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GET /api/v1/entities/?format=api&page=337
{ "count": 36026, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=338", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=336", "results": [ { "gene_data": { "alias": [ "ADAR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:225", "gene_name": "adenosine deaminase, RNA specific", "omim_gene": [ "146920" ], "alias_name": null, "gene_symbol": "ADAR", "hgnc_symbol": "ADAR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:154554538-154600475", "ensembl_id": "ENSG00000160710" } }, "GRch38": { "90": { "location": "1:154582062-154627999", "ensembl_id": "ENSG00000160710" } } }, "hgnc_date_symbol_changed": "1995-12-12" }, "entity_type": "gene", "entity_name": "ADAR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32911246" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Aicardi-Goutieres syndrome 6", "neuroinflammatory disorder with cerebral calcification", "progressive loss of cognition", "spasticity", "dystonia", "parkinsonism", "OMIM 615010" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.51", "version_created": "2026-03-30T11:47:22.375379+11:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "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": "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:10701", "gene_name": "Sec23 homolog A, coat complex II component", "omim_gene": [ "610511" ], "alias_name": null, "gene_symbol": "SEC23A", "hgnc_symbol": "SEC23A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:39501123-39578850", "ensembl_id": "ENSG00000100934" } }, "GRch38": { "90": { "location": "14:39031919-39109646", "ensembl_id": "ENSG00000100934" } } }, "hgnc_date_symbol_changed": "2000-01-07" }, "entity_type": "gene", "entity_name": "SEC23A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38275611", "37828500", "34580982" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Craniolenticulosutural dysplasia, MIM#\t607812" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "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": [] }, { "gene_data": { "alias": [ "A1", "RFC37" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9972", "gene_name": "replication factor C subunit 4", "omim_gene": [ "102577" ], "alias_name": [ "A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit" ], "gene_symbol": "RFC4", "hgnc_symbol": "RFC4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:186507669-186524847", "ensembl_id": "ENSG00000163918" } }, "GRch38": { "90": { "location": "3:186789880-186807058", "ensembl_id": "ENSG00000163918" } } }, "hgnc_date_symbol_changed": "1994-10-14" }, "entity_type": "gene", "entity_name": "RFC4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39106866" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 72, "hash_id": null, "name": "Cerebellar and Pontocerebellar Hypoplasia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.", "status": "public", "version": "1.100", "version_created": "2026-04-02T11:42:58.167964+11:00", "relevant_disorders": [ "Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879" ], "stats": { "number_of_genes": 122, "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": [ "H2-ALPHA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24071", "gene_name": "tubulin alpha 3d", "omim_gene": null, "alias_name": [ "alpha-tubulin isotype H2-alpha" ], "gene_symbol": "TUBA3D", "hgnc_symbol": "TUBA3D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:132233666-132240507", "ensembl_id": "ENSG00000075886" } }, "GRch38": { "90": { "location": "2:131476093-131482934", "ensembl_id": "ENSG00000075886" } } }, "hgnc_date_symbol_changed": "2007-02-12" }, "entity_type": "gene", "entity_name": "TUBA3D", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29051577" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "keratoconus MONDO:0015486" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 91, "hash_id": null, "name": "Corneal Dystrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe corneal dystrophies are a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea, causing opacification. The corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities: (a). the anterior corneal dystrophies affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma, (b).the stromal corneal dystrophies affect the corneal stroma, (c). the posterior corneal dystrophies affect the Descemet membrane and the corneal endothelium. \r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Corneal Dystrophy' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.", "status": "public", "version": "1.21", "version_created": "2026-02-22T15:53:37.257206+11:00", "relevant_disorders": [ "Abnormal corneal morphology", "HP:0000481" ], "stats": { "number_of_genes": 33, "number_of_strs": 1, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10896", "gene_name": "SKI proto-oncogene", "omim_gene": [ "164780" ], "alias_name": null, "gene_symbol": "SKI", "hgnc_symbol": "SKI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:2160134-2241558", "ensembl_id": "ENSG00000157933" } }, "GRch38": { "90": { "location": "1:2228695-2310119", "ensembl_id": "ENSG00000157933" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "SKI", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "Other", "publications": [ "23023332", "23103230", "24736733" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Shprintzen-Goldberg syndrome, MIM# 182212" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 93, "hash_id": null, "name": "Craniosynostosis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.", "status": "public", "version": "1.84", "version_created": "2026-04-02T18:50:11.631878+11:00", "relevant_disorders": [ "Craniosynostosis HP:0001363" ], "stats": { "number_of_genes": 105, "number_of_strs": 0, "number_of_regions": 2 }, "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": [ "WAGR", "WIT-2", "AWT1", "NPHS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12796", "gene_name": "Wilms tumor 1", "omim_gene": [ "607102" ], "alias_name": null, "gene_symbol": "WT1", "hgnc_symbol": "WT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:32409321-32457176", "ensembl_id": "ENSG00000184937" } }, "GRch38": { "90": { "location": "11:32387775-32435630", "ensembl_id": "ENSG00000184937" } } }, "hgnc_date_symbol_changed": "1989-04-13" }, "entity_type": "gene", "entity_name": "WT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Wilms tumor, MONDO:0006058", "Wilms tumor 1, MONDO:0008679", "Wilms tumor, type 1, MIM#194070", "Denys-Drash syndrome, MIM#194080", "Frasier syndrome, MIM#136680" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "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 atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.47", "version_created": "2026-04-06T10:50:25.990411+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 2 }, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP434H0115" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25280", "gene_name": "tetratricopeptide repeat domain 25", "omim_gene": [ "617095" ], "alias_name": null, "gene_symbol": "TTC25", "hgnc_symbol": "TTC25", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40086888-40117648", "ensembl_id": "ENSG00000204815" } }, "GRch38": { "90": { "location": "17:41930635-41965651", "ensembl_id": "ENSG00000204815" } } }, "hgnc_date_symbol_changed": "2005-12-14" }, "entity_type": "gene", "entity_name": "TTC25", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27486780", "31765523", "33715250", "33746037", "34215651" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 35 (MIM#617092)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 108, "hash_id": null, "name": "Heterotaxy", "disease_group": "Dysmorphic and congenital abnormality syndromes", "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 PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.45", "version_created": "2026-03-17T16:09:39.911604+11:00", "relevant_disorders": [ "Heterotaxy", "HP:0030853; Dextrocardia", "HP:0001651; Asplenia", "HP:0001746; Abnormal spatial orientation of cardiac segments", "HP:0011534; Polysplenia", "HP:0001748;Midline liver", "HP:0034188" ], "stats": { "number_of_genes": 67, "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": null }, { "gene_data": { "alias": [ "skMLCK", "KMLC", "MLCK2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16243", "gene_name": "myosin light chain kinase 2", "omim_gene": [ "606566" ], "alias_name": [ "skeletal muscle myosin light chain kinase" ], "gene_symbol": "MYLK2", "hgnc_symbol": "MYLK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:30407111-30422492", "ensembl_id": "ENSG00000101306" } }, "GRch38": { "90": { "location": "20:31819308-31834689", "ensembl_id": "ENSG00000101306" } } }, "hgnc_date_symbol_changed": "2001-07-31" }, "entity_type": "gene", "entity_name": "MYLK2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "11733062", "24082139", "25825456", "20301725", "30681346" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cardiomyopathy, hypertrophic, 1, digenic, 192600" ], "mode_of_inheritance": "Other", "tags": [ "disputed" ], "panel": { "id": 111, "hash_id": null, "name": "Hypertrophic cardiomyopathy", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).", "status": "public", "version": "1.25", "version_created": "2026-03-11T18:45:28.302854+11:00", "relevant_disorders": [ "Hypertrophic cardiomyopathy", "HP:0001639" ], "stats": { "number_of_genes": 64, "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": null }, { "gene_data": { "alias": [ "JBTS14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14432", "gene_name": "transmembrane protein 237", "omim_gene": [ "614423" ], "alias_name": null, "gene_symbol": "TMEM237", "hgnc_symbol": "TMEM237", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:202484907-202508293", "ensembl_id": "ENSG00000155755" } }, "GRch38": { "90": { "location": "2:201620184-201643570", "ensembl_id": "ENSG00000155755" } } }, "hgnc_date_symbol_changed": "2011-05-20" }, "entity_type": "gene", "entity_name": "TMEM237", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22152675" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 14, MIM# 614424" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 129, "hash_id": null, "name": "Joubert syndrome and other neurological ciliopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.", "status": "public", "version": "1.33", "version_created": "2025-12-16T12:55:34.757878+11:00", "relevant_disorders": [ "Molar tooth sign on MRI", "HP:0002419; Joubert