Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=57
{ "count": 35523, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=58", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=56", "results": [ { "gene_data": { "alias": [ "FLJ14624", "FLJ22153" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25904", "gene_name": "transmembrane and tetratricopeptide repeat containing 4", "omim_gene": null, "alias_name": null, "gene_symbol": "TMTC4", "hgnc_symbol": "TMTC4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:101256181-101327347", "ensembl_id": "ENSG00000125247" } }, "GRch38": { "90": { "location": "13:100603927-100675093", "ensembl_id": "ENSG00000125247" } } }, "hgnc_date_symbol_changed": "2006-01-06" }, "entity_type": "gene", "entity_name": "TMTC4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37943620" ], "evidence": [ "Literature" ], "phenotypes": [ "hearing loss, autosomal recessive MONDO:0019588" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "MGC33630", "CaM-IP4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28506", "gene_name": "WD repeat domain 66", "omim_gene": null, "alias_name": null, "gene_symbol": "WDR66", "hgnc_symbol": "WDR66", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:122355768-122441833", "ensembl_id": "ENSG00000158023" } }, "GRch38": { "90": { "location": "12:121917862-122003927", "ensembl_id": "ENSG00000158023" } } }, "hgnc_date_symbol_changed": "2005-05-26" }, "entity_type": "gene", "entity_name": "WDR66", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30122540", "30122541" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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-ALPHA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24071", "gene_name": "tubulin alpha 3d", "omim_gene": null, "alias_name": [ "alpha-tubulin isotype H2-alpha" ], "gene_symbol": "TUBA3D", "hgnc_symbol": "TUBA3D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:132233666-132240507", "ensembl_id": "ENSG00000075886" } }, "GRch38": { "90": { "location": "2:131476093-131482934", "ensembl_id": "ENSG00000075886" } } }, "hgnc_date_symbol_changed": "2007-02-12" }, "entity_type": "gene", "entity_name": "TUBA3D", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29051577" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "keratoconus MONDO:0015486" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "ZFYVE23", "FLJ39957", "FLJ00274" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19117", "gene_name": "FYVE, RhoGEF and PH domain containing 5", "omim_gene": [ "614788" ], "alias_name": null, "gene_symbol": "FGD5", "hgnc_symbol": "FGD5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:14860469-14975895", "ensembl_id": "ENSG00000154783" } }, "GRch38": { "90": { "location": "3:14810853-14934565", "ensembl_id": "ENSG00000154783" } } }, "hgnc_date_symbol_changed": "2003-11-25" }, "entity_type": "gene", "entity_name": "FGD5", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41574350", "41199744", "32037394", "30232381" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Congenital heart disease - MONDO:0005453, FGD5-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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "RFLAT-1", "BTEB3", "NSLP1", "FKLF-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13672", "gene_name": "Kruppel like factor 13", "omim_gene": [ "605328" ], "alias_name": null, "gene_symbol": "KLF13", "hgnc_symbol": "KLF13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:31619058-31727868", "ensembl_id": "ENSG00000169926" } }, "GRch38": { "90": { "location": "15:31326855-31435665", "ensembl_id": "ENSG00000169926" } } }, "hgnc_date_symbol_changed": "2000-09-28" }, "entity_type": "gene", "entity_name": "KLF13", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33215447", "35369534", "32293321", "36346048", "41201692" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Congenital heart disease MONDO:0005453 - KLF13-related", "Dilated cardiomyopathy - MONDO:0005021, KLF13-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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:2551", "gene_name": "cullin 1", "omim_gene": [ "603134" ], "alias_name": null, "gene_symbol": "CUL1", "hgnc_symbol": "CUL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:148395006-148498128", "ensembl_id": "ENSG00000055130" } }, "GRch38": { "90": { "location": "7:148697914-148801036", "ensembl_id": "ENSG00000055130" } } }, "hgnc_date_symbol_changed": "1998-10-29" }, "entity_type": "gene", "entity_name": "CUL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 41189326" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, CUL1-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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:14934", "gene_name": "sirtuin 6", "omim_gene": [ "606211" ], "alias_name": null, "gene_symbol": "SIRT6", "hgnc_symbol": "SIRT6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:4174106-4182601", "ensembl_id": "ENSG00000077463" } }, "GRch38": { "90": { "location": "19:4174109-4182604", "ensembl_id": "ENSG00000077463" } } }, "hgnc_date_symbol_changed": "2001-03-20" }, "entity_type": "gene", "entity_name": "SIRT6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29555651", "30135584" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "syndromic disease, MONDO:0002254, SIRT6-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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "KIAA1762", "KIAA1056", "ZFH-5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20152", "gene_name": "zinc finger homeobox 2", "omim_gene": null, "alias_name": null, "gene_symbol": "ZFHX2", "hgnc_symbol": "ZFHX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23990066-24025401", "ensembl_id": "ENSG00000136367" } }, "GRch38": { "90": { "location": "14:23520855-23556192", "ensembl_id": "ENSG00000136367" } } }, "hgnc_date_symbol_changed": "2002-12-18" }, "entity_type": "gene", "entity_name": "ZFHX2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29253101" ], "evidence": [ "Literature" ], "phenotypes": [ "congenital insensitivity to pain syndrome, Marsili type MONDO:0958106" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "FLJ11142" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25631", "gene_name": "cilia and flagella associated protein 44", "omim_gene": [ "617559" ], "alias_name": null, "gene_symbol": "CFAP44", "hgnc_symbol": "CFAP44", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:113005777-113160457", "ensembl_id": "ENSG00000206530" } }, "GRch38": { "90": { "location": "3:113286947-113441610", "ensembl_id": "ENSG00000206530" } } }, "hgnc_date_symbol_changed": "2014-07-18" }, "entity_type": "gene", "entity_name": "CFAP44", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28552195", "29277146", "29449551" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:2088", "gene_name": "caseinolytic mitochondrial matrix peptidase chaperone subunit", "omim_gene": [ "615611" ], "alias_name": null, "gene_symbol": "CLPX", "hgnc_symbol": "CLPX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:65440557-65477680", "ensembl_id": "ENSG00000166855" } }, "GRch38": { "90": { "location": "15:65148219-65185342", "ensembl_id": "ENSG00000166855" } } }, "hgnc_date_symbol_changed": "2000-03-14" }, "entity_type": "gene", "entity_name": "CLPX", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28874591", "25957689" ], "evidence": [ "Literature" ], "phenotypes": [ "protoporphyria, erythropoietic, 2 MONDO:0060729" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "FLJ42177", "FLJ25791", "dJ70A9.1", "MGC26954" ], "biotype": "protein_coding", "hgnc_id": "HGNC:33814", "gene_name": "adenylate kinase 9", "omim_gene": [ "615358" ], "alias_name": null, "gene_symbol": "AK9", "hgnc_symbol": "AK9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:109814059-110012420", "ensembl_id": "ENSG00000155085" } }, "GRch38": { "90": { "location": "6:109492856-109691217", "ensembl_id": "ENSG00000155085" } } }, "hgnc_date_symbol_changed": "2013-04-29" }, "entity_type": "gene", "entity_name": "AK9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37713809" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "SEC84", "EXO84", "Exo84p" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24659", "gene_name": "exocyst complex component 8", "omim_gene": [ "615283" ], "alias_name": null, "gene_symbol": "EXOC8", "hgnc_symbol": "EXOC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:231468480-231473598", "ensembl_id": "ENSG00000116903" } }, "GRch38": { "90": { "location": "1:231332753-231337852", "ensembl_id": "ENSG00000116903" } } }, "hgnc_date_symbol_changed": "2004-01-09" }, "entity_type": "gene", "entity_name": "EXOC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32103185", "22700954", "36344539", "35460391" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy MONDO:0033662" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "MGC4083", "HsT1601" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20776", "gene_name": "tubulin beta 6 class V", "omim_gene": [ "615103" ], "alias_name": [ "tubulin beta MGC4083", "class V