrome, MIM#151623" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4373, "hash_id": null, "name": "Endometrial Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:28:51.012692+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 10, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "OF", "BACH1", "FANCJ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20473", "gene_name": "BRCA1 interacting protein C-terminal helicase 1", "omim_gene": [ "605882" ], "alias_name": [ "BRCA1/BRCA2-associated helicase 1" ], "gene_symbol": "BRIP1", "hgnc_symbol": "BRIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:59758627-59940882", "ensembl_id": "ENSG00000136492" } }, "GRch38": { "90": { "location": "17:61681266-61863521", "ensembl_id": "ENSG00000136492" } } }, "hgnc_date_symbol_changed": "2003-04-11" }, "entity_type": "gene", "entity_name": "BRIP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Ly74", "TROP1", "GA733-2", "EGP34", "EGP40", "EGP-2", "KSA", "CD326", "Ep-CAM", "HEA125", "KS1/4", "MK-1", "MH99", "MOC31", "323/A3", "17-1A", "TACST-1", "CO-17A", "ESA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11529", "gene_name": "epithelial cell adhesion molecule", "omim_gene": [ "185535" ], "alias_name": null, "gene_symbol": "EPCAM", "hgnc_symbol": "EPCAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47572297-47614740", "ensembl_id": "ENSG00000119888" } }, "GRch38": { "90": { "location": "2:47345158-47387601", "ensembl_id": "ENSG00000119888" } } }, "hgnc_date_symbol_changed": "2008-12-16" }, "entity_type": "gene", "entity_name": "EPCAM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170", "Lynch syndrome 8, MONDO:0013196", "Lynch syndrome 8, MIM#613244" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RAD51L2", "FANCO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9820", "gene_name": "RAD51 paralog C", "omim_gene": [ "602774" ], "alias_name": null, "gene_symbol": "RAD51C", "hgnc_symbol": "RAD51C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:56769934-56811703", "ensembl_id": "ENSG00000108384" } }, "GRch38": { "90": { "location": "17:58692573-58735611", "ensembl_id": "ENSG00000108384" } } }, "hgnc_date_symbol_changed": "1998-02-26" }, "entity_type": "gene", "entity_name": "RAD51C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170", "RAD51C-related cancer predisposition, MONDO:0700273", "Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253", "Breast-ovarian cancer, familial, susceptibility to, 3, MIM#613399" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "R51H3", "Trad", "HsTRAD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9823", "gene_name": "RAD51 paralog D", "omim_gene": [ "602954" ], "alias_name": [ "recombination repair protein", "DNA repair protein RAD51 homolog 4" ], "gene_symbol": "RAD51D", "hgnc_symbol": "RAD51D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:33426811-33448541", "ensembl_id": "ENSG00000185379" } }, "GRch38": { "90": { "location": "17:35092208-35121522", "ensembl_id": "ENSG00000185379" } } }, "hgnc_date_symbol_changed": "2011-07-01" }, "entity_type": "gene", "entity_name": "RAD51D", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170", "RAD51D-related cancer predisposition, MONDO:0700274", "Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669", "Breast-ovarian cancer, familial, susceptibility to, 4, MIM#614291" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MYH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7527", "gene_name": "mutY DNA glycosylase", "omim_gene": [ "604933" ], "alias_name": null, "gene_symbol": "MUTYH", "hgnc_symbol": "MUTYH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45794835-45806142", "ensembl_id": "ENSG00000132781" } }, "GRch38": { "90": { "location": "1:45329163-45340470", "ensembl_id": "ENSG00000132781" } } }, "hgnc_date_symbol_changed": "1997-10-24" }, "entity_type": "gene", "entity_name": "MUTYH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Familial ovarian cancer, MONDO:0016248" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "disputed" ], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDS1", "CHK2", "HuCds1", "PP1425", "bA444G7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16627", "gene_name": "checkpoint kinase 2", "omim_gene": [ "604373" ], "alias_name": null, "gene_symbol": "CHEK2", "hgnc_symbol": "CHEK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29083731-29138410", "ensembl_id": "ENSG00000183765" } }, "GRch38": { "90": { "location": "22:28687743-28742422", "ensembl_id": "ENSG00000183765" } } }, "hgnc_date_symbol_changed": "2001-09-27" }, "entity_type": "gene", "entity_name": "CHEK2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "ClinGen" ], "phenotypes": [ "Familial ovarian