Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=108
{ "count": 35535, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=109", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=107", "results": [ { "gene_data": { "alias": [ "CD137", "4-1BB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11924", "gene_name": "TNF receptor superfamily member 9", "omim_gene": [ "602250" ], "alias_name": null, "gene_symbol": "TNFRSF9", "hgnc_symbol": "TNFRSF9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:7979907-8000926", "ensembl_id": "ENSG00000049249" } }, "GRch38": { "90": { "location": "1:7915894-7943165", "ensembl_id": "ENSG00000049249" } } }, "hgnc_date_symbol_changed": "1996-06-12" }, "entity_type": "gene", "entity_name": "TNFRSF9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30872117", "31501153" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency 109 with lymphoproliferation, MIM# 620282", "EBV lymphoproliferation", "B-cell lymphoma", "Chronic active EBV infection" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "JAK1A", "JTK3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6190", "gene_name": "Janus kinase 1", "omim_gene": [ "147795" ], "alias_name": null, "gene_symbol": "JAK1", "hgnc_symbol": "JAK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:65298912-65432187", "ensembl_id": "ENSG00000162434" } }, "GRch38": { "90": { "location": "1:64833229-64966504", "ensembl_id": "ENSG00000162434" } } }, "hgnc_date_symbol_changed": "1992-04-16" }, "entity_type": "gene", "entity_name": "JAK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28111307", "28008925", "30671064", "38563820" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999", "Eosinophilia", "Eosinophilic enteritis", "Thyroid disease", "Poor growth", "Viral infections", "Susceptibility to mycobacteria and viruses" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CD122" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6009", "gene_name": "interleukin 2 receptor subunit beta", "omim_gene": [ "146710" ], "alias_name": null, "gene_symbol": "IL2RB", "hgnc_symbol": "IL2RB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:37521878-37571094", "ensembl_id": "ENSG00000100385" } }, "GRch38": { "90": { "location": "22:37125838-37175054", "ensembl_id": "ENSG00000100385" } } }, "hgnc_date_symbol_changed": "1990-01-22" }, "entity_type": "gene", "entity_name": "IL2RB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31040184", "31040185" ], "evidence": [ "Expert Review", "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495", "Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ADTD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:568", "gene_name": "adaptor related protein complex 3 delta 1 subunit", "omim_gene": [ "607246" ], "alias_name": null, "gene_symbol": "AP3D1", "hgnc_symbol": "AP3D1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:2100988-2164464", "ensembl_id": "ENSG00000065000" } }, "GRch38": { "90": { "location": "19:2100988-2164465", "ensembl_id": "ENSG00000065000" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "AP3D1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26744459", "9697856" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hermansky-Pudlak syndrome 10, MIM#\t617050", "Oculocutaneous albinism", "Severe neutropaenia", "Recurrent infections", "Seizures", "Hearing loss", "Neurodevelopmental delay" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ46828", "MGC32020" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28467", "gene_name": "Fanconi anemia core complex associated protein 24", "omim_gene": [ "610884" ], "alias_name": [ "Fanconi anemia-associated protein, 24kDa" ], "gene_symbol": "FAAP24", "hgnc_symbol": "FAAP24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:33463115-33469128", "ensembl_id": "ENSG00000131944" } }, "GRch38": { "90": { "location": "19:32972209-32978222", "ensembl_id": "ENSG00000131944" } } }, "hgnc_date_symbol_changed": "2015-05-29" }, "entity_type": "gene", "entity_name": "FAAP24", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27473539" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CIN85" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13867", "gene_name": "SH3 domain containing kinase binding protein 1", "omim_gene": [ "300374" ], "alias_name": null, "gene_symbol": "SH3KBP1", "hgnc_symbol": "SH3KBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:19552093-19905719", "ensembl_id": "ENSG00000147010" } }, "GRch38": { "90": { "location": "X:19533975-19887601", "ensembl_id": "ENSG00000147010" } } }, "hgnc_date_symbol_changed": "2000-12-14" }, "entity_type": "gene", "entity_name": "SH3KBP1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29636373", "21708930" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Immunodeficiency 61, MIM#\t300310" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "P115-RHOGEF", "SUB1.5", "LBCL2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:681", "gene_name": "Rho guanine nucleotide exchange factor 1", "omim_gene": [ "601855" ], "alias_name": null, "gene_symbol": "ARHGEF1", "hgnc_symbol": "ARHGEF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:42387228-42434302", "ensembl_id": "ENSG00000076928" } }, "GRch38": { "90": { "location": "19:41883161-41930150", "ensembl_id": "ENSG00000076928" } } }, "hgnc_date_symbol_changed": "2000-03-10" }, "entity_type": "gene", "entity_name": "ARHGEF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30521495" ], "evidence": [ "Expert Review Amber", "Expert list", "Expert list" ], "phenotypes": [ "Immunodeficiency 62, MIM#618459" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IRF-2BP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21729", "gene_name": "interferon regulatory factor 2 binding protein 2", "omim_gene": [ "615332" ], "alias_name": null, "gene_symbol": "IRF2BP2", "hgnc_symbol": "IRF2BP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:234740015-234745271", "ensembl_id": "ENSG00000168264" } }, "GRch38": { "90": { "location": "1:234604269-234609525", "ensembl_id": "ENSG00000168264" } } }, "hgnc_date_symbol_changed": "2003-07-21" }, "entity_type": "gene", "entity_name": "IRF2BP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27016798", "32048120", "36193988", "33864888" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Immunodeficiency, common variable, 14, MIM#\t617765" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "H2-KE4", "D6S2244E", "KE4", "RING5", "ZIP7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4927", "gene_name": "solute carrier family 39 member 7", "omim_gene": [ "601416" ], "alias_name": null, "gene_symbol": "SLC39A7", "hgnc_symbol": "SLC39A7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33168222-33172216", "ensembl_id": "ENSG00000112473" } }, "GRch38": { "90": { "location": "6:33200445-33204439", "ensembl_id": "ENSG00000112473" } } }, "hgnc_date_symbol_changed": "2003-10-27" }, "entity_type": "gene", "entity_name": "SLC39A7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30718914" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Agammaglobulinaemia 9, autosomal recessive, MIM#\t619693", "Antibody deficiency", "early onset infections", "blistering dermatosis", "failure to thrive", "thrombocytopaenia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NRF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7782", "gene_name": "nuclear factor, erythroid 2 like 2", "omim_gene": [ "600492" ], "alias_name": [ "NF-E2-related factor 2" ], "gene_symbol": "NFE2L2", "hgnc_symbol": "NFE2L2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:178092323-178257425", "ensembl_id": "ENSG00000116044" } }, "GRch38": { "90": { "location": "2:177227595-177392697", "ensembl_id": "ENSG00000116044" } } }, "hgnc_date_symbol_changed": "1994-03-24" }, "entity_type": "gene", "entity_name": "NFE2L2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29018201" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM#\t617744", "Recurrent respiratory and skin infection", "Growth retardation", "Developmental delay, borderline ID", "White matter cerebral lesions" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "treatable" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "LMP10", "MGC1665", "beta2i" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9538", "gene_name": "proteasome subunit beta 10", "omim_gene": [ "176847" ], "alias_name": null, "gene_symbol": "PSMB10", "hgnc_symbol": "PSMB10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67968405-67970990", "ensembl_id": "ENSG00000205220" } }, "GRch38": { "90": { "location": "16:67934502-67937087", "ensembl_id": "ENSG00000205220" } } }, "hgnc_date_symbol_changed": "1993-07-29" }, "entity_type": "gene", "entity_name": "PSMB10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31783057", "37600812", "38503300" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Proteasome-associated autoinflammatory syndrome 5, MIM# 619175", "Severe combined immunodeficiency, MONDO:0015974, PSMB10-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "LAP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15842", "gene_name": "erbb2 interacting protein", "omim_gene": [ "606944" ], "alias_name": [ "densin-180-like protein", "ERBB2-interacting protein" ], "gene_symbol": "ERBIN", "hgnc_symbol": "ERBIN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:65222303-65378377", "ensembl_id": "ENSG00000112851" } }, "GRch38": { "90": { "location": "5:65926475-66082549", "ensembl_id": "ENSG00000112851" } } }, "hgnc_date_symbol_changed": "2016-02-17" }, "entity_type": "gene", "entity_name": "ERBIN", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28126831" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Combined immunodeficiency, MONDO:0015131, ERBIN-related", "Recurrent respiratory infections", "Susceptibility to S.aureus", "Eczema", "Hyperextensible joints", "Scoliosis", "Arterial dilatation in some" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IP3KB", "IP3-3KB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6179", "gene_name": "inositol-trisphosphate 3-kinase B", "omim_gene": [ "147522" ], "alias_name": null, "gene_symbol": "ITPKB", "hgnc_symbol": "ITPKB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:226819391-226927024", "ensembl_id": "ENSG00000143772" } }, "GRch38": { "90": { "location": "1:226631690-226739323", "ensembl_id": "ENSG00000143772" } } }, "hgnc_date_symbol_changed": "1992-04-15" }, "entity_type": "gene", "entity_name": "ITPKB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31987846" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Severe combined immunodeficiency MONDO:0015974, absent T cells, present B cells and NK cells" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "dJ553F4.