Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=62
{ "count": 35523, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=63", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=61", "results": [ { "gene_data": { "alias": [ "MGC18257", "CIP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21355", "gene_name": "muscular LMNA interacting protein", "omim_gene": [ "614106" ], "alias_name": [ "muscle-enriched A-type lamin interacting protein", "cardiac ISL1-interacting protein" ], "gene_symbol": "MLIP", "hgnc_symbol": "MLIP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:53794780-54131078", "ensembl_id": "ENSG00000146147" } }, "GRch38": { "90": { "location": "6:53929982-54266280", "ensembl_id": "ENSG00000146147" } } }, "hgnc_date_symbol_changed": "2011-04-29" }, "entity_type": "gene", "entity_name": "MLIP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34581780" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ37767", "FLJ22761" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23302", "gene_name": "hexokinase domain containing 1", "omim_gene": [ "617221" ], "alias_name": null, "gene_symbol": "HKDC1", "hgnc_symbol": "HKDC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:70980059-71027315", "ensembl_id": "ENSG00000156510" } }, "GRch38": { "90": { "location": "10:69220303-69267559", "ensembl_id": "ENSG00000156510" } } }, "hgnc_date_symbol_changed": "2004-05-27" }, "entity_type": "gene", "entity_name": "HKDC1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30085091" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Retinitis pigmentosa 92, MIM# 619614" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "MRPP3", "PRORP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19958", "gene_name": "KIAA0391", "omim_gene": [ "609947" ], "alias_name": [ "mitochondrial RNase P subunit 3", "proteinaceous RNase P" ], "gene_symbol": "KIAA0391", "hgnc_symbol": "KIAA0391", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:35591052-35743271", "ensembl_id": "ENSG00000100890" } }, "GRch38": { "90": { "location": "14:35121846-35277614", "ensembl_id": "ENSG00000100890" } } }, "hgnc_date_symbol_changed": "2003-11-21" }, "entity_type": "gene", "entity_name": "KIAA0391", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 34715011" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 54, MIM#\t619737" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "MICAL", "FLJ11937", "DKFZp434B1517", "FLJ21739" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20619", "gene_name": "microtubule associated monooxygenase, calponin and LIM domain containing 1", "omim_gene": [ "607129" ], "alias_name": [ "protein-methionine sulfoxide oxidase MICAL1" ], "gene_symbol": "MICAL1", "hgnc_symbol": "MICAL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:109765265-109787171", "ensembl_id": "ENSG00000135596" } }, "GRch38": { "90": { "location": "6:109444062-109465968", "ensembl_id": "ENSG00000135596" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MICAL1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38705457", "29394500", "21638339" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Autosomal dominant epilepsy with auditory features (ADEAF)" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ10534" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25542", "gene_name": "TSR1, ribosome maturation factor", "omim_gene": [ "611214" ], "alias_name": null, "gene_symbol": "TSR1", "hgnc_symbol": "TSR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:2225797-2240801", "ensembl_id": "ENSG00000167721" } }, "GRch38": { "90": { "location": "17:2322503-2337507", "ensembl_id": "ENSG00000167721" } } }, "hgnc_date_symbol_changed": "2005-12-16" }, "entity_type": "gene", "entity_name": "TSR1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31296288", "31296287" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "idiopathic spontaneous coronary artery dissection MONDO:0007385" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ25965" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18610", "gene_name": "kinase suppressor of ras 2", "omim_gene": [ "610737" ], "alias_name": null, "gene_symbol": "KSR2", "hgnc_symbol": "KSR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:117890817-118406788", "ensembl_id": "ENSG00000171435" } }, "GRch38": { "90": { "location": "12:117453012-117968983", "ensembl_id": "ENSG00000171435" } } }, "hgnc_date_symbol_changed": "2005-01-18" }, "entity_type": "gene", "entity_name": "KSR2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29273807", "24209692" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Obesity" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "C90RF3", "FLJ14675", "APO", "AOPEP", "AP-O" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1361", "gene_name": "chromosome 9 open reading frame 3", "omim_gene": null, "alias_name": null, "gene_symbol": "C9orf3", "hgnc_symbol": "C9orf3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:97488983-97849441", "ensembl_id": "ENSG00000148120" } }, "GRch38": { "90": { "location": "9:94726701-95087218", "ensembl_id": "ENSG00000148120" } } }, "hgnc_date_symbol_changed": "1999-01-28" }, "entity_type": "gene", "entity_name": "C9orf3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34596301" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Dystonia 31, MIM# 619565" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ12240", "L19", "KIAA0999", "QSK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29165", "gene_name": "SIK family kinase 3", "omim_gene": [ "614776" ], "alias_name": null, "gene_symbol": "SIK3", "hgnc_symbol": "SIK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:116714118-116969153", "ensembl_id": "ENSG00000160584" } }, "GRch38": { "90": { "location": "11:116843402-117098437", "ensembl_id": "ENSG00000160584" } } }, "hgnc_date_symbol_changed": "2009-09-04" }, "entity_type": "gene", "entity_name": "SIK3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30232230", "22318228" ], "evidence": [ "Expert Review Amber", "Literature", "Expert list" ], "phenotypes": [ "Spondyloepimetaphyseal dysplasia, Krakow type - #618162" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "MGC33486" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28497", "gene_name": "transmembrane protein 151A", "omim_gene": null, "alias_name": null, "gene_symbol": "TMEM151A", "hgnc_symbol": "TMEM151A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:66059341-66064135", "ensembl_id": "ENSG00000179292" } }, "GRch38": { "90": { "location": "11:66291870-66296664", "ensembl_id": "ENSG00000179292" } } }, "hgnc_date_symbol_changed": "2007-10-25" }, "entity_type": "gene", "entity_name": "TMEM151A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34820915", "34518509" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "episodic kinesigenic dyskinesia MONDO:0044202" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "NMMHCB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7568", "gene_name": "myosin heavy chain 10", "omim_gene": [ "160776" ], "alias_name": null, "gene_symbol": "MYH10", "hgnc_symbol": "MYH10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:8377523-8534079", "ensembl_id": "ENSG00000133026" } }, "GRch38": { "90": { "location": "17:8474205-8630761", "ensembl_id": "ENSG00000133026" } } }, "hgnc_date_symbol_changed": "1991-05-15" }, "entity_type": "gene", "entity_name": "MYH10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24825879", "24901346", "25356899", "22495309", "25003005" ], "evidence": [ "Expert Review Green", "Literature", "Expert list" ], "phenotypes": [ "AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:1463", "gene_name": "calcium/calmodulin dependent protein kinase II gamma", "omim_gene": [ "602123" ], "alias_name": null, "gene_symbol": "CAMK2G", "hgnc_symbol": "CAMK2G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:75572259-75634343", "ensembl_id": "ENSG00000148660" } }, "GRch38": { "90": { "location": "10:73812501-73874591", "ensembl_id": "ENSG00000148660" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "CAMK2G", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30184290", "23033978" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 59\tMIM# 618522" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "Helios" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13177", "gene_name": "IKAROS family zinc finger 2", "omim_gene": [ "606234" ], "alias_name": null, "gene_symbol": "IKZF2", "hgnc_symbol": "IKZF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:213864429-214017151", "ensembl_id": "ENSG00000030419" } }, "GRch38": { "90": { "location": "2:212999691-213152427", "ensembl_id": "ENSG00000030419" } } }, "hgnc_date_symbol_changed": "2006-08-25" }, "entity_type": "gene", "entity_name": "IKZF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34920454", "34826259", "39406892", "37316189" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Immunodysregulation with variable immunodeficiency and