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GET /api/v1/entities/?format=api&page=155
{ "count": 36081, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=156", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=154", "results": [ { "gene_data": { "alias": [ "KIAA0717", "DBC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18756", "gene_name": "Rho related BTB domain containing 2", "omim_gene": [ "607352" ], "alias_name": null, "gene_symbol": "RHOBTB2", "hgnc_symbol": "RHOBTB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:22844930-22877712", "ensembl_id": "ENSG00000008853" } }, "GRch38": { "90": { "location": "8:22987417-23020199", "ensembl_id": "ENSG00000008853" } } }, "hgnc_date_symbol_changed": "2002-06-21" }, "entity_type": "gene", "entity_name": "RHOBTB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33504645" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 64\t618004", "Alternating hemiplegia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 40, "hash_id": null, "name": "Alternating Hemiplegia and Hemiplegic Migraine", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nPlease also refer to the Episodic Ataxia and Paroxysmal Dyskinesia panels.", "status": "public", "version": "1.0", "version_created": "2026-03-24T16:22:18.980474+11:00", "relevant_disorders": [ "Hemiplegia", "HP:0002301;Migraine", "HP:0002076" ], "stats": { "number_of_genes": 18, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1577" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29316", "gene_name": "zinc finger SWIM-type containing 6", "omim_gene": [ "615951" ], "alias_name": null, "gene_symbol": "ZSWIM6", "hgnc_symbol": "ZSWIM6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:60628100-60841997", "ensembl_id": "ENSG00000130449" } }, "GRch38": { "90": { "location": "5:61332273-61546170", "ensembl_id": "ENSG00000130449" } } }, "hgnc_date_symbol_changed": "2003-12-17" }, "entity_type": "gene", "entity_name": "ZSWIM6", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "29198722" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES", "NEDMAGA" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.249", "version_created": "2026-04-18T18:49:11.555064+10:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MP26", "LIM1", "AQP0" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7103", "gene_name": "major intrinsic protein of lens fiber", "omim_gene": [ "154050" ], "alias_name": null, "gene_symbol": "MIP", "hgnc_symbol": "MIP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:56843286-56862950", "ensembl_id": "ENSG00000135517" } }, "GRch38": { "90": { "location": "12:56449502-56469166", "ensembl_id": "ENSG00000135517" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MIP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10802646", "16564824", "33530927", "30214549" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cataract 15, multiple types, MIM# 615274" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ25461", "C9orf145", "C9orf143", "DKFZp686M16108", "TILRR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23399", "gene_name": "FRAS1 related extracellular matrix 1", "omim_gene": [ "608944" ], "alias_name": null, "gene_symbol": "FREM1", "hgnc_symbol": "FREM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:14734664-14910993", "ensembl_id": "ENSG00000164946" } }, "GRch38": { "90": { "location": "9:14734666-14910995", "ensembl_id": "ENSG00000164946" } } }, "hgnc_date_symbol_changed": "2004-12-15" }, "entity_type": "gene", "entity_name": "FREM1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32016392" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Congenital diaphragmatic hernia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 69, "hash_id": null, "name": "Congenital diaphragmatic hernia", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with syndromic and non-syndromic congenital diaphragmatic hernia.\r\n\r\nNote pathogenic variants in a broad range of genes have been ascertained in CDH cohorts (e.g. PMID 33461977), so a broader testing approach is recommended particularly in the perinatal period.", "status": "public", "version": "1.18", "version_created": "2025-11-21T16:59:26.431729+11:00", "relevant_disorders": [ "Congenital diaphragmatic hernia HP:0000776" ], "stats": { "number_of_genes": 49, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RTS", "CBP", "KAT3A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2348", "gene_name": "CREB binding protein", "omim_gene": [ "600140" ], "alias_name": null, "gene_symbol": "CREBBP", "hgnc_symbol": "CREBBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:3775055-3930727", "ensembl_id": "ENSG00000005339" } }, "GRch38": { "90": { "location": "16:3725054-3880726", "ensembl_id": "ENSG00000005339" } } }, "hgnc_date_symbol_changed": "1995-01-10" }, "entity_type": "gene", "entity_name": "CREBBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Rubinstein-Taybi syndrome 1, MIM# 180849" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 105, "hash_id": null, "name": "Glaucoma congenital", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Glaucoma (developmental)' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England, 7/8/2020.", "status": "public", "version": "1.12", "version_created": "2026-04-07T13:50:17.268940+10:00", "relevant_disorders": [ "Glaucoma", "HP:0000501" ], "stats": { "number_of_genes": 28, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NAK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11584", "gene_name": "TANK binding kinase 1", "omim_gene": [ "604834" ], "alias_name": null, "gene_symbol": "TBK1", "hgnc_symbol": "TBK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:64845660-64895888", "ensembl_id": "ENSG00000183735" } }, "GRch38": { "90": { "location": "12:64451880-64502108", "ensembl_id": "ENSG00000183735" } } }, "hgnc_date_symbol_changed": "2000-06-08" }, "entity_type": "gene", "entity_name": "TBK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25803835", "26581300", "31000212", "25943890" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (MIM#616439), AD" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 126, "hash_id": null, "name": "Incidentalome", "disease_group": "", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).", "status": "public", "version": "0.433", "version_created": "2026-03-25T17:03:27.624542+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 161, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC12435", "1700010H15RiK", "CILD16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23247", "gene_name": "dynein axonemal light chain 1", "omim_gene": [ "610062" ], "alias_name": null, "gene_symbol": "DNAL1", "hgnc_symbol": "DNAL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:74111578-74170435", "ensembl_id": "ENSG00000119661" } }, "GRch38": { "90": { "location": "14:73644875-73703732", "ensembl_id": "ENSG00000119661" } } }, "hgnc_date_symbol_changed": "2006-09-04" }, "entity_type": "gene", "entity_name": "DNAL1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21496787" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 16, MIM# 614017" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ELKS", "KIAA1081", "CAST2", "MGC12974" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17072", "gene_name": "ELKS/RAB6-interacting/CAST family member 1", "omim_gene": [ "607127" ], "alias_name": null, "gene_symbol": "ERC1", "hgnc_symbol": "ERC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:1099675-1605099", "ensembl_id": "ENSG00000082805" } }, "GRch38": { "90": { "location": "12:990509-1495933", "ensembl_id": "ENSG00000082805" } } }, "hgnc_date_symbol_changed": "2006-08-14" }, "entity_type": "gene", "entity_name": "ERC1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GLOD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16732", "gene_name": "methylmalonyl-CoA epimerase", "omim_gene": [ "608419" ], "alias_name": [ "glyoxalase domain containing 2" ], "gene_symbol": "MCEE", "hgnc_symbol": "MCEE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:71336814-71357369", "ensembl_id": "ENSG00000124370" } }, "GRch38": { "90": { "location": "2:71109684-71130239", "ensembl_id": "ENSG00000124370" } } }, "hgnc_date_symbol_changed": "2001-10-03" }, "entity_type": "gene", "entity_name": "MCEE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27604308", "16752391", "32521958", "31146325", "32719376", "30682498" ], "evidence": [ "Expert Review Green", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Methylmalonyl-CoA epimerase deficiency MIM#251120", "Organic acidurias" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12559", "gene_name": "uromodulin", "omim_gene": [ "191845" ], "alias_name": [ "Tamm-Horsfall glycoprotein", "uromucoid" ], "gene_symbol": "UMOD", "hgnc_symbol": "UMOD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:20344374-20367623", "ensembl_id": "ENSG00000169344" } }, "GRch38": { "90": { "location": "16:20333052-20356301", "ensembl_id": "ENSG00000169344" } } }, "hgnc_date_symbol_changed": "1992-07-27" }, "entity_type": "gene", "entity_name": "UMOD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886", "Hyperuricemic nephropathy, familial juvenile 1 162000", "Medullary cystic kidney disease 2 603860" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10914", "gene_name": "solute carrier family 12 member 6", "omim_gene": [ "604878" ], "alias_name": null, "gene_symbol": "SLC12A6", "hgnc_symbol": "SLC12A6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:34525460-34630261", "ensembl_id": "ENSG00000140199" } }, "GRch38": { "90": { "location": "15:34229996-34338060", "ensembl_id": "ENSG00000140199" } } }, "hgnc_date_symbol_changed": "1999-05-25" }, "entity_type": "gene", "entity_name": "SLC12A6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31439721" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Andermann syndrome", "Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000", "Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:166", "gene_name": "actinin alpha 4", "omim_gene": [ "604638" ], "alias_name": null, "gene_symbol": "ACTN4", "hgnc_symbol": "ACTN4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:39138289-39222223", "ensembl_id": "ENSG00000130402" } }, "GRch38": { "90": { "location": "19:38647649-38731583", "ensembl_id": "ENSG00000130402" } } }, "hgnc_date_symbol_changed": "1992-03-26" }, "entity_type": "gene", "entity_name": "ACTN4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "26740551", "22351778", "10700177", "26301083" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glomerulosclerosis, focal segmental, 1, MIM#603278" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:362", "gene_name": "adenylate kinase 2", "omim_gene": [ "103020" ], "alias_name": null, "gene_symbol": "AK2", "hgnc_symbol": "AK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:33473585-33546597", "ensembl_id": "ENSG00000004455" } }, "GRch38": { "90": { "location": "1:33007940-33080996", "ensembl_id": "ENSG00000004455" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "AK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19043416", "19043417" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Reticular dysgenesis, MIM# 267500", "MONDO:0009973" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0328" ], "biotype": "protein_coding", "hgnc_id": "HGNC:428", "gene_name": "ALMS1, centrosome and basal body associated protein", "omim_gene": [ "606844" ], "alias_name": null, "gene_symbol": "ALMS1", "hgnc_symbol": "ALMS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:73612886-73837920", "ensembl_id": "ENSG00000116127" } }, "GRch38": { "90": { "location": "2:73385758-73610793", "ensembl_id": "ENSG00000116127" } } }, "hgnc_date_symbol_changed": "1998-10-12" }, "entity_type": "gene", "entity_name": "ALMS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PMID: 17594715" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Alstrom syndrome MIM#203800" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2041", "gene_name": "claudin 2", "omim_gene": [ "300520" ], "alias_name": null, "gene_symbol": "CLDN2", "hgnc_symbol": "CLDN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:106143394-106174091", "ensembl_id": "ENSG00000165376" } }, "GRch38": { "90": { "location": "X:106900164-106930861", "ensembl_id": "ENSG00000165376" } } }, "hgnc_date_symbol_changed": "1998-11-19" }, "entity_type": "gene", "entity_name": "CLDN2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29884332", "31163246", "31320686" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Susceptibility to pancreatitis", "Azoospermia, obstructive, with nephrolithiasis, MIM#\t301060" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARTEMIS", "FLJ11360", "SNM1C", "A-SCID" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17642", "gene_name": "DNA cross-link repair 1C", "omim_gene": [ "605988" ], "alias_name": [ "PSO2 homolog (S. cerevisiae)" ], "gene_symbol": "DCLRE1C", "hgnc_symbol": "DCLRE1C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:14939358-14996431", "ensembl_id": "ENSG00000152457" } }, "GRch38": { "90": { "location": "10:14897359-14954432", "ensembl_id": "ENSG00000152457" } } }, "hgnc_date_symbol_changed": "2002-01-18" }, "entity_type": "gene", "entity_name": "DCLRE1C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179" ], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SH3P17", "MGC134948", "MGC134949" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6183", "gene_name": "intersectin 1", "omim_gene": [ "602442" ], "alias_name": [ "SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12" ], "gene_symbol": "ITSN1", "hgnc_symbol": "ITSN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:35014706-35272165", "ensembl_id": "ENSG00000205726" } }, "GRch38": { "90": { "location": "21:33642400-33899861", "ensembl_id": "ENSG00000205726" } } }, "hgnc_date_symbol_changed": "1997-04-25" }, "entity_type": "gene", "entity_name": "ITSN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29773874" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Nephrotic syndrome", "Neurodevelopmental disorder MONDO:0700092, ITSN1-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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [ "Steroid-resistant nephrotic syndrome" ] }, { "gene_data": { "alias": [ "SDR-O", "RDHS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29958", "gene_name": "short chain dehydrogenase/reductase family 9C member 7", "omim_gene": [ "609769" ], "alias_name": null, "gene_symbol": "SDR9C7", "hgnc_symbol": "SDR9C7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:57316938-57328189", "ensembl_id": "ENSG00000170426" } }, "GRch38": { "90": { "location": "12:56923154-56934405", "ensembl_id": "ENSG00000170426" } } }, "hgnc_date_symbol_changed": "2008-12-22" }, "entity_type": "gene", "entity_name": "SDR9C7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28173123", "28369735" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Ichthyosis, congenital, autosomal recessive 13 MIM#617574" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSPC015", "HINT-5", "HSL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29812", "gene_name": "decapping enzyme, scavenger", "omim_gene": [ "610534" ], "alias_name": [ "5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase" ], "gene_symbol": "DCPS", "hgnc_symbol": "DCPS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:126173647-126215644", "ensembl_id": "ENSG00000110063" } }, "GRch38": { "90": { "location": "11:126303752-126345749", "ensembl_id": "ENSG00000110063" } } }, "hgnc_date_symbol_changed": "2005-01-07" }, "entity_type": "gene", "entity_name": "DCPS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25701870", "30289615", "25712129" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Al-Raqad syndrome, MIM#616459" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7506", "gene_name": "metaxin 2", "omim_gene": [ "608555" ], "alias_name": null, "gene_symbol": "MTX2", "hgnc_symbol": "MTX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:177134123-177202753", "ensembl_id": "ENSG00000128654" } }, "GRch38": { "90": { "location": "2:176269395-176338025", "ensembl_id": "ENSG00000128654" } } }, "hgnc_date_symbol_changed": "1999-07-14" }, "entity_type": "gene", "entity_name": "MTX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32917887" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mandibuloacral dysplasia progeroid syndrome, MIM# 619127", "Mandibuloacral dysplasia", "lipodystrophy", "arterial calcification" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "S20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10405", "gene_name": "ribosomal protein S20", "omim_gene": [ "603682" ], "alias_name": null, "gene_symbol": "RPS20", "hgnc_symbol": "RPS20", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:56979854-56987069", "ensembl_id": "ENSG00000008988" } }, "GRch38": { "90": { "location": "8:56067295-56074581", "ensembl_id": "ENSG00000008988" } } }, "hgnc_date_symbol_changed": "1998-08-18" }, "entity_type": "gene", "entity_name": "RPS20", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "32790018" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Diamond Blackfan anaemia" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp781M2411", "RalGAPbeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29221", "gene_name": "Ral GTPase activating protein non-catalytic beta subunit", "omim_gene": null, "alias_name": null, "gene_symbol": "RALGAPB", "hgnc_symbol": "RALGAPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:37101459-37207504", "ensembl_id": "ENSG00000170471" } }, "GRch38": { "90": { "location": "20:38472816-38578861", "ensembl_id": "ENSG00000170471" } } }, "hgnc_date_symbol_changed": "2009-09-09" }, "entity_type": "gene", "entity_name": "RALGAPB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32853829" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorders, autism" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HEX1", "hExoI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3511", "gene_name": "exonuclease 1", "omim_gene": [ "606063" ], "alias_name": [ "rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1" ], "gene_symbol": "EXO1", "hgnc_symbol": "EXO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:242011269-242058450", "ensembl_id": "ENSG00000174371" } }, "GRch38": { "90": { "location": "1:241847967-241895148", "ensembl_id": "ENSG00000174371" } } }, "hgnc_date_symbol_changed": "1999-07-07" }, "entity_type": "gene", "entity_name": "EXO1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39595984", "32772095", "36385415" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Primary ovarian failure, MONDO:0005387, EXO1-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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "LAG1", "UOG1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14253", "gene_name": "ceramide synthase 1", "omim_gene": [ "606919" ], "alias_name": null, "gene_symbol": "CERS1", "hgnc_symbol": "CERS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:18979361-19007536", "ensembl_id": "ENSG00000223802" } }, "GRch38": { "90": { "location": "19:18868545-18896727", "ensembl_id": "ENSG00000223802" } } }, "hgnc_date_symbol_changed": "2011-07-08" }, "entity_type": "gene", "entity_name": "CERS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24782409", "21625621", "30800706" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epilepsy, progressive myoclonic, 8, MONDO:0020074" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PM-Scl", "PM/Scl-100", "Rrp6p", "RRP6", "p2", "p3", "p4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9138", "gene_name": "exosome component 10", "omim_gene": [ "605960" ], "alias_name": [ "polymyositis/scleroderma autoantigen 2 (100kD)" ], "gene_symbol": "EXOSC10", "hgnc_symbol": "EXOSC10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:11126675-11159938", "ensembl_id": "ENSG00000171824" } }, "GRch38": { "90": { "location": "1:11066618-11099881", "ensembl_id": "ENSG00000171824" } } }, "hgnc_date_symbol_changed": "2004-06-18" }, "entity_type": "gene", "entity_name": "EXOSC10", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41132091" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Microcephaly, MONDO:0001149, EXOSC10-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GMAP", "GAL-GMAP", "GLNN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4114", "gene_name": "galanin