Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=98
{ "count": 35535, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=99", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=97", "results": [ { "gene_data": { "alias": [ "IP3R3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6182", "gene_name": "inositol 1,4,5-trisphosphate receptor type 3", "omim_gene": [ "147267" ], "alias_name": null, "gene_symbol": "ITPR3", "hgnc_symbol": "ITPR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33588142-33664351", "ensembl_id": "ENSG00000096433" } }, "GRch38": { "90": { "location": "6:33620365-33696574", "ensembl_id": "ENSG00000096433" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "ITPR3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32949214", "24627108", "36302985", "39270020", "39560673" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111", "Combined immunodeficiency, MONDO:0015131, ITPR3-related", "Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "JEAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17811", "gene_name": "angiomotin like 1", "omim_gene": [ "614657" ], "alias_name": [ "junction-enriched and associated protein" ], "gene_symbol": "AMOTL1", "hgnc_symbol": "AMOTL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:94439597-94609918", "ensembl_id": "ENSG00000166025" } }, "GRch38": { "90": { "location": "11:94706431-94876753", "ensembl_id": "ENSG00000166025" } } }, "hgnc_date_symbol_changed": "2002-01-24" }, "entity_type": "gene", "entity_name": "AMOTL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33026150", "36751037" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Craniofaciocardiohepatic syndrome, MIM# 621192" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NEPH1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15734", "gene_name": "kirre like nephrin family adhesion molecule 1", "omim_gene": [ "607428" ], "alias_name": [ "nephrin-like protein 1" ], "gene_symbol": "KIRREL1", "hgnc_symbol": "KIRREL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:157963063-158070052", "ensembl_id": "ENSG00000183853" } }, "GRch38": { "90": { "location": "1:157993273-158100262", "ensembl_id": "ENSG00000183853" } } }, "hgnc_date_symbol_changed": "2017-06-08" }, "entity_type": "gene", "entity_name": "KIRREL1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31472902" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Nephrotic syndrome, type 23, MIM#\t619201" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14584", "gene_name": "VPS16, CORVET/HOPS core subunit", "omim_gene": [ "608550" ], "alias_name": null, "gene_symbol": "VPS16", "hgnc_symbol": "VPS16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:2821349-2847378", "ensembl_id": "ENSG00000215305" } }, "GRch38": { "90": { "location": "20:2840703-2866732", "ensembl_id": "ENSG00000215305" } } }, "hgnc_date_symbol_changed": "2009-07-07" }, "entity_type": "gene", "entity_name": "VPS16", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32808683", "33938619", "34013567", "34901436" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Dystonia 30, MIM#619291", "mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6074", "gene_name": "inositol polyphosphate-4-phosphatase type I A", "omim_gene": [ "600916" ], "alias_name": null, "gene_symbol": "INPP4A", "hgnc_symbol": "INPP4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:99061317-99210853", "ensembl_id": "ENSG00000040933" } }, "GRch38": { "90": { "location": "2:98444854-98594390", "ensembl_id": "ENSG00000040933" } } }, "hgnc_date_symbol_changed": "1993-10-14" }, "entity_type": "gene", "entity_name": "INPP4A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31978615", "31938306", "25338135", "20011524", "39315527" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLI", "FLIL", "Fli1", "MGC39265" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3750", "gene_name": "FLII, actin remodeling protein", "omim_gene": [ "600362" ], "alias_name": null, "gene_symbol": "FLII", "hgnc_symbol": "FLII", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:18148150-18162230", "ensembl_id": "ENSG00000177731" } }, "GRch38": { "90": { "location": "17:18244836-18258916", "ensembl_id": "ENSG00000177731" } } }, "hgnc_date_symbol_changed": "1995-10-11" }, "entity_type": "gene", "entity_name": "FLII", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32870709", "11971982", "32980309" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cardiomyopathy, dilated, 2J, MIM# 620635" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1099", "GGAP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16922", "gene_name": "ArfGAP with GTPase domain, ankyrin repeat and PH domain 1", "omim_gene": [ "608651" ], "alias_name": null, "gene_symbol": "AGAP1", "hgnc_symbol": "AGAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:236402733-237040444", "ensembl_id": "ENSG00000157985" } }, "GRch38": { "90": { "location": "2:235494089-236131800", "ensembl_id": "ENSG00000157985" } } }, "hgnc_date_symbol_changed": "2008-09-22" }, "entity_type": "gene", "entity_name": "AGAP1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31700678", "25666757", "30472483" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Cerebral palsy, MONDO:0006497, AGAP1-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "EGFR-RS", "FLJ2235", "Dist1", "iRhom1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20561", "gene_name": "rhomboid 5 homolog 1", "omim_gene": [ "614403" ], "alias_name": null, "gene_symbol": "RHBDF1", "hgnc_symbol": "RHBDF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:108058-126354", "ensembl_id": "ENSG00000007384" } }, "GRch38": { "90": { "location": "16:58059-76355", "ensembl_id": "ENSG00000007384" } } }, "hgnc_date_symbol_changed": "2003-04-07" }, "entity_type": "gene", "entity_name": "RHBDF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32870709" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Dilated cardiomyopathy" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RETL1", "GDNFR", "GFR-ALPHA-1", "RET1L", "TRNR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4243", "gene_name": "GDNF family receptor alpha 1", "omim_gene": [ "601496" ], "alias_name": null, "gene_symbol": "GFRA1", "hgnc_symbol": "GFRA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:117816444-118032979", "ensembl_id": "ENSG00000151892" } }, "GRch38": { "90": { "location": "10:116056925-116273467", "ensembl_id": "ENSG00000151892" } } }, "hgnc_date_symbol_changed": "1997-01-17" }, "entity_type": "gene", "entity_name": "GFRA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33020172", "34737117" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Renal hypodysplasia/aplasia 4, MIM# 619887" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "caMLCK", "MLCK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29826", "gene_name": "myosin light chain kinase 3", "omim_gene": [ "612147" ], "alias_name": [ "MLC kinase" ], "gene_symbol": "MYLK3", "hgnc_symbol": "MYLK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:46740891-46824319", "ensembl_id": "ENSG00000140795" } }, "GRch38": { "90": { "location": "16:46703369-46790407", "ensembl_id": "ENSG00000140795" } } }, "hgnc_date_symbol_changed": "2008-01-23" }, "entity_type": "gene", "entity_name": "MYLK3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29235529", "31244672", "32213617", "32870709" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Dilated cardiomyopathy" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IMP8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9853", "gene_name": "importin 8", "omim_gene": [ "605600" ], "alias_name": null, "gene_symbol": "IPO8", "hgnc_symbol": "IPO8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:30781922-30848920", "ensembl_id": "ENSG00000133704" } }, "GRch38": { "90": { "location": "12:30628988-30695986", "ensembl_id": "ENSG00000133704" } } }, "hgnc_date_symbol_changed": "2003-03-14" }, "entity_type": "gene", "entity_name": "IPO8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34010604" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472", "Loeys-Dietz syndrome-like", "cardiovascular, neurologic, skeletal and immunologic abnormalities" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GYF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9126", "gene_name": "GRB10 interacting GYF protein 1", "omim_gene": [ "612064" ], "alias_name": [ "GYF domain containing 1" ], "gene_symbol": "GIGYF1", "hgnc_symbol": "GIGYF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:100277130-100287071", "ensembl_id": "ENSG00000146830" } }, "GRch38": { "90": { "location": "7:100679507-100689448", "ensembl_id": "ENSG00000146830" } } }, "hgnc_date_symbol_changed": "2008-02-11" }, "entity_type": "gene", "entity_name": "GIGYF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33057194", "35917186" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autism spectrum disorder (MONDO:0005258), GIGYF1-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7988", "gene_name": "nebulin related anchoring protein", "omim_gene": [ "602873" ], "alias_name": null, "gene_symbol": "NRAP", "hgnc_symbol": "NRAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:115348475-115423886", "ensembl_id": "ENSG00000197893" } }, "GRch38": { "90": { "location": "10:113588716-113664127", "ensembl_id": "ENSG00000197893" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "NRAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33534821", "30384889", "28611399", "32870709" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Dilated cardiomyopathy" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SLP-76" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6529", "gene_name": "lymphocyte cytosolic protein 2", "omim_gene": [ "601603" ], "alias_name": [ "76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD" ], "gene_symbol": "LCP2", "hgnc_symbol": "LCP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:169673241-169725231", "ensembl_id": "ENSG00000043462" } }, "GRch38": { "90": { "location": "5:170246237-170298227", "ensembl_id": "ENSG00000043462" } } }, "hgnc_date_symbol_changed": "1996-03-12" }, "entity_type": "gene", "entity_name": "LCP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33231617", "36474126" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Immunodeficiency 81, MIM# 619374", "Severe combined immunodeficiency" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ34497", "PF6", "RP4-776P7.2", "CT143" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26620", "gene_name": "sperm associated antigen 17", "omim_gene": [ "616554" ], "alias_name": null, "gene_symbol": "SPAG17", "hgnc_symbol": "SPAG17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:118496484-118727846", "ensembl_id": "ENSG00000155761" } }, "GRch38": { "90": { "location": "1:117953861-118185223", "ensembl_id": "ENSG00000155761" } } }, "hgnc_date_symbol_changed": "2005-08-11" }, "entity_type": "gene", "entity_name": "SPAG17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28548327", "40330001", "39686771" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 55, MIM#619380" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC50811" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25062", "gene_name": "ciliogenesis associated TTC17 interacting protein", "omim_gene": null, "alias_name": null, "gene_symbol": "CATIP", "hgnc_symbol": "CATIP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:219221579-219232822", "ensembl_id": "ENSG00000158428" } }, "GRch38": { "90": { "location": "2:218356856-218368099", "ensembl_id": "ENSG00000158428" } } }, "hgnc_date_symbol_changed": "2014-02-06" }, "entity_type": "gene", "entity_name": "CATIP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32503832" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Spermatogenic failure 54, MIM#\t619379" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MYRL2", "MLC2", "LC20", "MRLC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15754", "gene_name": "myosin light chain 9", "omim_gene": [ "609905" ], "alias_name": [ "myosin regulatory light chain 2, smooth muscle isoform", "myosin regulatory light chain 1" ], "gene_symbol": "MYL9", "hgnc_symbol": "MYL9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:35169887-35178228", "ensembl_id": "ENSG00000101335" } }, "GRch38": { "90": { "location": "20:36541484-36551447", "ensembl_id": "ENSG00000101335" } } }, "hgnc_date_symbol_changed": "2001-09-17" }, "entity_type": "gene", "entity_name": "MYL9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29453416", "33031641", "32621347", "33264186" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20669", "gene_name": "IQ motif containing GTPase activating protein 3", "omim_gene": null, "alias_name": null, "gene_symbol": "IQGAP3", "hgnc_symbol": "IQGAP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156495197-156542396", "ensembl_id": "ENSG00000183856" } }, "GRch38": { "90": { "location": "1:156525405-156572604", "ensembl_id": "ENSG00000183856" } } }, "hgnc_date_symbol_changed": "2003-06-23" }, "entity_type": "gene", "entity_name": "IQGAP3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hereditary peripheral neuropathy MONDO:0020127, IQGAP3-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "POP3", "MGC22671", "bA355M14.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17649", "gene_name": "popeye domain containing 3", "omim_gene": [ "605824" ], "alias_name": null, "gene_symbol": "POPDC3", "hgnc_symbol": "POPDC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:105606155-105627870", "ensembl_id": "ENSG00000132429" } }, "GRch38": { "90": { "location": "6:105158280-105179995", "ensembl_id": "ENSG00000132429" } } }, "hgnc_date_symbol_changed": "2003-05-08" }, "entity_type": "gene", "entity_name": "POPDC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31610034" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9985", "gene_name": "regulatory factor X4", "omim_gene": [ "603958" ], "alias_name": null, "gene_symbol": "RFX4", "hgnc_symbol": "RFX4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:106976685-107156581", "ensembl_id": "ENSG00000111783" } }, "GRch38": { "90": { "location": "12:106582907-106762803", "ensembl_id": "ENSG00000111783" } } }, "hgnc_date_symbol_changed": "1997-07-11" }, "entity_type": "gene", "entity_name": "RFX4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33658631" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "RFX4-related neurodevelopmental disorder, MONDO:0700092" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9984", "gene_name": "regulatory factor X3", "omim_gene": [ "601337" ], "alias_name": null, "gene_symbol": "RFX3", "hgnc_symbol": "RFX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:3218297-3526004", "ensembl_id": "ENSG00000080298" } }, "GRch38": { "90": { "location": "9:3218297-3526004", "ensembl_id": "ENSG00000080298" } } }, "hgnc_date_symbol_changed": "1996-08-16" }, "entity_type": "gene", "entity_name": "RFX3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33658631" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "RFX3-related neurodevelopmental disorder MONDO:0700092" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ12994" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25777", "gene_name": "regulatory factor X7", "omim_gene": [ "612660" ], "alias_name": null, "gene_symbol": "RFX7", "hgnc_symbol": "RFX7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:56379478-56535483", "ensembl_id": "ENSG00000181827" } }, "GRch38": { "90": { "location": "15:56087280-56243266", "ensembl_id": "ENSG00000181827" } } }, "hgnc_date_symbol_changed": "2008-08-04" }, "entity_type": "gene", "entity_name": "RFX7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33658631" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SEMAK", "Sema4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10728", "gene_name": "semaphorin 3F", "omim_gene": [ "601124" ], "alias_name": [ "sema IV" ], "gene_symbol": "SEMA3F", "hgnc_symbol": "SEMA3F", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:50192478-50226508", "ensembl_id": "ENSG00000001617" } }, "GRch38": { "90": { "location": "3:50155045-50189075", "ensembl_id": "ENSG00000001617" } } }, "hgnc_date_symbol_changed": "1995-12-18" }, "entity_type": "gene", "entity_name": "SEMA3F", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33495532" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SEX", "XAP-6", "6.3", "Plxn3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9101", "gene_name": "plexin A3", "omim_gene": [ "300022" ], "alias_name": null, "gene_symbol": "PLXNA3", "hgnc_symbol": "PLXNA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153686621-153701989", "ensembl_id": "ENSG00000130827" } }, "GRch38": { "90": { "location": "X:154458281-154477779", "ensembl_id": "ENSG00000130827" } } }, "hgnc_date_symbol_changed": "1998-01-20" }, "entity_type": "gene", "entity_name": "PLXNA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33495532" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ14840", "ANCHR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20758", "gene_name": "zinc finger FYVE-type containing 19", "omim_gene": null, "alias_name": [ "abscission/nocut checkpoint regulator" ], "gene_symbol": "ZFYVE19", "hgnc_symbol": "ZFYVE19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:41099284-41106767", "ensembl_id": "ENSG00000166140" } }, "GRch38": { "90": { "location": "15:40807086-40815084", "ensembl_id": "ENSG00000166140" } } }, "hgnc_date_symbol_changed": "2003-04-01" }, "entity_type": "gene", "entity_name": "ZFYVE19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32737136" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cholestasis" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0996", "DZIP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20908", "gene_name": "DAZ interacting zinc finger protein 1", "omim_gene": [ "608671" ], "alias_name": null, "gene_symbol": "DZIP1", "hgnc_symbol": "DZIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:96230457-96296957", "ensembl_id": "ENSG00000134874" } }, "GRch38": { "90": { "location": "13:95578202-95644703", "ensembl_id": "ENSG00000134874" } } }, "hgnc_date_symbol_changed": "2003-12-09" }, "entity_type": "gene", "entity_name": "DZIP1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31118289", "32051257" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Mitral