syndrome", "MONDO:0018772" ], "stats": { "number_of_genes": 69, "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" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ38568", "MRX93" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17342", "gene_name": "bromodomain and WD repeat domain containing 3", "omim_gene": [ "300553" ], "alias_name": null, "gene_symbol": "BRWD3", "hgnc_symbol": "BRWD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:79926353-80065187", "ensembl_id": "ENSG00000165288" } }, "GRch38": { "90": { "location": "X:80670854-80809688", "ensembl_id": "ENSG00000165288" } } }, "hgnc_date_symbol_changed": "2005-01-07" }, "entity_type": "gene", "entity_name": "BRWD3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30628072, 24462886" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, X-linked 93", "OMIM # 300659" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6740", "gene_name": "lysozyme", "omim_gene": [ "153450" ], "alias_name": [ "renal amyloidosis" ], "gene_symbol": "LYZ", "hgnc_symbol": "LYZ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:69742121-69748014", "ensembl_id": "ENSG00000090382" } }, "GRch38": { "90": { "location": "12:69348341-69354234", "ensembl_id": "ENSG00000090382" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "LYZ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "1808634", "8464497", "15745733," ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyloidosis, renal, MIM# 105200", "Amyloidosis, hereditary systemic 5, MIM#\t620658" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "OCRL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8108", "gene_name": "OCRL, inositol polyphosphate-5-phosphatase", "omim_gene": [ "300535" ], "alias_name": null, "gene_symbol": "OCRL", "hgnc_symbol": "OCRL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:128673826-128726538", "ensembl_id": "ENSG00000122126" } }, "GRch38": { "90": { "location": "X:129539849-129592561", "ensembl_id": "ENSG00000122126" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "OCRL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15627218", "9199559", "33517444" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Oculocerebrorenal syndrome MONDO:0010645", "Dent disease 2, MIM# 300555", "Lowe syndrome , MIM#309000" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "PEN2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30100", "gene_name": "presenilin enhancer gamma-secretase subunit", "omim_gene": [ "607632" ], "alias_name": null, "gene_symbol": "PSENEN", "hgnc_symbol": "PSENEN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36236015-36237911", "ensembl_id": "ENSG00000205155" } }, "GRch38": { "90": { "location": "19:35745114-35747519", "ensembl_id": "ENSG00000205155" } } }, "hgnc_date_symbol_changed": "2005-02-08" }, "entity_type": "gene", "entity_name": "PSENEN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20929727", "21412258", "27900998" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "HUSI-II" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11245", "gene_name": "serine peptidase inhibitor, Kazal type 2", "omim_gene": [ "605753" ], "alias_name": [ "acrosin-trypsin inhibitor" ], "gene_symbol": "SPINK2", "hgnc_symbol": "SPINK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:57676026-57687908", "ensembl_id": "ENSG00000128040" } }, "GRch38": { "90": { "location": "4:56809860-56821742", "ensembl_id": "ENSG00000128040" } } }, "hgnc_date_symbol_changed": "1993-12-01" }, "entity_type": "gene", "entity_name": "SPINK2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28554943" ], "evidence": [ "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10891", "gene_name": "SIX homeobox 5", "omim_gene": [ "600963" ], "alias_name": null, "gene_symbol": "SIX5", "hgnc_symbol": "SIX5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46268043-46272484", "ensembl_id": "ENSG00000177045" } }, "GRch38": { "90": { "location": "19:45764785-45769226", "ensembl_id": "ENSG00000177045" } } }, "hgnc_date_symbol_changed": "1997-05-29" }, "entity_type": "gene", "entity_name": "SIX5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17357085", "33624842", "20301554", "24730701", "22447252", "21280147", "14704431", "11950062", "10802667", "10802668" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Branchiootorenal syndrome 2, MIM# 610896" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "LPI-PC1", "LAT2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11066", "gene_name": "solute carrier family 7 member 8", "omim_gene": [ "604235" ], "alias_name": null, "gene_symbol": "SLC7A8", "hgnc_symbol": "SLC7A8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23594504-23652883", "ensembl_id": "ENSG00000092068" } }, "GRch38": { "90": { "location": "14:23125295-23183674", "ensembl_id": "ENSG00000092068" } } }, "hgnc_date_symbol_changed": "1999-10-05" }, "entity_type": "gene", "entity_name": "SLC7A8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40229141", "31231240" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Cataract, MONDO:0005129, SLC7A8-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [] }, { "gene_data": { "alias": [ "bA285G1.3", "KSP37" ], "biotype": "protein_coding", "hgnc_id": "HGNC:31658", "gene_name": "transmembrane protein 