and GMAP prepropeptide", "omim_gene": [ "137035" ], "alias_name": [ "galanin-message-associated peptide" ], "gene_symbol": "GAL", "hgnc_symbol": "GAL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:68451247-68458643", "ensembl_id": "ENSG00000069482" } }, "GRch38": { "90": { "location": "11:68683779-68691175", "ensembl_id": "ENSG00000069482" } } }, "hgnc_date_symbol_changed": "1993-06-22" }, "entity_type": "gene", "entity_name": "GAL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25691535" ], "evidence": [ "Literature" ], "phenotypes": [ "familial temporal lobe epilepsy 8 MONDO:0014650" ], "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": "1.4802", "version_created": "2026-04-27T16:20:55.947687+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 9 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "STL2", "CO11A1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2186", "gene_name": "collagen type XI alpha 1 chain", "omim_gene": [ "120280" ], "alias_name": [ "collagen XI, alpha-1 polypeptide" ], "gene_symbol": "COL11A1", "hgnc_symbol": "COL11A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:103342023-103574052", "ensembl_id": "ENSG00000060718" } }, "GRch38": { "90": { "location": "1:102876467-103108496", "ensembl_id": "ENSG00000060718" } } }, "hgnc_date_symbol_changed": "1989-05-08" }, "entity_type": "gene", "entity_name": "COL11A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 160, "hash_id": null, "name": "Pierre Robin Sequence", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.64", "version_created": "2026-04-12T14:13:00.975329+10:00", "relevant_disorders": [ "Pierre Robin sequence", "HP:0000201" ], "stats": { "number_of_genes": 55, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1577" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29316", "gene_name": "zinc finger SWIM-type containing 6", "omim_gene": [ "615951" ], "alias_name": null, "gene_symbol": "ZSWIM6", "hgnc_symbol": "ZSWIM6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:60628100-60841997", "ensembl_id": "ENSG00000130449" } }, "GRch38": { "90": { "location": "5:61332273-61546170", "ensembl_id": "ENSG00000130449" } } }, "hgnc_date_symbol_changed": "2003-12-17" }, "entity_type": "gene", "entity_name": "ZSWIM6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 160, "hash_id": null, "name": "Pierre Robin Sequence", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.64", "version_created": "2026-04-12T14:13:00.975329+10:00", "relevant_disorders": [ "Pierre Robin sequence", "HP:0000201" ], "stats": { "number_of_genes": 55, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HGPRT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5157", "gene_name": "hypoxanthine phosphoribosyltransferase 1", "omim_gene": [ "308000" ], "alias_name": [ "Lesch-Nyhan syndrome" ], "gene_symbol": "HPRT1", "hgnc_symbol": "HPRT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:133594183-133654543", "ensembl_id": "ENSG00000165704" } }, "GRch38": { "90": { "location": "X:134460153-134520513", "ensembl_id": "ENSG00000165704" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HPRT1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27858372" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Lesch-Nyhan syndrome" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MOCOD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7190", "gene_name": "molybdenum cofactor synthesis 1", "omim_gene": [ "603707" ], "alias_name": null, "gene_symbol": "MOCS1", "hgnc_symbol": "MOCS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:39867354-39902290", "ensembl_id": "ENSG00000124615" } }, "GRch38": { "90": { "location": "6:39899578-39934551", "ensembl_id": "ENSG00000124615" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "MOCS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9921896", "12754701", "21031595" ], "evidence": [ "NHS GMS", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Molybdenum cofactor deficiency A, MIM# 252150" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SAC3", "hSac3", "dJ249I4.1", "ALS11", "CMT4J" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16873", "gene_name": "FIG4 phosphoinositide 5-phosphatase", "omim_gene": [ "609390" ], "alias_name": null, "gene_symbol": "FIG4", "hgnc_symbol": "FIG4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:110012499-110146631", "ensembl_id": "ENSG00000112367" } }, "GRch38": { "90": { "location": "6:109691312-109825428", "ensembl_id": "ENSG00000112367" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "FIG4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24598713" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Polymicrogyria, bilateral temporooccipital, MIM#612691" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9577", "gene_name": "phosphoserine phosphatase", "omim_gene": [ "172480" ], "alias_name": null, "gene_symbol": "PSPH", "hgnc_symbol": "PSPH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:56078744-56119297", "ensembl_id": "ENSG00000146733" } }, "GRch38": { "90": { "location": "7:56011051-56051604", "ensembl_id": "ENSG00000146733" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PSPH", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25080166", "26589312", "14673469" ], "evidence": [ "NHS GMS", "Expert Review Amber", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Phosphoserine phosphatase deficiency, MIM#614023" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CHED", "CDC2L", "KIAA1791" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1733", "gene_name": "cyclin dependent kinase 13", "omim_gene": [ "603309" ], "alias_name": [ "cholinesterase-related cell division controller" ], "gene_symbol": "CDK13", "hgnc_symbol": "CDK13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:39989636-40136733", "ensembl_id": "ENSG00000065883" } }, "GRch38": { "90": { "location": "7:39950037-40097134", "ensembl_id": "ENSG00000065883" } } }, "hgnc_date_symbol_changed": "2009-12-16" }, "entity_type": "gene", "entity_name": "CDK13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 29021403, PMID: 35063350" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MIM#617360" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4376", "gene_name": "guanosine monophosphate reductase", "omim_gene": [ "139265" ], "alias_name": [ "GMP reductase 1" ], "gene_symbol": "GMPR", "hgnc_symbol": "GMPR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:16238811-16295780", "ensembl_id": "ENSG00000137198" } }, "GRch38": { "90": { "location": "6:16238580-16295549", "ensembl_id": "ENSG00000137198" } } }, "hgnc_date_symbol_changed": "1990-11-09" }, "entity_type": "gene", "entity_name": "GMPR", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31600844" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "progressive external ophthalmoplegia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FATP3", "MGC4365", "ACSVL3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10997", "gene_name": "solute carrier family 27 member 3", "omim_gene": [ "604193" ], "alias_name": null, "gene_symbol": "SLC27A3", "hgnc_symbol": "SLC27A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:153746830-153752633", "ensembl_id": "ENSG00000143554" } }, "GRch38": { "90": { "location": "1:153774354-153780157", "ensembl_id": "ENSG00000143554" } } }, "hgnc_date_symbol_changed": "1999-08-20" }, "entity_type": "gene", "entity_name": "SLC27A3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 41054338" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hEPG5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29331", "gene_name": "ectopic P-granules autophagy protein 5 homolog", "omim_gene": [ "615068" ], "alias_name": null, "gene_symbol": "EPG5", "hgnc_symbol": "EPG5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:43427574-43547240", "ensembl_id": "ENSG00000152223" } }, "GRch38": { "90": { "location": "18:45847609-45967274", "ensembl_id": "ENSG00000152223" } } }, "hgnc_date_symbol_changed": "2011-03-02" }, "entity_type": "gene", "entity_name": "EPG5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23222957", "26917586" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Vici syndrome, MIM# 242840" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 223, "hash_id": null, "name": "Combined Immunodeficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.", "status": "public", "version": "1.145", "version_created": "2026-03-02T21:55:19.238904+11:00", "relevant_disorders": [ "Combined immunodeficiency", "MONDO:0015131; Combined immunodeficiency", "HP:0005387" ], "stats": { "number_of_genes": 170, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DENN", "KIAA0358", "RAB3GEP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6766", "gene_name": "MAP kinase activating death domain", "omim_gene": [ "603584" ], "alias_name": null, "gene_symbol": "MADD", "hgnc_symbol": "MADD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47290712-47351582", "ensembl_id": "ENSG00000110514" } }, "GRch38": { "90": { "location": "11:47269161-47330031", "ensembl_id": "ENSG00000110514" } } }, "hgnc_date_symbol_changed": "1999-12-17" }, "entity_type": "gene", "entity_name": "MADD", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36206192" ], "evidence": [ "Expert Review Amber", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "HLH, enteropathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 229, "hash_id": null, "name": "Disorders of immune dysregulation", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.43", "version_created": "2026-04-06T13:01:39.255117+10:00", "relevant_disorders": [ "Immune dysregulation", "HP:0002958" ], "stats": { "number_of_genes": 118, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0356" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29017", "gene_name": "pleckstrin homology and RUN domain containing M1", "omim_gene": [ "611466" ], "alias_name": null, "gene_symbol": "PLEKHM1", "hgnc_symbol": "PLEKHM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:43513266-43568115", "ensembl_id": "ENSG00000225190" } }, "GRch38": { "90": { "location": "17:45435900-45490749", "ensembl_id": "ENSG00000225190" } } }, "hgnc_date_symbol_changed": "2004-02-27" }, "entity_type": "gene", "entity_name": "PLEKHM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17404618", "32048120" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Osteopetrosis, autosomal