cancer, MONDO:0016248" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNPCC", "HNPCC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7325", "gene_name": "mutS homolog 2", "omim_gene": [ "609309" ], "alias_name": null, "gene_symbol": "MSH2", "hgnc_symbol": "MSH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47630108-47789450", "ensembl_id": "ENSG00000095002" } }, "GRch38": { "90": { "location": "2:47402969-47562311", "ensembl_id": "ENSG00000095002" } } }, "hgnc_date_symbol_changed": "1993-07-28" }, "entity_type": "gene", "entity_name": "MSH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170", "Lynch syndrome 1, MONDO:0007356", "Mismatch repair cancer syndrome 2, MONDO:0030840", "Lynch syndrome 1, MIM#120435", "Mismatch repair cancer syndrome 2, MIM#619096" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7329", "gene_name": "mutS homolog 6", "omim_gene": [ "600678" ], "alias_name": null, "gene_symbol": "MSH6", "hgnc_symbol": "MSH6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47922669-48037240", "ensembl_id": "ENSG00000116062" } }, "GRch38": { "90": { "location": "2:47695530-47810101", "ensembl_id": "ENSG00000116062" } } }, "hgnc_date_symbol_changed": "1995-08-29" }, "entity_type": "gene", "entity_name": "MSH6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170", "Lynch syndrome 5, MONDO:0013710", "Mismatch repair cancer syndrome 3, MONDO:0030841", "Lynch syndrome 5, MIM#614350", "Mismatch repair cancer syndrome 3, MIM#619097" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "H_DJ0042M02.9", "HNPCC4", "MLH4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9122", "gene_name": "PMS1 homolog 2, mismatch repair system component", "omim_gene": [ "600259" ], "alias_name": null, "gene_symbol": "PMS2", "hgnc_symbol": "PMS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:6012870-6048756", "ensembl_id": "ENSG00000122512" } }, "GRch38": { "90": { "location": "7:5973239-6009125", "ensembl_id": "ENSG00000122512" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "PMS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170", "Lynch syndrome 4, MONDO:0013699", "Mismatch repair cancer syndrome 4, MONDO:0030843", "Lynch syndrome 4, MIM#614337", "Mismatch repair cancer syndrome 4, MIM#619101" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FAD", "FAD1", "BRCC2", "XRCC11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1101", "gene_name": "BRCA2, DNA repair associated", "omim_gene": [ "600185" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 2" ], "gene_symbol": "BRCA2", "hgnc_symbol": "BRCA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:32889611-32973805", "ensembl_id": "ENSG00000139618" } }, "GRch38": { "90": { "location": "13:32315474-32400266", "ensembl_id": "ENSG00000139618" } } }, "hgnc_date_symbol_changed": "1994-10-17" }, "entity_type": "gene", "entity_name": "BRCA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170", "BRCA2-related cancer predisposition, MONDO:0700269", "Breast-ovarian cancer, familial, 2, MIM#612555" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RNF53", "BRCC1", "PPP1R53", "FANCS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1100", "gene_name": "BRCA1, DNA repair associated", "omim_gene": [ "113705" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53", "Fanconi anemia, complementation group S" ], "gene_symbol": "BRCA1", "hgnc_symbol": "BRCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:41196312-41277500", "ensembl_id": "ENSG00000012048" } }, "GRch38": { "90": { "location": "17:43044295-43170245", "ensembl_id": "ENSG00000012048" } } }, "hgnc_date_symbol_changed": "1991-02-20" }, "entity_type": "gene", "entity_name": "BRCA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170", "BRCA1-related cancer predisposition, MONDO:0700268", "Breast-ovarian cancer, familial, 1, MIM#604370" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p53", "LFS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11998", "gene_name": "tumor protein p53", "omim_gene": [ "191170" ], "alias_name": [ "Li-Fraumeni syndrome" ], "gene_symbol": "TP53", "hgnc_symbol": "TP53", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7565097-7590856", "ensembl_id": "ENSG00000141510" } }, "GRch38": { "90": { "location": "17:7661779-7687550", "ensembl_id": "ENSG00000141510" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TP53", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170", "Li-Fraumeni syndrome, MONDO:0018875", "Li-Fraumeni syndrome, MIM#151623" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hRad50", "RAD50-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9816", "gene_name": "RAD50 double strand break repair protein", "omim_gene": [ "604040" ], "alias_name": null, "gene_symbol": "RAD50", "hgnc_symbol": "RAD50", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:131891711-131980313", "ensembl_id": "ENSG00000113522" } }, "GRch38": { "90": { "location": "5:132556019-132646344", "ensembl_id": "ENSG00000113522" } } }, "hgnc_date_symbol_changed": "1999-07-23" }, "entity_type": "gene", "entity_name": "RAD50", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Familial ovarian cancer, MONDO:0016248" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNPCC", "FCC2", "HNPCC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7127", "gene_name": "mutL homolog 1", "omim_gene": [ "120436" ], "alias_name": null, "gene_symbol": "MLH1", "hgnc_symbol": "MLH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:37034823-37107380", "ensembl_id": "ENSG00000076242" } }, "GRch38": { "90": { "location": "3:36993332-37050918", "ensembl_id": "ENSG00000076242" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "MLH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170", "Lynch syndrome 2, MONDO:0012249", "Mismatch repair cancer syndrome 1, MONDO:0010159", "Lynch syndrome 2, MIM#609310", "Mismatch repair cancer syndrome 1, MIM#276300" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ21816", "FANCN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26144", "gene_name": "partner and localizer of BRCA2", "omim_gene": [ "610355" ], "alias_name": [ "Fanconi anemia, complementation group N" ], "gene_symbol": "PALB2", "hgnc_symbol": "PALB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23614488-23652631", "ensembl_id": "ENSG00000083093" } }, "GRch38": { "90": { "location": "16:23603160-23641310", "ensembl_id": "ENSG00000083093" } } }, "hgnc_date_symbol_changed": "2007-01-15" }, "entity_type": "gene", "entity_name": "PALB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Ovarian cancer, MONDO:0008170", "PALB2-related cancer predisposition, MONDO:0700272", "Breast-ovarian cancer, familial, susceptibility to, 5, MIM#620442", "Pancreatic cancer, susceptibility to, 3, MIM#613348" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:952", "gene_name": "BRCA1 associated RING domain 1", "omim_gene": [ "601593" ], "alias_name": null, "gene_symbol": "BARD1", "hgnc_symbol": "BARD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:215590370-215674428", "ensembl_id": "ENSG00000138376" } }, "GRch38": { "90": { "location": "2:214725646-214809711", "ensembl_id": "ENSG00000138376" } } }, "hgnc_date_symbol_changed": "1998-08-05" }, "entity_type": "gene", "entity_name": "BARD1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Familial ovarian cancer, MONDO:0016248" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ATLD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7230", "gene_name": "MRE11 homolog, double strand break repair nuclease", "omim_gene": [ "600814" ], "alias_name": [ "AT-like disease" ], "gene_symbol": "MRE11", "hgnc_symbol": "MRE11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:94152895-94227074", "ensembl_id": "ENSG00000020922" } }, "GRch38": { "90": { "location": "11:94415578-94493908", "ensembl_id": "ENSG00000020922" } } }, "hgnc_date_symbol_changed": "2016-09-30" }, "entity_type": "gene", "entity_name": "MRE11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Familial ovarian cancer, MONDO:0016248" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4374, "hash_id": null, "name": "Ovarian Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.6", "version_created": "2025-11-20T12:29:37.870224+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PJS", "LKB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11389", "gene_name": "serine/threonine kinase 11", "omim_gene": [ "602216" ], "alias_name": [ "polarization-related protein LKB1" ], "gene_symbol": "STK11", "hgnc_symbol": "STK11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:1189406-1228428", "ensembl_id": "ENSG00000118046" } }, "GRch38": { "90": { "location": "19:1177558-1228435", "ensembl_id": "ENSG00000118046" } } }, "hgnc_date_symbol_changed": "1998-01-21" }, "entity_type": "gene", "entity_name": "STK11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "Peutz-Jeghers syndrome, MONDO:0008280", "Peutz-Jeghers syndrome, MIM#175200" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "OF", "BACH1", "FANCJ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20473", "gene_name": "BRCA1 interacting protein C-terminal helicase 1", "omim_gene": [ "605882" ], "alias_name": [ "BRCA1/BRCA2-associated helicase 1" ], "gene_symbol": "BRIP1", "hgnc_symbol": "BRIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:59758627-59940882", "ensembl_id": "ENSG00000136492" } }, "GRch38": { "90": { "location": "17:61681266-61863521", "ensembl_id": "ENSG00000136492" } } }, "hgnc_date_symbol_changed": "2003-04-11" }, "entity_type": "gene", "entity_name": "BRIP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Ly74", "TROP1", "GA733-2", "EGP34", "EGP40", "EGP-2", "KSA", "CD326", "Ep-CAM", "HEA125", "KS1/4", "MK-1", "MH99", "MOC31", "323/A3", "17-1A", "TACST-1", "CO-17A", "ESA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11529", "gene_name": "epithelial