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15992", "gene_name": "zinc finger protein 341", "omim_gene": null, "alias_name": null, "gene_symbol": "ZNF341", "hgnc_symbol": "ZNF341", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:32319463-32380075", "ensembl_id": "ENSG00000131061" } }, "GRch38": { "90": { "location": "20:33731657-33792269", "ensembl_id": "ENSG00000131061" } } }, "hgnc_date_symbol_changed": "2001-09-17" }, "entity_type": "gene", "entity_name": "ZNF341", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29907691", "29907690" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282", "Mild facial dysmorphism", "Early onset eczema", "Recurrent bacterial skin infections, abscesses", "Recurrent respiratory infections, lung abscesses and pneumothoraces", "Hyperextensible joints, bone fractures, retention of primary teeth" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA2025", "roquin", "RP5-1198E17.5", "RNF198" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29434", "gene_name": "ring finger and CCCH-type domains 1", "omim_gene": [ "609424" ], "alias_name": [ "KIAA2025 protein" ], "gene_symbol": "RC3H1", "hgnc_symbol": "RC3H1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:173900352-173991435", "ensembl_id": "ENSG00000135870" } }, "GRch38": { "90": { "location": "1:173931214-174022297", "ensembl_id": "ENSG00000135870" } } }, "hgnc_date_symbol_changed": "2005-08-19" }, "entity_type": "gene", "entity_name": "RC3H1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31636267", "15917799", "40769319" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Haemophagocytic lymphohistiocytosis, familial, 6, MIM#\t618998" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GP130", "CD130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6021", "gene_name": "interleukin 6 signal transducer", "omim_gene": [ "600694" ], "alias_name": [ "gp130, oncostatin M receptor", "Interleukin-6 receptor subunit beta" ], "gene_symbol": "IL6ST", "hgnc_symbol": "IL6ST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:55230923-55290821", "ensembl_id": "ENSG00000134352" } }, "GRch38": { "90": { "location": "5:55935095-55994993", "ensembl_id": "ENSG00000134352" } } }, "hgnc_date_symbol_changed": "1991-08-12" }, "entity_type": "gene", "entity_name": "IL6ST", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28747427", "30309848", "12370259", "16041381", "31914175", "32207811", "33517393" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523", "Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response", "Hyper-IgE recurrent infection syndrome 4A, autosomal dominant, MIM#\t619752", "Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8978", "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma", "omim_gene": [ "601232" ], "alias_name": null, "gene_symbol": "PIK3CG", "hgnc_symbol": "PIK3CG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:106505723-106547590", "ensembl_id": "ENSG00000105851" } }, "GRch38": { "90": { "location": "7:106865278-106907145", "ensembl_id": "ENSG00000105851" } } }, "hgnc_date_symbol_changed": "1994-07-15" }, "entity_type": "gene", "entity_name": "PIK3CG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32001535", "31554793" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Immunodeficiency 97 with autoinflammation, MIM#\t619802", "Immune dysregulation", "HLH-like", "childhood-onset antibody defects", "cytopenias", "T lymphocytic pneumonitis and colitis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0935" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29623", "gene_name": "mannosidase alpha class 2B member 2", "omim_gene": null, "alias_name": [ "core-specific lysosomal alpha-1,6-Mannosidase" ], "gene_symbol": "MAN2B2", "hgnc_symbol": "MAN2B2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:6576902-6625089", "ensembl_id": "ENSG00000013288" } }, "GRch38": { "90": { "location": "4:6575175-6623362", "ensembl_id": "ENSG00000013288" } } }, "hgnc_date_symbol_changed": "2004-04-05" }, "entity_type": "gene", "entity_name": "MAN2B2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38622837", "35637269", "31775018" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6598", "gene_name": "DNA ligase 1", "omim_gene": [ "126391" ], "alias_name": null, "gene_symbol": "LIG1", "hgnc_symbol": "LIG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:48618702-48673860", "ensembl_id": "ENSG00000105486" } }, "GRch38": { "90": { "location": "19:48115445-48170603", "ensembl_id": "ENSG00000105486" } } }, "hgnc_date_symbol_changed": "1991-05-09" }, "entity_type": "gene", "entity_name": "LIG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30395541" ], "evidence": [ "Literature", "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency 96, MIM# 619774", "Lymphopaenia", "Hypogammaglobulinaemia", "Recurrent bacterial and viral infections", "Growth retardation", "Sun sensitivity, radiation sensitivity", "Macrocytosis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DPE2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9178", "gene_name": "DNA polymerase epsilon 2, accessory subunit", "omim_gene": [ "602670" ], "alias_name": [ "DNA polymerase epsilon subunit B" ], "gene_symbol": "POLE2", "hgnc_symbol": "POLE2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:50110273-50155140", "ensembl_id": "ENSG00000100479" } }, "GRch38": { "90": { "location": "14:49643555-49688422", "ensembl_id": "ENSG00000100479" } } }, "hgnc_date_symbol_changed": "1998-07-03" }, "entity_type": "gene", "entity_name": "POLE2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26365386" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Combined immunodeficiency MONDO:0015131, POLE2-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0290" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29002", "gene_name": "FCH domain only 1", "omim_gene": [ "613437" ], "alias_name": null, "gene_symbol": "FCHO1", "hgnc_symbol": "FCHO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:17858527-17899377", "ensembl_id": "ENSG00000130475" } }, "GRch38": { "90": { "location": "19:17747718-17788568", "ensembl_id": "ENSG00000130475" } } }, "hgnc_date_symbol_changed": "2004-01-08" }, "entity_type": "gene", "entity_name": "FCHO1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32098969", "30822429" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency 76, MIM# 619164", "Combined immunodeficiency", "T cells: low, poor proliferation", "B cells: normal number", "Recurrent infections (viral, mycobacteria, bacterial, fungal)", "lymphoproliferation", "Failure to thrive", "Increased activation-induced T-cell death", "Defective clathrin-mediated endocytosis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "I-Rel", "c-Rel" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9954", "gene_name": "REL proto-oncogene, NF-kB subunit", "omim_gene": [ "164910" ], "alias_name": null, "gene_symbol": "REL", "hgnc_symbol": "REL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:61108656-61158745", "ensembl_id": "ENSG00000162924" } }, "GRch38": { "90": { "location": "2:60881521-60931610", "ensembl_id": "ENSG00000162924" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "REL", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31103457", "34623332" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Immunodeficiency 92, MIM# 619652", "Combined immunodeficiency", "T cells: normal, decreased memory CD4, poor proliferation", "B cells: low, mostly naive, few switched memory B cells, impaired proliferation", "Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms", "Defective innate immunity" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p65" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9955", "gene_name": "RELA proto-oncogene, NF-kB subunit", "omim_gene": [ "164014" ], "alias_name": null, "gene_symbol": "RELA", "hgnc_symbol": "RELA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65421067-65430565", "ensembl_id": "ENSG00000173039" } }, "GRch38": { "90": { "location": "11:65653596-65663094", "ensembl_id": "ENSG00000173039" } } }, "hgnc_date_symbol_changed": "1991-11-14" }, "entity_type": "gene", "entity_name": "RELA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28600438", "29305315", "37273177" ], "evidence": [ "Expert Review Green", "Literature", "Expert list" ], "phenotypes": [ "Mucocutaneous ulceration, chronic, MIM#\t618287", "Impaired NFkB activation", "reduced production of inflammatory cytokines", "autoimmune cytopaenias" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "REL-B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9956", "gene_name": "RELB