recessive 6 MIM#611497" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 231, "hash_id": null, "name": "Defects of intrinsic and innate immunity", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.39", "version_created": "2026-04-15T16:26:05.053680+10:00", "relevant_disorders": [ "Unusual infections", "HP:0032101" ], "stats": { "number_of_genes": 86, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SRA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11204", "gene_name": "SRY-box 9", "omim_gene": [ "608160" ], "alias_name": null, "gene_symbol": "SOX9", "hgnc_symbol": "SOX9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:70117161-70122561", "ensembl_id": "ENSG00000125398" } }, "GRch38": { "90": { "location": "17:72121020-72126420", "ensembl_id": "ENSG00000125398" } } }, "hgnc_date_symbol_changed": "1992-09-25" }, "entity_type": "gene", "entity_name": "SOX9", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301724", "26663529", "21373255" ], "evidence": [ "Expert Review Amber", "Genetic Health Queensland" ], "phenotypes": [ "campomelic dysplasia MONDO:0007251" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "semF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10736", "gene_name": "semaphorin 5A", "omim_gene": [ "609297" ], "alias_name": null, "gene_symbol": "SEMA5A", "hgnc_symbol": "SEMA5A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:9035138-9546187", "ensembl_id": "ENSG00000112902" } }, "GRch38": { "90": { "location": "5:9035026-9546075", "ensembl_id": "ENSG00000112902" } } }, "hgnc_date_symbol_changed": "1999-06-25" }, "entity_type": "gene", "entity_name": "SEMA5A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 26395558" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "no OMIM number yet" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ASXH2", "FLJ10898", "KIAA1685" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23805", "gene_name": "additional sex combs like 2, transcriptional regulator", "omim_gene": [ "612991" ], "alias_name": null, "gene_symbol": "ASXL2", "hgnc_symbol": "ASXL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:25956622-26101385", "ensembl_id": "ENSG00000143970" } }, "GRch38": { "90": { "location": "2:25733753-25878516", "ensembl_id": "ENSG00000143970" } } }, "hgnc_date_symbol_changed": "2003-12-11" }, "entity_type": "gene", "entity_name": "ASXL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27693232", "33751773" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Shashi-Pena syndrome, MIM# 617190" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ16123", "SIZN", "SIZN1", "PNMA7A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27273", "gene_name": "zinc finger CCHC-type containing 12", "omim_gene": [ "300701" ], "alias_name": [ "paraneoplastic Ma antigen family member 7A" ], "gene_symbol": "ZCCHC12", "hgnc_symbol": "ZCCHC12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:117957753-117960931", "ensembl_id": "ENSG00000174460" } }, "GRch38": { "90": { "location": "X:118823790-118826968", "ensembl_id": "ENSG00000174460" } } }, "hgnc_date_symbol_changed": "2004-07-14" }, "entity_type": "gene", "entity_name": "ZCCHC12", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HGPS", "MADA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6636", "gene_name": "lamin A/C", "omim_gene": [ "150330" ], "alias_name": [ "mandibuloacral dysplasia type A" ], "gene_symbol": "LMNA", "hgnc_symbol": "LMNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156052364-156109880", "ensembl_id": "ENSG00000160789" } }, "GRch38": { "90": { "location": "1:156082573-156140089", "ensembl_id": "ENSG00000160789" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "LMNA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1744", "gene_name": "cell division cycle 6", "omim_gene": [ "602627" ], "alias_name": null, "gene_symbol": "CDC6", "hgnc_symbol": "CDC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:38443885-38459171", "ensembl_id": "ENSG00000094804" } }, "GRch38": { "90": { "location": "17:40287633-40304657", "ensembl_id": "ENSG00000094804" } } }, "hgnc_date_symbol_changed": "1999-08-06" }, "entity_type": "gene", "entity_name": "CDC6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Illumina TruGenome Clinical Sequencing Services", "Expert Review Red", "UKGTN", "Radboud University Medical Center, Nijmegen", "Expert list" ], "phenotypes": [ "Meier-Gorlin syndrome 5\t613805" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "VAMP-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12642", "gene_name": "vesicle associated membrane protein 1", "omim_gene": [ "185880" ], "alias_name": null, "gene_symbol": "VAMP1", "hgnc_symbol": "VAMP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6571403-6580153", "ensembl_id": "ENSG00000139190" } }, "GRch38": { "90": { "location": "12:6462237-6470987", "ensembl_id": "ENSG00000139190" } } }, "hgnc_date_symbol_changed": "1990-03-14" }, "entity_type": "gene", "entity_name": "VAMP1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22958904" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Amber", "Expert Review Amber" ], "phenotypes": [ "Autosomal dominant spastic ataxia 1, 108600", "Spastic ataxia 1, autosomal dominant, 108600" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "founder" ], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CRD", "LCA7", "OTX3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2383", "gene_name": "cone-rod homeobox", "omim_gene": [ "602225" ], "alias_name": [ "orthodenticle homeobox 3" ], "gene_symbol": "CRX", "hgnc_symbol": "CRX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:48322703-48346587", "ensembl_id": "ENSG00000105392" } }, "GRch38": { "90": { "location": "19:47819779-47843330", "ensembl_id": "ENSG00000105392" } } }, "hgnc_date_symbol_changed": "1998-03-25" }, "entity_type": "gene", "entity_name": "CRX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Cone-rod retinal dystrophy-2, 120970", "Leber congenital amaurosis 7, 613829" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav3.1", "NBR13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1394", "gene_name": "calcium voltage-gated channel subunit alpha1 G", "omim_gene": [ "604065" ], "alias_name": null, "gene_symbol": "CACNA1G", "hgnc_symbol": "CACNA1G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48638429-48704835", "ensembl_id": "ENSG00000006283" } }, "GRch38": { "90": { "location": "17:50561068-50627474", "ensembl_id": "ENSG00000006283" } } }, "hgnc_date_symbol_changed": "1999-01-08" }, "entity_type": "gene", "entity_name": "CACNA1G", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29878067" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#\t618087" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.344", "version_created": "2026-04-06T11:07:45.734922+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC2562", "APOP-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20492", "gene_name": "apoptogenic 1, mitochondrial", "omim_gene": [ "616003" ], "alias_name": [ "apoptogenic protein 1" ], "gene_symbol": "APOPT1", "hgnc_symbol": "APOPT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:104029299-104073860", "ensembl_id": "ENSG00000256053" } }, "GRch38": { "90": { "location": "14:103562962-103607523", "ensembl_id": "ENSG00000256053" } } }, "hgnc_date_symbol_changed": "2011-09-07" }, "entity_type": "gene", "entity_name": "APOPT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25175347" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mitochondrial complex IV deficiency, MIM# 220110" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC22916" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21701", "gene_name": "BRCA1 associated ATM activator 1", "omim_gene": [ "614506" ], "alias_name": [ "BRCA1-associated protein required for ATM activation protein 1" ], "gene_symbol": "BRAT1", "hgnc_symbol": "BRAT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:2577511-2595361", "ensembl_id": "ENSG00000106009" } }, "GRch38": { "90": { "location": "7:2537877-2555727", "ensembl_id": "ENSG00000106009" } } }, "hgnc_date_symbol_changed": "2011-03-22" }, "entity_type": "gene", "entity_name": "BRAT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Rigidity and multifocal seizure syndrome, lethal neonatal 614498" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 331, "hash_id": null, "name": "Progressive Myoclonic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.", "status": "public", "version": "0.28", "version_created": "2025-11-21T09:34:57.163082+11:00", "relevant_disorders": [ "Myoclonic seizure", "HP:0032794" ], "stats": { "number_of_genes": 33, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BPIFF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1869", "gene_name": "cholesteryl ester transfer protein", "omim_gene": [ "118470" ], "alias_name": [ "BPI fold containing family F" ], "gene_symbol": "CETP", "hgnc_symbol": "CETP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:56995762-57017757", "ensembl_id": "ENSG00000087237" } }, "GRch38": { "90": { "location": "16:56961850-56983845", "ensembl_id": "ENSG00000087237" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "CETP", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "12070157", "2586614", "27604308", "2215607", "2390095" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Hyperalphalipoproteinemia MIM#143470", "Disorders of high density lipoprotein metabolism" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 332, "hash_id": null, "name": "Dyslipidaemia", "disease_group": "Endocrine disorders; Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes that cause dyslipidaemia, abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids). It contains all the genes that cause hyperlipidaemias. It was developed for use by the Royal Melbourne Hospital endocrine genetics clinic.", "status": "public", "version": "0.51", "version_created": "2026-04-03T15:42:30.681985+11:00", "relevant_disorders": [ "Abnormal circulating lipid