cell adhesion molecule", "omim_gene": [ "185535" ], "alias_name": null, "gene_symbol": "EPCAM", "hgnc_symbol": "EPCAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47572297-47614740", "ensembl_id": "ENSG00000119888" } }, "GRch38": { "90": { "location": "2:47345158-47387601", "ensembl_id": "ENSG00000119888" } } }, "hgnc_date_symbol_changed": "2008-12-16" }, "entity_type": "gene", "entity_name": "EPCAM", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ40869", "Gen" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26881", "gene_name": "GEN1, Holliday junction 5' flap endonuclease", "omim_gene": [ "612449" ], "alias_name": [ "Holliday junction resolvase" ], "gene_symbol": "GEN1", "hgnc_symbol": "GEN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:17935125-17966632", "ensembl_id": "ENSG00000178295" } }, "GRch38": { "90": { "location": "2:17753858-17788941", "ensembl_id": "ENSG00000178295" } } }, "hgnc_date_symbol_changed": "2007-11-14" }, "entity_type": "gene", "entity_name": "GEN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNPCC", "FCC2", "HNPCC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7127", "gene_name": "mutL homolog 1", "omim_gene": [ "120436" ], "alias_name": null, "gene_symbol": "MLH1", "hgnc_symbol": "MLH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:37034823-37107380", "ensembl_id": "ENSG00000076242" } }, "GRch38": { "90": { "location": "3:36993332-37050918", "ensembl_id": "ENSG00000076242" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "MLH1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ATLD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7230", "gene_name": "MRE11 homolog, double strand break repair nuclease", "omim_gene": [ "600814" ], "alias_name": [ "AT-like disease" ], "gene_symbol": "MRE11", "hgnc_symbol": "MRE11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:94152895-94227074", "ensembl_id": "ENSG00000020922" } }, "GRch38": { "90": { "location": "11:94415578-94493908", "ensembl_id": "ENSG00000020922" } } }, "hgnc_date_symbol_changed": "2016-09-30" }, "entity_type": "gene", "entity_name": "MRE11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNPCC", "HNPCC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7325", "gene_name": "mutS homolog 2", "omim_gene": [ "609309" ], "alias_name": null, "gene_symbol": "MSH2", "hgnc_symbol": "MSH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47630108-47789450", "ensembl_id": "ENSG00000095002" } }, "GRch38": { "90": { "location": "2:47402969-47562311", "ensembl_id": "ENSG00000095002" } } }, "hgnc_date_symbol_changed": "1993-07-28" }, "entity_type": "gene", "entity_name": "MSH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MYH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7527", "gene_name": "mutY DNA glycosylase", "omim_gene": [ "604933" ], "alias_name": null, "gene_symbol": "MUTYH", "hgnc_symbol": "MUTYH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45794835-45806142", "ensembl_id": "ENSG00000132781" } }, "GRch38": { "90": { "location": "1:45329163-45340470", "ensembl_id": "ENSG00000132781" } } }, "hgnc_date_symbol_changed": "1997-10-24" }, "entity_type": "gene", "entity_name": "MUTYH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "refuted", "disputed" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ATV", "AT-V2", "AT-V1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7652", "gene_name": "nibrin", "omim_gene": [ "602667" ], "alias_name": null, "gene_symbol": "NBN", "hgnc_symbol": "NBN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:90945564-91015456", "ensembl_id": "ENSG00000104320" } }, "GRch38": { "90": { "location": "8:89933336-90003228", "ensembl_id": "ENSG00000104320" } } }, "hgnc_date_symbol_changed": "2005-06-02" }, "entity_type": "gene", "entity_name": "NBN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PI3K" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8975", "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha", "omim_gene": [ "171834" ], "alias_name": null, "gene_symbol": "PIK3CA", "hgnc_symbol": "PIK3CA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:178865902-178957881", "ensembl_id": "ENSG00000121879" } }, "GRch38": { "90": { "location": "3:179148114-179240093", "ensembl_id": "ENSG00000121879" } } }, "hgnc_date_symbol_changed": "1994-07-15" }, "entity_type": "gene", "entity_name": "PIK3CA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hRad50", "RAD50-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9816", "gene_name": "RAD50 double strand break repair