autoimmunity, MIM#\t621233", "Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234", "nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "MGC16925", "DKFZp434D229" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16491", "gene_name": "p53-induced death domain protein 1", "omim_gene": [ "605247" ], "alias_name": null, "gene_symbol": "PIDD1", "hgnc_symbol": "PIDD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:799179-809753", "ensembl_id": "ENSG00000177595" } }, "GRch38": { "90": { "location": "11:799179-809753", "ensembl_id": "ENSG00000177595" } } }, "hgnc_date_symbol_changed": "2014-05-01" }, "entity_type": "gene", "entity_name": "PIDD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28397838", "29302074", "33414379", "34163010" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "eRF3b", "FLJ10441" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4622", "gene_name": "G1 to S phase transition 2", "omim_gene": [ "300418" ], "alias_name": null, "gene_symbol": "GSPT2", "hgnc_symbol": "GSPT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:51486481-51489324", "ensembl_id": "ENSG00000189369" } }, "GRch38": { "90": { "location": "X:51743431-51746232", "ensembl_id": "ENSG00000189369" } } }, "hgnc_date_symbol_changed": "1999-05-05" }, "entity_type": "gene", "entity_name": "GSPT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28414775", "41420488" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, GSPT2-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:6161", "gene_name": "integrin subunit beta 6", "omim_gene": [ "147558" ], "alias_name": null, "gene_symbol": "ITGB6", "hgnc_symbol": "ITGB6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:160956177-161128399", "ensembl_id": "ENSG00000115221" } }, "GRch38": { "90": { "location": "2:160099666-160271888", "ensembl_id": "ENSG00000115221" } } }, "hgnc_date_symbol_changed": "1992-02-14" }, "entity_type": "gene", "entity_name": "ITGB6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25431241", "26695873", "24305999", "24319098" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Amelogenesis imperfecta, type IH, MIM# 616221" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ14993" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13764", "gene_name": "RELT, TNF receptor", "omim_gene": [ "611211" ], "alias_name": [ "receptor expressed in lymphoid tissues" ], "gene_symbol": "RELT", "hgnc_symbol": "RELT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:73087309-73108519", "ensembl_id": "ENSG00000054967" } }, "GRch38": { "90": { "location": "11:73376264-73397474", "ensembl_id": "ENSG00000054967" } } }, "hgnc_date_symbol_changed": "2007-06-14" }, "entity_type": "gene", "entity_name": "RELT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30506946" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Amelogenesis imperfecta, type IIIC, MIM# 618386" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "UNQ689", "RSTI689" ], "biotype": "protein_coding", "hgnc_id": "HGNC:33188", "gene_name": "amelotin", "omim_gene": [ "610912" ], "alias_name": null, "gene_symbol": "AMTN", "hgnc_symbol": "AMTN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:71384257-71398459", "ensembl_id": "ENSG00000187689" } }, "GRch38": { "90": { "location": "4:70518540-70532742", "ensembl_id": "ENSG00000187689" } } }, "hgnc_date_symbol_changed": "2006-12-06" }, "entity_type": "gene", "entity_name": "AMTN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "27412008", "25715379", "26620968" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Amelogenesis imperfecta, type IIIB" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "T54", "GPATC5", "GPATCH5", "Spp2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30677", "gene_name": "G-patch domain and KOW motifs", "omim_gene": [ "301003" ], "alias_name": [ "G patch domain containing 5" ], "gene_symbol": "GPKOW", "hgnc_symbol": "GPKOW", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48970334-48980151", "ensembl_id": "ENSG00000068394" } }, "GRch38": { "90": { "location": "X:49113389-49123801", "ensembl_id": "ENSG00000068394" } } }, "hgnc_date_symbol_changed": "2004-05-11" }, "entity_type": "gene", "entity_name": "GPKOW", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "28612833", "40221893", "32426895" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "syndromic disease, MONDO:0002254, GPKOW-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ22349" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26185", "gene_name": "coiled-coil domain containing 134", "omim_gene": null, "alias_name": null, "gene_symbol": "CCDC134", "hgnc_symbol": "CCDC134", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:42196683-42222303", "ensembl_id": "ENSG00000100147" } }, "GRch38": { "90": { "location": "22:41800679-41826299", "ensembl_id": "ENSG00000100147" } } }, "hgnc_date_symbol_changed": "2006-10-17" }, "entity_type": "gene", "entity_name": "CCDC134", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32181939", "34204301", "35019224" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Osteogenesis imperfecta, type XXII, MIM#619795" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "KIAA1861", "FLJ20097", "DKFZp313I2429", "VPS54L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25956", "gene_name": "VPS50, EARP/GARPII complex subunit", "omim_gene": [ "616465" ], "alias_name": [ "syndetin" ], "gene_symbol": "VPS50", "hgnc_symbol": "VPS50", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:92861653-92988338", "ensembl_id": "ENSG00000004766" } }, "GRch38": { "90": { "location": "7:93232340-93361121", "ensembl_id": "ENSG00000004766" } } }, "hgnc_date_symbol_changed": "2015-06-29" }, "entity_type": "gene", "entity_name": "VPS50", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34037727" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685", "Neonatal cholestatic liver disease", "Failure to thrive", "Profound global developmental delay", "Postnatal microcephaly", "Seizures", "Abnormality of the corpus callosum" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:941", "gene_name": "BCL2 associated athanogene 5", "omim_gene": [ "603885" ], "alias_name": null, "gene_symbol": "BAG5", "hgnc_symbol": "BAG5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:104022881-104029168", "ensembl_id": "ENSG00000166170" } }, "GRch38": { "90": { "location": "14:103556544-103562831", "ensembl_id": "ENSG00000166170" } } }, "hgnc_date_symbol_changed": "1999-04-23" }, "entity_type": "gene", "entity_name": "BAG5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35044787" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cardiomyopathy, dilated, 2F, MIM# 619747" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ22688", "Fy" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26219", "gene_name": "fuzzy planar cell polarity protein", "omim_gene": [ "610622" ], "alias_name": null, "gene_symbol": "FUZ", "hgnc_symbol": "FUZ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50310126-50320633", "ensembl_id": "ENSG00000010361" } }, "GRch38": { "90": { "location": "19:49806869-49817376", "ensembl_id": "ENSG00000010361" } } }, "hgnc_date_symbol_changed": "2006-06-21" }, "entity_type": "gene", "entity_name": "FUZ", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "21840926", "38702430", "29068549", "34719684" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "{Neural tube defects, susceptibility to}\tMIM#182940", "craniosynostosis, FUZ-related MONDO#0015469", "Ciliopathy_MONDO_0005308, FUZ-related", "skeletal ciliopathy" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "GPSN2L", "SRD5A2L2", "DKFZp313D0829", "DKFZp313B2333", "TERL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27365", "gene_name": "trans-2,3-enoyl-CoA reductase like", "omim_gene": [ "617242" ], "alias_name": [ "glycoprotein, synaptic 2-like" ], "gene_symbol": "TECRL", "hgnc_symbol": "TECRL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:65140975-65275186", "ensembl_id": "ENSG00000205678" } }, "GRch38": { "90": { "location": "4:64275257-64409468", "ensembl_id": "ENSG00000205678" } } }, "hgnc_date_symbol_changed": "2009-07-21" }, "entity_type": "gene", "entity_name": "TECRL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17666061", "27861123", "30790670", "33367594" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM#\t614021" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "NSCL2", "bHLHa34" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7818", "gene_name": "nescient helix-loop-helix 2", "omim_gene": [ "162361" ], "alias_name": null, "gene_symbol": "NHLH2", "hgnc_symbol": "NHLH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:116378998-116386538", "ensembl_id": "ENSG00000177551" } }, "GRch38": { "90": { "location": "1:115836377-115843917", "ensembl_id": "ENSG00000177551" } } }, "hgnc_date_symbol_changed": "1992-07-08" }, "entity_type": "gene", "entity_name": "NHLH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35066646" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "OSTalpha" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29955", "gene_name": "solute carrier family 51 alpha subunit", "omim_gene": [ "612084" ], "alias_name": [ "organic solute transporter, alpha subunit" ], "gene_symbol": "SLC51A", "hgnc_symbol": "SLC51A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:195938358-195970049", "ensembl_id": "ENSG00000163959" } }, "GRch38": { "90": { "location": "3:196211487-196243178", "ensembl_id": "ENSG00000163959" } } }, "hgnc_date_symbol_changed": "2012-08-03" }, "entity_type": "gene", "entity_name": "SLC51A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31863603" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cholestasis, progressive familial intrahepatic, 6, MIM# 619484" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "HP", "ARHGAP7", "STARD12", "DLC-1", "p122-RhoGAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2897", "gene_name": "DLC1 Rho GTPase activating protein", "omim_gene": [ "604258" ], "alias_name": [ "StAR-related lipid transfer (START) domain containing 12" ], "gene_symbol": "DLC1", "hgnc_symbol": "DLC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:12940870-13373167", "ensembl_id": "ENSG00000164741" } }, "GRch38": { "90": { "location": "8:13083361-13604610", "ensembl_id": "ENSG00000164741" } } }, "hgnc_date_symbol_changed": "1999-06-17" }, "entity_type": "gene", "entity_name": "DLC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29773874" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Nephrotic syndrome MONDO:0005377" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "OCT", "FLJ11751", "FLJ30634", "KIAA0463" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9100", "gene_name": "plexin A2", "omim_gene": [ "601054" ], "alias_name": [ "plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT" ], "gene_symbol": "PLXNA2", "hgnc_symbol": "PLXNA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:208195587-208417665", "ensembl_id": "ENSG00000076356" } }, "GRch38": { "90": { "location": "1:208022242-208244320", "ensembl_id": "ENSG00000076356" } } }, "hgnc_date_symbol_changed": "1998-08-13" }, "entity_type": "gene", "entity_name": "PLXNA2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34327814" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Complex neurodevelopmental disorder, PLXNA2-related, MONDO:0100038" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "CstF-64" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2484", "gene_name": "cleavage stimulation factor subunit 2", "omim_gene": [ "300907" ], "alias_name": null, "gene_symbol": "CSTF2", "hgnc_symbol": "CSTF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:100075384-100095921", "ensembl_id": "ENSG00000101811" } }, "GRch38": { "90": { "location": "X:100820359-100840932", "ensembl_id": "ENSG00000101811" } } }, "hgnc_date_symbol_changed": "1994-12-12" }, "entity_type": "gene", "entity_name": "CSTF2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32816001" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, X-linked 113, MIM# 301116" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "MGC3130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28460", "gene_name": "chromosome 17 open reading frame 53", "omim_gene": null, "alias_name": null, "gene_symbol": "C17orf53", "hgnc_symbol": "C17orf53", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42219274-42239844", "ensembl_id": "ENSG00000125319" } }, "GRch38": { "90": { "location": "17:44141906-44162476", "ensembl_id": "ENSG00000125319" } } }, "hgnc_date_symbol_changed": "2005-12-15" }, "entity_type": "gene", "entity_name": "C17orf53", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34707299", "31467087" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Ovarian dysgenesis 11, MIM# 620897" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:654", "gene_name": "ADP ribosylation factor 3", "omim_gene": [ "103190" ], "alias_name": [ "small GTP binding protein" ], "gene_symbol": "ARF3", "hgnc_symbol": "ARF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49329506-49351334", "ensembl_id": "ENSG00000134287" } }, "GRch38": { "90": { "location": "12:48935723-48957551", "ensembl_id": "ENSG00000134287" } } }, "hgnc_date_symbol_changed": "1992-07-09" }, "entity_type": "gene", "entity_name": "ARF3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34346499", "36369169" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, ARF3-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "GSA7", "DKFZp434N0735" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16935", "gene_name": "autophagy related 7", "omim_gene": [ "608760" ], "alias_name": [ "ubiquitin-activating enzyme E1-like protein" ], "gene_symbol": "ATG7", "hgnc_symbol": "ATG7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:11313995-11599139", "ensembl_id": "ENSG00000197548" } }, "GRch38": { "90": { "location": "3:11272309-11557665", "ensembl_id": "ENSG00000197548" } } }, "hgnc_date_symbol_changed": "2005-09-11" }, "entity_type": "gene", "entity_name": "ATG7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34161705" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spinocerebellar ataxia, SCAR31, MIM#619422" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ10597" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25552", "gene_name": "ring finger protein 220", "omim_gene": [ "616136" ], "alias_name": null, "gene_symbol": "RNF220", "hgnc_symbol": "RNF220", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:44870866-45117396", "ensembl_id": "ENSG00000187147" } }, "GRch38": { "90": { "location": "1:44405194-44651724", "ensembl_id": "ENSG00000187147" } } }, "hgnc_date_symbol_changed": "2008-06-13" }, "entity_type": "gene", "entity_name": "RNF220", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33964137", "10881263" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM#\t619688", "Leukodystrophy", "CNS hypomyelination", "Ataxia", "Intellectual disability", "Sensorineural hearing impairment", "Elevated hepatic transaminases", "Hepatic fibrosis", "Dilated cardiomyopathy", "Spastic paraplegia", "Dysarthria", "Abnormality of the corpus callosum" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:4317", "gene_name": "GLI family zinc finger 1", "omim_gene": [ "165220" ], "alias_name": null, "gene_symbol": "GLI1", "hgnc_symbol": "GLI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:57853918-57866045", "ensembl_id": "ENSG00000111087" } }, "GRch38": { "90": { "location": "12:57460135-57472262", "ensembl_id": "ENSG00000111087" } } }, "hgnc_date_symbol_changed": "2005-01-14" }, "entity_type": "gene", "entity_name": "GLI1", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "34721536", "31621941", "31549748", "30620395" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Postaxial polydactyly MONDO:0020927, GLI1-related", "Polydactyly, postaxial, type A8 MIM#618123", "Polydactyly, preaxial I MIM#174400" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "NOV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9099", "gene_name": "plexin A1", "omim_gene": [ "601055" ], "alias_name": null, "gene_symbol": "PLXNA1", "hgnc_symbol": "PLXNA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:126707437-126756235", "ensembl_id": "ENSG00000114554" } }, "GRch38": { "90": { "location": "3:126988594-127037392", "ensembl_id": "ENSG00000114554" } } }, "hgnc_date_symbol_changed": "1998-08-13" }, "entity_type": "gene", "entity_name": "PLXNA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34054129", "28464511", "28334861", "30467832", "34636164" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955", "Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "CKI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1937", "gene_name": "choline kinase alpha", "omim_gene": [ "118491" ], "alias_name": null, "gene_symbol": "CHKA", "hgnc_symbol": "CHKA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:67820326-67888911", "ensembl_id": "ENSG00000110721" } }, "GRch38": { "90": { "location": "11:68052859-68121444", "ensembl_id": "ENSG00000110721" } } }, "hgnc_date_symbol_changed": "2004-04-21" }, "entity_type": "gene", "entity_name": "CHKA", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "35202461" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:443", "gene_name": "ALS2, alsin Rho guanine nucleotide exchange factor", "omim_gene": [ "606352" ], "alias_name": [ "alsin" ], "gene_symbol": "ALS2", "hgnc_symbol": "ALS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:202565277-202645912", "ensembl_id": "ENSG00000003393" } }, "GRch38": { "90": { "location": "2:201700554-201781189", "ensembl_id": "ENSG00000003393" } } }, "hgnc_date_symbol_changed": "1992-11-19" }, "entity_type": "gene", "entity_name": "ALS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30128655, 33409823, 11586298, 16240357, 23282280, 24562058, 33155358" ], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [ "ALS2-related motor neuron disease, MONDO:0100227" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "MgcRacGAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9804", "gene_name": "Rac GTPase activating protein 1", "omim_gene": [ "604980" ], "alias_name": null, "gene_symbol": "RACGAP1", "hgnc_symbol": "RACGAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:50370706-50426919", "ensembl_id": "ENSG00000161800" } }, "GRch38": { "90": { "location": "12:49976923-50033136", "ensembl_id": "ENSG00000161800" } } }, "hgnc_date_symbol_changed": "1999-09-09" }, "entity_type": "gene", "entity_name": "RACGAP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34818416" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive 619789" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "Kv4.2", "RK5", "KIAA1044" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6238", "gene_name": "potassium voltage-gated channel subfamily D member 2", "omim_gene": [ "605410" ], "alias_name": null, "gene_symbol": "KCND2", "hgnc_symbol": "KCND2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:119913722-120390385", "ensembl_id": "ENSG00000184408" } }, "GRch38": { "90": { "location": "7:120273668-120750331", "ensembl_id": "ENSG00000184408" } } }, "hgnc_date_symbol_changed": "1992-10-05" }, "entity_type": "gene", "entity_name": "KCND2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "24501278", "16934482", "29581270", "34245260" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, KCND2-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ20644", "G4-1", "G5PR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17485", "gene_name": "protein phosphatase 2 regulatory subunit B''gamma", "omim_gene": [ "615902" ], "alias_name": null, "gene_symbol": "PPP2R3C", "hgnc_symbol": "PPP2R3C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:35554673-35591723", "ensembl_id": "ENSG00000092020" } }, "GRch38": { "90": { "location": "14:35085467-35122517", "ensembl_id": "ENSG00000092020" } } }, "hgnc_date_symbol_changed": "2007-01-22" }, "entity_type": "gene", "entity_name": "PPP2R3C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30893644", "34714774", "34750818" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "PAPPE", "PAPP-A2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14615", "gene_name": "pappalysin 2", "omim_gene": null, "alias_name": null, "gene_symbol": "PAPPA2", "hgnc_symbol": "PAPPA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:176432307-176814735", "ensembl_id": "ENSG00000116183" } }, "GRch38": { "90": { "location": "1:176463171-176845605", "ensembl_id": "ENSG00000116183" } } }, "hgnc_date_symbol_changed": "2004-07-09" }, "entity_type": "gene", "entity_name": "PAPPA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26902202", "34272725", "32739295" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Short stature, Dauber-Argente type, MIM#619489" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ38725", "FAMIN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26789", "gene_name": "laccase domain containing 1", "omim_gene": [ "613409" ], "alias_name": [ "fatty acid metabolismâimmunity nexus" ], "gene_symbol": "LACC1", "hgnc_symbol": "LACC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:44453420-44468068", "ensembl_id": "ENSG00000179630" } }, "GRch38": { "90": { "location": "13:43879284-43893932", "ensembl_id": "ENSG00000179630" } } }, "hgnc_date_symbol_changed": "2011-08-09" }, "entity_type": "gene", "entity_name": "LACC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25220867", "27881174", "30872671", "33718577" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Juvenile arthritis MIM#618795" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ38144", "hang" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24750", "gene_name": "zinc finger protein 699", "omim_gene": [ "609571" ], "alias_name": null, "gene_symbol": "ZNF699", "hgnc_symbol": "ZNF699", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:9404951-9420514", "ensembl_id": "ENSG00000196110" } }, "GRch38": { "90": { "location": "19:9294275-9309838", "ensembl_id": "ENSG00000196110" } } }, "hgnc_date_symbol_changed": "2005-08-11" }, "entity_type": "gene", "entity_name": "ZNF699", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33875846" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "DEGCAGS syndrome, MIM# 619488" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "ovastacin", "SAS1B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:31704", "gene_name": "astacin like metalloendopeptidase", "omim_gene": [ "608860" ], "alias_name": [ "sperm acrosomal SLLP1 binding" ], "gene_symbol": "ASTL", "hgnc_symbol": "ASTL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:96789589-96804175", "ensembl_id": "ENSG00000188886" } }, "GRch38": { "90": { "location": "2:96123850-96138436", "ensembl_id": "ENSG00000188886" } } }, "hgnc_date_symbol_changed": "2004-07-01" }, "entity_type": "gene", "entity_name": "ASTL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34704130", "37640117", "37133443" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Oocyte maturation defect 11, MIM#\t619643" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "MGC33951" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28520", "gene_name": "telomere repeat binding bouquet formation protein 2", "omim_gene": [ "617131" ], "alias_name": null, "gene_symbol": "TERB2", "hgnc_symbol": "TERB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:45248900-45271427", "ensembl_id": "ENSG00000167014" } }, "GRch38": { "90": { "location": "15:44956702-44979229", "ensembl_id": "ENSG00000167014" } } }, "hgnc_date_symbol_changed": "2016-05-17" }, "entity_type": "gene", "entity_name": "TERB2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33211200" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Spermatogenic failure 59, MIM#\t619645" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:28971", "gene_name": "scaffolding protein involved in DNA repair", "omim_gene": [ "615384" ], "alias_name": null, "gene_symbol": "SPIDR", "hgnc_symbol": "SPIDR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:48173167-48648868", "ensembl_id": "ENSG00000164808" } }, "GRch38": { "90": { "location": "8:47260575-47736306", "ensembl_id": "ENSG00000164808" } } }, "hgnc_date_symbol_changed": "2013-07-02" }, "entity_type": "gene", "entity_name": "SPIDR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34794894", "34697795", "27967308" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ovarian dysgenesis 9, MIM# 619665" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "Rec8p", "kleisin-alpha" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16879", "gene_name": "REC8 meiotic recombination protein", "omim_gene": [ "608193" ], "alias_name": null, "gene_symbol": "REC8", "hgnc_symbol": "REC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:24641062-24649463", "ensembl_id": "ENSG00000100918" } }, "GRch38": { "90": { "location": "14:24171853-24180257", "ensembl_id": "ENSG00000100918" } } }, "hgnc_date_symbol_changed": "2007-04-03" }, "entity_type": "gene", "entity_name": "REC8", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34794894", "15515002", "34707299", "35172124", "31479588" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Infertility disorder, MONDO:0005047, REC8-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:7327", "gene_name": "mutS homolog 4", "omim_gene": [ "602105" ], "alias_name": null, "gene_symbol": "MSH4", "hgnc_symbol": "MSH4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:76262567-76378923", "ensembl_id": "ENSG00000057468" } }, "GRch38": { "90": { "location": "1:75796882-75913238", "ensembl_id": "ENSG00000057468" } } }, "hgnc_date_symbol_changed": "1997-08-22" }, "entity_type": "gene", "entity_name": "MSH4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34794894", "10809667", "12478991", "28541421", "32741963", "33437391", "34755185", "33448284" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Primary ovarian insufficiency", "azoospermia" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "MGC35212" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28569", "gene_name": "meiosis specific with OB domains", "omim_gene": [ "617670" ], "alias_name": null, "gene_symbol": "MEIOB", "hgnc_symbol": "MEIOB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1883984-1934295", "ensembl_id": "ENSG00000162039" } }, "GRch38": { "90": { "location": "16:1833983-1884294", "ensembl_id": "ENSG00000162039" } } }, "hgnc_date_symbol_changed": "2012-08-13" }, "entity_type": "gene", "entity_name": "MEIOB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34794894", "24068956", "31000419", "28206990", "35991565", "34392356", "31000419" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 22 MIM#617706", "Premature ovarian failure 23, MIM# 620686" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "Hel308" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18536", "gene_name": "helicase, POLQ like", "omim_gene": [ "606769" ], "alias_name": null, "gene_symbol": "HELQ", "hgnc_symbol": "HELQ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:84328496-84377009", "ensembl_id": "ENSG00000163312" } }, "GRch38": { "90": { "location": "4:83407343-83455856", "ensembl_id": "ENSG00000163312" } } }, "hgnc_date_symbol_changed": "2009-02-26" }, "entity_type": "gene", "entity_name": "HELQ", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34794894", "24005329", "33095795" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Primary