proto-oncogene, NF-kB subunit", "omim_gene": [ "604758" ], "alias_name": null, "gene_symbol": "RELB", "hgnc_symbol": "RELB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:45504688-45541452", "ensembl_id": "ENSG00000104856" } }, "GRch38": { "90": { "location": "19:45001430-45038198", "ensembl_id": "ENSG00000104856" } } }, "hgnc_date_symbol_changed": "1995-10-02" }, "entity_type": "gene", "entity_name": "RELB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "7834753", "26385063", "39231201" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency 53, MIM#\t617585", "T cells: normal number, poor diversity, poor function", "recurrent infections" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ23809", "CPTIC", "CPT1P" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18540", "gene_name": "carnitine palmitoyltransferase 1C", "omim_gene": [ "608846" ], "alias_name": null, "gene_symbol": "CPT1C", "hgnc_symbol": "CPT1C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50194155-50216988", "ensembl_id": "ENSG00000169169" } }, "GRch38": { "90": { "location": "19:49690898-49713731", "ensembl_id": "ENSG00000169169" } } }, "hgnc_date_symbol_changed": "2003-11-27" }, "entity_type": "gene", "entity_name": "CPT1C", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25751282", "23973755", "30564185", "41312619" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Spastic paraplegia 73, autosomal dominant MIM#616282", "MONDO:0014568" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PMCA4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:817", "gene_name": "ATPase plasma membrane Ca2+ transporting 4", "omim_gene": [ "108732" ], "alias_name": [ "plasma membrane calcium-transporting ATPase 4" ], "gene_symbol": "ATP2B4", "hgnc_symbol": "ATP2B4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:203595689-203713209", "ensembl_id": "ENSG00000058668" } }, "GRch38": { "90": { "location": "1:203626561-203744081", "ensembl_id": "ENSG00000058668" } } }, "hgnc_date_symbol_changed": "1990-10-05" }, "entity_type": "gene", "entity_name": "ATP2B4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25119969", "25798335", "29691679" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Hereditary spastic paraplegia, MONDO:0019064, ATP2B4-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KRT6IRS", "KRT6IRS1", "K6IRS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28927", "gene_name": "keratin 71", "omim_gene": [ "608245" ], "alias_name": null, "gene_symbol": "KRT71", "hgnc_symbol": "KRT71", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52937693-52946931", "ensembl_id": "ENSG00000139648" } }, "GRch38": { "90": { "location": "12:52543909-52553147", "ensembl_id": "ENSG00000139648" } } }, "hgnc_date_symbol_changed": "2006-07-17" }, "entity_type": "gene", "entity_name": "KRT71", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "14632181", "22592156", "19713490" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "?Hypotrichosis 13, 615896" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "EGRA", "TIEG1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11810", "gene_name": "Kruppel like factor 10", "omim_gene": [ "601878" ], "alias_name": null, "gene_symbol": "KLF10", "hgnc_symbol": "KLF10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:103661007-103668130", "ensembl_id": "ENSG00000155090" } }, "GRch38": { "90": { "location": "8:102648779-102655902", "ensembl_id": "ENSG00000155090" } } }, "hgnc_date_symbol_changed": "2004-12-01" }, "entity_type": "gene", "entity_name": "KLF10", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22234868" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hypertrophic cardiomyopathy MONDO:0005045, KLF10-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MURF-1", "IRF", "SMRZ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16007", "gene_name": "tripartite motif containing 63", "omim_gene": [ "606131" ], "alias_name": [ "muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein" ], "gene_symbol": "TRIM63", "hgnc_symbol": "TRIM63", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:26377795-26394927", "ensembl_id": "ENSG00000158022" } }, "GRch38": { "90": { "location": "1:26051304-26068436", "ensembl_id": "ENSG00000158022" } } }, "hgnc_date_symbol_changed": "2004-11-17" }, "entity_type": "gene", "entity_name": "TRIM63", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "30681346", "32451364" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cardiomyopathy, familial hypertrophic, 31, MIM# 621270" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ALP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20767", "gene_name": "PDZ and LIM domain 3", "omim_gene": [ "605889" ], "alias_name": null, "gene_symbol": "PDLIM3", "hgnc_symbol": "PDLIM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:186422851-186456766", "ensembl_id": "ENSG00000154553" } }, "GRch38": { "90": { "location": "4:185500660-185535612", "ensembl_id": "ENSG00000154553" } } }, "hgnc_date_symbol_changed": "2004-02-06" }, "entity_type": "gene", "entity_name": "PDLIM3", "confidence_level": "1", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "30681346", "26455666", "20801532" ], "evidence": [ "Expert Review Red", "ClinGen", "Expert Review Red", "Literature" ], "phenotypes": [ "Hypertrophic cardiomyopathy", "Dilated cardiomyopathy, MONDO:0005021" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "SV/CNV", "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1556", "UNC89", "KIAA1639", "ARHGEF30" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15719", "gene_name": "obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF", "omim_gene": [ "608616" ], "alias_name": null, "gene_symbol": "OBSCN", "hgnc_symbol": "OBSCN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:228395831-228566577", "ensembl_id": "ENSG00000154358" } }, "GRch38": { "90": { "location": "1:228208130-228378874", "ensembl_id": "ENSG00000154358" } } }, "hgnc_date_symbol_changed": "2001-05-21" }, "entity_type": "gene", "entity_name": "OBSCN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30681346", "26573135", "17716621", "25173926", "28630914", "33438037", "34957489" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Rhabdomyolysis MONDO:0005290, OBSCN-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ36006", "bA373N18.2", "FLJ22944" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26684", "gene_name": "cilia and flagella associated protein 43", "omim_gene": [ "617558" ], "alias_name": null, "gene_symbol": "CFAP43", "hgnc_symbol": "CFAP43", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:105889646-105992120", "ensembl_id": "ENSG00000197748" } }, "GRch38": { "90": { "location": "10:104129888-104232362", "ensembl_id": "ENSG00000197748" } } }, "hgnc_date_symbol_changed": "2014-07-18" }, "entity_type": "gene", "entity_name": "CFAP43", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31884020", "31004071", "29449551", "28552195", "29277146", "29449551", "34089056", "34100391", "34529793", "36960497", "38745955", "40376536", "41341611" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 19 MONDO:0054723" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SOCS-1", "SSI-1", "JAB", "TIP3", "Cish1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19383", "gene_name": "suppressor of cytokine signaling 1", "omim_gene": [ "603597" ], "alias_name": null, "gene_symbol": "SOCS1", "hgnc_symbol": "SOCS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:11348262-11350036", "ensembl_id": "ENSG00000185338" } }, "GRch38": { "90": { "location": "16:11254405-11256179", "ensembl_id": "ENSG00000185338" } } }, "hgnc_date_symbol_changed": "2002-11-13" }, "entity_type": "gene", "entity_name": "SOCS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32499645", "10490099", "10490100", "33087723" ], "evidence": [ "Literature", "Expert Review Green", "Literature" ], "phenotypes": [ "Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375", "Common variable immunodeficiency", "Early-onset autoimmunity" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MRCKB", "KIAA1124" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1738", "gene_name": "CDC42 binding protein kinase beta", "omim_gene": [ "614062" ], "alias_name": null, "gene_symbol": "CDC42BPB", "hgnc_symbol": "CDC42BPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:103398716-103523799", "ensembl_id": "ENSG00000198752" } }, "GRch38": { "90": { "location": "14:102932379-103057462", "ensembl_id": "ENSG00000198752" } } }, "hgnc_date_symbol_changed": "1998-11-06" }, "entity_type": "gene", "entity_name": "CDC42BPB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32031333" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TCELLPTP", "TC-PTP", "TCPTP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9650", "gene_name": "protein tyrosine phosphatase, non-receptor type 2", "omim_gene": [ "176887" ], "alias_name": null, "gene_symbol": "PTPN2", "hgnc_symbol": "PTPN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:12785477-12929642", "ensembl_id": "ENSG00000175354" } }, "GRch38": { "90": { "location": "18:12785478-12929643", "ensembl_id": "ENSG00000175354" } } }, "hgnc_date_symbol_changed": "1991-09-13" }, "entity_type": "gene", "entity_name": "PTPN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32499645", "27658548", "39028869", "37537852", "35389161" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NS1-BP", "HSPC068", "NS-1", "KIAA0850", "ND1", "KLHL39" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16951", "gene_name": "influenza virus NS1A binding protein", "omim_gene": [ "609209" ], "alias_name": [ "kelch-like family member 39" ], "gene_symbol": "IVNS1ABP", "hgnc_symbol": "IVNS1ABP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:185265520-185286461", "ensembl_id": "ENSG00000116679" } }, "GRch38": { "90": { "location": "1:185296388-185317329", "ensembl_id": "ENSG00000116679" } } }, "hgnc_date_symbol_changed": "2003-05-19" }, "entity_type": "gene", "entity_name": "IVNS1ABP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32499645" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Immunodeficiency 70, MIM#618969" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Gpnat1", "FLJ10607" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19980", "gene_name": "glucosamine-phosphate N-acetyltransferase 1", "omim_gene": [ "616510" ], "alias_name": null, "gene_symbol": "GNPNAT1", "hgnc_symbol": "GNPNAT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:53241912-53258386", "ensembl_id": "ENSG00000100522" } }, "GRch38": { "90": { "location": "14:52775194-52791668", "ensembl_id": "ENSG00000100522" } } }, "hgnc_date_symbol_changed": "2002-12-13" }, "entity_type": "gene", "entity_name": "GNPNAT1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32591345" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Rhizomelic dysplasia, Ain-Naz type, MIM#619598" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TAOS2", "FLJ10261", "DOG1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21625", "gene_name": "anoctamin 1", "omim_gene": [ "610108" ], "alias_name": null, "gene_symbol": "ANO1", "hgnc_symbol": "ANO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:69924408-70035634", "ensembl_id": "ENSG00000131620" } }, "GRch38": { "90": { "location": "11:70078302-70189528", "ensembl_id": "ENSG00000131620" } } }, "hgnc_date_symbol_changed": "2008-08-28" }, "entity_type": "gene", "entity_name": "ANO1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32487539", "37253099" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Intestinal dysmotility syndrome, MIM# 620045", "Moyamoya disease 7, MIM# 620687" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FinGER8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30511", "gene_name": "Yip1 interacting factor homolog B, membrane trafficking protein", "omim_gene": null, "alias_name": null, "gene_symbol": "YIF1B", "hgnc_symbol": "YIF1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:38795753-38807913", "ensembl_id": "ENSG00000167645" } }, "GRch38": { "90": { "location": "19:38305104-38317273", "ensembl_id": "ENSG00000167645" } } }, "hgnc_date_symbol_changed": "2005-03-14" }, "entity_type": "gene", "entity_name": "YIF1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32006098", "26077767" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Kaya-Barakat-Masson syndrome, MIM#\t619125", "Central hypotonia", "Failure to thrive", "Microcephaly", "Global developmental delay", "Intellectual disability", "Seizures", "Spasticity", "Abnormality of movement" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KRM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17550", "gene_name": "kringle containing transmembrane protein 1", "omim_gene": [ "609898" ], "alias_name": null, "gene_symbol": "KREMEN1", "hgnc_symbol": "KREMEN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29469066-29564321", "ensembl_id": "ENSG00000183762" } }, "GRch38": { "90": { "location": "22:29073078-29168333", "ensembl_id": "ENSG00000183762" } } }, "hgnc_date_symbol_changed": "2002-11-15" }, "entity_type": "gene", "entity_name": "KREMEN1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27049303", "27550540" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Ectodermal dysplasia 13, hair/tooth type MIM#617392" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CL25084", "XTP3TPB", "XTP3-B", "ERLECTIN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25222", "gene_name": "endoplasmic reticulum lectin 1", "omim_gene": [ "611229" ], "alias_name": [ "erlectin 1" ], "gene_symbol": "ERLEC1", "hgnc_symbol": "ERLEC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:54014181-54045956", "ensembl_id": "ENSG00000068912" } }, "GRch38": { "90": { "location": "2:53787044-53818819", "ensembl_id": "ENSG00000068912" } } }, "hgnc_date_symbol_changed": "2009-08-26" }, "entity_type": "gene", "entity_name": "ERLEC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32442352" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "autosomal dominant prognathism MONDO:0008312" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12525", "gene_name": "UDP-glucose 6-dehydrogenase", "omim_gene": [ "603370" ], "alias_name": null, "gene_symbol": "UGDH", "hgnc_symbol": "UGDH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:39500375-39529931", "ensembl_id": "ENSG00000109814" } }, "GRch38": { "90": { "location": "4:39498755-39528311", "ensembl_id": "ENSG00000109814" } } }, "hgnc_date_symbol_changed": "1997-12-01" }, "entity_type": "gene", "entity_name": "UGDH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32001716" ], "evidence": [ "Expert Review Red", "ClinGen", "Expert Review Green", "Literature" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 84 - MIM #618792" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ23191" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26256", "gene_name": "neuron derived neurotrophic factor", "omim_gene": [ "616506" ], "alias_name": null, "gene_symbol": "NDNF", "hgnc_symbol": "NDNF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:121956768-121994176", "ensembl_id": "ENSG00000173376" } }, "GRch38": { "90": { "location": "4:121035613-121073021", "ensembl_id": "ENSG00000173376" } } }, "hgnc_date_symbol_changed": "2011-07-05" }, "entity_type": "gene", "entity_name": "NDNF", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31883645", "40788466", "36454653" ], "evidence": [ "Literature", "Expert Review Amber", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism 25 with anosmia MIM#618841" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:15527", "gene_name": "klotho beta", "omim_gene": [ "611135" ], "alias_name": [ "b-Klotho" ], "gene_symbol": "KLB", "hgnc_symbol": "KLB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:39408473-39453156", "ensembl_id": "ENSG00000134962" } }, "GRch38": { "90": { "location": "4:39406853-39451536", "ensembl_id": "ENSG00000134962" } } }, "hgnc_date_symbol_changed": "2005-10-10" }, "entity_type": "gene", "entity_name": "KLB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28754744" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism MONDO:0018555, KLB-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ20294", "KIAA1736", "WDR94", "DCAF3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25990", "gene_name": "autophagy and beclin 1 regulator 1", "omim_gene": [ "611359" ], "alias_name": [ "WD repeat domain 94", "DDB1 and CUL4 associated factor 3" ], "gene_symbol": "AMBRA1", "hgnc_symbol": "AMBRA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:46417964-46615675", "ensembl_id": "ENSG00000110497" } }, "GRch38": { "90": { "location": "11:46396414-46594125", "ensembl_id": "ENSG00000110497" } } }, "hgnc_date_symbol_changed": "2008-02-01" }, "entity_type": "gene", "entity_name": "AMBRA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17589504", "32333458" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neural tube defects, susceptibility to, MONDO:0020705, AMBRA1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ERK", "ERK2", "p41mapk", "MAPK2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6871", "gene_name": "mitogen-activated protein kinase 1", "omim_gene": [ "176948" ], "alias_name": null, "gene_symbol": "MAPK1", "hgnc_symbol": "MAPK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:22108789-22221970", "ensembl_id": "ENSG00000100030" } }, "GRch38": { "90": { "location": "22:21754500-21867680", "ensembl_id": "ENSG00000100030" } } }, "hgnc_date_symbol_changed": "1993-11-05" }, "entity_type": "gene", "entity_name": "MAPK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32721402" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Noonan syndrome 13, MIM#619087", "Global developmental delay", "Intellectual disability", "Behavioral abnormality", "Growth delay", "Abnormality of the face", "Abnormality of the neck", "Abnormality of the cardiovascular system", "Abnormality of the skin" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0719", "Tom70" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11985", "gene_name": "translocase of outer mitochondrial membrane 70", "omim_gene": [ "606081" ], "alias_name": null, "gene_symbol": "TOMM70", "hgnc_symbol": "TOMM70", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:100082275-100120242", "ensembl_id": "ENSG00000154174" } }, "GRch38": { "90": { "location": "3:100363431-100401398", "ensembl_id": "ENSG00000154174" } } }, "hgnc_date_symbol_changed": "2016-02-26" }, "entity_type": "gene", "entity_name": "TOMM70", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31907385", "32356556" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Mitochondrial disease, MONDO:0044970, TOMM70-related", "Leukodystrophy, MONDO:0019046, TOMM70-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TINUR", "NOT", "RNR1", "HZF-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7981", "gene_name": "nuclear receptor subfamily 4 group A member 2", "omim_gene": [ "601828" ], "alias_name": null, "gene_symbol": "NR4A2", "hgnc_symbol": "NR4A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:157180944-157198860", "ensembl_id": "ENSG00000153234" } }, "GRch38": { "90": { "location": "2:156324432-156342348", "ensembl_id": "ENSG00000153234" } } }, "hgnc_date_symbol_changed": "1997-07-11" }, "entity_type": "gene", "entity_name": "NR4A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31428396", "30504930", "29770430", "12756136", "9092472" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4080", "gene_name": "gamma-aminobutyric