beta-tubulin" ], "gene_symbol": "TUBB6", "hgnc_symbol": "TUBB6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:12307668-12344319", "ensembl_id": "ENSG00000176014" } }, "GRch38": { "90": { "location": "18:12307669-12344320", "ensembl_id": "ENSG00000176014" } } }, "hgnc_date_symbol_changed": "2004-11-22" }, "entity_type": "gene", "entity_name": "TUBB6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29016863" ], "evidence": [ "Literature" ], "phenotypes": [ "facial palsy, congenital, with ptosis and velopharyngeal dysfunction MONDO:0060589" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "FLJ21522", "MGC16817" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21297", "gene_name": "EPS8 like 3", "omim_gene": [ "614989" ], "alias_name": null, "gene_symbol": "EPS8L3", "hgnc_symbol": "EPS8L3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:110292702-110306649", "ensembl_id": "ENSG00000198758" } }, "GRch38": { "90": { "location": "1:109750080-109764027", "ensembl_id": "ENSG00000198758" } } }, "hgnc_date_symbol_changed": "2003-06-05" }, "entity_type": "gene", "entity_name": "EPS8L3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23099647" ], "evidence": [ "Literature" ], "phenotypes": [ "Marie Unna hereditary hypotrichosis MONDO:0018631" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "hsa-mir-2861" ], "biotype": null, "hgnc_id": "HGNC:38221", "gene_name": "microRNA 2861", "omim_gene": [ "613405" ], "alias_name": null, "gene_symbol": "MIR2861", "hgnc_symbol": "MIR2861", "hgnc_release": "2017-11-03", "ensembl_genes": {}, "hgnc_date_symbol_changed": "2010-04-30" }, "entity_type": "gene", "entity_name": "MIR2861", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19920351" ], "evidence": [ "Literature" ], "phenotypes": [ "osteoporosis MONDO:0005298" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:8729", "gene_name": "proliferating cell nuclear antigen", "omim_gene": [ "176740" ], "alias_name": null, "gene_symbol": "PCNA", "hgnc_symbol": "PCNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:5095599-5107272", "ensembl_id": "ENSG00000132646" } }, "GRch38": { "90": { "location": "20:5114953-5126626", "ensembl_id": "ENSG00000132646" } } }, "hgnc_date_symbol_changed": "1990-01-15" }, "entity_type": "gene", "entity_name": "PCNA", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24911150, 33426167, 36990216" ], "evidence": [ "Expert Review Amber", "ClinGen" ], "phenotypes": [ "hereditary ataxia MONDO:0100309" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "FLJ40162" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24753", "gene_name": "potassium channel tetramerization domain containing 19", "omim_gene": null, "alias_name": null, "gene_symbol": "KCTD19", "hgnc_symbol": "KCTD19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67323331-67360666", "ensembl_id": "ENSG00000168676" } }, "GRch38": { "90": { "location": "16:67289428-67326763", "ensembl_id": "ENSG00000168676" } } }, "hgnc_date_symbol_changed": "2005-02-08" }, "entity_type": "gene", "entity_name": "KCTD19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37192818", "37485353", "39318590", "40410542", "41221840" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Infertility disorder, MONDO:0005047, KCTD19-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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "INAC", "HINAC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17537", "gene_name": "acid sensing ion channel subunit family member 5", "omim_gene": [ "616693" ], "alias_name": null, "gene_symbol": "ASIC5", "hgnc_symbol": "ASIC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:156750881-156787425", "ensembl_id": "ENSG00000256394" } }, "GRch38": { "90": { "location": "4:155829729-155866273", "ensembl_id": "ENSG00000256394" } } }, "hgnc_date_symbol_changed": "2012-03-02" }, "entity_type": "gene", "entity_name": "ASIC5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 34395479" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Unexplained recurrent pregnancy loss" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "SPP24" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11256", "gene_name": "secreted phosphoprotein 2", "omim_gene": [ "602637" ], "alias_name": null, "gene_symbol": "SPP2", "hgnc_symbol": "SPP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:234959323-234985778", "ensembl_id": "ENSG00000072080" } }, "GRch38": { "90": { "location": "2:234050679-234077134", "ensembl_id": "ENSG00000072080" } } }, "hgnc_date_symbol_changed": "1996-08-21" }, "entity_type": "gene", "entity_name": "SPP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26459573" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Red", "Expert Review Red", "Royal Melbourne Hospital" ], "phenotypes": [ "Autosomal dominant retinitis pigmentosa" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "PC5", "PC6", "SPC6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8747", "gene_name": "proprotein convertase subtilisin/kexin type 5", "omim_gene": [ "600488" ], "alias_name": null, "gene_symbol": "PCSK5", "hgnc_symbol": "PCSK5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:78505560-78977255", "ensembl_id": "ENSG00000099139" } }, "GRch38": { "90": { "location": "9:75890644-76362339", "ensembl_id": "ENSG00000099139" } } }, "hgnc_date_symbol_changed": "1993-10-19" }, "entity_type": "gene", "entity_name": "PCSK5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen", "ClinGen" ], "phenotypes": [ "Syndromic congenital heart disease, MONDO:0100614" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:10589", "gene_name": "sodium voltage-gated channel beta subunit 2", "omim_gene": [ "601327" ], "alias_name": null, "gene_symbol": "SCN2B", "hgnc_symbol": "SCN2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118032666-118047388", "ensembl_id": "ENSG00000149575" } }, "GRch38": { "90": { "location": "11:118161951-118176673", "ensembl_id": "ENSG00000149575" } } }, "hgnc_date_symbol_changed": "1988-11-28" }, "entity_type": "gene", "entity_name": "SCN2B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen", "ClinGen" ], "phenotypes": [ "Brugada syndrome, MONDO:0015263" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "SLAP", "KIAA1601" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16643", "gene_name": "sarcolemma associated protein", "omim_gene": [ "602701" ], "alias_name": [ "Sarcolemmal-associated protein" ], "gene_symbol": "SLMAP", "hgnc_symbol": "SLMAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:57741177-57914895", "ensembl_id": "ENSG00000163681" } }, "GRch38": { "90": { "location": "3:57755450-57929168", "ensembl_id": "ENSG00000163681" } } }, "hgnc_date_symbol_changed": "2001-12-03" }, "entity_type": "gene", "entity_name": "SLMAP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen", "ClinGen" ], "phenotypes": [ "Brugada syndrome, MONDO:0015263" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "HFH-11", "trident", "HNF-3", "INS-1", "MPP2", "MPHOSPH2", "TGT3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3818", "gene_name": "forkhead box M1", "omim_gene": [ "602341" ], "alias_name": [ "M-phase phosphoprotein 2" ], "gene_symbol": "FOXM1", "hgnc_symbol": "FOXM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:2966847-2986206", "ensembl_id": "ENSG00000111206" } }, "GRch38": { "90": { "location": "12:2857681-2877155", "ensembl_id": "ENSG00000111206" } } }, "hgnc_date_symbol_changed": "1997-07-25" }, "entity_type": "gene", "entity_name": "FOXM1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38969938" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Moyamoya disease, MONDO:0016820" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "PPP1R13A", "ASPP2", "53BP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12000", "gene_name": "tumor protein p53 binding protein 2", "omim_gene": [ "602143" ], "alias_name": null, "gene_symbol": "TP53BP2", "hgnc_symbol": "TP53BP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:223967601-224033674", "ensembl_id": "ENSG00000143514" } }, "GRch38": { "90": { "location": "1:223779899-223845972", "ensembl_id": "ENSG00000143514" } } }, "hgnc_date_symbol_changed": "1997-06-24" }, "entity_type": "gene", "entity_name": "TP53BP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Open-angle glaucoma MONDO:0005338" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:9051", "gene_name": "plasminogen activator, tissue type", "omim_gene": [ "173370" ], "alias_name": null, "gene_symbol": "PLAT", "hgnc_symbol": "PLAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:42032236-42065242", "ensembl_id": "ENSG00000104368" } }, "GRch38": { "90": { "location": "8:42175233-42207724", "ensembl_id": "ENSG00000104368" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PLAT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen", "ClinGen" ], "phenotypes": [ "Thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0012872" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "MiRP1", "LQT6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6242", "gene_name": "potassium voltage-gated channel subfamily E regulatory subunit 2", "omim_gene": [ "603796" ], "alias_name": null, "gene_symbol": "KCNE2", "hgnc_symbol": "KCNE2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:35736323-35743688", "ensembl_id": "ENSG00000159197" } }, "GRch38": { "90": { "location": "21:34364024-34371389", "ensembl_id": "ENSG00000159197" } } }, "hgnc_date_symbol_changed": "1999-05-11" }, "entity_type": "gene", "entity_name": "KCNE2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31983240", "28794082" ], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Red", "Expert Review Red" ], "phenotypes": [ "Long QT syndrome" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "KIAA0803", "AKAP350", "AKAP450", "CG-NAP", "YOTIAO", "HYPERION", "PRKA9", "MU-RMS-40.16A", "PPP1R45", "LQT11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:379", "gene_name": "A-kinase anchoring protein 9", "omim_gene": [ "604001" ], "alias_name": [ "A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao" ], "gene_symbol": "AKAP9", "hgnc_symbol": "AKAP9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:91570181-91739987", "ensembl_id": "ENSG00000127914" } }, "GRch38": { "90": { "location": "7:91940867-92110673", "ensembl_id": "ENSG00000127914" } } }, "hgnc_date_symbol_changed": "1999-09-16" }, "entity_type": "gene", "entity_name": "AKAP9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31983240" ], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Red" ], "phenotypes": [ "long QT syndrome" ], "mode_of_inheritance": "Unknown", "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:15534", "gene_name": "tektin 1", "omim_gene": [ "609002" ], "alias_name": null, "gene_symbol": "TEKT1", "hgnc_symbol": "TEKT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:6692452-6735080", "ensembl_id": "ENSG00000167858" } }, "GRch38": { "90": { "location": "17:6789133-6831761", "ensembl_id": "ENSG00000167858" } } }, "hgnc_date_symbol_changed": "2001-04-25" }, "entity_type": "gene", "entity_name": "TEKT1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "ClinGen", "Expert Review Red", "Expert Review Red", "ClinGen" ], "phenotypes": [ "Primary ciliary dyskinesia, MONDO:0016575" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "FLJ32864" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20091", "gene_name": "adenylate kinase 7", "omim_gene": [ "615364" ], "alias_name": null, "gene_symbol": "AK7", "hgnc_symbol": "AK7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:96858448-96955764", "ensembl_id": "ENSG00000140057" } }, "GRch38": { "90": { "location": "14:96392111-96489427", "ensembl_id": "ENSG00000140057" } } }, "hgnc_date_symbol_changed": "2002-12-17" }, "entity_type": "gene", "entity_name": "AK7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen", "ClinGen" ], "phenotypes": [ "Primary ciliary dyskinesia, MONDO:0016575" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "p92", "FLJ12386", "ADVIL", "DOC6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14188", "gene_name": "advillin", "omim_gene": [ "613397" ], "alias_name": null, "gene_symbol": "AVIL", "hgnc_symbol": "AVIL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:58191159-58212487", "ensembl_id": "ENSG00000135407" } }, "GRch38": { "90": { "location": "12:57797376-57818704", "ensembl_id": "ENSG00000135407" } } }, "hgnc_date_symbol_changed": "2002-09-02" }, "entity_type": "gene", "entity_name": "AVIL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29058690" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Nephrotic syndrome, type 21 MONDO:0032826" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "SAMP32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14967", "gene_name": "sperm acrosome associated 1", "omim_gene": [ "612739" ], "alias_name": null, "gene_symbol": "SPACA1", "hgnc_symbol": "SPACA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:88757507-88776550", "ensembl_id": "ENSG00000118434" } }, "GRch38": { "90": { "location": "6:88047789-88066832", "ensembl_id": "ENSG00000118434" } } }, "hgnc_date_symbol_changed": "2001-04-05" }, "entity_type": "gene", "entity_name": "SPACA1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34172998", "22949614" ], "evidence": [ "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "EST90625" ], "biotype": "protein_coding", "hgnc_id": "HGNC:35", "gene_name": "ATP binding cassette subfamily A member 5", "omim_gene": [ "612503" ], "alias_name": null, "gene_symbol": "ABCA5", "hgnc_symbol": "ABCA5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:67240452-67323385", "ensembl_id": "ENSG00000154265" } }, "GRch38": { "90": { "location": "17:69244311-69327244", "ensembl_id": "ENSG00000154265" } } }, "hgnc_date_symbol_changed": "1999-10-26" }, "entity_type": "gene", "entity_name": "ABCA5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24831815" ], "evidence": [ "Literature" ], "phenotypes": [ "gingival fibromatosis-hypertrichosis syndrome MONDO:0007610" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "DIPB", "MC7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19016", "gene_name": "tripartite motif containing 44", "omim_gene": [ "612298" ], "alias_name": null, "gene_symbol": "TRIM44", "hgnc_symbol": "TRIM44", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:35684353-35829775", "ensembl_id": "ENSG00000166326" } }, "GRch38": { "90": { "location": "11:35662805-35818007", "ensembl_id": "ENSG00000166326" } } }, "hgnc_date_symbol_changed": "2003-01-03" }, "entity_type": "gene", "entity_name": "TRIM44", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26394807" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Aniridia 3 MONDO:0014938" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "FLJ23412", "VNUT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16192", "gene_name": "solute carrier family 17 member 9", "omim_gene": [ "612107" ], "alias_name": null, "gene_symbol": "SLC17A9", "hgnc_symbol": "SLC17A9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:61584052-61599949", "ensembl_id": "ENSG00000101194" } }, "GRch38": { "90": { "location": "20:62952647-62969585", "ensembl_id": "ENSG00000101194" } } }, "hgnc_date_symbol_changed": "2009-01-22" }, "entity_type": "gene", "entity_name": "SLC17A9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25180256", "25596766" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "disseminated superficial actinic porokeratosis MONDO:0019212" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "FLJ13111", "CENP-T" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25787", "gene_name": "centromere protein T", "omim_gene": [ "611510" ], "alias_name": null, "gene_symbol": "CENPT", "hgnc_symbol": "CENPT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67862060-67881714", "ensembl_id": "ENSG00000102901" } }, "GRch38": { "90": { "location": "16:67828157-67847811", "ensembl_id": "ENSG00000102901" } } }, "hgnc_date_symbol_changed": "2006-06-15" }, "entity_type": "gene", "entity_name": "CENPT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29228025" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "short stature and microcephaly with genital anomalies MONDO:0032875" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "KIAA0187" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23505", "gene_name": "BMS1, ribosome biogenesis factor", "omim_gene": [ "611448" ], "alias_name": null, "gene_symbol": "BMS1", "hgnc_symbol": "BMS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:43278249-43330385", "ensembl_id": "ENSG00000165733" } }, "GRch38": { "90": { "location": "10:42782801-42834937", "ensembl_id": "ENSG00000165733" } } }, "hgnc_date_symbol_changed": "2007-03-20" }, "entity_type": "gene", "entity_name": "BMS1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23785305" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "aplasia cutis congenita MONDO:0007145" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "STI2", "IFT139A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30761", "gene_name": "tetratricopeptide repeat domain 21A", "omim_gene": [ "611430" ], "alias_name": null, "gene_symbol": "TTC21A", "hgnc_symbol": "TTC21A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:39149152-39180394", "ensembl_id": "ENSG00000168026" } }, "GRch38": { "90": { "location": "3:39107704-39138903", "ensembl_id": "ENSG00000168026" } } }, "hgnc_date_symbol_changed": "2005-01-26" }, "entity_type": "gene", "entity_name": "TTC21A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30929735" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "dJ327J16", "PIG27" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2955", "gene_name": "dynein axonemal light chain 4", "omim_gene": [ "610565" ], "alias_name": null, "gene_symbol": "DNAL4", "hgnc_symbol": "DNAL4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:39174513-39190203", "ensembl_id": "ENSG00000100246" } }, "GRch38": { "90": { "location": "22:38778508-38794198", "ensembl_id": "ENSG00000100246" } } }, "hgnc_date_symbol_changed": "1999-10-19" }, "entity_type": "gene", "entity_name": "DNAL4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25098561", "25236653" ], "evidence": [ "Other", "Other" ], "phenotypes": [ "Mirror movements 3 