valve prolapse, MIM#610840", "Spermatogenic failure 47, MIM#\t619102" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ADH-3", "ADHX", "GSNOR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:253", "gene_name": "alcohol dehydrogenase 5 (class III), chi polypeptide", "omim_gene": [ "103710" ], "alias_name": [ "S-nitrosoglutathione reductase" ], "gene_symbol": "ADH5", "hgnc_symbol": "ADH5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:99992132-100009952", "ensembl_id": "ENSG00000197894" } }, "GRch38": { "90": { "location": "4:99070978-99088801", "ensembl_id": "ENSG00000197894" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ADH5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33147438" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "AMED syndrome, digenic, MIM# 619151", "Aplastic anaemia", "myelodysplasia", "short stature" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TRAPG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11325", "gene_name": "signal sequence receptor subunit 3", "omim_gene": [ "606213" ], "alias_name": [ "translocon-associated protein gamma" ], "gene_symbol": "SSR3", "hgnc_symbol": "SSR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:156257929-156272973", "ensembl_id": "ENSG00000114850" } }, "GRch38": { "90": { "location": "3:156540140-156555184", "ensembl_id": "ENSG00000114850" } } }, "hgnc_date_symbol_changed": "1997-11-04" }, "entity_type": "gene", "entity_name": "SSR3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30945312" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HH114", "MGC11326", "FLJ22851" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26929", "gene_name": "chromosome 15 open reading frame 41", "omim_gene": [ "615626" ], "alias_name": null, "gene_symbol": "C15orf41", "hgnc_symbol": "C15orf41", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:36871812-37102449", "ensembl_id": "ENSG00000186073" } }, "GRch38": { "90": { "location": "15:36579611-36810248", "ensembl_id": "ENSG00000186073" } } }, "hgnc_date_symbol_changed": "2005-10-24" }, "entity_type": "gene", "entity_name": "C15orf41", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23716552", "32293259", "31191338", "29885034" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Dyserythropoietic anemia, congenital, type Ib, MIM#\t615631" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KCa3.1", "hSK4", "hKCa4", "hIKCa1", "IK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6293", "gene_name": "potassium calcium-activated channel subfamily N member 4", "omim_gene": [ "602754" ], "alias_name": [ "small conductance calcium-activated potassium channel 4", "intermediate conductance calcium-activated potassium channel" ], "gene_symbol": "KCNN4", "hgnc_symbol": "KCNN4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:44270685-44285409", "ensembl_id": "ENSG00000104783" } }, "GRch38": { "90": { "location": "19:43766533-43781257", "ensembl_id": "ENSG00000104783" } } }, "hgnc_date_symbol_changed": "1998-04-07" }, "entity_type": "gene", "entity_name": "KCNN4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26148990", "26198474", "26178367", "33519508", "31091145", "28619848" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Dehydrated hereditary stomatocytosis 2, MIM#\t616689" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3004", "gene_name": "DPH2 homolog", "omim_gene": [ "603456" ], "alias_name": null, "gene_symbol": "DPH2", "hgnc_symbol": "DPH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:44435672-44439041", "ensembl_id": "ENSG00000132768" } }, "GRch38": { "90": { "location": "1:43970000-43973369", "ensembl_id": "ENSG00000132768" } } }, "hgnc_date_symbol_changed": "2005-06-03" }, "entity_type": "gene", "entity_name": "DPH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32576952", "27421267" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062", "Diphthamide-deficiency 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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "slit2", "MEGF5", "SLIT1", "Slit-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11087", "gene_name": "slit guidance ligand 3", "omim_gene": [ "603745" ], "alias_name": null, "gene_symbol": "SLIT3", "hgnc_symbol": "SLIT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:168088745-168728133", "ensembl_id": "ENSG00000184347" } }, "GRch38": { "90": { "location": "5:168661733-169301129", "ensembl_id": "ENSG00000184347" } } }, "hgnc_date_symbol_changed": "1998-03-25" }, "entity_type": "gene", "entity_name": "SLIT3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33933663" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Congenital diaphragmatic hernia MONDO:0005711, SLIT3-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ38273" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30860", "gene_name": "LSM11, U7 small nuclear RNA associated", "omim_gene": null, "alias_name": null, "gene_symbol": "LSM11", "hgnc_symbol": "LSM11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:157170703-157187717", "ensembl_id": "ENSG00000155858" } }, "GRch38": { "90": { "location": "5:157743695-157760709", "ensembl_id": "ENSG00000155858" } } }, "hgnc_date_symbol_changed": "2004-04-26" }, "entity_type": "gene", "entity_name": "LSM11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33230297" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Aicardi-Goutieres syndrome 8, MIM# 619486" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10351", "gene_name": "ribosomal protein L3 like", "omim_gene": [ "617416" ], "alias_name": null, "gene_symbol": "RPL3L", "hgnc_symbol": "RPL3L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1993975-2007607", "ensembl_id": "ENSG00000140986" } }, "GRch38": { "90": { "location": "16:1943974-1957606", "ensembl_id": "ENSG00000140986" } } }, "hgnc_date_symbol_changed": "1996-10-18" }, "entity_type": "gene", "entity_name": "RPL3L", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32514796", "32870709" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cardiomyopathy, dilated, 2D, MIM# 619371", "Neonatal dilated cardiomyopathy" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "U7.1" ], "biotype": "snRNA", "hgnc_id": "HGNC:34033", "gene_name": "RNA, U7 small nuclear 1", "omim_gene": null, "alias_name": [ "RNA, small nuclear U7.1" ], "gene_symbol": "RNU7-1", "hgnc_symbol": "RNU7-1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7052979-7053041", "ensembl_id": "ENSG00000238923" } }, "GRch38": { "90": { "location": "12:6943816-6943878", "ensembl_id": "ENSG00000238923" } } }, "hgnc_date_symbol_changed": "2010-09-14" }, "entity_type": "gene", "entity_name": "RNU7-1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33230297" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Aicardi-Goutieres syndrome 9, MIM# 619487" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "non-coding gene" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp781M2411", "RalGAPbeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29221", "gene_name": "Ral GTPase activating protein non-catalytic beta subunit", "omim_gene": null, "alias_name": null, "gene_symbol": "RALGAPB", "hgnc_symbol": "RALGAPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:37101459-37207504", "ensembl_id": "ENSG00000170471" } }, "GRch38": { "90": { "location": "20:38472816-38578861", "ensembl_id": "ENSG00000170471" } } }, "hgnc_date_symbol_changed": "2009-09-09" }, "entity_type": "gene", "entity_name": "RALGAPB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32853829" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorders, autism" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ14009", "GRG6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30788", "gene_name": "transducin like enhancer of split 6", "omim_gene": [ "612399" ], "alias_name": null, "gene_symbol": "TLE6", "hgnc_symbol": "TLE6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:2977444-2995177", "ensembl_id": "ENSG00000104953" } }, "GRch38": { "90": { "location": "19:2977446-2995184", "ensembl_id": "ENSG00000104953" } } }, "hgnc_date_symbol_changed": "2005-01-11" }, "entity_type": "gene", "entity_name": "TLE6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26537248", "31897846" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Preimplantation embryonic lethality, MIM#\t616814" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RIF1", "FLJ11269" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30299", "gene_name": "ligand dependent nuclear receptor interacting factor 1", "omim_gene": [ "615354" ], "alias_name": [ "receptor interacting factor 1" ], "gene_symbol": "LRIF1", "hgnc_symbol": "LRIF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:111489807-111506701", "ensembl_id": "ENSG00000121931" } }, "GRch38": { "90": { "location": "1:110947185-110964079", "ensembl_id": "ENSG00000121931" } } }, "hgnc_date_symbol_changed": "2011-04-15" }, "entity_type": "gene", "entity_name": "LRIF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32467133" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Facioscapulohumeral