acid type A receptor alpha6 subunit", "omim_gene": [ "137143" ], "alias_name": [ "GABA(A) receptor, alpha 6" ], "gene_symbol": "GABRA6", "hgnc_symbol": "GABRA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:160974069-161129599", "ensembl_id": "ENSG00000145863" } }, "GRch38": { "90": { "location": "5:161547063-161702593", "ensembl_id": "ENSG00000145863" } } }, "hgnc_date_symbol_changed": "1994-04-20" }, "entity_type": "gene", "entity_name": "GABRA6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21930603", "29215089", "19429026" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Benign familial inherited epilepsy", "Childhood absence epilepsy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IPOA8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21839", "gene_name": "karyopherin subunit alpha 7", "omim_gene": [ "614107" ], "alias_name": [ "importin alpha 8" ], "gene_symbol": "KPNA7", "hgnc_symbol": "KPNA7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:98771197-98805129", "ensembl_id": "ENSG00000185467" } }, "GRch38": { "90": { "location": "7:99173574-99207506", "ensembl_id": "ENSG00000185467" } } }, "hgnc_date_symbol_changed": "2009-04-07" }, "entity_type": "gene", "entity_name": "KPNA7", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24045845", "32179771", "36647821" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Oocyte/zygote/embryo maturation arrest 17, MIM# 620319", "Neurodevelopmental disorder (MONDO#0700092), KPNA7-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC33887" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28514", "gene_name": "centrosomal protein 112", "omim_gene": null, "alias_name": null, "gene_symbol": "CEP112", "hgnc_symbol": "CEP112", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:63631656-64188202", "ensembl_id": "ENSG00000154240" } }, "GRch38": { "90": { "location": "17:65635538-66192084", "ensembl_id": "ENSG00000154240" } } }, "hgnc_date_symbol_changed": "2011-05-06" }, "entity_type": "gene", "entity_name": "CEP112", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39349455", "31654588" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 44, MIM#619044", "Acephalic spermatozoa", "infertility" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ZNF163B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4238", "gene_name": "growth factor independent 1B transcriptional repressor", "omim_gene": [ "604383" ], "alias_name": null, "gene_symbol": "GFI1B", "hgnc_symbol": "GFI1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:135820932-135867083", "ensembl_id": "ENSG00000165702" } }, "GRch38": { "90": { "location": "9:132944000-132991687", "ensembl_id": "ENSG00000165702" } } }, "hgnc_date_symbol_changed": "1998-09-17" }, "entity_type": "gene", "entity_name": "GFI1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24325358", "23927492", "28041820", "11825872" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Bleeding disorder, platelet-type, 17 MIM#187900" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp434H2226" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25287", "gene_name": "LMBR1 domain containing 2", "omim_gene": null, "alias_name": null, "gene_symbol": "LMBRD2", "hgnc_symbol": "LMBRD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:36098514-36152063", "ensembl_id": "ENSG00000164187" } }, "GRch38": { "90": { "location": "5:36098412-36151961", "ensembl_id": "ENSG00000164187" } } }, "hgnc_date_symbol_changed": "2005-07-25" }, "entity_type": "gene", "entity_name": "LMBRD2", "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": [ "32820033", "https://doi.org/10.1101/797787" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental delay with variable neurologic and brain abnormalities, MIM# 619694", "Global developmental delay", "Intellectual disability", "Microcephaly", "Seizures", "Abnormality of nervous system morphology", "Abnormality of the eye" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ00101", "DKFZp761L1518" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25430", "gene_name": "leucine rich repeat containing 56", "omim_gene": null, "alias_name": null, "gene_symbol": "LRRC56", "hgnc_symbol": "LRRC56", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:537527-554916", "ensembl_id": "ENSG00000161328" } }, "GRch38": { "90": { "location": "11:537527-554916", "ensembl_id": "ENSG00000161328" } } }, "hgnc_date_symbol_changed": "2005-10-18" }, "entity_type": "gene", "entity_name": "LRRC56", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30388400" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Ciliary dyskinesia, primary, 39\t618254" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PNK", "PKH", "FLJ21324", "PRED79", "FLJ31940", "MGC15873" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8819", "gene_name": "pyridoxal kinase", "omim_gene": [ "179020" ], "alias_name": null, "gene_symbol": "PDXK", "hgnc_symbol": "PDXK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:45138975-45182188", "ensembl_id": "ENSG00000160209" } }, "GRch38": { "90": { "location": "21:43719094-43762307", "ensembl_id": "ENSG00000160209" } } }, "hgnc_date_symbol_changed": "1998-12-03" }, "entity_type": "gene", "entity_name": "PDXK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32522499", "31187503", "27604308" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Axonal polyneuropathy", "optic atrophy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PUM", "MYOD", "bHLHc1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7611", "gene_name": "myogenic differentiation 1", "omim_gene": [ "159970" ], "alias_name": [ "myoblast determination protein 1" ], "gene_symbol": "MYOD1", "hgnc_symbol": "MYOD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:17741115-17743678", "ensembl_id": "ENSG00000129152" } }, "GRch38": { "90": { "location": "11:17719568-17722131", "ensembl_id": "ENSG00000129152" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "MYOD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26733463", "30403323", "31260566" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM#\t618975" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5033", "gene_name": "heterogeneous nuclear ribonucleoprotein A2/B1", "omim_gene": [ "600124" ], "alias_name": null, "gene_symbol": "HNRNPA2B1", "hgnc_symbol": "HNRNPA2B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:26229547-26241149", "ensembl_id": "ENSG00000122566" } }, "GRch38": { "90": { "location": "7:26189927-26201529", "ensembl_id": "ENSG00000122566" } } }, "hgnc_date_symbol_changed": "2007-08-16" }, "entity_type": "gene", "entity_name": "HNRNPA2B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23455423", "30279180", "29358076", "26744327", "23635965" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460", "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TBP1", "TBP-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9549", "gene_name": "proteasome 26S subunit, ATPase 3", "omim_gene": [ "186852" ], "alias_name": null, "gene_symbol": "PSMC3", "hgnc_symbol": "PSMC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47440320-47447993", "ensembl_id": "ENSG00000165916" } }, "GRch38": { "90": { "location": "11:47418769-47426473", "ensembl_id": "ENSG00000165916" } } }, "hgnc_date_symbol_changed": "1995-12-06" }, "entity_type": "gene", "entity_name": "PSMC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32500975", "37256937" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ebstein-Bezieau neurodevelopmental syndrome, MIM# 621539", "Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20869", "gene_name": "bone morphogenetic protein 10", "omim_gene": [ "608748" ], "alias_name": null, "gene_symbol": "BMP10", "hgnc_symbol": "BMP10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:69092613-69098649", "ensembl_id": "ENSG00000163217" } }, "GRch38": { "90": { "location": "2:68865481-68871517", "ensembl_id": "ENSG00000163217" } } }, "hgnc_date_symbol_changed": "2003-04-16" }, "entity_type": "gene", "entity_name": "BMP10", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30578383" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Pulmonary arterial hypertension" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12828", "gene_name": "X-ray repair cross complementing 1", "omim_gene": [ "194360" ], "alias_name": null, "gene_symbol": "XRCC1", "hgnc_symbol": "XRCC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:44047192-44084625", "ensembl_id": "ENSG00000073050" } }, "GRch38": { "90": { "location": "19:43543040-43580473", "ensembl_id": "ENSG00000073050" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "XRCC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28002403", "29472272" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 26 MIM#617633" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12335", "gene_name": "transient receptor potential cation channel subfamily C member 3", "omim_gene": [ "602345" ], "alias_name": null, "gene_symbol": "TRPC3", "hgnc_symbol": "TRPC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:122800182-122872909", "ensembl_id": "ENSG00000138741" } }, "GRch38": { "90": { "location": "4:121879027-121951754", "ensembl_id": "ENSG00000138741" } } }, "hgnc_date_symbol_changed": "1995-09-01" }, "entity_type": "gene", "entity_name": "TRPC3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "25477146", "19351902" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 