MIM#616059" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "AAT1", "AAT1alpha", "SPATA26", "CaM-IP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24010", "gene_name": "MYCBP associated and testis expressed 1", "omim_gene": [ "609910" ], "alias_name": [ "AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26" ], "gene_symbol": "MAATS1", "hgnc_symbol": "MAATS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:119421869-119485949", "ensembl_id": "ENSG00000183833" } }, "GRch38": { "90": { "location": "3:119703022-119767102", "ensembl_id": "ENSG00000183833" } } }, "hgnc_date_symbol_changed": "2012-09-26" }, "entity_type": "gene", "entity_name": "MAATS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32161152" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "ELA2A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24609", "gene_name": "chymotrypsin like elastase family member 2A", "omim_gene": [ "609443" ], "alias_name": [ "elastase 2A" ], "gene_symbol": "CELA2A", "hgnc_symbol": "CELA2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:15783223-15798586", "ensembl_id": "ENSG00000142615" } }, "GRch38": { "90": { "location": "1:15456728-15472091", "ensembl_id": "ENSG00000142615" } } }, "hgnc_date_symbol_changed": "2009-05-05" }, "entity_type": "gene", "entity_name": "CELA2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31358993" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "abdominal obesity-metabolic syndrome 4 MONDO:0032837" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "RBCC728", "RNF98", "HAPRIN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16280", "gene_name": "tripartite motif containing 36", "omim_gene": [ "609317" ], "alias_name": [ "zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98" ], "gene_symbol": "TRIM36", "hgnc_symbol": "TRIM36", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:114460459-114516243", "ensembl_id": "ENSG00000152503" } }, "GRch38": { "90": { "location": "5:115124762-115180546", "ensembl_id": "ENSG00000152503" } } }, "hgnc_date_symbol_changed": "2001-11-21" }, "entity_type": "gene", "entity_name": "TRIM36", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28087737" ], "evidence": [ "Literature" ], "phenotypes": [ "anencephaly MONDO:0000819" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "Prdc", "FLJ21195", "CKTSF1B2", "DAND3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17655", "gene_name": "gremlin 2, DAN family BMP antagonist", "omim_gene": [ "608832" ], "alias_name": [ "protein related to DAN and cerberus" ], "gene_symbol": "GREM2", "hgnc_symbol": "GREM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:240652873-240775449", "ensembl_id": "ENSG00000180875" } }, "GRch38": { "90": { "location": "1:240489573-240612149", "ensembl_id": "ENSG00000180875" } } }, "hgnc_date_symbol_changed": "2004-07-30" }, "entity_type": "gene", "entity_name": "GREM2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26416033", "28992378", "24686385" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Tooth agenesis, selective, 9 MONDO:0014999" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "SP38", "ZPBP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15662", "gene_name": "zona pellucida binding protein", "omim_gene": [ "608498" ], "alias_name": null, "gene_symbol": "ZPBP", "hgnc_symbol": "ZPBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:49890017-50160925", "ensembl_id": "ENSG00000042813" } }, "GRch38": { "90": { "location": "7:49850421-50121329", "ensembl_id": "ENSG00000042813" } } }, "hgnc_date_symbol_changed": "2001-05-02" }, "entity_type": "gene", "entity_name": "ZPBP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31985809", "17664285" ], "evidence": [ "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "NOS1", "ZC2HC12A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23044", "gene_name": "nanos C2HC-type zinc finger 1", "omim_gene": [ "608226" ], "alias_name": null, "gene_symbol": "NANOS1", "hgnc_symbol": "NANOS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:120789228-120793854", "ensembl_id": "ENSG00000188613" } }, "GRch38": { "90": { "location": "10:119029716-119033732", "ensembl_id": "ENSG00000188613" } } }, "hgnc_date_symbol_changed": "2003-12-01" }, "entity_type": "gene", "entity_name": "NANOS1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23315541" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "LFP40", "GEF-H1", "KIAA0651", "P40" ], "biotype": "protein_coding", "hgnc_id": "HGNC:682", "gene_name": "Rho/Rac guanine nucleotide exchange factor 2", "omim_gene": [ "607560" ], "alias_name": null, "gene_symbol": "ARHGEF2", "hgnc_symbol": "ARHGEF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155916630-155976861", "ensembl_id": "ENSG00000116584" } }, "GRch38": { "90": { "location": "1:155946851-156007070", "ensembl_id": "ENSG00000116584" } } }, "hgnc_date_symbol_changed": "2000-06-09" }, "entity_type": "gene", "entity_name": "ARHGEF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28453519" ], "evidence": [ "Literature" ], "phenotypes": [ "neurodevelopmental disorder with midbrain and hindbrain malformations MONDO:0056797" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "CEP4L", "CT79" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14927", "gene_name": "testis specific 10", "omim_gene": [ "607166" ], "alias_name": [ "cancer/testis antigen 79" ], "gene_symbol": "TSGA10", "hgnc_symbol": "TSGA10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:99613724-99771427", "ensembl_id": "ENSG00000135951" } }, "GRch38": { "90": { "location": "2:98997261-99154964", "ensembl_id": "ENSG00000135951" } } }, "hgnc_date_symbol_changed": "2001-03-20" }, "entity_type": "gene", "entity_name": "TSGA10", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28905369" ], "evidence": [ "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "PAXNEB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1171", "gene_name": "elongator acetyltransferase complex subunit 4", "omim_gene": [ "606985" ], "alias_name": null, "gene_symbol": "ELP4", "hgnc_symbol": "ELP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:31531297-31805546", "ensembl_id": "ENSG00000109911" } }, "GRch38": { "90": { "location": "11:31509700-31790328", "ensembl_id": "ENSG00000109911" } } }, "hgnc_date_symbol_changed": "2002-05-24" }, "entity_type": "gene", "entity_name": "ELP4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "24290376", "17679951", "22991255", "26010655" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:7600", "gene_name": "myosin IF", "omim_gene": [ "601480" ], "alias_name": null, "gene_symbol": "MYO1F", "hgnc_symbol": "MYO1F", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:8585674-8642461", "ensembl_id": "ENSG00000142347" } }, "GRch38": { "90": { "location": "19:8520790-8577577", "ensembl_id": "ENSG00000142347" } } }, "hgnc_date_symbol_changed": "1996-04-04" }, "entity_type": "gene", "entity_name": "MYO1F", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Nonsyndromic genetic hearing loss, MONDO:0019497" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "KIAA0791", "N155" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8063", "gene_name": "nucleoporin 155", "omim_gene": [ "606694" ], "alias_name": null, "gene_symbol": "NUP155", "hgnc_symbol": "NUP155", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:37288239-37371283", "ensembl_id": "ENSG00000113569" } }, "GRch38": { "90": { "location": "5:37288137-37371181", "ensembl_id": "ENSG00000113569" } } }, "hgnc_date_symbol_changed": "1998-10-21" }, "entity_type": "gene", "entity_name": "NUP155", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19070573" ], "evidence": [ "Literature" ], "phenotypes": [ "familial atrial fibrillation MONDO:0018054" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "KIAA0744", "HDAC", "MITR", "HD7", "HDAC7B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14065", "gene_name": "histone deacetylase 9", "omim_gene": [ "606543" ], "alias_name": null, "gene_symbol": "HDAC9", "hgnc_symbol": "HDAC9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:18126572-19042039", "ensembl_id": "ENSG00000048052" } }, "GRch38": { "90": { "location": "7:18086949-19002416", "ensembl_id": "ENSG00000048052" } } }, "hgnc_date_symbol_changed": "2002-09-06" }, "entity_type": "gene", "entity_name": "HDAC9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34750192", "35710300", "38318288" ], "evidence": [ "ClinGen" ], "phenotypes": [ "Auriculocondylar syndrome MONDO:0000107" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "IR2155535", "TMEM2L", "HYBID" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29213", "gene_name": "cell migration inducing hyaluronan binding protein", "omim_gene": [ "608366" ], "alias_name": [ "hyaluronan-binding protein involved in hyaluronan depolymerization" ], "gene_symbol": "CEMIP", "hgnc_symbol": "CEMIP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:81071684-81244117", "ensembl_id": "ENSG00000103888" } }, "GRch38": { "90": { "location": "15:80779343-80951776", "ensembl_id": "ENSG00000103888" } } }, "hgnc_date_symbol_changed": "2014-02-06" }, "entity_type": "gene", "entity_name": "CEMIP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen", "ClinGen" ], "phenotypes": [ "Nonsyndromic genetic hearing loss, MONDO:0019497" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "NG22", "CTL4", "FLJ14491", "TPPT", "DFNA72" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13941", "gene_name": "solute carrier family 44 member 4", "omim_gene": [ "606107" ], "alias_name": null, "gene_symbol": "SLC44A4", "hgnc_symbol": "SLC44A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31830969-31846823", "ensembl_id": "ENSG00000204385" } }, "GRch38": { "90": { "location": "6:31863192-31879046", "ensembl_id": "ENSG00000204385" } } }, "hgnc_date_symbol_changed": "2005-09-06" }, "entity_type": "gene", "entity_name": "SLC44A4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28013291" ], "evidence": [ "Literature" ], "phenotypes": [ "nonsyndromic genetic hearing loss MONDO:0019497" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "myr2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7597", "gene_name": "myosin IC", "omim_gene": [ "606538" ], "alias_name": null, "gene_symbol": "MYO1C", "hgnc_symbol": "MYO1C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:1367392-1396106", "ensembl_id": "ENSG00000197879" } }, "GRch38": { "90": { "location": "17:1464098-1492812", "ensembl_id": "ENSG00000197879" } } }, "hgnc_date_symbol_changed": "1996-04-04" }, "entity_type": "gene", "entity_name": "MYO1C", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen", "ClinGen" ], "phenotypes": [ "Nonsyndromic genetic hearing loss, MONDO:0019497" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:9024", "gene_name": "plakophilin 2", "omim_gene": [ "602861" ], "alias_name": null, "gene_symbol": "PKP2", "hgnc_symbol": "PKP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:32943679-33049774", "ensembl_id": "ENSG00000057294" } }, "GRch38": { "90": { "location": "12:32790745-32896840", "ensembl_id": "ENSG00000057294" } } }, "hgnc_date_symbol_changed": "1997-08-28" }, "entity_type": "gene", "entity_name": "PKP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "15489853", "16567567", "30562116", "35059364", "38050058" ], "evidence": [ "Literature", "Expert Review Green" ], "phenotypes": [ "Arrhythmogenic right ventricular dysplasia 9 (MIM#609040)", "Dilated cardiomyopathy, MONDO:0005021, PKP2-related", "hypoplastic left heart syndrome", "hydrops fetalis", "ventricular septal defect", "left ventricular non-compaction" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "ZFR1", "SPG71" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17277", "gene_name": "zinc finger RNA binding protein", "omim_gene": [ "615635" ], "alias_name": null, "gene_symbol": "ZFR", "hgnc_symbol": "ZFR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:32354456-32444867", "ensembl_id": "ENSG00000056097" } }, "GRch38": { "90": { "location": "5:32354350-32444761", "ensembl_id": "ENSG00000056097" } } }, "hgnc_date_symbol_changed": "2001-12-07" }, "entity_type": "gene", "entity_name": "ZFR", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24482476" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "hereditary spastic paraplegia, MONDO:0019064" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "ZNF673B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17625", "gene_name": "zinc finger protein 674", "omim_gene": [ "300573" ], "alias_name": null, "gene_symbol": "ZNF674", "hgnc_symbol": "ZNF674", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:46357162-46404892", "ensembl_id": "ENSG00000251192" } }, "GRch38": { "90": { "location": "X:46497727-46545457", "ensembl_id": "ENSG00000251192" } } }, "hgnc_date_symbol_changed": "2005-10-27" }, "entity_type": "gene", "entity_name": "ZNF674", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "https://search.clinicalgenome.org/CCID:006588" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "X-linked intellectual disability\tMONDO:0100284" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [], "biotype": "transcribed_unprocessed_pseudogene", "hgnc_id": "HGNC:50679", "gene_name": "fatty acid amide hydrolase pseudogene 1", "omim_gene": null, "alias_name": null, "gene_symbol": "FAAHP1", "hgnc_symbol": "FAAHP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:46897801-46911193", "ensembl_id": "ENSG00000232022" } }, "GRch38": { "90": { "location": "1:46432129-46482493", "ensembl_id": "ENSG00000232022" } } }, "hgnc_date_symbol_changed": "2014-06-05" }, "entity_type": "gene", "entity_name": "FAAHP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30929760" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Pain insensitivity" ], "mode_of_inheritance": "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "IRE1", "IRE1P" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3449", "gene_name": "endoplasmic reticulum to nucleus signaling 1", "omim_gene": [ "604033" ], "alias_name": [ "inositol-requiring enzyme 1", "Serine/threonine-protein kinase/endoribonuclease IRE1" ], "gene_symbol": "ERN1", "hgnc_symbol": "ERN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:62116502-62208179", "ensembl_id": "ENSG00000178607" } }, "GRch38": { "90": { "location": "17:64039142-64130819", "ensembl_id": "ENSG00000178607" } } }, "hgnc_date_symbol_changed": "1998-08-06" }, "entity_type": "gene", "entity_name": "ERN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Immune Dysregulation, MONDO:0005046" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "AGT2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14412", "gene_name": "alanine--glyoxylate aminotransferase 2", "omim_gene": [ "612471" ], "alias_name": [ "beta-alanine-pyruvate aminotransferase", "beta-ALAAT II" ], "gene_symbol": "AGXT2", "hgnc_symbol": "AGXT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:34998206-35048198", "ensembl_id": "ENSG00000113492" } }, "GRch38": { "90": { "location": "5:34998101-35048135", "ensembl_id": "ENSG00000113492" } } }, "hgnc_date_symbol_changed": "2001-01-22" }, "entity_type": "gene", "entity_name": "AGXT2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21572414" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "beta-aminoisobutyric acid, urinary excretion of MONDO:0008860" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11003", "gene_name": "solute carrier family 29 member 1 (Augustine blood group)", "omim_gene": [ "602193" ], "alias_name": null, "gene_symbol": "SLC29A1", "hgnc_symbol": "SLC29A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:44187242-44201888", "ensembl_id": "ENSG00000112759" } }, "GRch38": { "90": { "location": "6:44219505-44234151", "ensembl_id": "ENSG00000112759" } } }, "hgnc_date_symbol_changed": "1997-05-29" }, "entity_type": "gene", "entity_name": "SLC29A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35955904", "25896650" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Disorders of ectonucleotide and nucleic acid metabolism", "Equilibrative nucleoside transporter 1 deficiency MONDO:0019052" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "PM-Scl", "PM/Scl-100", "Rrp6p", "RRP6", "p2", "p3", "p4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9138", "gene_name": "exosome component 10", "omim_gene": [ "605960" ], "alias_name": [ "polymyositis/scleroderma autoantigen 2 (100kD)" ], "gene_symbol": "EXOSC10", "hgnc_symbol": "EXOSC10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:11126675-11159938", "ensembl_id": "ENSG00000171824" } }, "GRch38": { "90": { "location": "1:11066618-11099881", "ensembl_id": "ENSG00000171824" } } }, "hgnc_date_symbol_changed": "2004-06-18" }, "entity_type": "gene", "entity_name": "EXOSC10", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41132091" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Microcephaly, MONDO:0001149, EXOSC10-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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:4066", "gene_name": "GRB2 associated binding protein 1", "omim_gene": [ "604439" ], "alias_name": null, "gene_symbol": "GAB1", "hgnc_symbol": "GAB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:144257915-144395721", "ensembl_id": "ENSG00000109458" } }, "GRch38": { "90": { "location": "4:143336762-143474568", "ensembl_id": "ENSG00000109458" } } }, "hgnc_date_symbol_changed": "1996-12-18" }, "entity_type": "gene", "entity_name": "GAB1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29408807" ], "evidence": [ "Literature" ], "phenotypes": [ "hearing loss, autosomal recessive MONDO:0019588" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "hTIM", "TIM", "TIM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11813", "gene_name": "timeless circadian regulator", "omim_gene": [ "603887" ], "alias_name": [ "Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1" ], "gene_symbol": "TIMELESS", "hgnc_symbol": "TIMELESS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:56810903-56843187", "ensembl_id": "ENSG00000111602" } }, "GRch38": { "90": { "location": "12:56416373-56449403", "ensembl_id": "ENSG00000111602" } } }, "hgnc_date_symbol_changed": "1999-01-08" }, "entity_type": "gene", "entity_name": "TIMELESS", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31138685" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Advance