ovarian insufficiency MONDO:0005387, HELQ-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "H-PAST", "HPAST1", "FLJ42622", "FLJ44618" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3242", "gene_name": "EH domain containing 1", "omim_gene": [ "605888" ], "alias_name": [ "testilin" ], "gene_symbol": "EHD1", "hgnc_symbol": "EHD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64619114-64655768", "ensembl_id": "ENSG00000110047" } }, "GRch38": { "90": { "location": "11:64851642-64888296", "ensembl_id": "ENSG00000110047" } } }, "hgnc_date_symbol_changed": "1999-08-11" }, "entity_type": "gene", "entity_name": "EHD1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35149593" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Inherited renal tubular disease, MONDO:0015962, EHD1-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "BLOS1", "BORCS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4200", "gene_name": "biogenesis of lysosomal organelles complex 1 subunit 1", "omim_gene": [ "601444" ], "alias_name": [ "GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1", "BLOC-1 Subunit 1", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 1" ], "gene_symbol": "BLOC1S1", "hgnc_symbol": "BLOC1S1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:56109820-56113871", "ensembl_id": "ENSG00000135441" } }, "GRch38": { "90": { "location": "12:55716037-55720087", "ensembl_id": "ENSG00000135441" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "BLOC1S1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33875846" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:11805", "gene_name": "T-cell lymphoma invasion and metastasis 1", "omim_gene": [ "600687" ], "alias_name": null, "gene_symbol": "TIAM1", "hgnc_symbol": "TIAM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:32490734-32932290", "ensembl_id": "ENSG00000156299" } }, "GRch38": { "90": { "location": "21:31118416-31559977", "ensembl_id": "ENSG00000156299" } } }, "hgnc_date_symbol_changed": "1994-04-22" }, "entity_type": "gene", "entity_name": "TIAM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "https://doi.org/10.1016/j.ajhg.2022.01.020" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with language delay and seizures, MIM#\t619908" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ14751", "DIE2", "ALG10A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23162", "gene_name": "ALG10, alpha-1,2-glucosyltransferase", "omim_gene": [ "603313" ], "alias_name": [ "derepression of ITR1 expression 2 homolog (S. cerevisiae)", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase" ], "gene_symbol": "ALG10", "hgnc_symbol": "ALG10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:34175216-34182629", "ensembl_id": "ENSG00000139133" } }, "GRch38": { "90": { "location": "12:34022281-34029694", "ensembl_id": "ENSG00000139133" } } }, "hgnc_date_symbol_changed": "2003-10-15" }, "entity_type": "gene", "entity_name": "ALG10", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33798445" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation, MONDO:0015286, ALG10-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "hmunc13", "Unc13h2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12566", "gene_name": "unc-13 homolog B", "omim_gene": [ "605836" ], "alias_name": null, "gene_symbol": "UNC13B", "hgnc_symbol": "UNC13B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:35161999-35405335", "ensembl_id": "ENSG00000198722" } }, "GRch38": { "90": { "location": "9:35161992-35405338", "ensembl_id": "ENSG00000198722" } } }, "hgnc_date_symbol_changed": "2003-10-17" }, "entity_type": "gene", "entity_name": "UNC13B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33876820" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Epilepsy" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "TAFII130", "TAFII135" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11537", "gene_name": "TATA-box binding protein associated factor 4", "omim_gene": [ "601796" ], "alias_name": null, "gene_symbol": "TAF4", "hgnc_symbol": "TAF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:60528525-60640866", "ensembl_id": "ENSG00000130699" } }, "GRch38": { "90": { "location": "20:61953469-62065810", "ensembl_id": "ENSG00000130699" } } }, "hgnc_date_symbol_changed": "2002-01-18" }, "entity_type": "gene", "entity_name": "TAF4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33875846", "28191890", "35904126" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 73, MIM# 620450" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ23277", "FLJ11328", "FLJ20103", "FLJ23054", "MGC14879" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18533", "gene_name": "ubiquitin specific peptidase 48", "omim_gene": [ "617445" ], "alias_name": null, "gene_symbol": "USP48", "hgnc_symbol": "USP48", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:22004791-22110099", "ensembl_id": "ENSG00000090686" } }, "GRch38": { "90": { "location": "1:21678298-21783606", "ensembl_id": "ENSG00000090686" } } }, "hgnc_date_symbol_changed": "2004-04-07" }, "entity_type": "gene", "entity_name": "USP48", "confidence_level": "3", "penetrance": "Incomplete", "mode_of_pathogenicity": null, "publications": [ "34059922" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Deafness, autosomal dominant 85, MIM# 620227" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:9077", "gene_name": "polo like kinase 1", "omim_gene": [ "602098" ], "alias_name": null, "gene_symbol": "PLK1", "hgnc_symbol": "PLK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23688977-23701688", "ensembl_id": "ENSG00000166851" } }, "GRch38": { "90": { "location": "16:23677656-23690367", "ensembl_id": "ENSG00000166851" } } }, "hgnc_date_symbol_changed": "2004-01-28" }, "entity_type": "gene", "entity_name": "PLK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33875846" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, PLK1-related, 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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ23119", "KIAA1790", "Roco1", "RIPK6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18608", "gene_name": "leucine rich repeat kinase 1", "omim_gene": [ "610986" ], "alias_name": null, "gene_symbol": "LRRK1", "hgnc_symbol": "LRRK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:101459420-101610317", "ensembl_id": "ENSG00000154237" } }, "GRch38": { "90": { "location": "15:100919215-101078254", "ensembl_id": "ENSG00000154237" } } }, "hgnc_date_symbol_changed": "2004-01-22" }, "entity_type": "gene", "entity_name": "LRRK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27829680", "27055475", "31571209", "32119750" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "MT2-MMP", "MTMMP2", "SMCP-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7161", "gene_name": "matrix metallopeptidase 15", "omim_gene": [ "602261" ], "alias_name": null, "gene_symbol": "MMP15", "hgnc_symbol": "MMP15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:58059470-58080805", "ensembl_id": "ENSG00000102996" } }, "GRch38": { "90": { "location": "16:58025566-58046901", "ensembl_id": "ENSG00000102996" } } }, "hgnc_date_symbol_changed": "1996-11-13" }, "entity_type": "gene", "entity_name": "MMP15", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33875846", "36349822" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Cholestasis", "Congenital heart disease" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "REPA1", "RPA70", "HSSB", "RF-A", "RP-A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10289", "gene_name": "replication protein A1", "omim_gene": [ "179835" ], "alias_name": null, "gene_symbol": "RPA1", "hgnc_symbol": "RPA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:1732996-1803376", "ensembl_id": "ENSG00000132383" } }, "GRch38": { "90": { "location": "17:1829702-1900082", "ensembl_id": "ENSG00000132383" } } }, "hgnc_date_symbol_changed": "1993-12-14" }, "entity_type": "gene", "entity_name": "RPA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "34767620" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767", "Bone marrow failure", "T- and B-cell lymphopaenia", "pulmonary fibrosis", "skin manifestations", "short telomeres" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "dJ171N11.1", "BIG3", "PPP1R33" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21213", "gene_name": "ARFGEF family member 3", "omim_gene": [ "617411" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 33" ], "gene_symbol": "ARFGEF3", "hgnc_symbol": "ARFGEF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:138483058-138665800", "ensembl_id": "ENSG00000112379" } }, "GRch38": { "90": { "location": "6:138161921-138344663", "ensembl_id": "ENSG00000112379" } } }, "hgnc_date_symbol_changed": "2015-01-26" }, "entity_type": "gene", "entity_name": "ARFGEF3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33098801" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Dystonia, MONDO:0044807, ARFGEF3-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ37587" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13879", "gene_name": "myosin