protein", "omim_gene": [ "604040" ], "alias_name": null, "gene_symbol": "RAD50", "hgnc_symbol": "RAD50", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:131891711-131980313", "ensembl_id": "ENSG00000113522" } }, "GRch38": { "90": { "location": "5:132556019-132646344", "ensembl_id": "ENSG00000113522" } } }, "hgnc_date_symbol_changed": "1999-07-23" }, "entity_type": "gene", "entity_name": "RAD50", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ11785", "RINT-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21876", "gene_name": "RAD50 interactor 1", "omim_gene": [ "610089" ], "alias_name": null, "gene_symbol": "RINT1", "hgnc_symbol": "RINT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:105172532-105208124", "ensembl_id": "ENSG00000135249" } }, "GRch38": { "90": { "location": "7:105532085-105567677", "ensembl_id": "ENSG00000135249" } } }, "hgnc_date_symbol_changed": "2006-03-02" }, "entity_type": "gene", "entity_name": "RINT1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1784", "KIAA1987", "FANCP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23845", "gene_name": "SLX4 structure-specific endonuclease subunit", "omim_gene": [ "613278" ], "alias_name": [ "Fanconi anemia, complementation group P" ], "gene_symbol": "SLX4", "hgnc_symbol": "SLX4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:3631182-3661599", "ensembl_id": "ENSG00000188827" } }, "GRch38": { "90": { "location": "16:3581181-3611598", "ensembl_id": "ENSG00000188827" } } }, "hgnc_date_symbol_changed": "2010-09-13" }, "entity_type": "gene", "entity_name": "SLX4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FANCU" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12829", "gene_name": "X-ray repair cross complementing 2", "omim_gene": [ "600375" ], "alias_name": [ "RAD51-like" ], "gene_symbol": "XRCC2", "hgnc_symbol": "XRCC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:152341864-152373250", "ensembl_id": "ENSG00000196584" } }, "GRch38": { "90": { "location": "7:152644779-152676165", "ensembl_id": "ENSG00000196584" } } }, "hgnc_date_symbol_changed": "1995-02-07" }, "entity_type": "gene", "entity_name": "XRCC2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7329", "gene_name": "mutS homolog 6", "omim_gene": [ "600678" ], "alias_name": null, "gene_symbol": "MSH6", "hgnc_symbol": "MSH6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47922669-48037240", "ensembl_id": "ENSG00000116062" } }, "GRch38": { "90": { "location": "2:47695530-47810101", "ensembl_id": "ENSG00000116062" } } }, "hgnc_date_symbol_changed": "1995-08-29" }, "entity_type": "gene", "entity_name": "MSH6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "H_DJ0042M02.9", "HNPCC4", "MLH4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9122", "gene_name": "PMS1 homolog 2, mismatch repair system component", "omim_gene": [ "600259" ], "alias_name": null, "gene_symbol": "PMS2", "hgnc_symbol": "PMS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:6012870-6048756", "ensembl_id": "ENSG00000122512" } }, "GRch38": { "90": { "location": "7:5973239-6009125", "ensembl_id": "ENSG00000122512" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "PMS2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RecQ1", "RecQL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9948", "gene_name": "RecQ like helicase", "omim_gene": [ "600537" ], "alias_name": [ "DNA helicase Q1-like" ], "gene_symbol": "RECQL", "hgnc_symbol": "RECQL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:21621845-21654603", "ensembl_id": "ENSG00000004700" } }, "GRch38": { "90": { "location": "12:21468911-21501669", "ensembl_id": "ENSG00000004700" } } }, "hgnc_date_symbol_changed": "2014-03-07" }, "entity_type": "gene", "entity_name": "RECQL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hereditary breast carcinoma, MONDO:0016419" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDS1", "CHK2", "HuCds1", "PP1425", "bA444G7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16627", "gene_name": "checkpoint kinase 2", "omim_gene": [ "604373" ], "alias_name": null, "gene_symbol": "CHEK2", "hgnc_symbol": "CHEK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29083731-29138410", "ensembl_id": "ENSG00000183765" } }, "GRch38": { "90": { "location": "22:28687743-28742422", "ensembl_id": "ENSG00000183765" } } }, "hgnc_date_symbol_changed": "2001-09-27" }, "entity_type": "gene", "entity_name": "CHEK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33322746, 36529447" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "CHEK2-related cancer predisposition, MONDO:0700271", "Breast/prostate cancer, susceptibility to, MIM#609265" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TEL1", "TELO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:795", "gene_name": "ATM