41 MIM#616410" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PPP1R143" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11071", "gene_name": "solute carrier family 9 member A1", "omim_gene": [ "107310" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 143" ], "gene_symbol": "SLC9A1", "hgnc_symbol": "SLC9A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:27425306-27493472", "ensembl_id": "ENSG00000090020" } }, "GRch38": { "90": { "location": "1:27098815-27166981", "ensembl_id": "ENSG00000090020" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "SLC9A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25205112", "30018422", "25760855" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Lichtenstein-Knorr syndrome, MIM# 616291" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MADR1", "JV4-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6767", "gene_name": "SMAD family member 1", "omim_gene": [ "601595" ], "alias_name": null, "gene_symbol": "SMAD1", "hgnc_symbol": "SMAD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:146402346-146479231", "ensembl_id": "ENSG00000170365" } }, "GRch38": { "90": { "location": "4:145481194-145558079", "ensembl_id": "ENSG00000170365" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "SMAD1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21898662", "23478097" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Pulmonary arterial hypertension MONDO:0015924, SMAD1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:29121", "gene_name": "microtubule crosslinking factor 1", "omim_gene": [ "615766" ], "alias_name": null, "gene_symbol": "MTCL1", "hgnc_symbol": "MTCL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:8705659-8832776", "ensembl_id": "ENSG00000168502" } }, "GRch38": { "90": { "location": "18:8705661-8832778", "ensembl_id": "ENSG00000168502" } } }, "hgnc_date_symbol_changed": "2014-02-20" }, "entity_type": "gene", "entity_name": "MTCL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30548255", "28283581" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "slowly progressive cerebellar ataxia", "mild intellectual disability", "seizures", "episodic pain", "spinocerebellar ataxia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ASP", "APG5", "hAPG5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:589", "gene_name": "autophagy related 5", "omim_gene": [ "604261" ], "alias_name": null, "gene_symbol": "ATG5", "hgnc_symbol": "ATG5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:106632351-106773666", "ensembl_id": "ENSG00000057663" } }, "GRch38": { "90": { "location": "6:106045423-106325791", "ensembl_id": "ENSG00000057663" } } }, "hgnc_date_symbol_changed": "2005-09-11" }, "entity_type": "gene", "entity_name": "ATG5", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16625204", "26812546" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 25 MIM#617584" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IL18BPa" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5987", "gene_name": "interleukin 18 binding protein", "omim_gene": [ "604113" ], "alias_name": [ "MC51L-53L-54L homolog gene product" ], "gene_symbol": "IL18BP", "hgnc_symbol": "IL18BP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:71709587-71716761", "ensembl_id": "ENSG00000137496" } }, "GRch38": { "90": { "location": "11:71998541-72005715", "ensembl_id": "ENSG00000137496" } } }, "hgnc_date_symbol_changed": "1999-05-21" }, "entity_type": "gene", "entity_name": "IL18BP", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31213488" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "{?Hepatitis, fulminant viral, susceptibility to}\t618549" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BRCACOX", "BRCOX", "THCCox" ], "biotype": "protein_coding", "hgnc_id": "HGNC:120", "gene_name": "acyl-CoA oxidase 2", "omim_gene": [ "601641" ], "alias_name": [ "trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase", "branched chain acyl-CoA oxidase" ], "gene_symbol": "ACOX2", "hgnc_symbol": "ACOX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:58490863-58523046", "ensembl_id": "ENSG00000168306" } }, "GRch38": { "90": { "location": "3:58505136-58537319", "ensembl_id": "ENSG00000168306" } } }, "hgnc_date_symbol_changed": "1998-09-17" }, "entity_type": "gene", "entity_name": "ACOX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27647924", "27884763", "29287774", "35395098" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Bile acid synthesis defect, congenital, 6, 617308" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSPC192", "FLJ10595", "FLJ21788", "LARS1", "LEUS", "RNTLS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6512", "gene_name": "leucyl-tRNA synthetase", "omim_gene": [ "151350" ], "alias_name": [ "leucine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "LARS", "hgnc_symbol": "LARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:145492601-145562223", "ensembl_id": "ENSG00000133706" } }, "GRch38": { "90": { "location": "5:146113038-146182660", "ensembl_id": "ENSG00000133706" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "LARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28774368", "30349989", "22607940", "32699352" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Infantile liver failure syndrome 1, MIM# 615438", "Seizures", "Intellectual disability", "Encephalopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0545" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23801", "gene_name": "signal induced proliferation associated 1 like 3", "omim_gene": [ "616655" ], "alias_name": null, "gene_symbol": "SIPA1L3", "hgnc_symbol": "SIPA1L3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:38397868-38699012", "ensembl_id": "ENSG00000105738" } }, "GRch38": { "90": { "location": "19:37907228-38208372", "ensembl_id": "ENSG00000105738" } } }, "hgnc_date_symbol_changed": "2003-12-11" }, "entity_type": "gene", "entity_name": "SIPA1L3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28951961", "27993984", "25804400" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Cataract 45 MIM#616851" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TAFI110", "TAFI95", "SL1", "MGC:39976" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11534", "gene_name": "TATA-box binding protein associated factor, RNA polymerase I subunit C", "omim_gene": [ "604905" ], "alias_name": null, "gene_symbol": "TAF1C", "hgnc_symbol": "TAF1C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:84211458-84220669", "ensembl_id": "ENSG00000103168" } }, "GRch38": { "90": { "location": "16:84177847-84187070", "ensembl_id": "ENSG00000103168" } } }, "hgnc_date_symbol_changed": "1999-01-18" }, "entity_type": "gene", "entity_name": "TAF1C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32779182" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO#0700092), TAF1C-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BRAP2", "RNF52", "IMP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1099", "gene_name": "BRCA1 associated protein", "omim_gene": [ "604986" ], "alias_name": [ "impedes mitogenic signal propagation", "galectin-2-binding protein" ], "gene_symbol": "BRAP", "hgnc_symbol": "BRAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:112079950-112123790", "ensembl_id": "ENSG00000089234" } }, "GRch38": { "90": { "location": "12:111642146-111685986", "ensembl_id": "ENSG00000089234" } } }, "hgnc_date_symbol_changed": "1998-09-17" }, "entity_type": "gene", "entity_name": "BRAP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30703135" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Pulmonary arterial hypertension" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "LKLF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6347", "gene_name": "Kruppel like factor 2", "omim_gene": [ "602016" ], "alias_name": [ "lung Kruppel-like factor" ], "gene_symbol": "KLF2", "hgnc_symbol": "KLF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:16435628-16438685", "ensembl_id": "ENSG00000127528" } }, "GRch38": { "90": { "location": "19:16324817-16327874", "ensembl_id": "ENSG00000127528" } } }, "hgnc_date_symbol_changed": "1999-12-14" }, "entity_type": "gene", "entity_name": "KLF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28188237" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Pulmonary arterial hypertension MONDO:0015924, KLF2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ21839", "CCP5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26147", "gene_name": "ATP/GTP binding protein like 5", "omim_gene": [ "615900" ], "alias_name": [ "cytosolic carboxypeptidase 5" ], "gene_symbol": "AGBL5", "hgnc_symbol": "AGBL5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:27265232-27293490", "ensembl_id": "ENSG00000084693" } }, "GRch38": { "90": { "location": "2:27042364-27070622", "ensembl_id": "ENSG00000084693" } } }, "hgnc_date_symbol_changed": "2007-03-27" }, "entity_type": "gene", "entity_name": "AGBL5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26720455", "26355662", "30925032" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Retinitis pigmentosa 75, MIM#\t617023" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12013", "gene_name": "tropomyosin 4", "omim_gene": [ "600317" ], "alias_name": null, "gene_symbol": "TPM4", "hgnc_symbol": "TPM4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:16177831-16213813", "ensembl_id": "ENSG00000167460" } }, "GRch38": { "90": { "location": "19:16067021-16103005", "ensembl_id": "ENSG00000167460" } } }, "hgnc_date_symbol_changed": "1991-07-18" }, "entity_type": "gene", "entity_name": "TPM4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28134622", "31249973", "21153663" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Bleeding