IH", "omim_gene": [ "614636" ], "alias_name": null, "gene_symbol": "MYO1H", "hgnc_symbol": "MYO1H", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:109785708-109893328", "ensembl_id": "ENSG00000174527" } }, "GRch38": { "90": { "location": "12:109347903-109455523", "ensembl_id": "ENSG00000174527" } } }, "hgnc_date_symbol_changed": "2000-11-28" }, "entity_type": "gene", "entity_name": "MYO1H", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28779001" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, MIM#619482" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "CH1", "SLP1", "OPT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1240", "gene_name": "SUN domain containing ossification factor", "omim_gene": null, "alias_name": [ "SUN-like protein 1", "osteopotentia" ], "gene_symbol": "SUCO", "hgnc_symbol": "SUCO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:172501489-172580971", "ensembl_id": "ENSG00000094975" } }, "GRch38": { "90": { "location": "1:172532349-172611833", "ensembl_id": "ENSG00000094975" } } }, "hgnc_date_symbol_changed": "2012-07-10" }, "entity_type": "gene", "entity_name": "SUCO", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29620724", "20440000", "41282771" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Syndromic disease (MONDO:0002254), SUCO-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:3683", "gene_name": "fibroblast growth factor 5", "omim_gene": [ "165190" ], "alias_name": null, "gene_symbol": "FGF5", "hgnc_symbol": "FGF5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:81187753-81257834", "ensembl_id": "ENSG00000138675" } }, "GRch38": { "90": { "location": "4:80266599-80336680", "ensembl_id": "ENSG00000138675" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "FGF5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24989505" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "hypertrichosis MONDO:0019280" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "RNF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10018", "gene_name": "ring finger protein 1", "omim_gene": [ "602045" ], "alias_name": null, "gene_symbol": "RING1", "hgnc_symbol": "RING1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33176272-33180499", "ensembl_id": "ENSG00000204227" } }, "GRch38": { "90": { "location": "6:33208495-33212722", "ensembl_id": "ENSG00000204227" } } }, "hgnc_date_symbol_changed": "1997-02-11" }, "entity_type": "gene", "entity_name": "RING1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29386386" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "microcephaly", "intellectual disability" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "NS5ATP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4907", "gene_name": "3-hydroxyisobutyrate dehydrogenase", "omim_gene": [ "608475" ], "alias_name": null, "gene_symbol": "HIBADH", "hgnc_symbol": "HIBADH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:27565061-27702614", "ensembl_id": "ENSG00000106049" } }, "GRch38": { "90": { "location": "7:27525442-27662995", "ensembl_id": "ENSG00000106049" } } }, "hgnc_date_symbol_changed": "1999-08-05" }, "entity_type": "gene", "entity_name": "HIBADH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34176136" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "3-hydroxyisobutyric aciduria MONDO:0009371, HIBADH-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "MGC33864" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24048", "gene_name": "ADP ribosylation factor like GTPase 6 interacting protein 6", "omim_gene": [ "616495" ], "alias_name": null, "gene_symbol": "ARL6IP6", "hgnc_symbol": "ARL6IP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:153574407-153617767", "ensembl_id": "ENSG00000177917" } }, "GRch38": { "90": { "location": "2:152717893-152761253", "ensembl_id": "ENSG00000177917" } } }, "hgnc_date_symbol_changed": "2004-11-29" }, "entity_type": "gene", "entity_name": "ARL6IP6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31142202" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cutis marmorata telangiectatica congenita" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "DKFZP686C2281", "FLJ45135", "MGC125288", "MGC125289" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3768", "gene_name": "formin 1", "omim_gene": [ "136535" ], "alias_name": [ "limb deformity protein" ], "gene_symbol": "FMN1", "hgnc_symbol": "FMN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:33057747-33486897", "ensembl_id": "ENSG00000248905" } }, "GRch38": { "90": { "location": "15:32765545-33194733", "ensembl_id": "ENSG00000248905" } } }, "hgnc_date_symbol_changed": "2005-01-22" }, "entity_type": "gene", "entity_name": "FMN1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20610440", "19383632", "15202026", "36928819" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Hearing loss disorder MONDO:0005365" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ10851" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25590", "gene_name": "oxoglutarate dehydrogenase like", "omim_gene": [ "617513" ], "alias_name": null, "gene_symbol": "OGDHL", "hgnc_symbol": "OGDHL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:50942689-50970425", "ensembl_id": "ENSG00000197444" } }, "GRch38": { "90": { "location": "10:49734643-49762379", "ensembl_id": "ENSG00000197444" } } }, "hgnc_date_symbol_changed": "2004-05-27" }, "entity_type": "gene", "entity_name": "OGDHL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 34800363" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Yoon-Bellen neurodevelopmental syndrome, MIM# 619701", "Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "SHOT", "OG12X", "OG12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10854", "gene_name": "short stature homeobox 2", "omim_gene": [ "602504" ], "alias_name": null, "gene_symbol": "SHOX2", "hgnc_symbol": "SHOX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:157814948-157824292", "ensembl_id": "ENSG00000168779" } }, "GRch38": { "90": { "location": "3:158095954-158106503", "ensembl_id": "ENSG00000168779" } } }, "hgnc_date_symbol_changed": "1998-06-05" }, "entity_type": "gene", "entity_name": "SHOX2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30443179" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Sinus Node Dysfunction", "Atrial Fibrillation" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:6834", "gene_name": "monoamine oxidase B", "omim_gene": [ "309860" ], "alias_name": null, "gene_symbol": "MAOB", "hgnc_symbol": "MAOB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:43625858-43741693", "ensembl_id": "ENSG00000069535" } }, "GRch38": { "90": { "location": "X:43766611-43882447", "ensembl_id": "ENSG00000069535" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "MAOB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31700678" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Cerebral palsy" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:3677", "gene_name": "fibroblast growth factor 20", "omim_gene": [ "605558" ], "alias_name": null, "gene_symbol": "FGF20", "hgnc_symbol": "FGF20", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:16849678-16859690", "ensembl_id": "ENSG00000078579" } }, "GRch38": { "90": { "location": "8:16992169-17002181", "ensembl_id": "ENSG00000078579" } } }, "hgnc_date_symbol_changed": "1999-11-19" }, "entity_type": "gene", "entity_name": "FGF20", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22698282" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Renal hypodysplasia/aplasia 2, MIM#615721" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:1950", "gene_name": "cholinergic receptor muscarinic 1", "omim_gene": [ "118510" ], "alias_name": [ "acetylcholine receptor, muscarinic 1" ], "gene_symbol": "CHRM1", "hgnc_symbol": "CHRM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:62676151-62689279", "ensembl_id": "ENSG00000168539" } }, "GRch38": { "90": { "location": "11:62908679-62921807", "ensembl_id": "ENSG00000168539" } } }, "hgnc_date_symbol_changed": "1988-08-03" }, "entity_type": "gene", "entity_name": "CHRM1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34212451", "31981491", "12483218" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental delay", "intellectual disability", "autism" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "PSF2", "Pfs2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24575", "gene_name": "GINS complex subunit 2", "omim_gene": [ "610609" ], "alias_name": null, "gene_symbol": "GINS2", "hgnc_symbol": "GINS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:85709804-85723679", "ensembl_id": "ENSG00000131153" } }, "GRch38": { "90": { "location": "16:85676198-85690073", "ensembl_id": "ENSG00000131153" } } }, "hgnc_date_symbol_changed": "2006-05-04" }, "entity_type": "gene", "entity_name": "GINS2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34353863" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Meier-Gorlin