serine/threonine kinase", "omim_gene": [ "607585" ], "alias_name": [ "TEL1, telomere maintenance 1, homolog (S. cerevisiae)" ], "gene_symbol": "ATM", "hgnc_symbol": "ATM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:108093211-108239829", "ensembl_id": "ENSG00000149311" } }, "GRch38": { "90": { "location": "11:108222484-108369102", "ensembl_id": "ENSG00000149311" } } }, "hgnc_date_symbol_changed": "1995-07-07" }, "entity_type": "gene", "entity_name": "ATM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "ATM-related cancer predisposition, MONDO:0700270", "Breast cancer, susceptibility to, MIM#114480" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RNF53", "BRCC1", "PPP1R53", "FANCS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1100", "gene_name": "BRCA1, DNA repair associated", "omim_gene": [ "113705" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53", "Fanconi anemia, complementation group S" ], "gene_symbol": "BRCA1", "hgnc_symbol": "BRCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:41196312-41277500", "ensembl_id": "ENSG00000012048" } }, "GRch38": { "90": { "location": "17:43044295-43170245", "ensembl_id": "ENSG00000012048" } } }, "hgnc_date_symbol_changed": "1991-02-20" }, "entity_type": "gene", "entity_name": "BRCA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "BRCA1-related cancer predisposition, MONDO:0700268", "Breast-ovarian cancer, familial, 1, MIM#604370" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FAD", "FAD1", "BRCC2", "XRCC11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1101", "gene_name": "BRCA2, DNA repair associated", "omim_gene": [ "600185" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 2" ], "gene_symbol": "BRCA2", "hgnc_symbol": "BRCA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:32889611-32973805", "ensembl_id": "ENSG00000139618" } }, "GRch38": { "90": { "location": "13:32315474-32400266", "ensembl_id": "ENSG00000139618" } } }, "hgnc_date_symbol_changed": "1994-10-17" }, "entity_type": "gene", "entity_name": "BRCA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "BRCA2-related cancer predisposition, MONDO:0700269", "Breast-ovarian cancer, familial, 2, MIM#612555" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "uvomorulin", "CD324" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1748", "gene_name": "cadherin 1", "omim_gene": [ "192090" ], "alias_name": [ "E-Cadherin" ], "gene_symbol": "CDH1", "hgnc_symbol": "CDH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:68771128-68869451", "ensembl_id": "ENSG00000039068" } }, "GRch38": { "90": { "location": "16:68737225-68835548", "ensembl_id": "ENSG00000039068" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CDH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "CDH1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100488", "Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, MIM#137215" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7765", "gene_name": "neurofibromin 1", "omim_gene": [ "613113" ], "alias_name": [ "neurofibromatosis", "von Recklinghausen disease", "Watson disease" ], "gene_symbol": "NF1", "hgnc_symbol": "NF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:29421945-29709134", "ensembl_id": "ENSG00000196712" } }, "GRch38": { "90": { "location": "17:31094927-31382116", "ensembl_id": "ENSG00000196712" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "NF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "Neurofibromatosis type 1, MONDO:0018975", "Neurofibromatosis, type 1, MIM#162200" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ21816", "FANCN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26144", "gene_name": "partner and localizer of BRCA2", "omim_gene": [ "610355" ], "alias_name": [ "Fanconi anemia, complementation group N" ], "gene_symbol": "PALB2", "hgnc_symbol": "PALB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23614488-23652631", "ensembl_id": "ENSG00000083093" } }, "GRch38": { "90": { "location": "16:23603160-23641310", "ensembl_id": "ENSG00000083093" } } }, "hgnc_date_symbol_changed": "2007-01-15" }, "entity_type": "gene", "entity_name": "PALB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "PALB2-related cancer predisposition, MONDO:0700272", "Breast-ovarian cancer, familial, susceptibility to, 5, MIM#620442", "Pancreatic cancer, susceptibility to, 3, MIM#613348" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MMAC1", "TEP1", "PTEN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9588", "gene_name": "phosphatase and tensin homolog", "omim_gene": [ "601728" ], "alias_name": [ "mutated in multiple advanced cancers 