disorder, platelet-type, 25, MIM# 620486" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ASV", "c-src" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11283", "gene_name": "SRC proto-oncogene, non-receptor tyrosine kinase", "omim_gene": [ "190090" ], "alias_name": null, "gene_symbol": "SRC", "hgnc_symbol": "SRC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:35973088-36034453", "ensembl_id": "ENSG00000197122" } }, "GRch38": { "90": { "location": "20:37344685-37406050", "ensembl_id": "ENSG00000197122" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "SRC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31204551", "26936507" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Thrombocytopaenia 6, MIM#\t616937" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:32689", "gene_name": "schlafen family member 14", "omim_gene": [ "614958" ], "alias_name": null, "gene_symbol": "SLFN14", "hgnc_symbol": "SLFN14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:33875144-33885117", "ensembl_id": "ENSG00000236320" } }, "GRch38": { "90": { "location": "17:35548125-35558098", "ensembl_id": "ENSG00000236320" } } }, "hgnc_date_symbol_changed": "2006-04-05" }, "entity_type": "gene", "entity_name": "SLFN14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26280575", "26769223" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Bleeding disorder, platelet-type, 20, MIM#\t616913" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DEP1", "HPTPeta", "CD148" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9673", "gene_name": "protein tyrosine phosphatase, receptor type J", "omim_gene": [ "600925" ], "alias_name": null, "gene_symbol": "PTPRJ", "hgnc_symbol": "PTPRJ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:48002113-48189670", "ensembl_id": "ENSG00000149177" } }, "GRch38": { "90": { "location": "11:47980558-48170841", "ensembl_id": "ENSG00000149177" } } }, "hgnc_date_symbol_changed": "1994-09-14" }, "entity_type": "gene", "entity_name": "PTPRJ", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30591527" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Thrombocytopenia 10, MIM# 620484" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "COX1", "PGHS-1", "PTGHS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9604", "gene_name": "prostaglandin-endoperoxide synthase 1", "omim_gene": [ "176805" ], "alias_name": [ "cyclooxygenase-1" ], "gene_symbol": "PTGS1", "hgnc_symbol": "PTGS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:125132824-125157982", "ensembl_id": "ENSG00000095303" } }, "GRch38": { "90": { "location": "9:122370530-122395703", "ensembl_id": "ENSG00000095303" } } }, "hgnc_date_symbol_changed": "1992-10-27" }, "entity_type": "gene", "entity_name": "PTGS1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32299908", "11442478", "27629384", "8562397" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Platelet-type bleeding disorder 12 MONDO:0011588" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PKACg" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9382", "gene_name": "protein kinase cAMP-activated catalytic subunit gamma", "omim_gene": [ "176893" ], "alias_name": null, "gene_symbol": "PRKACG", "hgnc_symbol": "PRKACG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:71627469-71629039", "ensembl_id": "ENSG00000165059" } }, "GRch38": { "90": { "location": "9:69012529-69014113", "ensembl_id": "ENSG00000165059" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PRKACG", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25061177", "30819905" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Bleeding disorder, platelet-type, 19, MIM# 616176" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "URK", "UPA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9052", "gene_name": "plasminogen activator, urokinase", "omim_gene": [ "191840" ], "alias_name": null, "gene_symbol": "PLAU", "hgnc_symbol": "PLAU", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:75668935-75677255", "ensembl_id": "ENSG00000122861" } }, "GRch38": { "90": { "location": "10:73909177-73917497", "ensembl_id": "ENSG00000122861" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PLAU", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20007542" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Quebec platelet disorder, MIM#\t601709" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AFURS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24113", "gene_name": "ATPase 13A3", "omim_gene": [ "610232" ], "alias_name": [ "ATPase family homolog up regulated in senescence cells" ], "gene_symbol": "ATP13A3", "hgnc_symbol": "ATP13A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:194123401-194219093", "ensembl_id": "ENSG00000133657" } }, "GRch38": { "90": { "location": "3:194402672-194498364", "ensembl_id": "ENSG00000133657" } } }, "hgnc_date_symbol_changed": "2005-01-12" }, "entity_type": "gene", "entity_name": "ATP13A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31798832", "30679663", "29650961" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Primary pulmonary hypertension 5, MIM#265400" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GTT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18063", "gene_name": "StAR related lipid transfer domain containing 7", "omim_gene": [ "616712" ], "alias_name": null, "gene_symbol": "STARD7", "hgnc_symbol": "STARD7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:96850597-96874563", "ensembl_id": "ENSG00000084090" } }, "GRch38": { "90": { "location": "2:96184859-96208825", "ensembl_id": "ENSG00000084090" } } }, "hgnc_date_symbol_changed": "2002-01-24" }, "entity_type": "gene", "entity_name": "STARD7", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "11701600", "24114805", "31664034" ], "evidence": [ "Expert Review Removed", "Expert list" ], "phenotypes": [ "Epilepsy, familial adult myoclonic, 2, 607876" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "STR" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MCLC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29675", "gene_name": "chloride channel CLIC like 1", "omim_gene": [ "617539" ], "alias_name": [ "Mid1-related chloride channel (yeast)" ], "gene_symbol": "CLCC1", "hgnc_symbol": "CLCC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:109472130-109506111", "ensembl_id": "ENSG00000121940" } }, "GRch38": { "90": { "location": "1:108929508-108963457", "ensembl_id": "ENSG00000121940" } } }, "hgnc_date_symbol_changed": "2005-08-04" }, "entity_type": "gene", "entity_name": "CLCC1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30157172" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Retinitis pigmentosa 32, MIM# 609913" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "cPLA2-alpha" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9035", "gene_name": "phospholipase A2 group IVA", "omim_gene": [ "600522" ], "alias_name": null, "gene_symbol": "PLA2G4A", "hgnc_symbol": "PLA2G4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:186798085-186958113", "ensembl_id": "ENSG00000116711" } }, "GRch38": { "90": { "location": "1:186828953-186988981", "ensembl_id": "ENSG00000116711" } } }, "hgnc_date_symbol_changed": "1994-11-30" }, "entity_type": "gene", "entity_name": "PLA2G4A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "18451993", "25102815", "23268370" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6196", "gene_name": "jumonji and AT-rich interaction domain containing 2", "omim_gene": [ "601594" ], "alias_name": null, "gene_symbol": "JARID2", "hgnc_symbol": "JARID2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:15246527-15522252", "ensembl_id": "ENSG00000008083" } }, "GRch38": { "90": { "location": "6:15246296-15522040", "ensembl_id": "ENSG00000008083" } } }, "hgnc_date_symbol_changed": "2004-01-30" }, "entity_type": "gene", "entity_name": "JARID2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23294540", "33077894" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9056", "gene_name": "phospholipase C beta 3", "omim_gene": [ "600230" ], "alias_name": null, "gene_symbol": "PLCB3", "hgnc_symbol": "PLCB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64018995-64036622", "ensembl_id": "ENSG00000149782" } }, "GRch38": { "90": { "location": "11:64251523-64269150", "ensembl_id": "ENSG00000149782" } } }, "hgnc_date_symbol_changed": "1994-11-17" }, "entity_type": "gene", "entity_name": "PLCB3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29122926" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Spondylometaphyseal dysplasia with corneal dystrophy, MIM#\t618961" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DAPPER1", "THYEX3", "HDPR1", "DAPPER", "FRODO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17748", "gene_name": "dishevelled binding antagonist of beta catenin 1", "omim_gene": [ "607861" ], "alias_name": null, "gene_symbol": "DACT1", "hgnc_symbol": "DACT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:59100685-59115039", "ensembl_id": "ENSG00000165617" } }, "GRch38": { "90": { "location": "14:58633967-58648321", "ensembl_id": "ENSG00000165617" } } }, "hgnc_date_symbol_changed": "2003-01-15" }, "entity_type": "gene", "entity_name": "DACT1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 28054444", "22610794", "19701191" ], "evidence": [ "Expert Review Amber", "NHS GMS" ], "phenotypes": [ "Townes-Brocks syndrome 2 (OMIM #617466)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "G6b", "NG31", "G6b-B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13937", "gene_name": "megakaryocyte