sleep phase syndrome MONDO:0015609" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "L21", "FLJ27458", "MGC71252", "MGC104274", "MGC104275", "DKFZp686C06101" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10313", "gene_name": "ribosomal protein L21", "omim_gene": [ "603636" ], "alias_name": [ "60S ribosomal protein L21" ], "gene_symbol": "RPL21", "hgnc_symbol": "RPL21", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:27825446-27830828", "ensembl_id": "ENSG00000122026" } }, "GRch38": { "90": { "location": "13:27251309-27256691", "ensembl_id": "ENSG00000122026" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "RPL21", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21412954" ], "evidence": [ "NHS GMS", "Expert Review Red", "Expert Review Red", "NHS GMS" ], "phenotypes": [ "Hypotrichosis 12 MIM#615885" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "V8", "EWI-3", "MGC117164" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5950", "gene_name": "immunoglobulin superfamily member 3", "omim_gene": [ "603491" ], "alias_name": null, "gene_symbol": "IGSF3", "hgnc_symbol": "IGSF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:117117031-117210375", "ensembl_id": "ENSG00000143061" } }, "GRch38": { "90": { "location": "1:116574399-116667755", "ensembl_id": "ENSG00000143061" } } }, "hgnc_date_symbol_changed": "1998-08-13" }, "entity_type": "gene", "entity_name": "IGSF3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24372406" ], "evidence": [ "Literature" ], "phenotypes": [ "familial congenital nasolacrimal duct obstruction MONDO:0007871" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:8847", "gene_name": "period circadian regulator 3", "omim_gene": [ "603427" ], "alias_name": null, "gene_symbol": "PER3", "hgnc_symbol": "PER3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:7844380-7905237", "ensembl_id": "ENSG00000049246" } }, "GRch38": { "90": { "location": "1:7784320-7845177", "ensembl_id": "ENSG00000049246" } } }, "hgnc_date_symbol_changed": "1999-06-11" }, "entity_type": "gene", "entity_name": "PER3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26903630" ], "evidence": [ "Literature" ], "phenotypes": [ "advanced sleep phase syndrome MONDO:0015609" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "humS6PKh1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10439", "gene_name": "ribosomal protein S6 kinase C1", "omim_gene": [ "617517" ], "alias_name": null, "gene_symbol": "RPS6KC1", "hgnc_symbol": "RPS6KC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:213224589-213448116", "ensembl_id": "ENSG00000136643" } }, "GRch38": { "90": { "location": "1:213051233-213274773", "ensembl_id": "ENSG00000136643" } } }, "hgnc_date_symbol_changed": "1999-12-14" }, "entity_type": "gene", "entity_name": "RPS6KC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41130203" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "Hcam3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8776", "gene_name": "phosphodiesterase 1C", "omim_gene": [ "602987" ], "alias_name": null, "gene_symbol": "PDE1C", "hgnc_symbol": "PDE1C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:31790793-32338941", "ensembl_id": "ENSG00000154678" } }, "GRch38": { "90": { "location": "7:31751179-32299329", "ensembl_id": "ENSG00000154678" } } }, "hgnc_date_symbol_changed": "1994-07-29" }, "entity_type": "gene", "entity_name": "PDE1C", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29860631" ], "evidence": [ "Literature" ], "phenotypes": [ "autosomal dominant nonsyndromic hearing loss MONDO:0019587" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "KIAA1300", "KIF16A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19162", "gene_name": "StAR related lipid transfer domain containing 9", "omim_gene": [ "614642" ], "alias_name": null, "gene_symbol": "STARD9", "hgnc_symbol": "STARD9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:42867857-43013179", "ensembl_id": "ENSG00000159433" } }, "GRch38": { "90": { "location": "15:42575659-42720981", "ensembl_id": "ENSG00000159433" } } }, "hgnc_date_symbol_changed": "2002-08-28" }, "entity_type": "gene", "entity_name": "STARD9", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41137852", "28777490" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Syndromic disorder (MONDO:0002254), STARD9-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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "PI4K-BETA", "pi4K92" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8984", "gene_name": "phosphatidylinositol 4-kinase beta", "omim_gene": [ "602758" ], "alias_name": null, "gene_symbol": "PI4KB", "hgnc_symbol": "PI4KB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:151264273-151300191", "ensembl_id": "ENSG00000143393" } }, "GRch38": { "90": { "location": "1:151291797-151327715", "ensembl_id": "ENSG00000143393" } } }, "hgnc_date_symbol_changed": "2007-08-02" }, "entity_type": "gene", "entity_name": "PI4KB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33358777" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "hearing loss, autosomal dominant 87 MONDO:0859525" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "CTAK1", "KP78", "PAR-1A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6897", "gene_name": "microtubule affinity regulating kinase 3", "omim_gene": [ "602678" ], "alias_name": null, "gene_symbol": "MARK3", "hgnc_symbol": "MARK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:103851729-103970168", "ensembl_id": "ENSG00000075413" } }, "GRch38": { "90": { "location": "14:103385392-103503831", "ensembl_id": "ENSG00000075413" } } }, "hgnc_date_symbol_changed": "1997-10-27" }, "entity_type": "gene", "entity_name": "MARK3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29771303" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "visual impairment and progressive phthisis bulbi MONDO:0032655" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "RIP140" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8001", "gene_name": "nuclear receptor interacting protein 1", "omim_gene": [ "602490" ], "alias_name": [ "receptor interacting protein 140", "nuclear factor RIP140" ], "gene_symbol": "NRIP1", "hgnc_symbol": "NRIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:16333556-16437321", "ensembl_id": "ENSG00000180530" } }, "GRch38": { "90": { "location": "21:14961235-15065936", "ensembl_id": "ENSG00000180530" } } }, "hgnc_date_symbol_changed": "1998-12-18" }, "entity_type": "gene", "entity_name": "NRIP1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28381549", "34525250" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "congenital anomalies of kidney and urinary tract 3 MONDO:0032646" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "KIAA0360", "Hsal2", "ZNF795" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10526", "gene_name": "spalt like transcription factor 2", "omim_gene": [ "602219" ], "alias_name": null, "gene_symbol": "SALL2", "hgnc_symbol": "SALL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:21989232-22005350", "ensembl_id": "ENSG00000165821" } }, "GRch38": { "90": { "location": "14:21521081-21537216", "ensembl_id": "ENSG00000165821" } } }, "hgnc_date_symbol_changed": "1996-10-11" }, "entity_type": "gene", "entity_name": "SALL2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24412933" ], "evidence": [ "Other", "Expert Review Red", "Expert Review Red", "Other" ], "phenotypes": [ "Coloboma, ocular, autosomal recessive, MIM#16820" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "BRD6", "CT9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1105", "gene_name": "bromodomain testis associated", "omim_gene": [ "602144" ], "alias_name": [ "cancer/testis antigen 9" ], "gene_symbol": "BRDT", "hgnc_symbol": "BRDT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:92414928-92479983", "ensembl_id": "ENSG00000137948" } }, "GRch38": { "90": { "location": "1:91949371-92014426", "ensembl_id": "ENSG00000137948" } } }, "hgnc_date_symbol_changed": "1997-08-15" }, "entity_type": "gene", "entity_name": "BRDT", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32469048", "28199965", "22922464" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "3pK", "MAPKAP3", "3PK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6888", "gene_name": "mitogen-activated protein kinase-activated protein kinase 3", "omim_gene": [ "602130" ], "alias_name": null, "gene_symbol": "MAPKAPK3", "hgnc_symbol": "MAPKAPK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:50648951-50686720", "ensembl_id": "ENSG00000114738" } }, "GRch38": { "90": { "location": "3:50611520-50649297", "ensembl_id": "ENSG00000114738" } } }, "hgnc_date_symbol_changed": "1999-03-26" }, "entity_type": "gene", "entity_name": "MAPKAPK3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26744326" ], "evidence": [ "Literature" ], "phenotypes": [ "patterned macular dystrophy 3 MONDO:0014920" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "DLP12", "Dnahc3", "HL-19", "hdhc3", "DHC3", "FLJ40427", "FLJ44290" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2943", "gene_name": "dynein axonemal