concentration", "HP:0003119" ], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SAC3", "hSac3", "dJ249I4.1", "ALS11", "CMT4J" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16873", "gene_name": "FIG4 phosphoinositide 5-phosphatase", "omim_gene": [ "609390" ], "alias_name": null, "gene_symbol": "FIG4", "hgnc_symbol": "FIG4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:110012499-110146631", "ensembl_id": "ENSG00000112367" } }, "GRch38": { "90": { "location": "6:109691312-109825428", "ensembl_id": "ENSG00000112367" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "FIG4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17572665", "21705420", "24878229" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Charcot-Marie-Tooth disease, type 4J, MIM# 611228", "MONDO:0012640", "HMSN" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hCG_1745121", "IspD", "Nip" ], "biotype": "protein_coding", "hgnc_id": "HGNC:37276", "gene_name": "isoprenoid synthase domain containing", "omim_gene": [ "614631" ], "alias_name": [ "notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)" ], "gene_symbol": "ISPD", "hgnc_symbol": "ISPD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:16130817-16460947", "ensembl_id": "ENSG00000214960" } }, "GRch38": { "90": { "location": "7:16087527-16421322", "ensembl_id": "ENSG00000214960" } } }, "hgnc_date_symbol_changed": "2009-10-02" }, "entity_type": "gene", "entity_name": "ISPD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23390185", "30060766", "28688748", "26404900" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CAGH45", "HOPA", "OPA1", "TRAP230", "KIAA0192", "OKS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11957", "gene_name": "mediator complex subunit 12", "omim_gene": [ "300188" ], "alias_name": null, "gene_symbol": "MED12", "hgnc_symbol": "MED12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:70338406-70362303", "ensembl_id": "ENSG00000184634" } }, "GRch38": { "90": { "location": "X:71118556-71142454", "ensembl_id": "ENSG00000184634" } } }, "hgnc_date_symbol_changed": "2004-11-26" }, "entity_type": "gene", "entity_name": "MED12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lujan-Fryns syndrome, 309520 (3)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:967", "gene_name": "Bardet-Biedl syndrome 2", "omim_gene": [ "606151" ], "alias_name": null, "gene_symbol": "BBS2", "hgnc_symbol": "BBS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:56500748-56554195", "ensembl_id": "ENSG00000125124" } }, "GRch38": { "90": { "location": "16:56466836-56520283", "ensembl_id": "ENSG00000125124" } } }, "hgnc_date_symbol_changed": "1993-10-26" }, "entity_type": "gene", "entity_name": "BBS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bardet-Biedl syndrome 2, 615981 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2678", "gene_name": "aspartyl-tRNA synthetase", "omim_gene": [ "603084" ], "alias_name": [ "aspartate tRNA ligase 1, cytoplasmic" ], "gene_symbol": "DARS", "hgnc_symbol": "DARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:136664247-136743670", "ensembl_id": "ENSG00000115866" } }, "GRch38": { "90": { "location": "2:135906677-135986100", "ensembl_id": "ENSG00000115866" } } }, "hgnc_date_symbol_changed": "1998-04-22" }, "entity_type": "gene", "entity_name": "DARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JAM-C", "JAMC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15532", "gene_name": "junctional adhesion molecule 3", "omim_gene": [ "606871" ], "alias_name": null, "gene_symbol": "JAM3", "hgnc_symbol": "JAM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:133938820-134021896", "ensembl_id": "ENSG00000166086" } }, "GRch38": { "90": { "location": "11:134068925-134152001", "ensembl_id": "ENSG00000166086" } } }, "hgnc_date_symbol_changed": "2001-04-26" }, "entity_type": "gene", "entity_name": "JAM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10716", "CLLD7", "CLLL7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18243", "gene_name": "RCC1 and BTB domain containing protein 1", "omim_gene": [ "607867" ], "alias_name": null, "gene_symbol": "RCBTB1", "hgnc_symbol": "RCBTB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:50106082-50159719", "ensembl_id": "ENSG00000136144" } }, "GRch38": { "90": { "location": "13:49531946-49585583", "ensembl_id": "ENSG00000136144" } } }, "hgnc_date_symbol_changed": "2003-05-02" }, "entity_type": "gene", "entity_name": "RCBTB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AT-1", "AT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:95", "gene_name": "solute carrier family 33 member 1", "omim_gene": [ "603690" ], "alias_name": null, "gene_symbol": "SLC33A1", "hgnc_symbol": "SLC33A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:155538813-155572218", "ensembl_id": "ENSG00000169359" } }, "GRch38": { "90": { "location": "3:155821024-155854429", "ensembl_id": "ENSG00000169359" } } }, "hgnc_date_symbol_changed": "2002-12-06" }, "entity_type": "gene", "entity_name": "SLC33A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OCAIA", "OCA1A", "OCA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12442", "gene_name": "tyrosinase", "omim_gene": [ "606933" ], "alias_name": [ "oculocutaneous albinism IA" ], "gene_symbol": "TYR", "hgnc_symbol": "TYR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:88910620-89028927", "ensembl_id": "ENSG00000077498" } }, "GRch38": { "90": { "location": "11:89177452-89295759", "ensembl_id": "ENSG00000077498" } } }, "hgnc_date_symbol_changed": "1988-08-16" }, "entity_type": "gene", "entity_name": "TYR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Albinism, oculocutaneous, type IA, 203100 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9251", "gene_name": "cathepsin A", "omim_gene": [ "613111" ], "alias_name": [ "carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase" ], "gene_symbol": "CTSA", "hgnc_symbol": "CTSA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:44518783-44527459", "ensembl_id": "ENSG00000064601" } }, "GRch38": { "90": { "location": "20:45890144-45898820", "ensembl_id": "ENSG00000064601" } } }, "hgnc_date_symbol_changed": "2006-12-05" }, "entity_type": "gene", "entity_name": "CTSA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27664989", "31177426", "23175731", "32842921", "31177426" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Brain small vessel disease 6 with leukoencephalopathy, MIM# 621394" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "founder" ], "panel": { "id": 3141, "hash_id": null, "name": "Stroke", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.", "status": "public", "version": "1.48", "version_created": "2026-03-31T17:20:59.161732+11:00", "relevant_disorders": [ "Stroke", "HP:0001297" ], "stats": { "number_of_genes": 75, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "COMT2", "CFAP111" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25033", "gene_name": "leucine rich transmembrane and O-methyltransferase domain containing", "omim_gene": [ "612414" ], "alias_name": null, "gene_symbol": "LRTOMT", "hgnc_symbol": "LRTOMT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:71791382-71821828", "ensembl_id": "ENSG00000184154" } }, "GRch38": { "90": { "location": "11:72080331-72110782", "ensembl_id": "ENSG00000184154" } } }, "hgnc_date_symbol_changed": "2008-11-27" }, "entity_type": "gene", "entity_name": "LRTOMT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Deafness, autosomal recessive" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HER3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3431", "gene_name": "erb-b2 receptor tyrosine kinase 3", "omim_gene": [ "190151" ], "alias_name": [ "human epidermal growth factor receptor 3" ], "gene_symbol": "ERBB3", "hgnc_symbol": "ERBB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:56473641-56497289", "ensembl_id": "ENSG00000065361" } }, "GRch38": { "90": { "location": "12:56079857-56103505", "ensembl_id": "ENSG00000065361" } } }, "hgnc_date_symbol_changed": "1990-07-15" }, "entity_type": "gene", "entity_name": "ERBB3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Lethal congenital contractural syndrome 2" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FXR", "RIP14", "HRR1", "HRR-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7967", "gene_name": "nuclear receptor subfamily 1 group H member 4", "omim_gene": [ "603826" ], "alias_name": [ "farnesoid X receptor" ], "gene_symbol": "NR1H4", "hgnc_symbol": "NR1H4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:100867486-100958191", "ensembl_id": "ENSG00000012504" } }, "GRch38": { "90": { "location": "12:100473708-100564413", "ensembl_id": "ENSG00000012504" } } }, "hgnc_date_symbol_changed": "1999-09-17" }, "entity_type": "gene", "entity_name": "NR1H4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Cholestasis, infantile" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CMPST", "hCST" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11021", "gene_name": "solute carrier family 35 member A1", "omim_gene": [ "605634" ], "alias_name": null, "gene_symbol": "SLC35A1", "hgnc_symbol": "SLC35A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:88180341-88222054", "ensembl_id": "ENSG00000164414" } }, "GRch38": { "90": { "location": "6:87470623-87512336", "ensembl_id": "ENSG00000164414" } } }, "hgnc_date_symbol_changed": "1999-10-05" }, "entity_type": "gene", "entity_name": "SLC35A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "CDG syndrome type IIf" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HHG1", "SMMCI", "TPT", "TPTPS", "MCOPCB5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10848", "gene_name": "sonic hedgehog", "omim_gene": [ "600725" ], "alias_name": null, "gene_symbol": "SHH", "hgnc_symbol": "SHH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:155592680-155604967", "ensembl_id": "ENSG00000164690" } }, "GRch38": { "90": { "location": "7:155799986-155812273", "ensembl_id": "ENSG00000164690" } } }, "hgnc_date_symbol_changed": "1995-03-10" }, "entity_type": "gene", "entity_name": "SHH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Holoprosencephaly-3" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "VATB", "RTA1B", "Vma2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:853", "gene_name": "ATPase H+ transporting