and platelet inhibitory receptor G6b", "omim_gene": [ "606520" ], "alias_name": null, "gene_symbol": "MPIG6B", "hgnc_symbol": "MPIG6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31686371-31694491", "ensembl_id": "ENSG00000204420" } }, "GRch38": { "90": { "location": "6:31718594-31726714", "ensembl_id": "ENSG00000204420" } } }, "hgnc_date_symbol_changed": "2017-01-04" }, "entity_type": "gene", "entity_name": "MPIG6B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31276734", "29898956", "27743390" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Thrombocytopenia, anemia, and myelofibrosis, MIM#\t617441" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ38979" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30452", "gene_name": "family with sequence similarity 92 member A", "omim_gene": [ "617273" ], "alias_name": null, "gene_symbol": "FAM92A", "hgnc_symbol": "FAM92A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:94710789-94743755", "ensembl_id": "ENSG00000188343" } }, "GRch38": { "90": { "location": "8:93698561-93731527", "ensembl_id": "ENSG00000188343" } } }, "hgnc_date_symbol_changed": "2016-09-30" }, "entity_type": "gene", "entity_name": "FAM92A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30395363" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Polydactyly, postaxial, type A9, MIM#\t618219" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp686F0372", "MGC34713" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28532", "gene_name": "KIAA0825", "omim_gene": [ "617266" ], "alias_name": null, "gene_symbol": "KIAA0825", "hgnc_symbol": "KIAA0825", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:93488671-93954309", "ensembl_id": "ENSG00000185261" } }, "GRch38": { "90": { "location": "5:94152966-94618597", "ensembl_id": "ENSG00000185261" } } }, "hgnc_date_symbol_changed": "2011-02-23" }, "entity_type": "gene", "entity_name": "KIAA0825", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32147526", "30982135" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Polydactyly, postaxial, type A10, MIM#\t618498" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NARS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7643", "gene_name": "asparaginyl-tRNA synthetase", "omim_gene": [ "108410" ], "alias_name": [ "asparagine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "NARS", "hgnc_symbol": "NARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:55267888-55289445", "ensembl_id": "ENSG00000134440" } }, "GRch38": { "90": { "location": "18:57600656-57622213", "ensembl_id": "ENSG00000134440" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "NARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32738225", "38495304", "38769024" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091", "Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092", "Hereditary peripheral neuropathy, MONDO:0020127, NARS-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10496" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25536", "gene_name": "DALR anticodon binding domain containing 3", "omim_gene": null, "alias_name": null, "gene_symbol": "DALRD3", "hgnc_symbol": "DALRD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49052921-49059726", "ensembl_id": "ENSG00000178149" } }, "GRch38": { "90": { "location": "3:49015488-49022293", "ensembl_id": "ENSG00000178149" } } }, "hgnc_date_symbol_changed": "2005-01-10" }, "entity_type": "gene", "entity_name": "DALRD3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32427860", "39482881" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy, 86 MONDO:0030054" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC14126" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28209", "gene_name": "centrosomal protein 19", "omim_gene": [ "615586" ], "alias_name": null, "gene_symbol": "CEP19", "hgnc_symbol": "CEP19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:196433148-196439164", "ensembl_id": "ENSG00000174007" } }, "GRch38": { "90": { "location": "3:196706277-196712293", "ensembl_id": "ENSG00000174007" } } }, "hgnc_date_symbol_changed": "2011-05-06" }, "entity_type": "gene", "entity_name": "CEP19", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29127258", "24268657" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Morbid obesity and spermatogenic failure MIM#615703", "Bardet-Biedl syndorme" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TIP-2", "Hs.6454", "GIPC", "SEMCAP", "GLUT1CBP", "SYNECTIN", "NIP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1226", "gene_name": "GIPC PDZ domain containing family member 1", "omim_gene": [ "605072" ], "alias_name": null, "gene_symbol": "GIPC1", "hgnc_symbol": "GIPC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:14588572-14606944", "ensembl_id": "ENSG00000123159" } }, "GRch38": { "90": { "location": "19:14477760-14496149", "ensembl_id": "ENSG00000123159" } } }, "hgnc_date_symbol_changed": "2005-06-28" }, "entity_type": "gene", "entity_name": "GIPC1", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32413282" ], "evidence": [ "Expert Review Removed", "Literature" ], "phenotypes": [ "Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "5'UTR", "STR" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ARFL3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:694", "gene_name": "ADP ribosylation factor like GTPase 3", "omim_gene": [ "604695" ], "alias_name": null, "gene_symbol": "ARL3", "hgnc_symbol": "ARL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:104433488-104474164", "ensembl_id": "ENSG00000138175" } }, "GRch38": { "90": { "location": "10:102673731-102714407", "ensembl_id": "ENSG00000138175" } } }, "hgnc_date_symbol_changed": "1994-04-14" }, "entity_type": "gene", "entity_name": "ARL3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30269812", "16565502", "26964041", "30932721" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Joubert syndrome 35 MIM#618161", "Retinitis pigmentosa 83 MIM#618173" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6948", "gene_name": "minichromosome maintenance complex component 5", "omim_gene": [ "602696" ], "alias_name": null, "gene_symbol": "MCM5", "hgnc_symbol": "MCM5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:35796056-35821423", "ensembl_id": "ENSG00000100297" } }, "GRch38": { "90": { "location": "22:35400063-35425430", "ensembl_id": "ENSG00000100297" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "MCM5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28198391" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Meier-Gorlin syndrome 8 (MIM#617564)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP434J212", "KIAA0449" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29442", "gene_name": "kinesin family member 21B", "omim_gene": [ "608322" ], "alias_name": null, "gene_symbol": "KIF21B", "hgnc_symbol": "KIF21B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:200938520-200992828", "ensembl_id": "ENSG00000116852" } }, "GRch38": { "90": { "location": "1:200969390-201023700", "ensembl_id": "ENSG00000116852" } } }, "hgnc_date_symbol_changed": "2004-11-10" }, "entity_type": "gene", "entity_name": "KIF21B", "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": [ "32415109" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, KIF21B-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1055" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29183", "gene_name": "TBC1 domain family member 2B", "omim_gene": null, "alias_name": null, "gene_symbol": "TBC1D2B", "hgnc_symbol": "TBC1D2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:78276378-78370066", "ensembl_id": "ENSG00000167202" } }, "GRch38": { "90": { "location": "15:77984036-78077724", "ensembl_id": "ENSG00000167202" } } }, "hgnc_date_symbol_changed": "2005-11-29" }, "entity_type": "gene", "entity_name": "TBC1D2B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32623794" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323", "Global developmental delay", "Intellectual disability", "Seizures", "Gingival overgrowth", "Behavioral abnormality", "Abnormality of the mandible", "Abnormality of brain morphology", "Abnormality of the eye", "Hearing abnormality" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ11026", "Sec5p" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24968", "gene_name": "exocyst complex component 2", "omim_gene": [ "615329" ], "alias_name": null, "gene_symbol": "EXOC2", "hgnc_symbol": "EXOC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:485133-693117", "ensembl_id": "ENSG00000112685" } }, "GRch38": { "90": { "location": "6:485133-693111", "ensembl_id": "ENSG00000112685" } } }, "hgnc_date_symbol_changed": "2005-11-01" }, "entity_type": "gene", "entity_name": "EXOC2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32639540" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306", "Global developmental delay", "Intellectual disability", "Abnormality of the face", "Abnormality of brain morphology" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ33839" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28033", "gene_name": "coiled-coil domain containing 174", "omim_gene": [ "616735" ], "alias_name": null, "gene_symbol": "CCDC174", "hgnc_symbol": "CCDC174", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:14693271-14714166", "ensembl_id": "ENSG00000154781" } }, "GRch38": { "90": { "location": "3:14651746-14672659", "ensembl_id": "ENSG00000154781" } } }, "hgnc_date_symbol_changed": "2012-09-20" }, "entity_type": "gene", "entity_name": "CCDC174", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26358778" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] } ] }