heavy chain 12", "omim_gene": [ "603340" ], "alias_name": null, "gene_symbol": "DNAH12", "hgnc_symbol": "DNAH12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:57327727-57530071", "ensembl_id": "ENSG00000174844" } }, "GRch38": { "90": { "location": "3:57293699-57544344", "ensembl_id": "ENSG00000174844" } } }, "hgnc_date_symbol_changed": "1999-02-15" }, "entity_type": "gene", "entity_name": "DNAH12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39071892", "40146200" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 100, MIM# 621209" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "TAFII105" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11538", "gene_name": "TATA-box binding protein associated factor 4b", "omim_gene": [ "601689" ], "alias_name": [ "TATA box binding protein (TBP)-associated factor 4B" ], "gene_symbol": "TAF4B", "hgnc_symbol": "TAF4B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:23805900-23971649", "ensembl_id": "ENSG00000141384" } }, "GRch38": { "90": { "location": "18:26225936-26391685", "ensembl_id": "ENSG00000141384" } } }, "hgnc_date_symbol_changed": "2001-12-07" }, "entity_type": "gene", "entity_name": "TAF4B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24431330", "15774719" ], "evidence": [ "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:2395", "gene_name": "crystallin beta A2", "omim_gene": [ "600836" ], "alias_name": null, "gene_symbol": "CRYBA2", "hgnc_symbol": "CRYBA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:219854911-219858143", "ensembl_id": "ENSG00000163499" } }, "GRch38": { "90": { "location": "2:218990189-218993421", "ensembl_id": "ENSG00000163499" } } }, "hgnc_date_symbol_changed": "1994-08-18" }, "entity_type": "gene", "entity_name": "CRYBA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23508780", "37438446", "21212184", "38909969", "34014271", "28450710" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "cataract MONDO:0005129" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "MT1-MMP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7160", "gene_name": "matrix metallopeptidase 14", "omim_gene": [ "600754" ], "alias_name": [ "membrane type 1 metalloprotease" ], "gene_symbol": "MMP14", "hgnc_symbol": "MMP14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23305766-23318236", "ensembl_id": "ENSG00000157227" } }, "GRch38": { "90": { "location": "14:22836557-22849027", "ensembl_id": "ENSG00000157227" } } }, "hgnc_date_symbol_changed": "1994-11-20" }, "entity_type": "gene", "entity_name": "MMP14", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29741626", "22922033", "10520996" ], "evidence": [ "Expert Review Amber", "Expert Review Amber" ], "phenotypes": [ "Winchester syndrome 277950" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "C-P4Halpha(II)" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8547", "gene_name": "prolyl 4-hydroxylase subunit alpha 2", "omim_gene": [ "600608" ], "alias_name": [ "4-PH alpha 2", "collagen prolyl 4-hydroxylase alpha(II)" ], "gene_symbol": "P4HA2", "hgnc_symbol": "P4HA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:131527531-131631008", "ensembl_id": "ENSG00000072682" } }, "GRch38": { "90": { "location": "5:132191838-132295315", "ensembl_id": "ENSG00000072682" } } }, "hgnc_date_symbol_changed": "1999-02-23" }, "entity_type": "gene", "entity_name": "P4HA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25741866" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "myopia MONDO:0001384" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "IP3R2", "CFAP48" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6181", "gene_name": "inositol 1,4,5-trisphosphate receptor type 2", "omim_gene": [ "600144" ], "alias_name": [ "cilia and flagella associated protein 48" ], "gene_symbol": "ITPR2", "hgnc_symbol": "ITPR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:26490342-26986131", "ensembl_id": "ENSG00000123104" } }, "GRch38": { "90": { "location": "12:26336515-26833198", "ensembl_id": "ENSG00000123104" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "ITPR2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25329695" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "isolated anhidrosis with normal sweat glands MONDO:0007118" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "CT5.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11335", "gene_name": "SSX family member 1", "omim_gene": [ "312820" ], "alias_name": [ "cancer/testis antigen family 5, member 1" ], "gene_symbol": "SSX1", "hgnc_symbol": "SSX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48114752-48126879", "ensembl_id": "ENSG00000126752" } }, "GRch38": { "90": { "location": "X:48255317-48267444", "ensembl_id": "ENSG00000126752" } } }, "hgnc_date_symbol_changed": "1995-07-06" }, "entity_type": "gene", "entity_name": "SSX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36796361" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "spermatogenic failure, X-linked, 5 MONDO:085947" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "FLJ20527" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26047", "gene_name": "cancer/testis antigen 55", "omim_gene": null, "alias_name": null, "gene_symbol": "CT55", "hgnc_symbol": "CT55", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:134290461-134305322", "ensembl_id": "ENSG00000169551" } }, "GRch38": { "90": { "location": "X:135156536-135171398", "ensembl_id": "ENSG00000169551" } } }, "hgnc_date_symbol_changed": "2013-12-10" }, "entity_type": "gene", "entity_name": "CT55", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36481789" ], "evidence": [ "Literature" ], "phenotypes": [ "Spermatogenic failure MONDO:0004983" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "KIAA0901", "JM21", "HD6", "FLJ16239", "PPP1R90" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14064", "gene_name": "histone deacetylase 6", "omim_gene": [ "300272" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 90" ], "gene_symbol": "HDAC6", "hgnc_symbol": "HDAC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48659784-48683392", "ensembl_id": "ENSG00000094631" } }, "GRch38": { "90": { "location": "X:48801377-48824982", "ensembl_id": "ENSG00000094631" } } }, "hgnc_date_symbol_changed": "2000-11-28" }, "entity_type": "gene", "entity_name": "HDAC6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20181727" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "chondrodysplasia MONDO:0022723" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "GASP2", "FLJ37327" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25169", "gene_name": "G protein-coupled receptor associated sorting protein 2", "omim_gene": [ "300969" ], "alias_name": null, "gene_symbol": "GPRASP2", "hgnc_symbol": "GPRASP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:101967104-101973607", "ensembl_id": "ENSG00000158301" } }, "GRch38": { "90": { "location": "X:102712176-102717733", "ensembl_id": "ENSG00000158301" } } }, "hgnc_date_symbol_changed": "2004-08-25" }, "entity_type": "gene", "entity_name": "GPRASP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28096187", "41688572" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0044702" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "HE6", "TM7LN2", "EDDM6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4516", "gene_name": "adhesion G protein-coupled receptor G2", "omim_gene": [ "300572" ], "alias_name": [ "epididymal protein 6" ], "gene_symbol": "ADGRG2", "hgnc_symbol": "ADGRG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:19007427-19140755", "ensembl_id": "ENSG00000173698" } }, "GRch38": { "90": { "location": "X:18989309-19122637", "ensembl_id": "ENSG00000173698" } } }, "hgnc_date_symbol_changed": "2015-03-03" }, "entity_type": "gene", "entity_name": "ADGRG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "15367682", "27476656" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "congenital bilateral absence of vas deferens MONDO:0018801" ], "mode_of_inheritance": "Other", "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "HBLP1", "VRP", "AD3", "GRAMD8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17791", "gene_name": "TBC1 domain family member 8", "omim_gene": null, "alias_name": [ "BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein" ], "gene_symbol": "TBC1D8", "hgnc_symbol": "TBC1D8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:101624079-101869328", "ensembl_id": "ENSG00000204634" } }, "GRch38": { "90": { "location": "2:101007617-101252866", "ensembl_id": "ENSG00000204634" } } }, "hgnc_date_symbol_changed": "2003-05-19" }, "entity_type": "gene", "entity_name": "TBC1D8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41556581", "35248088", "33584793" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lennox‑Gastaut syndrome MONDO:0016532", "non-syndromic hearing loss MONDO:0019587", "non obstructive azoospermia or cryptozoospermia MONDO:0005372" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "ATPIG", "ATPIQ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13554", "gene_name": "ATPase phospholipid transporting 11C", "omim_gene": [ "300516" ], "alias_name": null, "gene_symbol": "ATP11C", "hgnc_symbol": "ATP11C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:138808505-139027435", "ensembl_id": "ENSG00000101974" } }, "GRch38": { "90": { "location": "X:139726346-139945276", "ensembl_id": "ENSG00000101974" } } }, "hgnc_date_symbol_changed": "2000-09-25" }, "entity_type": "gene", "entity_name": "ATP11C", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41523080", "40869043", "37892263", "37671681", "26944472", "37314652" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Hemolytic anemia, congenital, X-linked MIM#301015" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:14963", "gene_name": "G protein-coupled receptor 101", "omim_gene": [ "300393" ], "alias_name": null, "gene_symbol": "GPR101", "hgnc_symbol": "GPR101", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:136112307-136113833", "ensembl_id": "ENSG00000165370" } }, "GRch38": { "90": { "location": "X:137030148-137031674", "ensembl_id": "ENSG00000165370" } } }, "hgnc_date_symbol_changed": "2001-04-23" }, "entity_type": "gene", "entity_name": "GPR101", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29389097" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "pituitary adenoma, growth hormone-secreting, 2 MONDO:0010492" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "FXY2", "TRIM1", "RNF60", "MRX101" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7096", "gene_name": "midline 2", "omim_gene": [ "300204" ], "alias_name": null, "gene_symbol": "MID2", "hgnc_symbol": "MID2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:107068985-107170423", "ensembl_id": "ENSG00000080561" } }, "GRch38": { "90": { "location": "X:107825755-107927193", "ensembl_id": "ENSG00000080561" } } }, "hgnc_date_symbol_changed": "1999-08-25" }, "entity_type": "gene", "entity_name": "MID2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24115387" ], "evidence": [ "Literature" ], "phenotypes": [ "non-syndromic X-linked intellectual disability MONDO:0019181" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "HMG2A", "MGC90319" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5004", "gene_name": "high mobility group box 3", "omim_gene": [ "300193" ], "alias_name": [ "non-histone chromosomal protein" ], "gene_symbol": "HMGB3", "hgnc_symbol": "HMGB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:150148982-150159248", "ensembl_id": "ENSG00000029993" } }, "GRch38": { "90": { "location": "X:150980509-150990775", "ensembl_id": "ENSG00000029993" } } }, "hgnc_date_symbol_changed": "2002-08-16" }, "entity_type": "gene", "entity_name": "HMGB3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24993872" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome\tMONDO:0010485" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "NYD-SP14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29936", "gene_name": "tetratricopeptide repeat domain 29", "omim_gene": null, "alias_name": null, "gene_symbol": "TTC29", "hgnc_symbol": "TTC29", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:147627790-147867034", "ensembl_id": "ENSG00000137473" } }, "GRch38": { "90": { "location": "4:146706638-146945882", "ensembl_id": "ENSG00000137473" } } }, "hgnc_date_symbol_changed": "2006-07-11" }, "entity_type": "gene", "entity_name": "TTC29", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31735292" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "KIAA1505" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29296", "gene_name": "coiled-coil domain containing 146", "omim_gene": null, "alias_name": null, "gene_symbol": "CCDC146", "hgnc_symbol": "CCDC146", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:76751751-76958850", "ensembl_id": "ENSG00000135205" } }, "GRch38": { "90": { "location": "7:77122434-77329533", "ensembl_id": "ENSG00000135205" } } }, "hgnc_date_symbol_changed": "2007-12-06" }, "entity_type": "gene", "entity_name": "CCDC146", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38441556", "39245651" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "FLJ25390" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21099", "gene_name": "armadillo repeat containing 12", "omim_gene": null, "alias_name": null, "gene_symbol": "ARMC12", "hgnc_symbol": "ARMC12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:35704809-35716856", "ensembl_id": "ENSG00000157343" } }, "GRch38": { "90": { "location": "6:35737032-35749079", "ensembl_id": "ENSG00000157343" } } }, "hgnc_date_symbol_changed": "2011-12-14" }, "entity_type": "gene", "entity_name": "ARMC12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35534203", "33536340" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "DKFZP434K156", "dJ1002M8.3", "CaM-IP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15872", "gene_name": "cilia and flagella associated protein 61", "omim_gene": null, "alias_name": [ "hypothetical protein LOC26074" ], "gene_symbol": "CFAP61", "hgnc_symbol": "CFAP61", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:20033158-20341346", "ensembl_id": "ENSG00000089101" } }, "GRch38": { "90": { "location": "20:20052514-20360702", "ensembl_id": "ENSG00000089101" } } }, "hgnc_date_symbol_changed": "2014-07-31" }, "entity_type": "gene", "entity_name": "CFAP61", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36659204", "34792097", "35387802", "35174165" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:29915", "gene_name": "nucleoporin 210 like", "omim_gene": null, "alias_name": null, "gene_symbol": "NUP210L", "hgnc_symbol": "NUP210L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:153965161-154127592", "ensembl_id": "ENSG00000143552" } }, "GRch38": { "90": { "location": "1:153992685-154155116", "ensembl_id": "ENSG00000143552" } } }, "hgnc_date_symbol_changed": "2004-11-17" }, "entity_type": "gene", "entity_name": "NUP210L", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20034429", "33332558" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "BAP2", "IRSp53" ], "biotype": "protein_coding", "hgnc_id": "HGNC:947", "gene_name": "BAI1 associated protein 2", "omim_gene": [ "605475" ], "alias_name": [ "insulin receptor substrate of 53 kDa" ], "gene_symbol": "BAIAP2", "hgnc_symbol": "BAIAP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:79008948-79091232", "ensembl_id": "ENSG00000175866" } }, "GRch38": { "90": { "location": "17:81035122-81117432", "ensembl_id": "ENSG00000175866" } } }, "hgnc_date_symbol_changed": "1999-02-26" }, "entity_type": "gene", "entity_name": "BAIAP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41133935", "38149472" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 120, MIM# 621468" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "FLJ11500", "COE2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19090", "gene_name": "early B-cell factor 2", "omim_gene": [ "609934" ], "alias_name": null, "gene_symbol": "EBF2", "hgnc_symbol": "EBF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:25699246-25902913", "ensembl_id": "ENSG00000221818" } }, "GRch38": { "90": { "location": "8:25841730-26045397", "ensembl_id": "ENSG00000221818" } } }, "hgnc_date_symbol_changed": "2002-08-09" }, "entity_type": "gene", "entity_name": "EBF2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41615236", "38978649", "29704291" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Lipodystrophy, MONDO:0006573, EBF2-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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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:9670", "gene_name": "protein tyrosine phosphatase, receptor type F", "omim_gene": [ "179590" ], "alias_name": null, "gene_symbol": "PTPRF", "hgnc_symbol": "PTPRF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:43990858-44089343", "ensembl_id": "ENSG00000142949" } }, "GRch38": { "90": { "location": "1:43525187-43623666", "ensembl_id": "ENSG00000142949" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "PTPRF", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24781087" ], "evidence": [ "Literature" ], "phenotypes": [ "breasts and/or nipples, aplasia or hypoplasia of, 2 MONDO:0014450" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [ "ALC1", "AMLC", "GT1", "PRO1957" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7585", "gene_name": "myosin light chain 4", "omim_gene": [ "160770" ], "alias_name": [ "myosin, atrial/fetal muscle, light chain" ], "gene_symbol": "MYL4", "hgnc_symbol": "MYL4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:45277812-45301045", "ensembl_id": "ENSG00000198336" } }, "GRch38": { "90": { "location": "17:47200446-47223679", "ensembl_id": "ENSG00000198336" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "MYL4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27742809", "27066836", "29080865" ], "evidence": [ "Literature", "Expert Review Amber", "Expert Review Amber", "Literature" ], "phenotypes": [ "atrial fibrillation, familial, 18 MONDO:0015001" ], "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": "1.4744", "version_created": "2026-04-15T16:21:38.926946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "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": [] } ] }