syndrome with craniosynostosis MONDO:0016817" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "LBX1H", "HPX6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16960", "gene_name": "ladybird homeobox 1", "omim_gene": [ "604255" ], "alias_name": null, "gene_symbol": "LBX1", "hgnc_symbol": "LBX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:102986733-102989551", "ensembl_id": "ENSG00000138136" } }, "GRch38": { "90": { "location": "10:101226195-101229794", "ensembl_id": "ENSG00000138136" } } }, "hgnc_date_symbol_changed": "2005-04-28" }, "entity_type": "gene", "entity_name": "LBX1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30487221" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Central hypoventilation syndrome, congenital, 3, MIM#619483" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:11982", "gene_name": "target of myb1 membrane trafficking protein", "omim_gene": [ "604700" ], "alias_name": null, "gene_symbol": "TOM1", "hgnc_symbol": "TOM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:35695268-35743985", "ensembl_id": "ENSG00000100284" } }, "GRch38": { "90": { "location": "22:35299275-35347994", "ensembl_id": "ENSG00000100284" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "TOM1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31263572", "40936361", "33864888" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Immunodeficiency 85 and autoimmunity, MIM# 619510" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "KIAA1902" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18267", "gene_name": "formin like 2", "omim_gene": [ "616285" ], "alias_name": null, "gene_symbol": "FMNL2", "hgnc_symbol": "FMNL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:153191751-153506348", "ensembl_id": "ENSG00000157827" } }, "GRch38": { "90": { "location": "2:152335237-152649834", "ensembl_id": "ENSG00000157827" } } }, "hgnc_date_symbol_changed": "2003-12-03" }, "entity_type": "gene", "entity_name": "FMNL2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "34043722" ], "evidence": [ "Expert Review Red", "Literature", "Expert Review Red", "Literature" ], "phenotypes": [ "inflammatory bowel disease, MONDO:0005265, FMNL2-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ35355", "MAK3", "Mak3p" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19844", "gene_name": "N(alpha)-acetyltransferase 30, NatC catalytic subunit", "omim_gene": null, "alias_name": null, "gene_symbol": "NAA30", "hgnc_symbol": "NAA30", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:57857262-57882635", "ensembl_id": "ENSG00000139977" } }, "GRch38": { "90": { "location": "14:57390544-57415917", "ensembl_id": "ENSG00000139977" } } }, "hgnc_date_symbol_changed": "2010-01-14" }, "entity_type": "gene", "entity_name": "NAA30", "confidence_level": "1", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 37387332" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "neurodevelopmental disorder, MONDO:0700092, NAA30-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:30402", "gene_name": "SUMO1/sentrin specific peptidase 7", "omim_gene": [ "612846" ], "alias_name": null, "gene_symbol": "SENP7", "hgnc_symbol": "SENP7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:101043049-101232085", "ensembl_id": "ENSG00000138468" } }, "GRch38": { "90": { "location": "3:101324205-101513241", "ensembl_id": "ENSG00000138468" } } }, "hgnc_date_symbol_changed": "2004-02-20" }, "entity_type": "gene", "entity_name": "SENP7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37460201", "38972567" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "NBCn2", "NCBE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13811", "gene_name": "solute carrier family 4 member 10", "omim_gene": [ "605556" ], "alias_name": null, "gene_symbol": "SLC4A10", "hgnc_symbol": "SLC4A10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:162280843-162841792", "ensembl_id": "ENSG00000144290" } }, "GRch38": { "90": { "location": "2:161424332-161985282", "ensembl_id": "ENSG00000144290" } } }, "hgnc_date_symbol_changed": "2000-11-09" }, "entity_type": "gene", "entity_name": "SLC4A10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37459438" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "SED5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11440", "gene_name": "syntaxin 5", "omim_gene": [ "603189" ], "alias_name": null, "gene_symbol": "STX5", "hgnc_symbol": "STX5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:62574369-62599560", "ensembl_id": "ENSG00000162236" } }, "GRch38": { "90": { "location": "11:62806897-62832088", "ensembl_id": "ENSG00000162236" } } }, "hgnc_date_symbol_changed": "2006-04-25" }, "entity_type": "gene", "entity_name": "STX5", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34711829" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "congenital disorder of glycosylation MONDO#0015286, STX5-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "TP1", "TLP1", "VAULT2", "p240", "TROVE1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11726", "gene_name": "telomerase associated protein 1", "omim_gene": [ "601686" ], "alias_name": [ "TROVE domain family, member 1" ], "gene_symbol": "TEP1", "hgnc_symbol": "TEP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:20833826-20881588", "ensembl_id": "ENSG00000129566" } }, "GRch38": { "90": { "location": "14:20365667-20413429", "ensembl_id": "ENSG00000129566" } } }, "hgnc_date_symbol_changed": "1997-09-05" }, "entity_type": "gene", "entity_name": "TEP1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34543729" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Cerebral palsy, MONDO:0006497, TEP1-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "LAT1", "E16", "D16S469E", "MPE16", "CD98" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11063", "gene_name": "solute carrier family 7 member 5", "omim_gene": [ "600182" ], "alias_name": null, "gene_symbol": "SLC7A5", "hgnc_symbol": "SLC7A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:87863629-87903094", "ensembl_id": "ENSG00000103257" } }, "GRch38": { "90": { "location": "16:87830023-87869488", "ensembl_id": "ENSG00000103257" } } }, "hgnc_date_symbol_changed": "1999-01-28" }, "entity_type": "gene", "entity_name": "SLC7A5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29884839" ], "evidence": [ "Expert Review Red", "Other" ], "phenotypes": [ "Large neutral amino acid transporter deficiency (MIM#600182)" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "Kv4.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6237", "gene_name": "potassium voltage-gated channel subfamily D member 1", "omim_gene": [ "300281" ], "alias_name": null, "gene_symbol": "KCND1", "hgnc_symbol": "KCND1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48818639-48827976", "ensembl_id": "ENSG00000102057" } }, "GRch38": { "90": { "location": "X:48961378-48971569", "ensembl_id": "ENSG00000102057" } } }, "hgnc_date_symbol_changed": "1991-08-13" }, "entity_type": "gene", "entity_name": "KCND1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38772379" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, KCND1-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FLJ34221", "FLJ34272", "FLJ35277" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23837", "gene_name": "anoctamin 4", "omim_gene": [ "610111" ], "alias_name": null, "gene_symbol": "ANO4", "hgnc_symbol": "ANO4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:101111304-101522419", "ensembl_id": "ENSG00000151572" } }, "GRch38": { "90": { "location": "12:100717526-101128641", "ensembl_id": "ENSG00000151572" } } }, "hgnc_date_symbol_changed": "2008-08-28" }, "entity_type": "gene", "entity_name": "ANO4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38744284" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, ANO4-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "CRN", "CLF", "SYF3", "Clf1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15762", "gene_name": "crooked neck pre-mRNA splicing factor 1", "omim_gene": [ "610952" ], "alias_name": [ "SYF3 pre-mRNA-splicing factor" ], "gene_symbol": "CRNKL1", "hgnc_symbol": "CRNKL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:20015012-20036690", "ensembl_id": "ENSG00000101343" } }, "GRch38": { "90": { "location": "20:20034368-20056046", "ensembl_id": "ENSG00000101343" } } }, "hgnc_date_symbol_changed": "2001-05-31" }, "entity_type": "gene", "entity_name": "CRNKL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:19829", "gene_name": "family with sequence similarity 177 member A1", "omim_gene": null, "alias_name": null, "gene_symbol": "FAM177A1", "hgnc_symbol": "FAM177A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:35514113-35582336", "ensembl_id": "ENSG00000151327" } }, "GRch38": { "90": { "location": "14:35044907-35113130", "ensembl_id": "ENSG00000151327" } } }, "hgnc_date_symbol_changed": "2008-07-09" }, "entity_type": "gene", "entity_name": "FAM177A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38767059, 25558065" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with