1" ], "gene_symbol": "PTEN", "hgnc_symbol": "PTEN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:89622870-89731687", "ensembl_id": "ENSG00000171862" } }, "GRch38": { "90": { "location": "10:87863113-87971930", "ensembl_id": "ENSG00000171862" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "PTEN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "PTEN hamartoma tumor syndrome, MONDO:0017623", "PTEN hamartoma tumour syndromes, MIM#158350" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RAD51L2", "FANCO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9820", "gene_name": "RAD51 paralog C", "omim_gene": [ "602774" ], "alias_name": null, "gene_symbol": "RAD51C", "hgnc_symbol": "RAD51C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:56769934-56811703", "ensembl_id": "ENSG00000108384" } }, "GRch38": { "90": { "location": "17:58692573-58735611", "ensembl_id": "ENSG00000108384" } } }, "hgnc_date_symbol_changed": "1998-02-26" }, "entity_type": "gene", "entity_name": "RAD51C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "RAD51C-related cancer predisposition, MONDO:0700273", "Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253", "Breast-ovarian cancer, familial, susceptibility to, 3, MIM#613399" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "R51H3", "Trad", "HsTRAD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9823", "gene_name": "RAD51 paralog D", "omim_gene": [ "602954" ], "alias_name": [ "recombination repair protein", "DNA repair protein RAD51 homolog 4" ], "gene_symbol": "RAD51D", "hgnc_symbol": "RAD51D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:33426811-33448541", "ensembl_id": "ENSG00000185379" } }, "GRch38": { "90": { "location": "17:35092208-35121522", "ensembl_id": "ENSG00000185379" } } }, "hgnc_date_symbol_changed": "2011-07-01" }, "entity_type": "gene", "entity_name": "RAD51D", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "RAD51D-related cancer predisposition, MONDO:0700274", "Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669", "Breast-ovarian cancer, familial, susceptibility to, 4, MIM#614291" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p53", "LFS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11998", "gene_name": "tumor protein p53", "omim_gene": [ "191170" ], "alias_name": [ "Li-Fraumeni syndrome" ], "gene_symbol": "TP53", "hgnc_symbol": "TP53", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7565097-7590856", "ensembl_id": "ENSG00000141510" } }, "GRch38": { "90": { "location": "17:7661779-7687550", "ensembl_id": "ENSG00000141510" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TP53", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "Li-Fraumeni syndrome, MONDO:0018875", "Li-Fraumeni syndrome, MIM#151623" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:952", "gene_name": "BRCA1 associated RING domain 1", "omim_gene": [ "601593" ], "alias_name": null, "gene_symbol": "BARD1", "hgnc_symbol": "BARD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:215590370-215674428", "ensembl_id": "ENSG00000138376" } }, "GRch38": { "90": { "location": "2:214725646-214809711", "ensembl_id": "ENSG00000138376" } } }, "hgnc_date_symbol_changed": "1998-08-05" }, "entity_type": "gene", "entity_name": "BARD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "BARD1-related cancer predisposition, MONDO:0700267", "Breast cancer, susceptibility to, MIM#114480" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hIk-1", "LyF-1", "Hs.54452", "IKAROS", "PPP1R92" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13176", "gene_name": "IKAROS family zinc finger 1", "omim_gene": [ "603023" ], "alias_name": [ "protein phosphatase 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"panel": { "id": 4389, "hash_id": null, "name": "Autoimmune Lymphoproliferative Syndrome", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)", "status": "public", "version": "1.12", "version_created": "2026-02-26T20:52:40.847942+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD95", "APO-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11920", "gene_name": "Fas cell surface death receptor", "omim_gene": [ "134637" ], "alias_name": [ "TNF receptor superfamily member 6" ], "gene_symbol": "FAS", "hgnc_symbol": "FAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:90750414-90775542", "ensembl_id": "ENSG00000026103" } }, "GRch38": { "90": { "location": "10:88990582-89015785", "ensembl_id": "ENSG00000026103" } } }, "hgnc_date_symbol_changed": "2005-01-07" }, "entity_type": "gene", "entity_name": "FAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoimmune lymphoproliferative syndrome, type IA\tMIM#601859" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4389, "hash_id": null, "name": "Autoimmune Lymphoproliferative Syndrome", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)", "status": "public", "version": "1.12", "version_created": "2026-02-26T20:52:40.847942+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MCH5", "MACH", "FLICE", "Casp-8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1509", "gene_name": "caspase 