V1 subunit B1", "omim_gene": [ "192132" ], "alias_name": [ "Renal tubular acidosis with deafness" ], "gene_symbol": "ATP6V1B1", "hgnc_symbol": "ATP6V1B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:71163012-71192536", "ensembl_id": "ENSG00000116039" } }, "GRch38": { "90": { "location": "2:70935882-70965406", "ensembl_id": "ENSG00000116039" } } }, "hgnc_date_symbol_changed": "2002-05-10" }, "entity_type": "gene", "entity_name": "ATP6V1B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Renal tubular acidosis & hearing loss" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GP130", "LRP130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15714", "gene_name": "leucine rich pentatricopeptide repeat containing", "omim_gene": [ "607544" ], "alias_name": null, "gene_symbol": "LRPPRC", "hgnc_symbol": "LRPPRC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:44113647-44223144", "ensembl_id": "ENSG00000138095" } }, "GRch38": { "90": { "location": "2:43886508-43996005", "ensembl_id": "ENSG00000138095" } } }, "hgnc_date_symbol_changed": "2001-06-04" }, "entity_type": "gene", "entity_name": "LRPPRC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Leigh syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RAB39", "RAH", "NARR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16519", "gene_name": "RAB34, member RAS oncogene family", "omim_gene": [ "610917" ], "alias_name": [ "nine-amino acid residue-repeats" ], "gene_symbol": "RAB34", "hgnc_symbol": "RAB34", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:27041299-27045447", "ensembl_id": "ENSG00000109113" } }, "GRch38": { "90": { "location": "17:28714281-28718429", "ensembl_id": "ENSG00000109113" } } }, "hgnc_date_symbol_changed": "2001-09-14" }, "entity_type": "gene", "entity_name": "RAB34", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "PMID: 37384395" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Orofaciodigital syndrome 20, MIM#620718" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.318", "version_created": "2026-04-27T11:53:17.890231+10:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HP10122" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18188", "gene_name": "transmembrane and coiled-coil domains 1", "omim_gene": [ "614123" ], "alias_name": null, "gene_symbol": "TMCO1", "hgnc_symbol": "TMCO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:165696032-165796992", "ensembl_id": "ENSG00000143183" } }, "GRch38": { "90": { "location": "1:165724293-165827755", "ensembl_id": "ENSG00000143183" } } }, "hgnc_date_symbol_changed": "2005-07-13" }, "entity_type": "gene", "entity_name": "TMCO1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [ "CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME", "CFSMR", "Cleft palate" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.318", "version_created": "2026-04-27T11:53:17.890231+10:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GTAR", "KIAA0697", "FLJ22206", "NY-BR-16", "MASK2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23575", "gene_name": "ankyrin repeat domain 17", "omim_gene": [ "615929" ], "alias_name": null, "gene_symbol": "ANKRD17", "hgnc_symbol": "ANKRD17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:73939093-74124515", "ensembl_id": "ENSG00000132466" } }, "GRch38": { "90": { "location": "4:73073376-73258798", "ensembl_id": "ENSG00000132466" } } }, "hgnc_date_symbol_changed": "2003-11-25" }, "entity_type": "gene", "entity_name": "ANKRD17", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33909992" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Chopra-Amiel-Gordan syndrome, MIM# 619504", "Intellectual disability", "dysmorphic features" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.318", "version_created": "2026-04-27T11:53:17.890231+10:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0620" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9107", "gene_name": "plexin D1", "omim_gene": [ "604282" ], "alias_name": null, "gene_symbol": "PLXND1", "hgnc_symbol": "PLXND1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:129274018-129325661", "ensembl_id": "ENSG00000004399" } }, "GRch38": { "90": { "location": "3:129555175-129606818", "ensembl_id": "ENSG00000004399" } } }, "hgnc_date_symbol_changed": "1999-11-19" }, "entity_type": "gene", "entity_name": "PLXND1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 26068067" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Möbius syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3379, "hash_id": null, "name": "Congenital ophthalmoplegia", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.", "status": "public", "version": "1.14", "version_created": "2025-12-14T20:52:23.588623+11:00", "relevant_disorders": [ "Abnormality of eye movement", "HP:0000496" ], "stats": { "number_of_genes": 55, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ14917" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21061", "gene_name": "serine active site containing 1", "omim_gene": [ "614725" ], "alias_name": null, "gene_symbol": "SERAC1", "hgnc_symbol": "SERAC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:158530536-158589312", "ensembl_id": "ENSG00000122335" } }, "GRch38": { "90": { "location": "6:158109515-158168270", "ensembl_id": "ENSG00000122335" } } }, "hgnc_date_symbol_changed": "2003-05-12" }, "entity_type": "gene", "entity_name": "SERAC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27604308", "28482397", "27186703", "22683713", "28778788", "16527507", "29205472" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "MEGDHEL syndrome", "MEGDEL syndrome", "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739", "3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome", "Hypoglycemia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "0.10", "version_created": "2023-03-02T14:41:08.610876+11:00", "relevant_disorders": [ "Hyperammonaemia", "HP:0001987" ], "stats": { "number_of_genes": 43, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20510", "PYPAF2", "NBS1", "PAN1", "CLR19.9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22948", "gene_name": "NLR family pyrin domain containing 2", "omim_gene": [ "609364" ], "alias_name": [ "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2" ], "gene_symbol": "NLRP2", "hgnc_symbol": "NLRP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:55464498-55512510", "ensembl_id": "ENSG00000022556" } }, "GRch38": { "90": { "location": "19:54953130-55001142", "ensembl_id": "ENSG00000022556" } } }, "hgnc_date_symbol_changed": "2006-12-08" }, "entity_type": "gene", "entity_name": "NLRP2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30877238", "33090377", "29574422", "26323243", "19300480" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Maternal effect gene- causing phenotypes that include IUGR" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.104", "version_created": "2026-04-26T12:53:45.051003+10:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BUBR1", "MAD3L", "Bub1A", "SSK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1149", "gene_name": "BUB1 mitotic checkpoint serine/threonine kinase B", "omim_gene": [ "602860" ], "alias_name": null, "gene_symbol": "BUB1B", "hgnc_symbol": "BUB1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40453224-40513337", "ensembl_id": "ENSG00000156970" } }, "GRch38": { "90": { "location": "15:40161023-40221136", "ensembl_id": "ENSG00000156970" } } }, "hgnc_date_symbol_changed": "1998-03-25" }, "entity_type": "gene", "entity_name": "BUB1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "18548531" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Mosaic variegated aneuploidy syndrome 1, MIM#257300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.104", "version_created": "2026-04-26T12:53:45.051003+10:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NAG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15625", "gene_name": "neuroblastoma amplified sequence", "omim_gene": [ "608025" ], "alias_name": null, "gene_symbol": "NBAS", "hgnc_symbol": "NBAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:15307032-15701454", "ensembl_id": "ENSG00000151779" } }, "GRch38": { "90": { "location": "2:15166909-15561330", "ensembl_id": "ENSG00000151779" } } }, "hgnc_date_symbol_changed": "2009-02-16" }, "entity_type": "gene", "entity_name": "NBAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31761904", "20577004", "26286438" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.104", "version_created": "2026-04-26T12:53:45.051003+10:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GIP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4385", "gene_name": "G protein subunit alpha i2", "omim_gene": [ "139360" ], "alias_name": [ "GTP-binding regulatory protein Gi alpha-2 chain" ], "gene_symbol": "GNAI2", "hgnc_symbol": "GNAI2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:50263724-50296787", "ensembl_id": "ENSG00000114353" } }, "GRch38": { "90": { "location": "3:50226292-50259355", "ensembl_id": "ENSG00000114353" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GNAI2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40926810", "39298586" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Syndromic disease MONDO:0002254, GNAI2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.104", "version_created": "2026-04-26T12:53:45.051003+10:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDHF4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3048", "gene_name": "desmoglein 1", "omim_gene": [ "125670" ], "alias_name": null, "gene_symbol": "DSG1", "hgnc_symbol": "DSG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:28898052-28936992", "ensembl_id": "ENSG00000134760" } }, "GRch38": { "90": { "location": "18:31318089-31357029", "ensembl_id": "ENSG00000134760" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "DSG1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26288349", "19558595", "29315490", "31192455", "23974871", "29229434", "33666035" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0522" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29059", "gene_name": "IQ motif and Sec7 domain 2", "omim_gene": [ "300522" ], "alias_name": null, "gene_symbol": "IQSEC2", "hgnc_symbol": "IQSEC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:53262058-53350522", "ensembl_id": "ENSG00000124313" } }, "GRch38": { "90": { "location": "X:53225828-53321328", "ensembl_id": "ENSG00000124313" } } }, "hgnc_date_symbol_changed": "2004-08-27" }, "entity_type": "gene", "entity_name": "IQSEC2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31415821", "20473311", "30842726", "33368194", "23674175" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656", "Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NOT56L", "Not56", "CDGS4", "D16Ertd36e" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23056", "gene_name": "ALG3, alpha-1,3- mannosyltransferase", "omim_gene": [ "608750" ], "alias_name": [ "carbohydrate deficient glycoprotein syndrome type IV", "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "dol-P-Man dependent alpha-1,3- mannosyltransferase" ], "gene_symbol": "ALG3", "hgnc_symbol": "ALG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:183960089-183967336", "ensembl_id": "ENSG00000214160" } }, "GRch38": { "90": { "location": "3:184242301-184249548", "ensembl_id": "ENSG00000214160" } } }, "hgnc_date_symbol_changed": "2003-10-15" }, "entity_type": "gene", "entity_name": "ALG3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16006436" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Congenital disorder of glycosylation, type Id, MIM# 601110" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nudE", "FLJ20101", "NDE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17619", "gene_name": "nudE neurodevelopment protein 1", "omim_gene": [ "609449" ], "alias_name": null, "gene_symbol": "NDE1", "hgnc_symbol": "NDE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:15737124-15820210", "ensembl_id": "ENSG00000072864" } }, "GRch38": { "90": { "location": "16:15643267-15726353", "ensembl_id": "ENSG00000072864" } } }, "hgnc_date_symbol_changed": "2003-04-10" }, "entity_type": "gene", "entity_name": "NDE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21529752", "21529751", "30637988", "15473967" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10300", "FAP163" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21862", "gene_name": "WD repeat domain 60", "omim_gene": [ "615462" ], "alias_name": null, "gene_symbol": "WDR60", "hgnc_symbol": "WDR60", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:158649269-158749438", "ensembl_id": "ENSG00000126870" } }, "GRch38": { "90": { "location": "7:158856578-158956747", "ensembl_id": "ENSG00000126870" } } }, "hgnc_date_symbol_changed": "2005-04-19" }, "entity_type": "gene", "entity_name": "WDR60", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23910462", "29271569", "26874042" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Perinatal Autopsy Flagship" ], "phenotypes": [ "Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FAG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3588", "gene_name": "Fanconi anemia complementation group G", "omim_gene": [ "602956" ], "alias_name": [ "DNA repair protein XRCC9", "X-ray repair, complementing defective, in Chinese hamster, 9", "X-ray repair complementing defective repair in Chinese hamster cells 9" ], "gene_symbol": "FANCG", "hgnc_symbol": "FANCG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:35073832-35080013", "ensembl_id": "ENSG00000221829" } }, "GRch38": { "90": { "location": "9:35073835-35080016", "ensembl_id": "ENSG00000221829" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "FANCG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "IBMDx Study", "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "MONDO:0013565", "Fanconi anaemia, complementation group G, MIM# 614082" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3829, "hash_id": null, "name": "IBMDx study", "disease_group": "", "disease_sub_group": "", "description": "The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2, BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.", "status": "public", "version": "0.42", "version_created": "2026-03-19T18:45:41.236506+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Research", "slug": "research", "description": "Research panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "E3BP", "proX", "PDX1", "OPDX", "DLDBP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21350", "gene_name": "pyruvate dehydrogenase complex component X", "omim_gene": [ "608769" ], "alias_name": null, "gene_symbol": "PDHX", "hgnc_symbol": "PDHX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:34937376-35042138", "ensembl_id": "ENSG00000110435" } }, "GRch38": { "90": { "location": "11:34915829-35020591", "ensembl_id": "ENSG00000110435" } } }, "hgnc_date_symbol_changed": "2003-06-24" }, "entity_type": "gene", "entity_name": "PDHX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20002125", "34873726", "33092611", "30981218", "25087164", "22766002", "12557299", "14518830", "15303005", "16566017", "27343776" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lacticacidemia due to PDX1 deficiency MIM#245349", "Mitochondrial disease MONDO:0044970" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TJ6", "a2", "TJ6s", "TJ6M", "ATP6a2", "J6B7", "ATP6N1D", "Vph1", "Stv1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18481", "gene_name": "ATPase H+ transporting V0 subunit a2", "omim_gene": [ "611716" ], "alias_name": [ "infantile malignant osteopetrosis" ], "gene_symbol": "ATP6V0A2", "hgnc_symbol": "ATP6V0A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:124196865-124246302", "ensembl_id": "ENSG00000185344" } }, "GRch38": { "90": { "location": "12:123712318-123761755", "ensembl_id": "ENSG00000185344" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "ATP6V0A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19401719", "22773132" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cutis laxa, autosomal recessive, type IIA, 219200 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ36974", "MGC42174" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28648", "gene_name": "DIS3 like 3'-5' exoribonuclease 2", "omim_gene": [ "614184" ], "alias_name": null, "gene_symbol": "DIS3L2", "hgnc_symbol": "DIS3L2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:232825955-233209060", "ensembl_id": "ENSG00000144535" } }, "GRch38": { "90": { "location": "2:231961245-232344350", "ensembl_id": "ENSG00000144535" } } }, "hgnc_date_symbol_changed": "2007-01-17" }, "entity_type": "gene", "entity_name": "DIS3L2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22306653", "28328139", "29950491" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Perlman syndrome MIM# 267000" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HGPRT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5157", "gene_name": "hypoxanthine phosphoribosyltransferase 1", "omim_gene": [ "308000" ], "alias_name": [ "Lesch-Nyhan syndrome" ], "gene_symbol": "HPRT1", "hgnc_symbol": "HPRT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:133594183-133654543", "ensembl_id": "ENSG00000165704" } }, "GRch38": { "90": { "location": "X:134460153-134520513", "ensembl_id": "ENSG00000165704" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HPRT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301328" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lesch-Nyhan syndrome, MIM#300322" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AF-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5440", "gene_name": "interferon gamma receptor 2", "omim_gene": [ "147569" ], "alias_name": null, "gene_symbol": "IFNGR2", "hgnc_symbol": "IFNGR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:34775202-34851655", "ensembl_id": "ENSG00000159128" } }, "GRch38": { "90": { "location": "21:33402896-33479348", "ensembl_id": "ENSG00000159128" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "IFNGR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18625743", "31497017" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency 28, mycobacteriosis, MIM#614889" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CRF2-4", "CDW210B", "IL-10R2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5965", "gene_name": "interleukin 10 receptor subunit beta", "omim_gene": [ "123889" ], "alias_name": null, "gene_symbol": "IL10RB", "hgnc_symbol": "IL10RB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:34638663-34669539", "ensembl_id": "ENSG00000243646" } }, "GRch38": { "90": { "location": "21:33266358-33310187", "ensembl_id": "ENSG00000243646" } } }, "hgnc_date_symbol_changed": "1993-04-06" }, "entity_type": "gene", "entity_name": "IL10RB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22549091", "19890111", "21519361", "35187668", "31096038" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Inflammatory bowel disease 25, early onset, #MIM612657" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CI-13kA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7713", "gene_name": "NADH:ubiquinone oxidoreductase subunit S6", "omim_gene": [ "603848" ], "alias_name": [ "complex I 13kDa subunit A", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial" ], "gene_symbol": "NDUFS6", "hgnc_symbol": "NDUFS6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:1801514-1816719", "ensembl_id": "ENSG00000145494" } }, "GRch38": { "90": { "location": "5:1801400-1816605", "ensembl_id": "ENSG00000145494" } } }, "hgnc_date_symbol_changed": "1995-11-08" }, "entity_type": "gene", "entity_name": "NDUFS6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15372108", "19259137", "30948790" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0123", "Alpha-MPP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18667", "gene_name": "peptidase, mitochondrial processing alpha subunit", "omim_gene": [ "613036" ], "alias_name": null, "gene_symbol": "PMPCA", "hgnc_symbol": "PMPCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139305110-139318213", "ensembl_id": "ENSG00000165688" } }, "GRch38": { "90": { "location": "9:136410570-136423761", "ensembl_id": "ENSG00000165688" } } }, "hgnc_date_symbol_changed": "2003-06-20" }, "entity_type": "gene", "entity_name": "PMPCA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25808372", "26657514", "33272776", "30617178" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Spinocerebellar