white matter abnormalities and gait disturbance, MIM# 621152" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "DKFZp761G2113" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25416", "gene_name": "ataxin 7 like 3", "omim_gene": null, "alias_name": null, "gene_symbol": "ATXN7L3", "hgnc_symbol": "ATXN7L3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42269173-42277481", "ensembl_id": "ENSG00000087152" } }, "GRch38": { "90": { "location": "17:44191805-44200113", "ensembl_id": "ENSG00000087152" } } }, "hgnc_date_symbol_changed": "2004-08-18" }, "entity_type": "gene", "entity_name": "ATXN7L3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38753057" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Harel-Tora neurodevelopmental syndrome, MIM# 621377" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:3766", "gene_name": "fms related tyrosine kinase 3 ligand", "omim_gene": [ "600007" ], "alias_name": null, "gene_symbol": "FLT3LG", "hgnc_symbol": "FLT3LG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:49977464-49989488", "ensembl_id": "ENSG00000090554" } }, "GRch38": { "90": { "location": "19:49474207-49486231", "ensembl_id": "ENSG00000090554" } } }, "hgnc_date_symbol_changed": "1994-07-21" }, "entity_type": "gene", "entity_name": "FLT3LG", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38701783" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Immunodeficiency 125, MIM# 620926" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:2582", "gene_name": "cylicin 1", "omim_gene": [ "300768" ], "alias_name": null, "gene_symbol": "CYLC1", "hgnc_symbol": "CYLC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:83116154-83141705", "ensembl_id": "ENSG00000183035" } }, "GRch38": { "90": { "location": "X:83861126-83886699", "ensembl_id": "ENSG00000183035" } } }, "hgnc_date_symbol_changed": "1998-03-20" }, "entity_type": "gene", "entity_name": "CYLC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure, X-linked, 8, MIM#\t301119" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "ZKSCAN16", "KIAA1962", "ZSCAN48" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23384", "gene_name": "zinc finger protein 483", "omim_gene": null, "alias_name": null, "gene_symbol": "ZNF483", "hgnc_symbol": "ZNF483", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:114287439-114340124", "ensembl_id": "ENSG00000173258" } }, "GRch38": { "90": { "location": "9:111525159-111577844", "ensembl_id": "ENSG00000173258" } } }, "hgnc_date_symbol_changed": "2003-11-14" }, "entity_type": "gene", "entity_name": "ZNF483", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38951643" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "primary ovarian failure MONDO:0005387" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "FUS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30252", "gene_name": "N-acetyltransferase 6", "omim_gene": [ "607073" ], "alias_name": null, "gene_symbol": "NAT6", "hgnc_symbol": "NAT6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:50333833-50336852", "ensembl_id": "ENSG00000243477" } }, "GRch38": { "90": { "location": "3:50296402-50299421", "ensembl_id": "ENSG00000243477" } } }, "hgnc_date_symbol_changed": "2004-05-12" }, "entity_type": "gene", "entity_name": "NAT6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34805998" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Auroneurodental syndrome, MIM# 620830" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:14568", "gene_name": "serine/threonine kinase 33", "omim_gene": [ "607670" ], "alias_name": null, "gene_symbol": "STK33", "hgnc_symbol": "STK33", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:8413418-8615836", "ensembl_id": "ENSG00000130413" } }, "GRch38": { "90": { "location": "11:8391868-8594289", "ensembl_id": "ENSG00000130413" } } }, "hgnc_date_symbol_changed": "2001-02-09" }, "entity_type": "gene", "entity_name": "STK33", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34155512", "29155043" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Spermatogenic failure 93, MIM#620849" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:6381", "gene_name": "kynurenine 3-monooxygenase", "omim_gene": [ "603538" ], "alias_name": [ "kynurenine 3-hydroxylase" ], "gene_symbol": "KMO", "hgnc_symbol": "KMO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:241695434-241758944", "ensembl_id": "ENSG00000117009" } }, "GRch38": { "90": { "location": "1:241532134-241595642", "ensembl_id": "ENSG00000117009" } } }, "hgnc_date_symbol_changed": "1998-12-18" }, "entity_type": "gene", "entity_name": "KMO", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28187857", "24189070" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "pellagra MONDO:0019975" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "LOC123688" ], "biotype": "protein_coding", "hgnc_id": "HGNC:34403", "gene_name": "hydroxylysine kinase", "omim_gene": [ "614681" ], "alias_name": [ "5-hydroxylysine kinase" ], "gene_symbol": "HYKK", "hgnc_symbol": "HYKK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:78799906-78829714", "ensembl_id": "ENSG00000188266" } }, "GRch38": { "90": { "location": "15:78507564-78537372", "ensembl_id": "ENSG00000188266" } } }, "hgnc_date_symbol_changed": "2013-06-11" }, "entity_type": "gene", "entity_name": "HYKK", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23242558" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "PAN2", "SDR7C4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19979", "gene_name": "retinol dehydrogenase 14 (all-trans/9-cis/11-cis)", "omim_gene": [ "616796" ], "alias_name": [ "short chain dehydrogenase/reductase family 7C, member 4" ], "gene_symbol": "RDH14", "hgnc_symbol": "RDH14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:18735989-18741946", "ensembl_id": "ENSG00000240857" } }, "GRch38": { "90": { "location": "2:18554723-18560680", "ensembl_id": "ENSG00000240857" } } }, "hgnc_date_symbol_changed": "2002-12-11" }, "entity_type": "gene", "entity_name": "RDH14", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34848785" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, RDH14-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "MYOZAP", "Gup", "Gup1", "GCOM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:43444", "gene_name": "myocardial zonula adherens protein", "omim_gene": [ "614071" ], "alias_name": [ "myocardium-enriched zonula adherens protein" ], "gene_symbol": "MYZAP", "hgnc_symbol": "MYZAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:57884139-57977562", "ensembl_id": "ENSG00000263155" } }, "GRch38": { "90": { "location": "15:57591941-57685364", "ensembl_id": "ENSG00000263155" } } }, "hgnc_date_symbol_changed": "2011-11-03" }, "entity_type": "gene", "entity_name": "MYZAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34899865", "35840178", "38436102", "20093627" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cardiomyopathy, dilated, 2K, MIM# 620894" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "hSP56", "hSBP", "LPSB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10719", "gene_name": "selenium binding protein 1", "omim_gene": [ "604188" ], "alias_name": null, "gene_symbol": "SELENBP1", "hgnc_symbol": "SELENBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:151336778-151345209", "ensembl_id": "ENSG00000143416" } }, "GRch38": { "90": { "location": "1:151364302-151372733", "ensembl_id": "ENSG00000143416" } } }, "hgnc_date_symbol_changed": "1999-01-15" }, "entity_type": "gene", "entity_name": "SELENBP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29255262" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [ "HSPOX1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17325", "gene_name": "proline dehydrogenase 2", "omim_gene": [ "616377" ], "alias_name": null, "gene_symbol": "PRODH2", "hgnc_symbol": "PRODH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36290890-36304201", "ensembl_id": "ENSG00000250799" } }, "GRch38": { "90": { "location": "19:35799988-35813299", "ensembl_id": "ENSG00000250799" } } }, "hgnc_date_symbol_changed": "2002-01-03" }, "entity_type": "gene", "entity_name": "PRODH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27139199" ], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "hydroxyprolinemia MONDO:0009374" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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:4167", "gene_name": "growth arrest specific 2", "omim_gene": [ "602835" ], "alias_name": null, "gene_symbol": "GAS2", "hgnc_symbol": "GAS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:22647188-22834601", "ensembl_id": "ENSG00000148935" } }, "GRch38": { "90": { "location": "11:22625642-22813055", "ensembl_id": "ENSG00000148935" } } }, "hgnc_date_symbol_changed": "1997-08-28" }, "entity_type": "gene", "entity_name": "GAS2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33964205" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Deafness, autosomal recessive 125, MIM#620877" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+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": [] } ] }