muscular dystrophy" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ32310", "CCP4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26504", "gene_name": "ATP/GTP binding protein like 1", "omim_gene": [ "615496" ], "alias_name": [ "cytosolic carboxypeptidase 4" ], "gene_symbol": "AGBL1", "hgnc_symbol": "AGBL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:86685227-87572283", "ensembl_id": "ENSG00000166748" } }, "GRch38": { "90": { "location": "15:86079973-87029052", "ensembl_id": "ENSG00000273540" } } }, "hgnc_date_symbol_changed": "2004-11-19" }, "entity_type": "gene", "entity_name": "AGBL1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24094747", "31555324" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Corneal dystrophy, Fuchs endothelial, 8, MIM#\t615523" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:27344", "gene_name": "transmembrane protein 218", "omim_gene": null, "alias_name": null, "gene_symbol": "TMEM218", "hgnc_symbol": "TMEM218", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:124966398-124981659", "ensembl_id": "ENSG00000150433" } }, "GRch38": { "90": { "location": "11:125096545-125111763", "ensembl_id": "ENSG00000150433" } } }, "hgnc_date_symbol_changed": "2008-06-10" }, "entity_type": "gene", "entity_name": "TMEM218", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33791682", "25161209" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Joubert syndrome 39, MIM#619562", "retinal dystrophy", "polycystic kidneys", "occipital encephalocele" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ZNF925" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32550", "gene_name": "zinc finger and BTB domain containing 42", "omim_gene": [ "613915" ], "alias_name": null, "gene_symbol": "ZBTB42", "hgnc_symbol": "ZBTB42", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:105266933-105271049", "ensembl_id": "ENSG00000179627" } }, "GRch38": { "90": { "location": "14:104800596-104804712", "ensembl_id": "ENSG00000179627" } } }, "hgnc_date_symbol_changed": "2006-03-15" }, "entity_type": "gene", "entity_name": "ZBTB42", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25055871" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Lethal congenital contracture syndrome 6, MIM# 616248" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Kir5.1", "BIR9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6262", "gene_name": "potassium voltage-gated channel subfamily J member 16", "omim_gene": [ "605722" ], "alias_name": null, "gene_symbol": "KCNJ16", "hgnc_symbol": "KCNJ16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:68049570-68131749", "ensembl_id": "ENSG00000153822" } }, "GRch38": { "90": { "location": "17:70053429-70135608", "ensembl_id": "ENSG00000153822" } } }, "hgnc_date_symbol_changed": "1998-05-29" }, "entity_type": "gene", "entity_name": "KCNJ16", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33811157", "33840812" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Inherited renal tubular disease, MONDO:0015962, KCNJ16-related", "Renal tubulopathy", "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:13869", "gene_name": "lysyl oxidase like 3", "omim_gene": [ "607163" ], "alias_name": null, "gene_symbol": "LOXL3", "hgnc_symbol": "LOXL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74759541-74782817", "ensembl_id": "ENSG00000115318" } }, "GRch38": { "90": { "location": "2:74532414-74555690", "ensembl_id": "ENSG00000115318" } } }, "hgnc_date_symbol_changed": "2001-06-27" }, "entity_type": "gene", "entity_name": "LOXL3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30362103", "25663169", "41052910" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Stickler syndrome, MONDO:0019354, LOXL3-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RNU12-1" ], "biotype": null, "hgnc_id": "HGNC:19380", "gene_name": "RNA, U12 small nuclear", "omim_gene": null, "alias_name": [ "RNA, U12 small nuclear 1" ], "gene_symbol": "RNU12", "hgnc_symbol": "RNU12", "hgnc_release": "2017-11-03", "ensembl_genes": {}, "hgnc_date_symbol_changed": "2009-11-04" }, "entity_type": "gene", "entity_name": "RNU12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34085356", "27863452" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "CDAGS syndrome MIM#603116", "Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "non-coding gene" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ12571", "dyf-13", "DYF13", "IFT56" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21882", "gene_name": "tetratricopeptide repeat domain 26", "omim_gene": [ "617453" ], "alias_name": null, "gene_symbol": "TTC26", "hgnc_symbol": "TTC26", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:138818490-138876732", "ensembl_id": "ENSG00000105948" } }, "GRch38": { "90": { "location": "7:139133744-139191986", "ensembl_id": "ENSG00000105948" } } }, "hgnc_date_symbol_changed": "2006-03-17" }, "entity_type": "gene", "entity_name": "TTC26", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34177428", "32617964", "31595528", "24596149", "22718903" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534", "Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1414", "DKFZp686P15184" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29273", "gene_name": "HEAT repeat containing 5B", "omim_gene": null, "alias_name": null, "gene_symbol": "HEATR5B", "hgnc_symbol": "HEATR5B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:37195526-37311485", "ensembl_id": "ENSG00000008869" } }, "GRch38": { "90": { "location": "2:36968383-37084342", "ensembl_id": "ENSG00000008869" } } }, "hgnc_date_symbol_changed": "2007-01-02" }, "entity_type": "gene", "entity_name": "HEATR5B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33824466" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CGI-54", "PRO0989", "NY-BR-84", "Erv46" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15927", "gene_name": "ERGIC and golgi 3", "omim_gene": [ "616971" ], "alias_name": null, "gene_symbol": "ERGIC3", "hgnc_symbol": "ERGIC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:34129770-34145405", "ensembl_id": "ENSG00000125991" } }, "GRch38": { "90": { "location": "20:35542021-35557634", "ensembl_id": "ENSG00000125991" } } }, "hgnc_date_symbol_changed": "2006-01-19" }, "entity_type": "gene", "entity_name": "ERGIC3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33710394", "31585110" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1405", "KIF3X", "KIF17B", "OSM-3", "KLP-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19167", "gene_name": "kinesin family member 17", "omim_gene": [ "605037" ], "alias_name": [ "kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein" ], "gene_symbol": "KIF17", "hgnc_symbol": "KIF17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:20990507-21044510", "ensembl_id": "ENSG00000117245" } }, "GRch38": { "90": { "location": "1:20664014-20718017", "ensembl_id": "ENSG00000117245" } } }, "hgnc_date_symbol_changed": "2002-08-29" }, "entity_type": "gene", "entity_name": "KIF17", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33922911", "30458707", "28341548" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Microphthalmia, isolated, with coloboma MONDO:0000170, KIF17-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NUF2R", "CT106" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14621", "gene_name": "NUF2, NDC80 kinetochore complex component", "omim_gene": [ "611772" ], "alias_name": [ "cancer/testis antigen 106" ], "gene_symbol": "NUF2", "hgnc_symbol": "NUF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:163236366-163325554", "ensembl_id": "ENSG00000143228" } }, "GRch38": { "90": { "location": "1:163266576-163355764", "ensembl_id": "ENSG00000143228" } } }, "hgnc_date_symbol_changed": "2006-11-07" }, "entity_type": "gene", "entity_name": "NUF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33721060" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "microcephaly", "short stature", "bilateral vocal cord paralysis", "micrognathia", "atrial septal defect" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SLY", "753P9", "SH3D6C", "HACS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15975", "gene_name": "SAM and SH3 domain containing 3", "omim_gene": [ "300441" ], "alias_name": null, "gene_symbol": "SASH3", "hgnc_symbol": "SASH3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:128913955-128929177", "ensembl_id": "ENSG00000122122" } }, "GRch38": { "90": { "location": "X:129779979-129795201", "ensembl_id": "ENSG00000122122" } } }, "hgnc_date_symbol_changed": "2008-02-18" }, "entity_type": "gene", "entity_name": "SASH3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33876203" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Immunodeficiency 102, MIM# 301082" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "JTK14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11809", "gene_name": "tyrosine kinase with immunoglobulin like and EGF like domains 