ataxia 2, MIM#213200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GC1", "FLJ13044", "NET44", "EIEE3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19954", "gene_name": "solute carrier family 25 member 22", "omim_gene": [ "609302" ], "alias_name": null, "gene_symbol": "SLC25A22", "hgnc_symbol": "SLC25A22", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:790475-798316", "ensembl_id": "ENSG00000177542" } }, "GRch38": { "90": { "location": "11:790475-798333", "ensembl_id": "ENSG00000177542" } } }, "hgnc_date_symbol_changed": "2002-12-10" }, "entity_type": "gene", "entity_name": "SLC25A22", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "15592994", "19780765", "24596948" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Developmental and epileptic encephalopathy MONDO:0100062" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDHR23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13733", "gene_name": "cadherin related 23", "omim_gene": [ "605516" ], "alias_name": [ "cadherin-related family member 23" ], "gene_symbol": "CDH23", "hgnc_symbol": "CDH23", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73156691-73575702", "ensembl_id": "ENSG00000107736" } }, "GRch38": { "90": { "location": "10:71396934-71815947", "ensembl_id": "ENSG00000107736" } } }, "hgnc_date_symbol_changed": "2000-10-19" }, "entity_type": "gene", "entity_name": "CDH23", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Usher syndrome, type 1D (MIM# 601067)", "Deafness, autosomal recessive 12 (MIM # 601386)", "Usher syndrome, type 1D/F digenic (MIM #601067)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "deafness" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2073", "gene_name": "tripeptidyl peptidase 1", "omim_gene": [ "607998" ], "alias_name": [ "TPP I" ], "gene_symbol": "TPP1", "hgnc_symbol": "TPP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:6634000-6640692", "ensembl_id": "ENSG00000166340" } }, "GRch38": { "90": { "location": "11:6612763-6619461", "ensembl_id": "ENSG00000166340" } } }, "hgnc_date_symbol_changed": "2004-12-10" }, "entity_type": "gene", "entity_name": "TPP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32684372", "31884868", "30470609", "33882967" ], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "for review", "treatable", "metabolic" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7601", "gene_name": "myosin IIIA", "omim_gene": [ "606808" ], "alias_name": null, "gene_symbol": "MYO3A", "hgnc_symbol": "MYO3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:26223196-26501456", "ensembl_id": "ENSG00000095777" } }, "GRch38": { "90": { "location": "10:25934267-26212527", "ensembl_id": "ENSG00000095777" } } }, "hgnc_date_symbol_changed": "2000-05-16" }, "entity_type": "gene", "entity_name": "MYO3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Deafness, autosomal recessive 30, MIM:607101" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "deafness" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HIP4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1550", "gene_name": "cystathionine-beta-synthase", "omim_gene": [ "613381" ], "alias_name": null, "gene_symbol": "CBS", "hgnc_symbol": "CBS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:44473301-44497053", "ensembl_id": "ENSG00000160200" } }, "GRch38": { "90": { "location": "21:43053191-43076943", "ensembl_id": "ENSG00000160200" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "CBS", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "2333882", "27229674", "9427154", "30681372" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Classic homocystinuria MONDO:0009352" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3960, "hash_id": null, "name": "Pneumothorax", "disease_group": "Respiratory disorders", "disease_sub_group": "Structural lung disorders", "description": "This panel contains genes that are reported causes of familial/sporadic spontaneous pneumothorax, or conditions where spontaneous pneumothorax is a differential diagnosis.\r\n\r\nThis panel is based on the Genomics England Pneumothorax - familial v2.38 gene panel.", "status": "public", "version": "1.1", "version_created": "2025-04-24T14:31:41.408160+10:00", "relevant_disorders": [ "Pneumothorax", "HP:0002107" ], "stats": { "number_of_genes": 18, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7979", "gene_name": "nuclear receptor subfamily 3 group C member 2", "omim_gene": [ "600983" ], "alias_name": null, "gene_symbol": "NR3C2", "hgnc_symbol": "NR3C2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:148999913-149365850", "ensembl_id": "ENSG00000151623" } }, "GRch38": { "90": { "location": "4:148078762-148444698", "ensembl_id": "ENSG00000151623" } } }, "hgnc_date_symbol_changed": "1988-08-19" }, "entity_type": "gene", "entity_name": "NR3C2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11134129", "11344206", "9662404", "16972228", "12788847" ], "evidence": [ "Expert Review Green", "KidGen_AldoHypertension v38.1.0", "Expert Review Green", "KidGen_AldoHypertension v38.1.0" ], "phenotypes": [ "Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735", "MONDO:0008329" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3993, "hash_id": null, "name": "Renal Tubulopathies and related disorders", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.", "status": "public", "version": "1.26", "version_created": "2026-03-30T10:01:51.458813+11:00", "relevant_disorders": [ "Renal tubular dysfunction", "HP:0000124; Nephrolithiasis", "HP:0000787; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 134, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BAF47", "Ini1", "Snr1", "hSNFS", "Sfh1p", "RDT", "PPP1R144" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11103", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1", "omim_gene": [ "601607" ], "alias_name": [ "sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144" ], "gene_symbol": "SMARCB1", "hgnc_symbol": "SMARCB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:24129150-24176703", "ensembl_id": "ENSG00000099956" } }, "GRch38": { "90": { "location": "22:23786963-23834516", "ensembl_id": "ENSG00000099956" } } }, "hgnc_date_symbol_changed": "1995-08-21" }, "entity_type": "gene", "entity_name": "SMARCB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Schwannoma, MONDO:0002546", "Schwannomatosis 1, MONDO:0024517", "Rhabdoid tumor predisposition syndrome 1, MONDO:0012252", "Rhabdoid tumor predisposition syndrome 1, MIM#609322", "Schwannomatosis, susceptibility to, 1, MIM#162091" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4357, "hash_id": null, "name": "Schwannoma", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with schwannoma. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with schwannoma and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:35:56.331762+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 7, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hSNF2b", "BRG1", "BAF190", "SNF2", "SWI2", "SNF2-BETA", "SNF2LB", "FLJ39786" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11100", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4", "omim_gene": [ "603254" ], "alias_name": [ "SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4" ], "gene_symbol": "SMARCA4", "hgnc_symbol": "SMARCA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:11071598-11176071", "ensembl_id": "ENSG00000127616" } }, "GRch38": { "90": { "location": "19:10961001-11065395", "ensembl_id": "ENSG00000127616" } } }, "hgnc_date_symbol_changed": "1995-07-17" }, "entity_type": "gene", "entity_name": "SMARCA4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Amber", "Literature", "Expert Review" ], "phenotypes": [ "Neuroblastoma, MONDO:0005072", "Rhabdoid tumor predisposition syndrome 2, MONDO:0013224", "Rhabdoid tumor predisposition syndrome 2, MIM#613325" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4361, "hash_id": null, "name": "Neuroblastoma", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with neuroblastoma. \r\n\r\nFurther information on the testing criteria for neuroblastoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3734-neuroblastoma-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with neuroblastoma and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:30:20.596726+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 3, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TEL1", "TELO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:795", "gene_name": "ATM serine/threonine kinase", "omim_gene": [ "607585" ], "alias_name": [ "TEL1, telomere maintenance 1, homolog (S. cerevisiae)" ], "gene_symbol": "ATM", "hgnc_symbol": "ATM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:108093211-108239829", "ensembl_id": "ENSG00000149311" } }, "GRch38": { "90": { "location": "11:108222484-108369102", "ensembl_id": "ENSG00000149311" } } }, "hgnc_date_symbol_changed": "1995-07-07" }, "entity_type": "gene", "entity_name": "ATM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "ATM-related cancer predisposition, MONDO:0700270", "Breast cancer, susceptibility to, MIM#114480" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "LYT-10", "p52", "p105", "NF-kB2", "p49/p100" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7795", "gene_name": "nuclear factor kappa B subunit 2", "omim_gene": [ "164012" ], "alias_name": null, "gene_symbol": "NFKB2", "hgnc_symbol": "NFKB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:104153867-104162281", "ensembl_id": "ENSG00000077150" } }, "GRch38": { "90": { "location": "10:102394110-102402529", "ensembl_id": "ENSG00000077150" } } }, "hgnc_date_symbol_changed": "1991-11-14" }, "entity_type": "gene", "entity_name": "NFKB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39644063" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Immunodeficiency, common variable, 10 MIM# 615577" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4389, "hash_id": null, "name": "Autoimmune Lymphoproliferative Syndrome", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)", "status": "public", "version": "1.12", "version_created": "2026-02-26T20:52:40.847942+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null } ] }