Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=109
{ "count": 35535, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=110", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=108", "results": [ { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:32", "gene_name": "ATP binding cassette subfamily A member 2", "omim_gene": [ "600047" ], "alias_name": null, "gene_symbol": "ABCA2", "hgnc_symbol": "ABCA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139901686-139923367", "ensembl_id": "ENSG00000107331" } }, "GRch38": { "90": { "location": "9:137007227-137028922", "ensembl_id": "ENSG00000107331" } } }, "hgnc_date_symbol_changed": "1994-03-16" }, "entity_type": "gene", "entity_name": "ABCA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30237576", "29302074", "31047799" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC26963", "SMS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28395", "gene_name": "sphingomyelin synthase 2", "omim_gene": [ "611574" ], "alias_name": null, "gene_symbol": "SGMS2", "hgnc_symbol": "SGMS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:108745719-108836203", "ensembl_id": "ENSG00000164023" } }, "GRch38": { "90": { "location": "4:107824563-107915047", "ensembl_id": "ENSG00000164023" } } }, "hgnc_date_symbol_changed": "2007-03-15" }, "entity_type": "gene", "entity_name": "SGMS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30779713", "32028018" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1172", "DKFZp434E098", "SRA4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19304", "gene_name": "SR-related CTD associated factor 4", "omim_gene": [ "616023" ], "alias_name": null, "gene_symbol": "SCAF4", "hgnc_symbol": "SCAF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:33043346-33104388", "ensembl_id": "ENSG00000156304" } }, "GRch38": { "90": { "location": "21:31671033-31732075", "ensembl_id": "ENSG00000156304" } } }, "hgnc_date_symbol_changed": "2011-01-10" }, "entity_type": "gene", "entity_name": "SCAF4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32730804" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Fliedner-Zweier syndrome, MIM#620511" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DBL", "ARHGEF21" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6940", "gene_name": "MCF.2 cell line derived transforming sequence", "omim_gene": [ "311030" ], "alias_name": [ "Oncogene MCF2 (oncogene DBL)" ], "gene_symbol": "MCF2", "hgnc_symbol": "MCF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:138663929-138790386", "ensembl_id": "ENSG00000101977" } }, "GRch38": { "90": { "location": "X:139581770-139708227", "ensembl_id": "ENSG00000101977" } } }, "hgnc_date_symbol_changed": "1989-06-06" }, "entity_type": "gene", "entity_name": "MCF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31846234" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Perisylvian polymicrogyria" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4862", "gene_name": "NCK associated protein 1 like", "omim_gene": [ "141180" ], "alias_name": null, "gene_symbol": "NCKAP1L", "hgnc_symbol": "NCKAP1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:54891495-54937726", "ensembl_id": "ENSG00000123338" } }, "GRch38": { "90": { "location": "12:54497711-54548238", "ensembl_id": "ENSG00000123338" } } }, "hgnc_date_symbol_changed": "2005-10-11" }, "entity_type": "gene", "entity_name": "NCKAP1L", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32647003" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Immunodeficiency", "Immune dysregulation", "Immunodeficiency 72 with autoinflammation, MIM# 618982" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MRLC2", "HUMMLC2B", "MYL11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29824", "gene_name": "myosin light chain, phosphorylatable, fast skeletal muscle", "omim_gene": [ "617378" ], "alias_name": [ "myosin, light chain 11, regulatory", "myosin regulatory light chain 2" ], "gene_symbol": "MYLPF", "hgnc_symbol": "MYLPF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:30382255-30389312", "ensembl_id": "ENSG00000180209" } }, "GRch38": { "90": { "location": "16:30370934-30377991", "ensembl_id": "ENSG00000180209" } } }, "hgnc_date_symbol_changed": "2009-03-06" }, "entity_type": "gene", "entity_name": "MYLPF", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32707087" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Distal arthrogryposis type 1C (DA1C), MIM#619110" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ11830", "RNF70" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16648", "gene_name": "praja ring finger ubiquitin ligase 1", "omim_gene": [ "300420" ], "alias_name": null, "gene_symbol": "PJA1", "hgnc_symbol": "PJA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:68380694-68385636", "ensembl_id": "ENSG00000181191" } }, "GRch38": { "90": { "location": "X:69160851-69165793", "ensembl_id": "ENSG00000181191" } } }, "hgnc_date_symbol_changed": "2001-12-07" }, "entity_type": "gene", "entity_name": "PJA1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32530565" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC15668", "4-HPPD-L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28242", "gene_name": "4-hydroxyphenylpyruvate dioxygenase like", "omim_gene": null, "alias_name": null, "gene_symbol": "HPDL", "hgnc_symbol": "HPDL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45792545-45794347", "ensembl_id": "ENSG00000186603" } }, "GRch38": { "90": { "location": "1:45326905-45328533", "ensembl_id": "ENSG00000186603" } } }, "hgnc_date_symbol_changed": "2007-03-14" }, "entity_type": "gene", "entity_name": "HPDL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32707086" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Spastic paraplegia-83 (SPG83), MIM#619027", "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026", "Progressive neurological disorder", "Leigh-like syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0840", "FBL7", "FBL6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13604", "gene_name": "F-box and leucine rich repeat protein 7", "omim_gene": [ "605656" ], "alias_name": null, "gene_symbol": "FBXL7", "hgnc_symbol": "FBXL7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:15500305-15939900", "ensembl_id": "ENSG00000183580" } }, "GRch38": { "90": { "location": "5:15500196-15939795", "ensembl_id": "ENSG00000183580" } } }, "hgnc_date_symbol_changed": "2000-09-27" }, "entity_type": "gene", "entity_name": "FBXL7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 31633297" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hennekam lymphangiectasia-lymphedema syndrome MONDO:0016256" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2384", "gene_name": "cryptochrome circadian regulator 1", "omim_gene": [ "601933" ], "alias_name": null, "gene_symbol": "CRY1", "hgnc_symbol": "CRY1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:107385142-107487607", "ensembl_id": "ENSG00000008405" } }, "GRch38": { "90": { "location": "12:106991364-107093829", "ensembl_id": "ENSG00000008405" } } }, "hgnc_date_symbol_changed": "1996-10-26" }, "entity_type": "gene", "entity_name": "CRY1", "confidence_level": "3", "penetrance": "Incomplete", "mode_of_pathogenicity": null, "publications": [ "PMID: 28388406", "PMID: 32538895" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Attention deficit/hyperactivity disorder (ADHD)", "Delayed sleep phase disorder (DSPD)," ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "bHLHe76" ], "biotype": "protein_coding", "hgnc_id": "HGNC:348", "gene_name": "aryl hydrocarbon receptor", "omim_gene": [ "600253" ], "alias_name": null, "gene_symbol": "AHR", "hgnc_symbol": "AHR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:17338246-17385776", "ensembl_id": "ENSG00000106546" } }, "GRch38": { "90": { "location": "7:17298622-17346152", "ensembl_id": "ENSG00000106546" } } }, "hgnc_date_symbol_changed": "1993-05-18" }, "entity_type": "gene", "entity_name": "AHR", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29726989", "31896775", "38922562" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Retinitis pigmentosa 85 MIM#618345", "Foveal hypoplasia 3, MIM# 620958" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "D6Mm5e", "SPATA37" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25183", "gene_name": "meiosis 1 associated protein", "omim_gene": null, "alias_name": [ "meiosis 1 arresting protein", "spermatogenesis associated 37" ], "gene_symbol": "M1AP", "hgnc_symbol": "M1AP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74785010-74875465", "ensembl_id": "ENSG00000159374" } }, "GRch38": { "90": { "location": "2:74557883-74648338", "ensembl_id": "ENSG00000159374" } } }, "hgnc_date_symbol_changed": "2013-01-16" }, "entity_type": "gene", "entity_name": "M1AP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32673564" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 48, MIM# 619108", "non-obstructive azoospermia (NOA)", "severe spermatogenic failure", "male infertility" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CGRPR", "CRLR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16709", "gene_name": "calcitonin receptor like receptor", "omim_gene": [ "114190" ], "alias_name": null, "gene_symbol": "CALCRL", "hgnc_symbol": "CALCRL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:188207856-188313187", "ensembl_id": "ENSG00000064989" } }, "GRch38": { "90": { "location": "2:187343129-187448460", "ensembl_id": "ENSG00000064989" } } }, "hgnc_date_symbol_changed": "2001-10-02" }, "entity_type": "gene", "entity_name": "CALCRL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30115739" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "?Lymphatic malformation 8 (MIM# 618773)", "hydrops fetalis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "P-dlg", "KIAA0583" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2904", "gene_name": "discs large MAGUK scaffold protein 5", "omim_gene": [ "604090" ], "alias_name": null, "gene_symbol": "DLG5", "hgnc_symbol": "DLG5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:79550549-79686378", "ensembl_id": "ENSG00000151208" } }, "GRch38": { "90": { "location": "10:77790791-77926526", "ensembl_id": "ENSG00000151208" } } }, "hgnc_date_symbol_changed": "1999-02-23" }, "entity_type": "gene", "entity_name": "DLG5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32631816" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Yuksel-Vogel-Bauer syndrome, MIM#620703" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11184", "gene_name": "sorbitol dehydrogenase", "omim_gene": [ "182500" ], "alias_name": null, "gene_symbol": "SORD", "hgnc_symbol": "SORD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:45315302-45369383", "ensembl_id": "ENSG00000140263" } }, "GRch38": { "90": { "location": "15:45023104-45077185", "ensembl_id": "ENSG00000140263" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "SORD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32367058" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "isolated hereditary neuropathy", "Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9904", "gene_name": "RNA binding motif protein 7", "omim_gene": [ "612413" ], "alias_name": null, "gene_symbol": "RBM7", "hgnc_symbol": "RBM7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:114270752-114284925", "ensembl_id": "ENSG00000076053" } }, "GRch38": { "90": { "location": "11:114400030-114414203", "ensembl_id": "ENSG00000076053" } } }, "hgnc_date_symbol_changed": "1998-10-01" }, "entity_type": "gene", "entity_name": "RBM7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27193168" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "SMA-like spinal motor neuropathy", "dHMN/dSMA" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0751", "RIM2", "OBOE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17283", "gene_name": "regulating synaptic membrane exocytosis 2", "omim_gene": [ "606630" ], "alias_name": null, "gene_symbol": "RIMS2", "hgnc_symbol": "RIMS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:104512976-105268322", "ensembl_id": "ENSG00000176406" } }, "GRch38": { "90": { "location": "8:103500748-104256094", "ensembl_id": "ENSG00000176406" } } }, "hgnc_date_symbol_changed": "2002-06-14" }, "entity_type": "gene", "entity_name": "RIMS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32470375" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "nystagmus", "retinal dysfunction", "autism", "night blindness", "Cone-rod synaptic disorder syndrome, congenital nonprogressive\t, MIM#618970" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LIN41", "LIN-41" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32669", "gene_name": "tripartite motif containing 71", "omim_gene": null, "alias_name": null, "gene_symbol": "TRIM71", "hgnc_symbol": "TRIM71", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:32859510-32939318", "ensembl_id": "ENSG00000206557" } }, "GRch38": { "90": { "location": "3:32818018-32897826", "ensembl_id": "ENSG00000206557" } } }, "hgnc_date_symbol_changed": "2006-03-30" }, "entity_type": "gene", "entity_name": "TRIM71", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29983323", "32168371", "30975633", "40892928" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital hydrocephalus 4 (MIM#618667)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2158", "gene_name": "2',3'-cyclic nucleotide 3' phosphodiesterase", "omim_gene": [ "123830" ], "alias_name": null, "gene_symbol": "CNP", "hgnc_symbol": "CNP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40118759-40129749", "ensembl_id": "ENSG00000173786" } }, "GRch38": { "90": { "location": "17:41966741-41977731", "ensembl_id": "ENSG00000173786" } } }, "hgnc_date_symbol_changed": "1991-07-15" }, "entity_type": "gene", "entity_name": "CNP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32128616", "12590258", "40396300" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 20, MIM# 619071" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16421", "gene_name": "SRY-box 6", "omim_gene": [ "607257" ], "alias_name": null, "gene_symbol": "SOX6", "hgnc_symbol": "SOX6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:15987995-16761138", "ensembl_id": "ENSG00000110693" } }, "GRch38": { "90": { "location": "11:15966449-16739591", "ensembl_id": "ENSG00000110693" } } }, "hgnc_date_symbol_changed": "2002-02-15" }, "entity_type": "gene", "entity_name": "SOX6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32442410" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "ADHD", "Craniosynostosis", "Osteochondromas", "Tolchin-Le Caignec syndrome, MIM#618971" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ31208", "ARHGEF29" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23222", "gene_name": "spermatogenesis associated 13", "omim_gene": [ "613324" ], "alias_name": null, "gene_symbol": "SPATA13", "hgnc_symbol": "SPATA13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:24553944-24881212", "ensembl_id": "ENSG00000182957" } }, "GRch38": { "90": { "location": "13:23979805-24307074", "ensembl_id": "ENSG00000182957" } } }, "hgnc_date_symbol_changed": "2003-10-20" }, "entity_type": "gene", "entity_name": "SPATA13", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32339198" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "primary angle-closure glaucoma MONDO:0001868" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0359", "FLA8", "KLP-11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6320", "gene_name": "kinesin family member 3B", "omim_gene": [ "603754" ], "alias_name": null, "gene_symbol": "KIF3B", "hgnc_symbol": "KIF3B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:30865467-30922814", "ensembl_id": "ENSG00000101350" } }, "GRch38": { "90": { "location": "20:32277664-32335011", "ensembl_id": "ENSG00000101350" } } }, "hgnc_date_symbol_changed": "1999-07-06" }, "entity_type": "gene", "entity_name": "KIF3B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32386558" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "hepatic fibrosis", "retinitis pigmentosa", "postaxial polydactyly", "Retinitis pigmentosa 89, MIM#618955" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ35779", "MGC120442", "MGC120443", "MGC120444", "hPOC5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26658", "gene_name": "POC5 centriolar protein", "omim_gene": null, "alias_name": null, "gene_symbol": "POC5", "hgnc_symbol": "POC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:74969949-75013313", "ensembl_id": "ENSG00000152359" } }, "GRch38": { "90": { "location": "5:75674124-75717481", "ensembl_id": "ENSG00000152359" } } }, "hgnc_date_symbol_changed": "2010-03-26" }, "entity_type": "gene", "entity_name": "POC5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25642776", "29272404", "40590205" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ciliopathy, MONDO:0005308, POC5-related", "Scoliosis, MONDO:0005392, POC5-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HU-K4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17158", "gene_name": "phospholipase D family member 3", "omim_gene": [ "615698" ], "alias_name": null, "gene_symbol": "PLD3", "hgnc_symbol": "PLD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:40854363-40886346", "ensembl_id": "ENSG00000105223" } }, "GRch38": { "90": { "location": "19:40348456-40380439", "ensembl_id": "ENSG00000105223" } } }, "hgnc_date_symbol_changed": "2003-01-06" }, "entity_type": "gene", "entity_name": "PLD3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29053796", "30312375", "30312384" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 46 MIM#617770" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PGIV", "MGC793" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7692", "gene_name": "NADH:ubiquinone oxidoreductase subunit A8", "omim_gene": [ "603359" ], "alias_name": [ "complex I PGIV subunit" ], "gene_symbol": "NDUFA8", "hgnc_symbol": "NDUFA8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:124894745-124922098", "ensembl_id": "ENSG00000119421" } }, "GRch38": { "90": { "location": "9:122144058-122159819", "ensembl_id": "ENSG00000119421" } } }, "hgnc_date_symbol_changed": "1997-12-17" }, "entity_type": "gene", "entity_name": "NDUFA8", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32385911", "33153867" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272", "Developmental delay", "microcehaly", "seizures" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp686F2227", "MGC26733" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28385", "gene_name": "von Willebrand factor A domain containing 3B", "omim_gene": [ "614884" ], "alias_name": null, "gene_symbol": "VWA3B", "hgnc_symbol": "VWA3B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:98703579-98929762", "ensembl_id": "ENSG00000168658" } }, "GRch38": { "90": { "location": "2:98087116-98313299", "ensembl_id": "ENSG00000168658" } } }, "hgnc_date_symbol_changed": "2007-08-14" }, "entity_type": "gene", "entity_name": "VWA3B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26157035", "41673450", "37772257" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 22 MIM#616948" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ23186", "TTMP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26255", "gene_name": "chromosome 3 open reading frame 52", "omim_gene": [ "611956" ], "alias_name": [ "TPA induced trans-membrane protein" ], "gene_symbol": "C3orf52", "hgnc_symbol": "C3orf52", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:111805182-111849851", "ensembl_id": "ENSG00000114529" } }, "GRch38": { "90": { "location": "3:112086335-112131004", "ensembl_id": "ENSG00000114529" } } }, "hgnc_date_symbol_changed": "2006-01-30" }, "entity_type": "gene", "entity_name": "C3orf52", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32336749" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Hypotrichosis-15, MIM#620177" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1360", "CVAK104" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19286", "gene_name": "SCY1 like pseudokinase 2", "omim_gene": [ "616365" ], "alias_name": [ "coated vesicle-associated kinase of 104 kDa" ], "gene_symbol": "SCYL2", "hgnc_symbol": "SCYL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:100660918-100735502", "ensembl_id": "ENSG00000136021" } }, "GRch38": { "90": { "location": "12:100267140-100341724", "ensembl_id": "ENSG00000136021" } } }, "hgnc_date_symbol_changed": "2005-01-20" }, "entity_type": "gene", "entity_name": "SCYL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31960134", "26203146" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Arthrogryposis multiplex congenita (AMC)", "Zain syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16993", "gene_name": "Sec61 translocon beta subunit", "omim_gene": [ "609214" ], "alias_name": null, "gene_symbol": "SEC61B", "hgnc_symbol": "SEC61B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:101984346-101992897", "ensembl_id": "ENSG00000106803" } }, "GRch38": { "90": { "location": "9:99222064-99230615", "ensembl_id": "ENSG00000106803" } } }, "hgnc_date_symbol_changed": "2003-10-13" }, "entity_type": "gene", "entity_name": "SEC61B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28862642", "30652979", "28375157" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Polycystic liver disease with or without renal cysts" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HumORF8", "KIAA0055", "UBPY", "SPG59" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12631", "gene_name": "ubiquitin specific peptidase 8", "omim_gene": [ "603158" ], "alias_name": null, "gene_symbol": "USP8", "hgnc_symbol": "USP8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:50716577-50793280", "ensembl_id": "ENSG00000138592" } }, "GRch38": { "90": { "location": "15:50424380-50514419", "ensembl_id": "ENSG00000138592" } } }, "hgnc_date_symbol_changed": "1999-02-01" }, "entity_type": "gene", "entity_name": "USP8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25675982", "24482476", "25485838", "25942478" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Pituitary adenoma 4, ACTH-secreting, somatic MIM#219090", "hereditary spastic paraplegia" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "somatic" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "H4/e", "H4F2iv" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4785", "gene_name": "histone cluster 1 H4 family member j", "omim_gene": [ "602826" ], "alias_name": null, "gene_symbol": "HIST1H4J", "hgnc_symbol": "HIST1H4J", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:27791884-27792257", "ensembl_id": "ENSG00000197238" } }, "GRch38": { "90": { "location": "6:27824108-27824480", "ensembl_id": "ENSG00000197238" } } }, "hgnc_date_symbol_changed": "2003-02-14" }, "entity_type": "gene", "entity_name": "HIST1H4J", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31804630", "35202563" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Strap" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19274", "gene_name": "tetratricopeptide repeat domain 5", "omim_gene": null, "alias_name": null, "gene_symbol": "TTC5", "hgnc_symbol": "TTC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:20724717-20774153", "ensembl_id": "ENSG00000136319" } }, "GRch38": { "90": { "location": "14:20256558-20305994", "ensembl_id": "ENSG00000136319" } } }, "hgnc_date_symbol_changed": "2003-11-25" }, "entity_type": "gene", "entity_name": "TTC5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29302074", "32439809" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244", "Central hypotonia", "Global developmental delay", "Intellectual disability", "Abnormality of nervous system morphology", "Microcephaly", "Abnormality of the face", "Behavioral abnormality", "Abnormality of the genitourinary system" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CEZANNE2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20718", "gene_name": "OTU deubiquitinase 7A", "omim_gene": [ "612024" ], "alias_name": null, "gene_symbol": "OTUD7A", "hgnc_symbol": "OTUD7A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:31775329-32162992", "ensembl_id": "ENSG00000169918" } }, "GRch38": { "90": { "location": "15:31475398-31870789", "ensembl_id": "ENSG00000169918" } } }, "hgnc_date_symbol_changed": "2006-07-07" }, "entity_type": "gene", "entity_name": "OTUD7A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31997314", "29395075", "29395074", "33381903", "36180924", "41028987" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GCN2", "KIAA1338" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19687", "gene_name": "eukaryotic translation initiation factor 2 alpha kinase 4", "omim_gene": [ "609280" ], "alias_name": null, "gene_symbol": "EIF2AK4", "hgnc_symbol": "EIF2AK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40226347-40327797", "ensembl_id": "ENSG00000128829" } }, "GRch38": { "90": { "location": "15:39934146-40035591", "ensembl_id": "ENSG00000128829" } } }, "hgnc_date_symbol_changed": "2002-11-11" }, "entity_type": "gene", "entity_name": "EIF2AK4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24292273", "24135949", "25512148", "28972005" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Pulmonary venoocclusive disease 2, MIM#234810" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TCF1ALPHA", "TCF10", "TCF7L3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6551", "gene_name": "lymphoid enhancer binding factor 1", "omim_gene": [ "153245" ], "alias_name": null, "gene_symbol": "LEF1", "hgnc_symbol": "LEF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:108968701-109090112", "ensembl_id": "ENSG00000138795" } }, "GRch38": { "90": { "location": "4:108047545-108168956", "ensembl_id": "ENSG00000138795" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "LEF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32022899", "35583550" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ectodermal dysplasia 17 with or without limb malformations, MIM#\t621224" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DCRA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3044", "gene_name": "DSCR3 arrestin fold containing", "omim_gene": [ "605298" ], "alias_name": null, "gene_symbol": "DSCR3", "hgnc_symbol": "DSCR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:38595721-38640262", "ensembl_id": "ENSG00000157538" } }, "GRch38": { "90": { "location": "21:37223420-37267919", "ensembl_id": "ENSG00000157538" } } }, "hgnc_date_symbol_changed": "2000-03-06" }, "entity_type": "gene", "entity_name": "DSCR3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31845315" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO:0700092), DSCR3-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AC6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:237", "gene_name": "adenylate cyclase 6", "omim_gene": [ "600294" ], "alias_name": null, "gene_symbol": "ADCY6", "hgnc_symbol": "ADCY6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49159975-49182820", "ensembl_id": "ENSG00000174233" } }, "GRch38": { "90": { "location": "12:48766194-48789037", "ensembl_id": "ENSG00000174233" } } }, "hgnc_date_symbol_changed": "1994-07-22" }, "entity_type": "gene", "entity_name": "ADCY6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24319099", "26257172", "31846058", "33820833" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lethal congenital contracture syndrome 8, OMIM # 616287", "MONDO:0014570" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PIGPC1", "dJ496H19.1", "KCP1", "THW", "KRTCAP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17637", "gene_name": "PERP, TP53 apoptosis effector", "omim_gene": [ "609301" ], "alias_name": [ "keratinocyte associated protein 1" ], "gene_symbol": "PERP", "hgnc_symbol": "PERP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:138409642-138428648", "ensembl_id": "ENSG00000112378" } }, "GRch38": { "90": { "location": "6:138088505-138107511", "ensembl_id": "ENSG00000112378" } } }, "hgnc_date_symbol_changed": "2003-11-19" }, "entity_type": "gene", "entity_name": "PERP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31898316", "30321533", "31361044" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Olmsted