1", "omim_gene": [ "600222" ], "alias_name": null, "gene_symbol": "TIE1", "hgnc_symbol": "TIE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:43766664-43788779", "ensembl_id": "ENSG00000066056" } }, "GRch38": { "90": { "location": "1:43300993-43323108", "ensembl_id": "ENSG00000066056" } } }, "hgnc_date_symbol_changed": "2004-12-14" }, "entity_type": "gene", "entity_name": "TIE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32947856", "24764452", "38820174" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lymphatic malformation 11, MIM# 619401" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0703", "SPCA2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29103", "gene_name": "ATPase secretory pathway Ca2+ transporting 2", "omim_gene": [ "613082" ], "alias_name": [ "secretory pathway calcium ATPase 2" ], "gene_symbol": "ATP2C2", "hgnc_symbol": "ATP2C2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:84402133-84497793", "ensembl_id": "ENSG00000064270" } }, "GRch38": { "90": { "location": "16:84368527-84464187", "ensembl_id": "ENSG00000064270" } } }, "hgnc_date_symbol_changed": "2006-10-20" }, "entity_type": "gene", "entity_name": "ATP2C2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33864365", "28440294" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "language impairment, HP:0002463" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MYBPCF", "MYBPC", "MGC163408" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7550", "gene_name": "myosin binding protein C, fast type", "omim_gene": [ "160793" ], "alias_name": [ "fast-type muscle myosin-binding-protein C" ], "gene_symbol": "MYBPC2", "hgnc_symbol": "MYBPC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50936160-50969578", "ensembl_id": "ENSG00000086967" } }, "GRch38": { "90": { "location": "19:50432903-50466321", "ensembl_id": "ENSG00000086967" } } }, "hgnc_date_symbol_changed": "1993-12-15" }, "entity_type": "gene", "entity_name": "MYBPC2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32732226" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Fetal akinesia", "Hydrops", "Hygroma", "Multiple pterygium" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1503", "FLJ46675" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2948", "gene_name": "dynein axonemal heavy chain 2", "omim_gene": [ "603333" ], "alias_name": null, "gene_symbol": "DNAH2", "hgnc_symbol": "DNAH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7620672-7737062", "ensembl_id": "ENSG00000183914" } }, "GRch38": { "90": { "location": "17:7717354-7833744", "ensembl_id": "ENSG00000183914" } } }, "hgnc_date_symbol_changed": "1995-11-15" }, "entity_type": "gene", "entity_name": "DNAH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30811583" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spermatogenic failure 45, MIM#\t619094" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Nav2.1", "Nav2.2", "NaG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10594", "gene_name": "sodium voltage-gated channel alpha subunit 7", "omim_gene": [ "182392" ], "alias_name": null, "gene_symbol": "SCN7A", "hgnc_symbol": "SCN7A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:167260083-167350757", "ensembl_id": "ENSG00000136546" } }, "GRch38": { "90": { "location": "2:166403573-166494247", "ensembl_id": "ENSG00000136546" } } }, "hgnc_date_symbol_changed": "2002-06-14" }, "entity_type": "gene", "entity_name": "SCN7A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32732226" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Holoprosencephaly" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HUSPECV", "BSPECV", "HUBSPECV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15680", "gene_name": "spectrin beta, non-erythrocytic 5", "omim_gene": [ "605916" ], "alias_name": [ "beta V spectrin" ], "gene_symbol": "SPTBN5", "hgnc_symbol": "SPTBN5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:42140345-42186275", "ensembl_id": "ENSG00000137877" } }, "GRch38": { "90": { "location": "15:41848144-41894077", "ensembl_id": "ENSG00000137877" } } }, "hgnc_date_symbol_changed": "2001-05-29" }, "entity_type": "gene", "entity_name": "SPTBN5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35782384", "32732226", "28007035" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related", "Sacral agenesis", "congenital anomalies" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZP434H2010" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25284", "gene_name": "pleckstrin homology domain containing N1", "omim_gene": null, "alias_name": null, "gene_symbol": "PLEKHN1", "hgnc_symbol": "PLEKHN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:901877-911245", "ensembl_id": "ENSG00000187583" } }, "GRch38": { "90": { "location": "1:966497-975865", "ensembl_id": "ENSG00000187583" } } }, "hgnc_date_symbol_changed": "2005-06-03" }, "entity_type": "gene", "entity_name": "PLEKHN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33884296" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "A8-51", "KOX25", "PP838", "FLJ20216", "HF.12", "Zfp113" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13089", "gene_name": "zinc finger protein 3", "omim_gene": [ "194510" ], "alias_name": null, "gene_symbol": "ZNF3", "hgnc_symbol": "ZNF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:99661656-99680171", "ensembl_id": "ENSG00000166526" } }, "GRch38": { "90": { "location": "7:100064033-100082548", "ensembl_id": "ENSG00000166526" } } }, "hgnc_date_symbol_changed": "1989-05-31" }, "entity_type": "gene", "entity_name": "ZNF3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32732226" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hydrocephalus", "cleft palate", "microphthalmia" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0611", "ATPIIA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13540", "gene_name": "ATPase phospholipid transporting 9A (putative)", "omim_gene": [ "609126" ], "alias_name": null, "gene_symbol": "ATP9A", "hgnc_symbol": "ATP9A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:50213053-50385173", "ensembl_id": "ENSG00000054793" } }, "GRch38": { "90": { "location": "20:51596514-51768634", "ensembl_id": "ENSG00000054793" } } }, "hgnc_date_symbol_changed": "2000-09-25" }, "entity_type": "gene", "entity_name": "ATP9A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40226306", "36604604", "34764295", "34379057" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20177", "ASM3A", "ASML3a", "yR36GH4.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17389", "gene_name": "sphingomyelin phosphodiesterase acid like 3A", "omim_gene": [ "610728" ], "alias_name": [ "acid sphingomyelinase-like phosphodiesterase 3a" ], "gene_symbol": "SMPDL3A", "hgnc_symbol": "SMPDL3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:123110315-123130865", "ensembl_id": "ENSG00000172594" } }, "GRch38": { "90": { "location": "6:122789049-122809720", "ensembl_id": "ENSG00000172594" } } }, "hgnc_date_symbol_changed": "2003-11-26" }, "entity_type": "gene", "entity_name": "SMPDL3A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33884296" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Sensory Neuropathy MONDO:0002321, SMPDL3A-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12759", "gene_name": "WD repeat containing, antisense to TP73", "omim_gene": [ "606040" ], "alias_name": null, "gene_symbol": "WRAP73", "hgnc_symbol": "WRAP73", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:3547331-3569325", "ensembl_id": "ENSG00000116213" } }, "GRch38": { "90": { "location": "1:3630767-3652761", "ensembl_id": "ENSG00000116213" } } }, "hgnc_date_symbol_changed": "2011-04-13" }, "entity_type": "gene", "entity_name": "WRAP73", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33693649" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Anterior segment dysgenesis, MONDO:0019503, WRAP73-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIR2.6", "TTPP2" ], "biotype": null, "hgnc_id": "HGNC:39080", "gene_name": "potassium voltage-gated channel subfamily J member 18", "omim_gene": [ "613236" ], "alias_name": null, "gene_symbol": "KCNJ18", "hgnc_symbol": "KCNJ18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch38": { "90": { "location": "17:21692523-21704612", "ensembl_id": "ENSG00000260458" } } }, "hgnc_date_symbol_changed": "2010-10-05" }, "entity_type": "gene", "entity_name": "KCNJ18", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20074522", "27008341" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "{Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM#\t613239" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSPC203" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20213", "gene_name": "COX16, cytochrome c oxidase assembly homolog", "omim_gene": null, "alias_name": null, "gene_symbol": "COX16", "hgnc_symbol": "COX16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:70791798-70826448", "ensembl_id": "ENSG00000133983" } }, "GRch38": { "90": { "location": "14:70325081-70359731", "ensembl_id": "ENSG00000133983" } } }, "hgnc_date_symbol_changed": "2008-06-23" }, "entity_type": "gene", "entity_name": "COX16", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33169484" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 