8", "omim_gene": [ "601763" ], "alias_name": null, "gene_symbol": "CASP8", "hgnc_symbol": "CASP8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:202098166-202152434", "ensembl_id": "ENSG00000064012" } }, "GRch38": { "90": { "location": "2:201233443-201287711", "ensembl_id": "ENSG00000064012" } } }, "hgnc_date_symbol_changed": "1996-11-11" }, "entity_type": "gene", "entity_name": "CASP8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "12353035", "25814141", "12654726", "17213198", "16148088", "41026346" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoimmune lymphoproliferative syndrome, type IIB MIM#607271" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4389, "hash_id": null, "name": "Autoimmune Lymphoproliferative Syndrome", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel has been compiled based on the following study:\r\n\r\nGenetic 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"2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:38780304-38857776", "ensembl_id": "ENSG00000172575" } }, "GRch38": { "90": { "location": "15:38488103-38565575", "ensembl_id": "ENSG00000172575" } } }, "hgnc_date_symbol_changed": "1999-06-02" }, "entity_type": "gene", "entity_name": "RASGRP1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29155103", "39752212" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Immunodeficiency 64\tMIM#618534" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4389, "hash_id": null, "name": "Autoimmune Lymphoproliferative Syndrome", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital 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"ENSG00000168610" } } }, "hgnc_date_symbol_changed": "1995-11-08" }, "entity_type": "gene", "entity_name": "STAT3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36228738" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoimmune disease, multisystem, infantile-onset, 1\tMIM#615952", "STAT3-related early-onset multisystem autoimmune disease MONDO:0014414" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4389, "hash_id": null, "name": "Autoimmune Lymphoproliferative Syndrome", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)", "status": "public", "version": "1.12", "version_created": 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"description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "EMT", "PSCTK2", "LYK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6171", "gene_name": "IL2 inducible T-cell kinase", "omim_gene": [ "186973" ], "alias_name": null, "gene_symbol": "ITK", "hgnc_symbol": "ITK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:156569944-156682201", "ensembl_id": "ENSG00000113263" } }, "GRch38": { "90": { "location": "5:157142933-157255191", "ensembl_id": "ENSG00000113263" } } }, "hgnc_date_symbol_changed": "1995-12-18" }, "entity_type": "gene", "entity_name": "ITK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19425169", "22289921", "25061172", "26056787", "9311799", "10213685" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lymphoproliferative syndrome 1\tMIM#613011" ], "mode_of_inheritance": "BIALLELIC, autosomal or 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"hgnc_id": "HGNC:6407", "gene_name": "KRAS proto-oncogene, GTPase", "omim_gene": [ "190070" ], "alias_name": null, "gene_symbol": "KRAS", "hgnc_symbol": "KRAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:25357723-25403870", "ensembl_id": "ENSG00000133703" } }, "GRch38": { "90": { "location": "12:25204789-25250936", "ensembl_id": "ENSG00000133703" } } }, "hgnc_date_symbol_changed": "2005-01-24" }, "entity_type": "gene", "entity_name": "KRAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27577878", "39060684", "21079152" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "RAS-associated autoimmune leukoproliferative disorder\tMIM#614470" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4389, "hash_id": null, "name": "Autoimmune Lymphoproliferative Syndrome", "disease_group": "Immunological disorders", 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"hgnc_date_symbol_changed": "2017-02-16" }, "entity_type": "gene", "entity_name": "ADA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39060684", "29271561", "30692987", "34721429" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome\tMIM#615688" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4389, "hash_id": null, "name": "Autoimmune Lymphoproliferative Syndrome", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)", "status": "public", "version": "1.12", "version_created": "2026-02-26T20:52:40.847942+11:00", 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