syndrome 2, MIM# 619208", "Erythrokeratodermia variabilis et progressiva 7, MIM# 619209" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GLUR7", "GPRC1G", "mGlu7", "MGLUR7", "PPP1R87" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4599", "gene_name": "glutamate metabotropic receptor 7", "omim_gene": [ "604101" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 87" ], "gene_symbol": "GRM7", "hgnc_symbol": "GRM7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:6811688-7783215", "ensembl_id": "ENSG00000196277" } }, "GRch38": { "90": { "location": "3:6770001-7741533", "ensembl_id": "ENSG00000196277" } } }, "hgnc_date_symbol_changed": "1995-10-11" }, "entity_type": "gene", "entity_name": "GRM7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32286009", "32248644" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epilepsy, microcephaly, developmental delay", "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Rb2", "p130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9894", "gene_name": "RB transcriptional corepressor like 2", "omim_gene": [ "180203" ], "alias_name": null, "gene_symbol": "RBL2", "hgnc_symbol": "RBL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:53467889-53525561", "ensembl_id": "ENSG00000103479" } }, "GRch38": { "90": { "location": "16:53433977-53491649", "ensembl_id": "ENSG00000103479" } } }, "hgnc_date_symbol_changed": "1994-01-17" }, "entity_type": "gene", "entity_name": "RBL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32105419", "9806916" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual disability", "Brunet-Wagner neurodevelopmental syndrome, MIM# 619690" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC8530" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8067", "gene_name": "nucleoporin 88", "omim_gene": [ "602552" ], "alias_name": null, "gene_symbol": "NUP88", "hgnc_symbol": "NUP88", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:5264258-5323480", "ensembl_id": "ENSG00000108559" } }, "GRch38": { "90": { "location": "17:5360963-5420160", "ensembl_id": "ENSG00000108559" } } }, "hgnc_date_symbol_changed": "1998-05-01" }, "entity_type": "gene", "entity_name": "NUP88", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30543681" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Fetal akinesia deformation sequence 4, MIM# 618393" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC16824" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24641", "gene_name": "chromosome 16 open reading frame 62", "omim_gene": null, "alias_name": null, "gene_symbol": "C16orf62", "hgnc_symbol": "C16orf62", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:19566562-19718115", "ensembl_id": "ENSG00000103544" } }, "GRch38": { "90": { "location": "16:19555240-19706793", "ensembl_id": "ENSG00000103544" } } }, "hgnc_date_symbol_changed": "2007-10-22" }, "entity_type": "gene", "entity_name": "C16orf62", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25434475" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PMSB1", "HC5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9537", "gene_name": "proteasome subunit beta 1", "omim_gene": [ "602017" ], "alias_name": null, "gene_symbol": "PSMB1", "hgnc_symbol": "PSMB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:170844205-170862429", "ensembl_id": "ENSG00000008018" } }, "GRch38": { "90": { "location": "6:170535117-170553341", "ensembl_id": "ENSG00000008018" } } }, "hgnc_date_symbol_changed": "1995-05-03" }, "entity_type": "gene", "entity_name": "PSMB1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32129449" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, PSMB1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PINCH2", "PINCH-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16084", "gene_name": "LIM zinc finger domain containing 2", "omim_gene": [ "607908" ], "alias_name": [ "particularly interesting new Cys-His protein 2" ], "gene_symbol": "LIMS2", "hgnc_symbol": "LIMS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:128395956-128439360", "ensembl_id": "ENSG00000072163" } }, "GRch38": { "90": { "location": "2:127638381-127681786", "ensembl_id": "ENSG00000072163" } } }, "hgnc_date_symbol_changed": "2001-07-26" }, "entity_type": "gene", "entity_name": "LIMS2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25589244", "16317048" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue MIM#616827" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Trif", "TRIMLESS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17857", "gene_name": "tripartite motif containing 69", "omim_gene": [ "616017" ], "alias_name": null, "gene_symbol": "TRIM69", "hgnc_symbol": "TRIM69", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:45021186-45060027", "ensembl_id": "ENSG00000185880" } }, "GRch38": { "90": { "location": "15:44728988-44767829", "ensembl_id": "ENSG00000185880" } } }, "hgnc_date_symbol_changed": "2006-09-26" }, "entity_type": "gene", "entity_name": "TRIM69", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22105173" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Susceptibility to herpes simplex encephalitis" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10485", "gene_name": "ryanodine receptor 3", "omim_gene": [ "180903" ], "alias_name": null, "gene_symbol": "RYR3", "hgnc_symbol": "RYR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:33603163-34158303", "ensembl_id": "ENSG00000198838" } }, "GRch38": { "90": { "location": "15:33310945-33866121", "ensembl_id": "ENSG00000198838" } } }, "hgnc_date_symbol_changed": "1993-05-12" }, "entity_type": "gene", "entity_name": "RYR3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29498452", "32451403", "31230720", "39762984", "41022857", "39840699", "39220738", "25262651", "29667327" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "congenital heart disease MONDO:0005453", "Congenital myopathy 20, MIM# 620310", "developmental and epileptic encephalopathy (MONDO:0100062)" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0735", "HsT19680" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16874", "gene_name": "synaptic vesicle glycoprotein 2B", "omim_gene": [ "185861" ], "alias_name": null, "gene_symbol": "SV2B", "hgnc_symbol": "SV2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:91643180-91844539", "ensembl_id": "ENSG00000185518" } }, "GRch38": { "90": { "location": "15:91099950-91301309", "ensembl_id": "ENSG00000185518" } } }, "hgnc_date_symbol_changed": "2003-02-24" }, "entity_type": "gene", "entity_name": "SV2B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23617838", "23937191" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "seizures" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MP2", "FABP8", "M-FABP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9117", "gene_name": "peripheral myelin protein 2", "omim_gene": [ "170715" ], "alias_name": null, "gene_symbol": "PMP2", "hgnc_symbol": "PMP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:82352561-82359758", "ensembl_id": "ENSG00000147588" } }, "GRch38": { "90": { "location": "8:81440326-81447523", "ensembl_id": "ENSG00000147588" } } }, "hgnc_date_symbol_changed": "1992-11-10" }, "entity_type": "gene", "entity_name": "PMP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "26257172", "26828946", "27009151" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Charcot-Marie-Tooth disease, demyelinating, type 1G\tMIM#618279" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AIP1", "ARMER", "KIAA0069", "SPG61" ], "biotype": "protein_coding", "hgnc_id": "HGNC:697", "gene_name": "ADP ribosylation factor like GTPase 6 interacting protein 1", "omim_gene": [ "607669" ], "alias_name": null, "gene_symbol": "ARL6IP1", "hgnc_symbol": "ARL6IP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:18802991-18813000", "ensembl_id": "ENSG00000170540" } }, "GRch38": { "90": { "location": "16:18791667-18801678", "ensembl_id": "ENSG00000170540" } } }, "hgnc_date_symbol_changed": "2006-09-26" }, "entity_type": "gene", "entity_name": "ARL6IP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24482476", "31272422", "30980493", "28471035" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spastic paraplegia 61, autosomal recessive MIM#615685" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "H326", "FLJ35857" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24891", "gene_name": "DDB1 and CUL4 associated factor 8", "omim_gene": [ "615820" ], "alias_name": null, "gene_symbol": "DCAF8", "hgnc_symbol": "DCAF8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:160185505-160254920", "ensembl_id": "ENSG00000132716" } }, "GRch38": { "90": { "location": "1:160215715-160262531", "ensembl_id": "ENSG00000132716" } } }, "hgnc_date_symbol_changed": "2009-07-17" }, "entity_type": "gene", "entity_name": "DCAF8", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24500646" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Giant axonal neuropathy 2, autosomal dominant MIM#610100" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "C2F", "NEP1", "Grcc2f" ], "biotype": null, "hgnc_id": "HGNC:16912", "gene_name": "EMG1, N1-specific pseudouridine methyltransferase", "omim_gene": [ "611531" ], "alias_name": null, "gene_symbol": "EMG1", "hgnc_symbol": "EMG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7072408-7105520", "ensembl_id": "ENSG00000126749" } }, "GRch38": { "90": { "location": "12:6970893-6979941", "ensembl_id": "ENSG00000126749" } } }, "hgnc_date_symbol_changed": "2006-01-12" }, "entity_type": "gene", "entity_name": "EMG1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19463982" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Bowen-Conradi syndrome, MIM#211180" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ41564", "PAWS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32554", "gene_name": "family with sequence similarity 83 member G", "omim_gene": [ "615886" ], "alias_name": [ "protein associated with SMAD1" ], "gene_symbol": "FAM83G", "hgnc_symbol": "FAM83G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:18872102-18908117", "ensembl_id": "ENSG00000188522" } }, "GRch38": { "90": { "location": "17:18968789-19004804", "ensembl_id": "ENSG00000188522" } } }, "hgnc_date_symbol_changed": "2006-03-22" }, "entity_type": "gene", "entity_name": "FAM83G", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41384122", "39449644", "39043225", "29138053" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hereditary palmoplantar keratoderma, MONDO:0019272, FAM83G-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12009", "gene_name": "triosephosphate isomerase 1", "omim_gene": [ "190450" ], "alias_name": null, "gene_symbol": "TPI1", "hgnc_symbol": "TPI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6976283-6980112", "ensembl_id": "ENSG00000111669" } }, "GRch38": { "90": { "location": "12:6867119-6870948", "ensembl_id": "ENSG00000111669" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TPI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hemolytic anemia due to triosephosphate isomerase deficiency, MIM#\t615512" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MER3", "FLJ39011", "FLJ36760" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20193", "gene_name": "HFM1, ATP dependent DNA helicase homolog", "omim_gene": [ "615684" ], "alias_name": null, "gene_symbol": "HFM1", "hgnc_symbol": "HFM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:91726323-91870426", "ensembl_id": "ENSG00000162669" } }, "GRch38": { "90": { "location": "1:91260766-91404869", "ensembl_id": "ENSG00000162669" } } }, "hgnc_date_symbol_changed": "2005-07-29" }, "entity_type": "gene", "entity_name": "HFM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23555294", "24597873", "31279343" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Premature ovarian failure 9 MIM#615724" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NOHLH", "TEB2", "bA100C15.3", "bHLHe80", "SPATA27" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27845", "gene_name": "spermatogenesis and oogenesis specific basic helix-loop-helix 1", "omim_gene": [ "610224" ], "alias_name": [ "spermatogenesis associated 27" ], "gene_symbol": "SOHLH1", "hgnc_symbol": "SOHLH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:138585253-138591374", "ensembl_id": "ENSG00000165643" } }, "GRch38": { "90": { "location": "9:135693407-135699528", "ensembl_id": "ENSG00000165643" } } }, "hgnc_date_symbol_changed": "2006-03-16" }, "entity_type": "gene", "entity_name": "SOHLH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25774885", "16690745", "31042289", "20506135", "28718531" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Ovarian dysgenesis 5 MIM#617690", "Spermatogenic failure 32 MIM#618115" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11356", "gene_name": "stromal antigen 3", "omim_gene": [ "608489" ], "alias_name": null, "gene_symbol": "STAG3", "hgnc_symbol": "STAG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:99775186-99819111", "ensembl_id": "ENSG00000066923" } }, "GRch38": { "90": { "location": "7:100177563-100221488", "ensembl_id": "ENSG00000066923" } } }, "hgnc_date_symbol_changed": "1999-04-29" }, "entity_type": "gene", "entity_name": "STAG3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24597867", "26059840", "31803224", "31363903", "31125047", "31682730", "32634216" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Premature ovarian failure 8 MIM#615723", "Spermatogenic failure 61, MIM# 619672" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "dJ881L22.2", "FIT2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16135", "gene_name": "fat storage inducing transmembrane protein 2", "omim_gene": [ "612029" ], "alias_name": [ "fat inducing transcript 2" ], "gene_symbol": "FITM2", "hgnc_symbol": "FITM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:42931478-42939809", "ensembl_id": "ENSG00000197296" } }, "GRch38": { "90": { "location": "20:44302838-44311169", "ensembl_id": "ENSG00000197296" } } }, "hgnc_date_symbol_changed": "2009-04-29" }, "entity_type": "gene", "entity_name": "FITM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28067622", "30214770", "30288795" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Siddiqi syndrome MIM#618635", "dystonia", "deafness" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "C-P4Halpha(I)" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8546", "gene_name": "prolyl 4-hydroxylase subunit alpha 1", "omim_gene": [ "176710" ], "alias_name": [ "collagen prolyl 4-hydroxylase alpha(I)" ], "gene_symbol": "P4HA1", "hgnc_symbol": "P4HA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:74766975-74856732", "ensembl_id": "ENSG00000122884" } }, "GRch38": { "90": { "location": "10:73007217-73096974", "ensembl_id": "ENSG00000122884" } } }, "hgnc_date_symbol_changed": "1999-02-23" }, "entity_type": "gene", "entity_name": "P4HA1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28419360" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Joint hypermobility", "Contractures", "Hypotonia", "Mild skeletal dysplasia without bone fragility", "High myopia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GM130", "golgin-95" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4425", "gene_name": "golgin A2", "omim_gene": [ "602580" ], "alias_name": [ "Golgi matrix protein GM130", "SY11 protein" ], "gene_symbol": "GOLGA2", "hgnc_symbol": "GOLGA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131018108-131038274", "ensembl_id": "ENSG00000167110" } }, "GRch38": { "90": { "location": "9:128255829-128275995", "ensembl_id": "ENSG00000167110" } } }, "hgnc_date_symbol_changed": "1997-11-05" }, "entity_type": "gene", "entity_name": "GOLGA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30237576", "26742501", "34424553" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GGPPS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4249", "gene_name": "geranylgeranyl diphosphate synthase 1", "omim_gene": [ "606982" ], "alias_name": null, "gene_symbol": "GGPS1", "hgnc_symbol": "GGPS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:235490665-235507847", "ensembl_id": "ENSG00000152904" } }, "GRch38": { "90": { "location": "1:235327350-235344532", "ensembl_id": "ENSG00000152904" } } }, "hgnc_date_symbol_changed": "1999-08-26" }, "entity_type": "gene", "entity_name": "GGPS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32403198" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518", "Muscular dystrophy", "Deafness", "Ovarian insufficiency" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDHF6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3050", "gene_name": "desmoglein 3", "omim_gene": [ "169615" ], "alias_name": [ "pemphigus vulgaris antigen" ], "gene_symbol": "DSG3", "hgnc_symbol": "DSG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:29027758-29058665", "ensembl_id": "ENSG00000134757" } }, "GRch38": { "90": { "location": "18:31447795-31478702", "ensembl_id": "ENSG00000134757" } } }, "hgnc_date_symbol_changed": "1992-08-25" }, "entity_type": "gene", "entity_name": "DSG3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26763450", "37850634", "30528827" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "UFO", "JTK11", "Tyro7", "ARK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:905", "gene_name": "AXL receptor tyrosine kinase", "omim_gene": [ "109135" ], "alias_name": null, "gene_symbol": "AXL", "hgnc_symbol": "AXL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:41725108-41767671", "ensembl_id": "ENSG00000167601" } }, "GRch38": { "90": { "location": "19:41219203-41261766", "ensembl_id": "ENSG00000167601" } } }, "hgnc_date_symbol_changed": "1992-09-15" }, "entity_type": "gene", "entity_name": "AXL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "18787040", "24476074" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Kallman syndrome, MONDO:0018800, AXL-related", "normosmic idiopathic hypogonadotropic hypogonadism" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NR3A2", "Erb", "ER-beta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3468", "gene_name": "estrogen receptor 2", "omim_gene": [ "601663" ], "alias_name": [ "ER beta", "estrogen receptor beta", "oestrogen receptor beta", "nuclear receptor subfamily 3 group A member 2" ], "gene_symbol": "ESR2", "hgnc_symbol": "ESR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:64550950-64804830", "ensembl_id": "ENSG00000140009" } }, "GRch38": { "90": { "location": "14:64084232-64338112", "ensembl_id": "ENSG00000140009" } } }, "hgnc_date_symbol_changed": "1997-01-17" }, "entity_type": "gene", "entity_name": "ESR2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29261182", "9861029", "30113650" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "46,XY disorder of sex