22, MIM#\t619355", "Hypertrophic cardiomyopathy", "encephalopathy", "severe fatal lactic acidosis" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14178", "gene_name": "heparan sulfate-glucosamine 3-sulfotransferase 6", "omim_gene": null, "alias_name": null, "gene_symbol": "HS3ST6", "hgnc_symbol": "HS3ST6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1961464-1968441", "ensembl_id": "ENSG00000162040" } }, "GRch38": { "90": { "location": "16:1911463-1918440", "ensembl_id": "ENSG00000162040" } } }, "hgnc_date_symbol_changed": "2003-06-13" }, "entity_type": "gene", "entity_name": "HS3ST6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33508266" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Hereditary angioedema-8 (HAE8), MIM#619367" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1545" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29308", "gene_name": "fibrosin like 1", "omim_gene": null, "alias_name": null, "gene_symbol": "FBRSL1", "hgnc_symbol": "FBRSL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:133066137-133161774", "ensembl_id": "ENSG00000112787" } }, "GRch38": { "90": { "location": "12:132489551-132585188", "ensembl_id": "ENSG00000112787" } } }, "hgnc_date_symbol_changed": "2008-12-09" }, "entity_type": "gene", "entity_name": "FBRSL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32424618" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "syndromic disease MONDO:0002254, FBRSL1-related", "Malformation and intellectual disability syndrome" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1207" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3656", "gene_name": "myoferlin", "omim_gene": [ "604603" ], "alias_name": [ "fer-1-like family member 3" ], "gene_symbol": "MYOF", "hgnc_symbol": "MYOF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:95066186-95242074", "ensembl_id": "ENSG00000138119" } }, "GRch38": { "90": { "location": "10:93306429-93482317", "ensembl_id": "ENSG00000138119" } } }, "hgnc_date_symbol_changed": "2008-11-26" }, "entity_type": "gene", "entity_name": "MYOF", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32542751", "40797221" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Hereditary angioedema-7 (HAE7), MIM#619366" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BARK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:289", "gene_name": "G protein-coupled receptor kinase 2", "omim_gene": [ "109635" ], "alias_name": null, "gene_symbol": "GRK2", "hgnc_symbol": "GRK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:67033881-67054027", "ensembl_id": "ENSG00000173020" } }, "GRch38": { "90": { "location": "11:67266410-67286556", "ensembl_id": "ENSG00000173020" } } }, "hgnc_date_symbol_changed": "2016-05-16" }, "entity_type": "gene", "entity_name": "GRK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33200460", "38647386" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "A2lp", "A2D" ], "biotype": "protein_coding", "hgnc_id": "HGNC:31326", "gene_name": "ataxin 2 like", "omim_gene": [ "607931" ], "alias_name": null, "gene_symbol": "ATXN2L", "hgnc_symbol": "ATXN2L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:28834356-28848558", "ensembl_id": "ENSG00000168488" } }, "GRch38": { "90": { "location": "16:28823035-28837237", "ensembl_id": "ENSG00000168488" } } }, "hgnc_date_symbol_changed": "2004-08-18" }, "entity_type": "gene", "entity_name": "ATXN2L", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33283965", "33057194" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, ATXN2L-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11182", "gene_name": "calpain 15", "omim_gene": [ "603267" ], "alias_name": null, "gene_symbol": "CAPN15", "hgnc_symbol": "CAPN15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:577717-604636", "ensembl_id": "ENSG00000103326" } }, "GRch38": { "90": { "location": "16:527717-554636", "ensembl_id": "ENSG00000103326" } } }, "hgnc_date_symbol_changed": "2013-06-27" }, "entity_type": "gene", "entity_name": "CAPN15", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32885237", "33410501" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318", "microphthalmia HP:0000568", "coloboma HP:0000589" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OSTbeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29956", "gene_name": "solute carrier family 51 beta subunit", "omim_gene": [ "612085" ], "alias_name": [ "organic solute transporter beta subunit" ], "gene_symbol": "SLC51B", "hgnc_symbol": "SLC51B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:65337708-65345734", "ensembl_id": "ENSG00000186198" } }, "GRch38": { "90": { "location": "15:65045370-65053396", "ensembl_id": "ENSG00000186198" } } }, "hgnc_date_symbol_changed": "2012-08-03" }, "entity_type": "gene", "entity_name": "SLC51B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28898457" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Bile acid malabsorption, primary, 2, MIM# 619481", "Congenital diarrhoea", "Cholestasis" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9799", "gene_name": "RAB, member of RAS oncogene family like 2A", "omim_gene": [ "605412" ], "alias_name": null, "gene_symbol": "RABL2A", "hgnc_symbol": "RABL2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:114384806-114400973", "ensembl_id": "ENSG00000144134" } }, "GRch38": { "90": { "location": "2:113627229-113643396", "ensembl_id": "ENSG00000144134" } } }, "hgnc_date_symbol_changed": "1998-09-29" }, "entity_type": "gene", "entity_name": "RABL2A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33075816", "24825419" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Infertility disorder, MONDO:0005047, RABL2A-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20344", "gene_name": "ubiquitin protein ligase E3 component n-recognin 7 (putative)", "omim_gene": [ "613816" ], "alias_name": null, "gene_symbol": "UBR7", "hgnc_symbol": "UBR7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:93673401-93695561", "ensembl_id": "ENSG00000012963" } }, "GRch38": { "90": { "location": "14:93207056-93229215", "ensembl_id": "ENSG00000012963" } } }, "hgnc_date_symbol_changed": "2008-06-23" }, "entity_type": "gene", "entity_name": "UBR7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33340455" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Li-Campeau syndrome, MIM# 619189", "Intellectual disability", "epilepsy", "hypothyroidism", "congenital anomalies", "dysmorphic features" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Hek11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3390", "gene_name": "EPH receptor A7", "omim_gene": [ "602190" ], "alias_name": null, "gene_symbol": "EPHA7", "hgnc_symbol": "EPHA7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:93949738-94129265", "ensembl_id": "ENSG00000135333" } }, "GRch38": { "90": { "location": "6:93240020-93419547", "ensembl_id": "ENSG00000135333" } } }, "hgnc_date_symbol_changed": "1997-10-10" }, "entity_type": "gene", "entity_name": "EPHA7", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34176129" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092,EPHA7-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IRX-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14675", "gene_name": "iroquois homeobox 6", "omim_gene": [ "606196" ], "alias_name": null, "gene_symbol": "IRX6", "hgnc_symbol": "IRX6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:55357672-55364672", "ensembl_id": "ENSG00000159387" } }, "GRch38": { "90": { "location": "16:55323760-55330760", "ensembl_id": "ENSG00000159387" } } }, "hgnc_date_symbol_changed": "2003-01-10" }, "entity_type": "gene", "entity_name": "IRX6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "33891002" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "cone dystrophy, MONDO:0000455" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FKBP38", "FKBPr38" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3724", "gene_name": "FK506 binding protein 8", "omim_gene": [ "604840" ], "alias_name": [ "FK506-binding protein 8 (38kD)" ], "gene_symbol": "FKBP8", "hgnc_symbol": "FKBP8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:18642561-18654887", "ensembl_id": "ENSG00000105701" } }, "GRch38": { "90": { "location": "19:18531751-18544077", "ensembl_id": "ENSG00000105701" } } }, "hgnc_date_symbol_changed": "1999-10-28" }, "entity_type": "gene", "entity_name": "FKBP8", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32969478" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "spina bifida HP:0002414" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6714", "gene_name": "latent transforming growth factor beta binding protein 1", "omim_gene": [ "150390" ], "alias_name": [ "TGF-beta1-BP-1" ], "gene_symbol": "LTBP1", "hgnc_symbol": "LTBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:33172039-33624576", "ensembl_id": "ENSG00000049323" } }, "GRch38": { "90": { "location": "2:32946972-33399509", "ensembl_id": "ENSG00000049323" } } }, "hgnc_date_symbol_changed": "1993-09-20" }, "entity_type": "gene", "entity_name": "LTBP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33991472" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cutis laxa, autosomal recessive, type IIE MIM#619451" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZTL1", "ZnT-5", "FLJ12496", "FLJ12756", "ZNT5", "MGC5499", "ZNTL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19089", "gene_name": "solute carrier family 30 member 5", "omim_gene": [ "607819" ], "alias_name": null, "gene_symbol": "SLC30A5", "hgnc_symbol": "SLC30A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:68389473-68426896", "ensembl_id": "ENSG00000145740" } }, "GRch38": { "90": { "location": "5:69093646-69131069", "ensembl_id": "ENSG00000145740" } } }, "hgnc_date_symbol_changed": "2003-02-12" }, "entity_type": "gene", "entity_name": "SLC30A5", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33547425", "12095919" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Cardiomyopathy MONDO:0004994, SLC30A5-related", "Perinatal lethal cardiomyopathy" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ34743" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13655", "gene_name": "signal peptide, CUB domain and EGF like domain containing 3", "omim_gene": [ "614708" ], "alias_name": null, "gene_symbol": "SCUBE3", "hgnc_symbol": "SCUBE3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:35182190-35220856", "ensembl_id": "ENSG00000146197" } }, "GRch38": { "90": { "location": "6:35214419-35253079", "ensembl_id": "ENSG00000146197" } } }, "hgnc_date_symbol_changed": "2004-05-21" }, "entity_type": "gene", "entity_name": "SCUBE3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33308444" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184", "Short stature", "skeletal abnormalities", "craniofacial abnormalities", "dental anomalies" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FHF2", "FGF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3670", "gene_name": "fibroblast growth factor 13", "omim_gene": [ "300070" ], "alias_name": [ "fibroblast growth factor homologous factor 2" ], "gene_symbol": "FGF13", "hgnc_symbol": "FGF13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:137713735-138304939", "ensembl_id": "ENSG00000129682" } }, "GRch38": { "90": { "location": "X:138614731-139222777", "ensembl_id": "ENSG00000129682" } } }, "hgnc_date_symbol_changed": "1996-12-16" }, "entity_type": "gene", "entity_name": "FGF13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "33245860", "34184986" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 90, MIM# 301058", "Intellectual developmental disorder, X-linked 110, MIM# 301095" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "5'UTR" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BIgR", "FLJ10698", "TSLL1", "NECL1", "SynCAM3", "Necl-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17601", "gene_name": "cell adhesion molecule 3", "omim_gene": [ "609743" ], "alias_name": [ "nectin-like 1" ], "gene_symbol": "CADM3", "hgnc_symbol": "CADM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:159141399-159173103", "ensembl_id": "ENSG00000162706" } }, "GRch38": { "90": { "location": "1:159171609-159203313", "ensembl_id": "ENSG00000162706" } } }, "hgnc_date_symbol_changed": "2007-02-07" }, "entity_type": "gene", "entity_name": "CADM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33889941", "38074074" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TD26", "RIFL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24933", "gene_name": "angiopoietin like 8", "omim_gene": [ "616223" ], "alias_name": [ "lipasin", "betatrophin" ], "gene_symbol": "ANGPTL8", "hgnc_symbol": "ANGPTL8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:11348178-11352619", "ensembl_id": "ENSG00000130173" } }, "GRch38": { "90": { "location": "19:11237450-11241943", "ensembl_id": "ENSG00000130173" } } }, "hgnc_date_symbol_changed": "2015-10-23" }, "entity_type": "gene", "entity_name": "ANGPTL8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33909604" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Low serum triglycerides", "Coronary artery disease" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32029", "BM32A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20898", "gene_name": "phosphoglucomutase 2 like 1", "omim_gene": [ "611610" ], "alias_name": [ "glucose-1,6-bisphosphate synthase" ], "gene_symbol": "PGM2L1", "hgnc_symbol": "PGM2L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:74041363-74109518", "ensembl_id": "ENSG00000165434" } }, "GRch38": { "90": { "location": "11:74330318-74398473", "ensembl_id": "ENSG00000165434" } } }, "hgnc_date_symbol_changed": "2004-01-20" }, "entity_type": "gene", "entity_name": "PGM2L1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33979636" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5022", "gene_name": "forkhead box A2", "omim_gene": [ "600288" ], "alias_name": null, "gene_symbol": "FOXA2", "hgnc_symbol": "FOXA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:22561643-22566093", "ensembl_id": "ENSG00000125798" } }, "GRch38": { "90": { "location": "20:22581005-22585455", "ensembl_id": "ENSG00000125798" } } }, "hgnc_date_symbol_changed": "2002-09-20" }, "entity_type": "gene", "entity_name": "FOXA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29329447", "28973288", "11445544", "33999151", "30414530", "33729509", "31294511" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Hyperinsulinism MONDO:0002177", "Hypopituitarism, MONDO:0005152" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Etr-3", "NAPOR-2", "BRUNOL3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2550", "gene_name": "CUGBP Elav-like family member 2", "omim_gene": [ "602538" ], "alias_name": null, "gene_symbol": "CELF2", "hgnc_symbol": "CELF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:11047259-11378674", "ensembl_id": "ENSG00000048740" } }, "GRch38": { "90": { "location": "10:10798397-11336675", "ensembl_id": "ENSG00000048740" } } }, "hgnc_date_symbol_changed": "2010-02-19" }, "entity_type": "gene", "entity_name": "CELF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33131106" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 97, MIM#619561" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SMAP-5", "FinGER5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24877", "gene_name": "Yip1 domain family member 5", "omim_gene": [ "611483" ], "alias_name": null, "gene_symbol": "YIPF5", "hgnc_symbol": "YIPF5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:143537723-143550278", "ensembl_id": "ENSG00000145817" } }, "GRch38": { "90": { "location": "5:144158159-144170714", "ensembl_id": "ENSG00000145817" } } }, "hgnc_date_symbol_changed": "2005-07-04" }, "entity_type": "gene", "entity_name": "YIPF5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33164986" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSPC139" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14312", "gene_name": "CXXC repeat containing interactor of PDZ3 domain", "omim_gene": [ "604594" ], "alias_name": null, "gene_symbol": "CRIPT", "hgnc_symbol": "CRIPT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:46843555-46852881", "ensembl_id": "ENSG00000119878" } }, "GRch38": { "90": { "location": "2:46616416-46625742", "ensembl_id": "ENSG00000119878" } } }, "hgnc_date_symbol_changed": "2006-06-22" }, "entity_type": "gene", "entity_name": "CRIPT", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "24389050", "27250922" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Short stature with microcephaly and distinctive facies (MIM#615789)", "Rothmund-Thomson syndrome MONDO:0010002" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10724", "MART-2", "MART2", "Skn", "ski", "rasp", "sit", "GUP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18270", "gene_name": "hedgehog acyltransferase", "omim_gene": [ "605743" ], "alias_name": null, "gene_symbol": "HHAT", "hgnc_symbol": "HHAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:210501596-210849638", "ensembl_id": "ENSG00000054392" } }, "GRch38": { "90": { "location": "1:210328252-210676296", "ensembl_id": "ENSG00000054392" } } }, "hgnc_date_symbol_changed": "2004-09-15" }, "entity_type": "gene", "entity_name": "HHAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24784881", "30912300" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Nivelon-Nivelon-Mabille syndrome 600092" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DMC1", "HID-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15736", "gene_name": "HID1 domain containing", "omim_gene": [ "605752" ], "alias_name": [ "downregulated in multiple cancer 1" ], "gene_symbol": "HID1", "hgnc_symbol": "HID1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:72946838-72969261", "ensembl_id": "ENSG00000167861" } }, "GRch38": { "90": { "location": "17:74950743-74973166", "ensembl_id": "ENSG00000167861" } } }, "hgnc_date_symbol_changed": "2012-10-10" }, "entity_type": "gene", "entity_name": "HID1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33999436" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 