development", "Ovarian dysgenesis 8, MIM# 618187" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1010", "Tuba", "ARHGEF36" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30373", "gene_name": "dynamin binding protein", "omim_gene": [ "611282" ], "alias_name": [ "scaffold protein TUBA" ], "gene_symbol": "DNMBP", "hgnc_symbol": "DNMBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:101635334-101769676", "ensembl_id": "ENSG00000107554" } }, "GRch38": { "90": { "location": "10:99875577-100009919", "ensembl_id": "ENSG00000107554" } } }, "hgnc_date_symbol_changed": "2004-04-05" }, "entity_type": "gene", "entity_name": "DNMBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30290152" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cataract 48, MIM#618415" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CRYG5", "CRY-g-A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2408", "gene_name": "crystallin gamma A", "omim_gene": [ "123660" ], "alias_name": [ "gamma crystallin 5" ], "gene_symbol": "CRYGA", "hgnc_symbol": "CRYGA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:209025464-209028300", "ensembl_id": "ENSG00000168582" } }, "GRch38": { "90": { "location": "2:208160740-208163576", "ensembl_id": "ENSG00000168582" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CRYGA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30450742", "28839118" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Cataract" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC10612" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23437", "gene_name": "aldo-keto reductase family 1 member E2", "omim_gene": [ "617451" ], "alias_name": null, "gene_symbol": "AKR1E2", "hgnc_symbol": "AKR1E2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:4828821-4890254", "ensembl_id": "ENSG00000165568" } }, "GRch38": { "90": { "location": "10:4786629-4848062", "ensembl_id": "ENSG00000165568" } } }, "hgnc_date_symbol_changed": "2009-09-09" }, "entity_type": "gene", "entity_name": "AKR1E2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26622071" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Cataract, MONDO:0005129, AKR1E2-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1401", "gene_name": "calcium voltage-gated channel auxiliary subunit beta 1", "omim_gene": [ "114207" ], "alias_name": null, "gene_symbol": "CACNB1", "hgnc_symbol": "CACNB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:37329709-37353956", "ensembl_id": "ENSG00000067191" } }, "GRch38": { "90": { "location": "17:39173456-39197703", "ensembl_id": "ENSG00000067191" } } }, "hgnc_date_symbol_changed": "1992-03-27" }, "entity_type": "gene", "entity_name": "CACNB1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27832566", "8943043", "29212769", "41023410" ], "evidence": [ "Expert Review Amber", "Other", "Expert list", "Royal Melbourne Hospital" ], "phenotypes": [ "Congenital muscular dystrophy MONDO:0020121", "Malignant hyperthermia susceptibility, MONDO:0800188, CACNB1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KLF14", "Epfn" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14530", "gene_name": "Sp6 transcription factor", "omim_gene": [ "608613" ], "alias_name": [ "epiprofin" ], "gene_symbol": "SP6", "hgnc_symbol": "SP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:45922279-45933240", "ensembl_id": "ENSG00000189120" } }, "GRch38": { "90": { "location": "17:47844908-47855874", "ensembl_id": "ENSG00000189120" } } }, "hgnc_date_symbol_changed": "2001-02-06" }, "entity_type": "gene", "entity_name": "SP6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32167558", "18156176", "18297738", "22676574", "33652941" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Amelogenesis imperfecta, type IK, MIM# 620104" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ45476" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29368", "gene_name": "cilia and flagella associated protein 74", "omim_gene": null, "alias_name": null, "gene_symbol": "CFAP74", "hgnc_symbol": "CFAP74", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:1853396-1935276", "ensembl_id": "ENSG00000142609" } }, "GRch38": { "90": { "location": "1:1921951-2003837", "ensembl_id": "ENSG00000142609" } } }, "hgnc_date_symbol_changed": "2014-09-04" }, "entity_type": "gene", "entity_name": "CFAP74", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32555313" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "ciliary dyskinesia, primary, 49, without situs inversus MONDO:0859353" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Taps", "SASPase", "FLJ25084" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26321", "gene_name": "aspartic peptidase retroviral like 1", "omim_gene": [ "611765" ], "alias_name": [ "Skin ASpartic Protease" ], "gene_symbol": "ASPRV1", "hgnc_symbol": "ASPRV1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:70187226-70189397", "ensembl_id": "ENSG00000244617" } }, "GRch38": { "90": { "location": "2:69960089-69962265", "ensembl_id": "ENSG00000244617" } } }, "hgnc_date_symbol_changed": "2008-02-20" }, "entity_type": "gene", "entity_name": "ASPRV1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32516568" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ichthyosis, lamellar, autosomal dominant, MIM# 146750", "palmoplantar keratoderma", "lamellar ichthyosis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SREBP1", "bHLHd1", "SREBP-1c", "SREBP1a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11289", "gene_name": "sterol regulatory element binding transcription factor 1", "omim_gene": [ "184756" ], "alias_name": null, "gene_symbol": "SREBF1", "hgnc_symbol": "SREBF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:17713713-17740325", "ensembl_id": "ENSG00000072310" } }, "GRch38": { "90": { "location": "17:17810399-17837002", "ensembl_id": "ENSG00000072310" } } }, "hgnc_date_symbol_changed": "1994-11-23" }, "entity_type": "gene", "entity_name": "SREBF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32497488", "31790666", "32902915" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "IFAP (ichthyosis follicularis, atrichia, and photophobia) syndrome 2, MIM619016", "Mucoepithelial dysplasia, hereditary, MIM#158310" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PC3B", "APRO3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13862", "gene_name": "BTG anti-proliferation factor 4", "omim_gene": [ "605673" ], "alias_name": null, "gene_symbol": "BTG4", "hgnc_symbol": "BTG4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:111338251-111383079", "ensembl_id": "ENSG00000137707" } }, "GRch38": { "90": { "location": "11:111467526-111512354", "ensembl_id": "ENSG00000137707" } } }, "hgnc_date_symbol_changed": "2000-11-15" }, "entity_type": "gene", "entity_name": "BTG4", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 32502391" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Zygotic cleavage failure (ZCF)", "Oocyte maturation defect, MIM#619009" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP761L0424", "SKT", "ETL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25428", "gene_name": "KIAA1217", "omim_gene": [ "617367" ], "alias_name": [ "sickle tail" ], "gene_symbol": "KIAA1217", "hgnc_symbol": "KIAA1217", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:23983675-24836772", "ensembl_id": "ENSG00000120549" } }, "GRch38": { "90": { "location": "10:23694746-24547848", "ensembl_id": "ENSG00000120549" } } }, "hgnc_date_symbol_changed": "2004-02-04" }, "entity_type": "gene", "entity_name": "KIAA1217", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32369272" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Skeletal system disorder MONDO:0005172, KIAA1217-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SmgGDS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9859", "gene_name": "Rap1 GTPase-GDP dissociation stimulator 1", "omim_gene": [ "179502" ], "alias_name": null, "gene_symbol": "RAP1GDS1", "hgnc_symbol": "RAP1GDS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:99182535-99365012", "ensembl_id": "ENSG00000138698" } }, "GRch38": { "90": { "location": "4:98261384-98443861", "ensembl_id": "ENSG00000138698" } } }, "hgnc_date_symbol_changed": "1994-03-23" }, "entity_type": "gene", "entity_name": "RAP1GDS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32431071", "33875846" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Alfadhel syndrome, MIM# 620655" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0366", "ADAMTS-4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:219", "gene_name": "ADAM metallopeptidase with thrombospondin type 1 motif 3", "omim_gene": [ "605011" ], "alias_name": null, "gene_symbol": "ADAMTS3", "hgnc_symbol": "ADAMTS3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:73146686-73434516", "ensembl_id": "ENSG00000156140" } }, "GRch38": { "90": { "location": "4:72280969-72569386", "ensembl_id": "ENSG00000156140" } } }, "hgnc_date_symbol_changed": "1999-04-15" }, "entity_type": "gene", "entity_name": "ADAMTS3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28985353", "30450763" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RE2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23694", "gene_name": "G protein-coupled receptor 161", "omim_gene": [ "612250" ], "alias_name": null, "gene_symbol": "GPR161", "hgnc_symbol": "GPR161", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:168053997-168106821", "ensembl_id": "ENSG00000143147" } }, "GRch38": { "90": { "location": "1:168079543-168137667", "ensembl_id": "ENSG00000143147" } } }, "hgnc_date_symbol_changed": "2003-12-01" }, "entity_type": "gene", "entity_name": "GPR161", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31609649" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Medulloblastoma predisposition syndrome MIM#155255" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp586M121", "gp115" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19880", "gene_name": "elastin microfibril interfacer 1", "omim_gene": [ "130660" ], "alias_name": null, "gene_symbol": "EMILIN1", "hgnc_symbol": "EMILIN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:27301435-27309271", "ensembl_id": "ENSG00000138080" } }, "GRch38": { "90": { "location": "2:27078567-27086408", "ensembl_id": "ENSG00000138080" } } }, "hgnc_date_symbol_changed": "2003-07-16" }, "entity_type": "gene", "entity_name": "EMILIN1", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 31978608", "26462740", "36351433" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neuronopathy, distal hereditary motor, type X, MIM# 620080", "Arterial tortuosity-bone fragility syndrome, MIM#\t620908" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nm23-H5", "RSPH23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7853", "gene_name": "NME/NM23 family member 5", "omim_gene": [ "603575" ], "alias_name": [ "radial spoke 23 homolog (Chlamydomonas)" ], "gene_symbol": "NME5", "hgnc_symbol": "NME5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:137450866-137475132", "ensembl_id": "ENSG00000112981" } }, "GRch38": { "90": { "location": "5:138115172-138139443", "ensembl_id": "ENSG00000112981" } } }, "hgnc_date_symbol_changed": "1998-02-26" }, "entity_type": "gene", "entity_name": "NME5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32185794", "33635012", "37296588", "37998386", "37957793", "41499646" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ciliary dyskinesia, primary, 48, without situs inversus MIM#620032" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Alix", "AIP1", "Hp95" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8766", "gene_name": "programmed cell death 6 interacting protein", "omim_gene": [ "608074" ], "alias_name": [ "ALG-2 interacting protein X" ], "gene_symbol": "PDCD6IP", "hgnc_symbol": "PDCD6IP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:33839844-33911194", "ensembl_id": "ENSG00000170248" } }, "GRch38": { "90": { "location": "3:33798352-33869707", "ensembl_id": "ENSG00000170248" } } }, "hgnc_date_symbol_changed": "1999-12-10" }, "entity_type": "gene", "entity_name": "PDCD6IP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32286682" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Microcephaly 29, primary, autosomal recessive, MIM# 620047", "Microcephaly", "intellectual disability" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hnRNPH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5041", "gene_name": "heterogeneous nuclear ribonucleoprotein H1", "omim_gene": [ "601035" ], "alias_name": null, "gene_symbol": "HNRNPH1", "hgnc_symbol": "HNRNPH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:179041179-179061785", "ensembl_id": "ENSG00000169045" } }, "GRch38": { "90": { "location": "5:179614178-179634784", "ensembl_id": "ENSG00000169045" } } }, "hgnc_date_symbol_changed": "2008-04-18" }, "entity_type": "gene", "entity_name": "HNRNPH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32335897", "29938792", "35989590" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "EXO70", "KIAA1067", "YJL085W", "Exo70p", "BLOM4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23214", "gene_name": "exocyst complex component 7", "omim_gene": [ "608163" ], "alias_name": null, "gene_symbol": "EXOC7", "hgnc_symbol": "EXOC7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:74077087-74117657", "ensembl_id": "ENSG00000182473" } }, "GRch38": { "90": { "location": "17:76081017-76121576", "ensembl_id": "ENSG00000182473" } } }, "hgnc_date_symbol_changed": "2004-01-13" }, "entity_type": "gene", "entity_name": "EXOC7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32103185" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with seizures and brain atrophy MIM#619072", "brain atrophy", "seizures", "developmental delay", "microcephaly" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PYPAF8", "MATER", "PAN11", "CLR19.8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21269", "gene_name": "NLR family pyrin domain containing 5", "omim_gene": [ "609658" ], "alias_name": [ "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5", "maternal antigen that embryos require" ], "gene_symbol": "NLRP5", "hgnc_symbol": "NLRP5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:56511092-56573179", "ensembl_id": "ENSG00000171487" } }, "GRch38": { "90": { "location": "19:55999726-56061813", "ensembl_id": "ENSG00000171487" } } }, "hgnc_date_symbol_changed": "2006-12-08" }, "entity_type": "gene", "entity_name": "NLRP5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32222962", "31829238", "30877238", "26323243", "34440388", "39887367" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Early embryonic arrest", "Multi locus imprinting disturbance in offspring", "Oocyte/zygote/embryo maturation arrest 19, MIM# 620333" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DXS9928E", "XAP5", "HXC-26", "9F" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18786", "gene_name": "family with sequence similarity 50 member A", "omim_gene": [ "300453" ], "alias_name": [ "DNA segment on chromosome X (unique) 9928 expressed sequence" ], "gene_symbol": "FAM50A", "hgnc_symbol": "FAM50A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153672473-153679002", "ensembl_id": "ENSG00000071859" } }, "GRch38": { "90": { "location": "X:154444126-154450654", "ensembl_id": "ENSG00000071859" } } }, "hgnc_date_symbol_changed": "2004-10-06" }, "entity_type": "gene", "entity_name": "FAM50A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32703943" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mental retardation syndrome, X-linked, Armfield type (MIM #300261)" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10812", "gene_name": "serum/glucocorticoid regulated kinase family member 3", "omim_gene": [ "607591" ], "alias_name": null, "gene_symbol": "SGK3", "hgnc_symbol": "SGK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:67624653-67774257", "ensembl_id": "ENSG00000104205" } }, "GRch38": { "90": { "location": "8:66712418-66862022", "ensembl_id": "ENSG00000104205" } } }, "hgnc_date_symbol_changed": "2005-09-13" }, "entity_type": "gene", "entity_name": "SGK3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31821448" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hypophosphatemic rickets" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IKBKBBP", "NIBP", "KIAA1882", "T1", "TRS120", "MRT13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30832", "gene_name": "trafficking protein particle complex 9", "omim_gene": [ "611966" ], "alias_name": [ "TRAPP 120 kDa subunit", "tularik gene 1" ], "gene_symbol": "TRAPPC9", "hgnc_symbol": "TRAPPC9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:140742586-141468678", "ensembl_id": "ENSG00000167632" } }, "GRch38": { "90": { "location": "8:139730343-140458579", "ensembl_id": "ENSG00000167632" } } }, "hgnc_date_symbol_changed": "2008-05-07" }, "entity_type": "gene", "entity_name": "TRAPPC9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22549410", "20004765", "20004763", "30853973", "29187737" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal recessive 13, MIM# 613192" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12261", "gene_name": "triadin", "omim_gene": [ "603283" ], "alias_name": null, "gene_symbol": "TRDN", "hgnc_symbol": "TRDN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:123537483-123958238", "ensembl_id": "ENSG00000186439" } }, "GRch38": { "90": { "location": "6:123216339-123637093", "ensembl_id": "ENSG00000186439" } } }, "hgnc_date_symbol_changed": "1999-12-17" }, "entity_type": "gene", "entity_name": "TRDN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31983240", "25922419", "30649896", "22422768" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TREM-2", "Trem2a", "Trem2b", "Trem2c" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17761", "gene_name": "triggering receptor expressed on myeloid cells 2", "omim_gene": [ "605086" ], "alias_name": null, "gene_symbol": "TREM2", "hgnc_symbol": "TREM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:41126244-41130924", "ensembl_id": "ENSG00000095970" } }, "GRch38": { "90": { "location": "6:41158506-41163186", "ensembl_id": "ENSG00000095970" } } }, "hgnc_date_symbol_changed": "2002-08-09" }, "entity_type": "gene", "entity_name": "TREM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12080485", "15883308" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193", "{Alzhieimer disease 17, susceptibility to}, MIM# 615080" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DRN3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12269", "gene_name": "three prime repair exonuclease 1", "omim_gene": [ "606609" ], "alias_name": null, "gene_symbol": "TREX1", "hgnc_symbol": "TREX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:48506445-48509044", "ensembl_id": "ENSG00000213689" } }, "GRch38": { "90": { "location": "3:48465811-48467645", "ensembl_id": "ENSG00000213689" } } }, "hgnc_date_symbol_changed": "2000-05-17" }, "entity_type": "gene", "entity_name": "TREX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "21937424" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Aicardi-Goutieres syndrome 1, dominant and recessive", "Chilblain lupus", "{Systemic lupus erythematosus, susceptibility to}", "Vasculopathy, retinal, with cerebral leukodystrophy" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12299", "gene_name": "thyrotropin releasing hormone receptor", "omim_gene": [ "188545" ], "alias_name": null, "gene_symbol": "TRHR", "hgnc_symbol": "TRHR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:110098850-110131813", "ensembl_id": "ENSG00000174417" } }, "GRch38": { "90": { "location": "8:109086621-109119584", "ensembl_id": "ENSG00000174417" } } }, "hgnc_date_symbol_changed": "1993-11-08" }, "entity_type": "gene", "entity_name": "TRHR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9141550", "19213692", "26735259", "28419241", "32319661" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0517", "RNF86", "CMT2R" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15974", "gene_name": "tripartite motif containing 2", "omim_gene": [ "614141" ], "alias_name": null, "gene_symbol": "TRIM2", "hgnc_symbol": "TRIM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:154073494-154260472", "ensembl_id": "ENSG00000109654" } }, "GRch38": { "90": { "location": "4:153152342-153339320", "ensembl_id": "ENSG00000109654" } } }, "hgnc_date_symbol_changed": "2001-07-18" }, "entity_type": "gene", "entity_name": "TRIM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23562820", "25893792", "18687884", "32815244", "32205255", "25893792" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Charcot-Marie-Tooth disease, type 2R, MIM# 615490", "MONDO:0014208" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hTIF1", "Tif1a", "RNF82", "TIF1A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11812", "gene_name": "tripartite motif containing 24", "omim_gene": [ "603406" ], "alias_name": null, "gene_symbol": "TRIM24", "hgnc_symbol": "TRIM24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:138145079-138274738", "ensembl_id": "ENSG00000122779" } }, "GRch38": { "90": { "location": "7:138460334-138589993", "ensembl_id": "ENSG00000122779" } } }, "hgnc_date_symbol_changed": "2005-06-02" }, "entity_type": "gene", "entity_name": "TRIM24", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RNF76" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9975", "gene_name": "tripartite motif containing 27", "omim_gene": [ "602165" ], "alias_name": null, "gene_symbol": "TRIM27", "hgnc_symbol": "TRIM27", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:28870779-28891766", "ensembl_id": "ENSG00000204713" } }, "GRch38": { "90": { "location": "6:28903002-28923989", "ensembl_id": "ENSG00000204713" } } }, "hgnc_date_symbol_changed": "2006-09-26" }, "entity_type": "gene", "entity_name": "TRIM27", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "parkinson's disease" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HT2A", "TATIP", "BBS11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16380", "gene_name": "tripartite motif containing 32", "omim_gene": [ "602290" ], "alias_name": null, "gene_symbol": "TRIM32", "hgnc_symbol": "TRIM32", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:119449581-119463579", "ensembl_id": "ENSG00000119401" } }, "GRch38": { "90": { "location": "9:116687302-116701300", "ensembl_id": "ENSG00000119401" } } }, "hgnc_date_symbol_changed": "2001-08-10" }, "entity_type": "gene", "entity_name": "TRIM32", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16606853", "31309175", "11822024" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 11, MIM# 615988", "Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TIF1GAMMA", "FLJ11429", "KIAA1113", "TIFGAMMA", "RFG7", "TF1G", "TIF1G", "PTC7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16290", "gene_name": "tripartite motif containing 33", "omim_gene": [ "605769" ], "alias_name": [ "transcriptional intermediary factor 1 gamma", "ret-fused gene 7" ], "gene_symbol": "TRIM33", "hgnc_symbol": "TRIM33", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:114935399-115053781", "ensembl_id": "ENSG00000197323" } }, "GRch38": { "90": { "location": "1:114392777-114511160", "ensembl_id": "ENSG00000197323" } } }, "hgnc_date_symbol_changed": "2001-08-10" }, "entity_type": "gene", "entity_name": "TRIM33", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "39054052" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Developmental dysplasia of the hip 4, MIM# 621311" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0898", "POB1", "TEF3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7523", "gene_name": "tripartite motif containing 37", "omim_gene": [ "605073" ], "alias_name": [ "RING-B-box-coiled-coil protein" ], "gene_symbol": "TRIM37", "hgnc_symbol": "TRIM37", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:57059999-57184282", "ensembl_id": "ENSG00000108395" } }, "GRch38": { "90": { "location": "17:58982638-59106921", "ensembl_id": "ENSG00000108395" } } }, "hgnc_date_symbol_changed": "2001-11-30" }, "entity_type": "gene", "entity_name": "TRIM37", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10888877", "12754710", "15108285", "14757854", "27044324" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mulibrey nanism, MIM# 253250" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GERP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15579", "gene_name": "tripartite motif containing 8", "omim_gene": [ "606125" ], "alias_name": [ "glioblastoma expressed ring finger protein" ], "gene_symbol": "TRIM8", "hgnc_symbol": "TRIM8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:104404253-104418164", "ensembl_id": "ENSG00000171206" } }, "GRch38": { "90": { "location": "10:102644496-102658407", "ensembl_id": "ENSG00000171206" } } }, "hgnc_date_symbol_changed": "2002-06-14" }, "entity_type": "gene", "entity_name": "TRIM8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30244534", "27346735", "23934111" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428", "Intellectual disability", "Seizures" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARHGEF23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12303", "gene_name": "trio Rho guanine nucleotide exchange factor", "omim_gene": [ "601893" ], "alias_name": null, "gene_symbol": "TRIO", "hgnc_symbol": "TRIO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:14143811-14532235", "ensembl_id": "ENSG00000038382" } }, "GRch38": { "90": { "location": "5:14143702-14532128", "ensembl_id": "ENSG00000038382" } } }, "hgnc_date_symbol_changed": "1997-01-29" }, "entity_type": "gene", "entity_name": "TRIO", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26721934", "32109419" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal dominant 44, MIM# 617061" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HRIHFB2122", "KIAA1662", "Tara", "TAP68" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17009", "gene_name": "TRIO and F-actin binding protein", "omim_gene": [ "609761" ], "alias_name": null, "gene_symbol": "TRIOBP", "hgnc_symbol": "TRIOBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:38093011-38172563", "ensembl_id": "ENSG00000100106" } }, "GRch38": { "90": { "location": "22:37697004-37776556", "ensembl_id": "ENSG00000100106" } } }, "hgnc_date_symbol_changed": "2005-10-04" }, "entity_type": "gene", "entity_name": "TRIOBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16385458", "16385457", "23226338", "27014650", "24853665", "27344577", "20510926" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Deafness, autosomal recessive 28, MIM# 609823" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CEV14", "Trip230", "GMAP-210", "GMAP210" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12305", "gene_name": "thyroid hormone receptor interactor 11", "omim_gene": [ "604505" ], "alias_name": [ "golgi-microtubule-associated-protein of 210 kDa" ], "gene_symbol": "TRIP11", "hgnc_symbol": "TRIP11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:92432335-92507240", "ensembl_id": "ENSG00000100815" } }, "GRch38": { "90": { "location": "14:91965991-92040896", "ensembl_id": "ENSG00000100815" } } }, "hgnc_date_symbol_changed": "1999-03-19" }, "entity_type": "gene", "entity_name": "TRIP11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31903676", "30728324" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Osteochondrodysplasia, 184260", "Achondrogenesis, type IA, 200600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0045" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12306", "gene_name": "thyroid hormone receptor interactor 12", "omim_gene": [ "604506" ], "alias_name": null, "gene_symbol": "TRIP12", "hgnc_symbol": "TRIP12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:230628554-230787955", "ensembl_id": "ENSG00000153827" } }, "GRch38": { "90": { "location": "2:229763838-229923239", "ensembl_id": "ENSG00000153827" } } }, "hgnc_date_symbol_changed": "1999-03-19" }, "entity_type": "gene", "entity_name": "TRIP12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27848077", "28251352" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null } ] }