105 with hypopituitarism\tMIM#619983" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RDC-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9218", "gene_name": "POU class 4 homeobox 1", "omim_gene": [ "601632" ], "alias_name": null, "gene_symbol": "POU4F1", "hgnc_symbol": "POU4F1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:79172497-79177673", "ensembl_id": "ENSG00000152192" } }, "GRch38": { "90": { "location": "13:78598362-78603560", "ensembl_id": "ENSG00000152192" } } }, "hgnc_date_symbol_changed": "1993-10-21" }, "entity_type": "gene", "entity_name": "POU4F1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33783914", "8876243" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "UNC45" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14304", "gene_name": "unc-45 myosin chaperone B", "omim_gene": [ "611220" ], "alias_name": null, "gene_symbol": "UNC45B", "hgnc_symbol": "UNC45B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:33474836-33516364", "ensembl_id": "ENSG00000141161" } }, "GRch38": { "90": { "location": "17:35147817-35189345", "ensembl_id": "ENSG00000141161" } } }, "hgnc_date_symbol_changed": "2005-11-17" }, "entity_type": "gene", "entity_name": "UNC45B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33217308" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Myofibrillar myopathy 11, MIM# 619178", "Progressive Myopathy with Eccentric Cores" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDC47", "PPP1R104" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6950", "gene_name": "minichromosome maintenance complex component 7", "omim_gene": [ "600592" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 104" ], "gene_symbol": "MCM7", "hgnc_symbol": "MCM7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:99690351-99699563", "ensembl_id": "ENSG00000166508" } }, "GRch38": { "90": { "location": "7:100092728-100101940", "ensembl_id": "ENSG00000166508" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "MCM7", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33654309", "34059554" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Syndromic disease, MONDO:0002254, MCM7-related", "Meier-Gorlin syndrome", "Microcephaly", "Intellectual disability", "Lipodystrophy", "Adrenal 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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20043", "gene_name": "gem nuclear organelle associated protein 5", "omim_gene": [ "607005" ], "alias_name": null, "gene_symbol": "GEMIN5", "hgnc_symbol": "GEMIN5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:154266976-154317769", "ensembl_id": "ENSG00000082516" } }, "GRch38": { "90": { "location": "5:154887416-154938209", "ensembl_id": "ENSG00000082516" } } }, "hgnc_date_symbol_changed": "2002-12-16" }, "entity_type": "gene", "entity_name": "GEMIN5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33963192" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "L9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10369", "gene_name": "ribosomal protein L9", "omim_gene": [ "603686" ], "alias_name": null, "gene_symbol": "RPL9", "hgnc_symbol": "RPL9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:39455744-39460568", "ensembl_id": "ENSG00000163682" } }, "GRch38": { "90": { "location": "4:39454124-39458948", "ensembl_id": "ENSG00000163682" } } }, "hgnc_date_symbol_changed": "1993-12-07" }, "entity_type": "gene", "entity_name": "RPL9", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29114930", "20116044", "31799629", "34094714" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Diamond-Blackfan anaemia MONDO:0015253, RPL9-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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Kir3.4", "CIR", "KATP1", "GIRK4", "LQT13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6266", "gene_name": "potassium voltage-gated channel subfamily J member 5", "omim_gene": [ "600734" ], "alias_name": null, "gene_symbol": "KCNJ5", "hgnc_symbol": "KCNJ5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:128761251-128790930", "ensembl_id": "ENSG00000120457" } }, "GRch38": { "90": { "location": "11:128891356-128921035", "ensembl_id": "ENSG00000120457" } } }, "hgnc_date_symbol_changed": "1995-04-13" }, "entity_type": "gene", "entity_name": "KCNJ5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21311022", "22203740", "24420545", "24574546" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Hyperaldosteronism, familial, type III, MIM# 613677" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10262" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22931", "gene_name": "kelch like family member 13", "omim_gene": [ "300655" ], "alias_name": null, "gene_symbol": "KLHL13", "hgnc_symbol": "KLHL13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:117031776-117251303", "ensembl_id": "ENSG00000003096" } }, "GRch38": { "90": { "location": "X:117897813-118117340", "ensembl_id": "ENSG00000003096" } } }, "hgnc_date_symbol_changed": "2004-02-18" }, "entity_type": "gene", "entity_name": "KLHL13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 41159445" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review", "Royal Melbourne Hospital" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, KLHL13-related" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "pART17" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26921", "gene_name": "poly(ADP-ribose) polymerase family member 6", "omim_gene": null, "alias_name": null, "gene_symbol": "PARP6", "hgnc_symbol": "PARP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:72533522-72565340", "ensembl_id": "ENSG00000137817" } }, "GRch38": { "90": { "location": "15:72241181-72272999", "ensembl_id": "ENSG00000137817" } } }, "hgnc_date_symbol_changed": "2004-08-25" }, "entity_type": "gene", "entity_name": "PARP6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34067418" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual disability", "Epilepsy", "Microcephaly" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSPC155" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26941", "gene_name": "ubiquitin-fold modifier conjugating enzyme 1", "omim_gene": [ "610554" ], "alias_name": null, "gene_symbol": "UFC1", "hgnc_symbol": "UFC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:161122566-161128646", "ensembl_id": "ENSG00000143222" } }, "GRch38": { "90": { "location": "1:161152776-161158856", "ensembl_id": "ENSG00000143222" } } }, "hgnc_date_symbol_changed": "2005-05-27" }, "entity_type": "gene", "entity_name": "UFC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29868776", "30552426" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "deep intronic" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MIPP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7102", "gene_name": "multiple inositol-polyphosphate phosphatase 1", "omim_gene": [ "605391" ], "alias_name": null, "gene_symbol": "MINPP1", "hgnc_symbol": "MINPP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:89264632-89313217", "ensembl_id": "ENSG00000107789" } }, "GRch38": { "90": { "location": "10:87504875-87553460", "ensembl_id": "ENSG00000107789" } } }, "hgnc_date_symbol_changed": "1998-11-19" }, "entity_type": "gene", "entity_name": "MINPP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33257696" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 16, MIM# 619527" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ACOD4", "FLJ21032", "FADS4", "HSCD5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21088", "gene_name": "stearoyl-CoA desaturase 5", "omim_gene": [ "608370" ], "alias_name": null, "gene_symbol": "SCD5", "hgnc_symbol": "SCD5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:83550692-83720010", "ensembl_id": "ENSG00000145284" } }, "GRch38": { "90": { "location": "4:82629539-82798857", "ensembl_id": "ENSG00000145284" } } }, "hgnc_date_symbol_changed": "2005-06-09" }, "entity_type": "gene", "entity_name": "SCD5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31972369" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Deafness, autosomal dominant 79, MIM#619086" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0876", "TDRD14B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29136", "gene_name": "lysine demethylase 4B", "omim_gene": [ "609765" ], "alias_name": [ "tudor domain containing 14B" ], "gene_symbol": "KDM4B", "hgnc_symbol": "KDM4B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:4969125-5153606", "ensembl_id": "ENSG00000127663" } }, "GRch38": { "90": { "location": "19:4969113-5153595", "ensembl_id": "ENSG00000127663" } } }, "hgnc_date_symbol_changed": "2009-04-06" }, "entity_type": "gene", "entity_name": "KDM4B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33232677" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 65, MIM# 619320", "Global developmental delay, intellectual disability and neuroanatomical defects" ], "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": "1.4756", "version_created": "2026-04-21T17:26:37.026127+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null } ] }