72", "omim_gene": null, "alias_name": null, "gene_symbol": "TMEM72", "hgnc_symbol": "TMEM72", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:45406648-45432450", "ensembl_id": "ENSG00000187783" } }, "GRch38": { "90": { "location": "10:44911200-44937002", "ensembl_id": "ENSG00000187783" } } }, "hgnc_date_symbol_changed": "2008-08-21" }, "entity_type": "gene", "entity_name": "TMEM72", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41308066" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Nephronophthisis, MONDO:0019005, TMEM72-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [] }, { "gene_data": { "alias": [ "KIAA0518", "MAD5", "MXD5", "FLJ12634" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14010", "gene_name": "MGA, MAX dimerization protein", "omim_gene": [ "616061" ], "alias_name": null, "gene_symbol": "MGA", "hgnc_symbol": "MGA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:41913422-42062141", "ensembl_id": "ENSG00000174197" } }, "GRch38": { "90": { "location": "15:41621224-41773081", "ensembl_id": "ENSG00000174197" } } }, "hgnc_date_symbol_changed": "2002-11-11" }, "entity_type": "gene", "entity_name": "MGA", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39600096", "20044811", "39545409" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Syndromic disease, MONDO:0002254, MGA-related", "Premature ovarian failure 26, MIM#\t621065" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [] }, { "gene_data": { "alias": [ "MGC39830", "AVO3", "PIA", "KIAA1999" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28611", "gene_name": "RPTOR independent companion of MTOR complex 2", "omim_gene": [ "609022" ], "alias_name": [ "rapamycin-insensitive companion of mTOR", "pianissimo" ], "gene_symbol": "RICTOR", "hgnc_symbol": "RICTOR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:38938021-39074510", "ensembl_id": "ENSG00000164327" } }, "GRch38": { "90": { "location": "5:38937919-39074408", "ensembl_id": "ENSG00000164327" } } }, "hgnc_date_symbol_changed": "2009-05-29" }, "entity_type": "gene", "entity_name": "RICTOR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39738822" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, RICTOR-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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [] }, { "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": null, "publications": [ "23623387", "17572665", "21705420", "24878229", "18758830", "24598713" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Yunis-Varon syndrome - MIM#216340", "Polymicrogyria with epilepsy MIM# 612691", "Charcot-Marie-Tooth disease, type 4J 611228", "Amyotrophic lateral sclerosis 11, MIM# 612577" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [] }, { "gene_data": { "alias": [ "MEGF2", "HFMI1", "FMI1", "CDHF11", "ADGRC3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3230", "gene_name": "cadherin EGF LAG seven-pass G-type receptor 3", "omim_gene": [ "604264" ], "alias_name": [ "flamingo homolog 1 (Drosophila)", "adhesion G protein-coupled receptor C3" ], "gene_symbol": "CELSR3", "hgnc_symbol": "CELSR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:48673902-48700348", "ensembl_id": "ENSG00000008300" } }, "GRch38": { "90": { "location": "3:48636469-48662915", "ensembl_id": "ENSG00000008300" } } }, "hgnc_date_symbol_changed": "1998-03-25" }, "entity_type": "gene", "entity_name": "CELSR3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38429302" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO#0700092), CELSR3-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "ACA31", "SNORA31A" ], "biotype": "snoRNA", "hgnc_id": "HGNC:32621", "gene_name": "small nucleolar RNA, H/ACA box 31", "omim_gene": null, "alias_name": null, "gene_symbol": "SNORA31", "hgnc_symbol": "SNORA31", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:45911615-45911744", "ensembl_id": "ENSG00000199477" } }, "GRch38": { "90": { "location": "13:45337480-45337609", "ensembl_id": "ENSG00000199477" } } }, "hgnc_date_symbol_changed": "2006-04-04" }, "entity_type": "gene", "entity_name": "SNORA31", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31806906" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "non-coding gene" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [] }, { "gene_data": { "alias": [ "LIN41", "LIN-41" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32669", "gene_name": "tripartite motif containing 71", "omim_gene": null, "alias_name": null, "gene_symbol": "TRIM71", "hgnc_symbol": "TRIM71", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:32859510-32939318", "ensembl_id": "ENSG00000206557" } }, "GRch38": { "90": { "location": "3:32818018-32897826", "ensembl_id": "ENSG00000206557" } } }, "hgnc_date_symbol_changed": "2006-03-30" }, "entity_type": "gene", "entity_name": "TRIM71", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29983323", "32168371", "30975633", "40892928" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital hydrocephalus 4 (MIM#618667)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "KIAA0465", "ACF7", "ABP620", "KIAA1251", "MACF", "FLJ45612", "FLJ46776" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13664", "gene_name": "microtubule-actin crosslinking factor 1", "omim_gene": [ "608271" ], "alias_name": [ "actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7" ], "gene_symbol": "MACF1", "hgnc_symbol": "MACF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:39546988-39952849", "ensembl_id": "ENSG00000127603" } }, "GRch38": { "90": { "location": "1:39081316-39487177", "ensembl_id": "ENSG00000127603" } } }, "hgnc_date_symbol_changed": "2002-01-09" }, "entity_type": "gene", "entity_name": "MACF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30471716", "37721175", "30842214" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Lissencephaly 9 with complex brainstem malformation, MIM#\t618325", "Congenital myasthenic syndrome, MONDO:0018940, MACF1-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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [] }, { "gene_data": { "alias": [ "KIAA1557", "DKFZp686G052", "FLJ30619", "BAF200" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18037", "gene_name": "AT-rich interaction domain 2", "omim_gene": [ "609539" ], "alias_name": null, "gene_symbol": "ARID2", "hgnc_symbol": "ARID2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:46123448-46301823", "ensembl_id": "ENSG00000189079" } }, "GRch38": { "90": { "location": "12:45729665-45908040", "ensembl_id": "ENSG00000189079" } } }, "hgnc_date_symbol_changed": "2004-01-28" }, "entity_type": "gene", "entity_name": "ARID2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30838730", "26238514" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Coffin-Siris syndrome 6, MIM#617808" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "HEP-COP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2230", "gene_name": "coatomer protein complex subunit alpha", "omim_gene": [ "601924" ], "alias_name": [ "proxenin", "xenin" ], "gene_symbol": "COPA", "hgnc_symbol": "COPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:160259063-160313190", "ensembl_id": "ENSG00000122218" } }, "GRch38": { "90": { "location": "1:160289273-160343400", "ensembl_id": "ENSG00000122218" } } }, "hgnc_date_symbol_changed": "1996-11-15" }, "entity_type": "gene", "entity_name": "COPA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31455335", "30804679" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Autoimmune interstitial lung, joint, and kidney disease, MIM 616414" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2397", "gene_name": "crystallin beta B1", "omim_gene": [ "600929" ], "alias_name": null, "gene_symbol": "CRYBB1", "hgnc_symbol": "CRYBB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:26995242-27014052", "ensembl_id": "ENSG00000100122" } }, "GRch38": { "90": { "location": "22:26599278-26618088", "ensembl_id": "ENSG00000100122" } } }, "hgnc_date_symbol_changed": "1994-08-18" }, "entity_type": "gene", "entity_name": "CRYBB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12360425", "16110300", "17460281", "21972112" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cataract 17, multiple types, MIM# 611544" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "PKND" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2536", "gene_name": "cathepsin K", "omim_gene": [ "601105" ], "alias_name": null, "gene_symbol": "CTSK", "hgnc_symbol": "CTSK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:150768684-150780799", "ensembl_id": "ENSG00000143387" } }, "GRch38": { "90": { "location": "1:150796208-150808323", "ensembl_id": "ENSG00000143387" } } }, "hgnc_date_symbol_changed": "1995-05-11" }, "entity_type": "gene", "entity_name": "CTSK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pycnodysostosis, MIM# 265800" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:32698", "gene_name": "dual oxidase maturation factor 2", "omim_gene": [ "612772" ], "alias_name": null, "gene_symbol": "DUOXA2", "hgnc_symbol": "DUOXA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:45406519-45410619", "ensembl_id": "ENSG00000140274" } }, "GRch38": { "90": { "location": "15:45114321-45118421", "ensembl_id": "ENSG00000140274" } } }, "hgnc_date_symbol_changed": "2006-07-25" }, "entity_type": "gene", "entity_name": "DUOXA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27349010", "21367925", "28100324", "26758695", "18042646" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Thyroid dyshormonogenesis 5 - MIM#274900" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "ETB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3180", "gene_name": "endothelin receptor type B", "omim_gene": [ "131244" ], "alias_name": null, "gene_symbol": "EDNRB", "hgnc_symbol": "EDNRB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:78469616-78493903", "ensembl_id": "ENSG00000136160" } }, "GRch38": { "90": { "location": "13:77895481-77919768", "ensembl_id": "ENSG00000136160" } } }, "hgnc_date_symbol_changed": "1992-02-13" }, "entity_type": "gene", "entity_name": "EDNRB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28502583", "25852447", "21373256", "16237557", "11773966", "11891690", "8001158", "10528251", "10528251", "19764031", "28236341" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Waardenburg syndrome type 4A MONDO:0010192", "sensorineural hearing loss", "pigmentary abnormalities", "Hirschsprung disease" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "FIL1", "FIL1(DELTA)", "FIL1D", "IL1HY1", "IL1RP3", "IL1L1", "IL-1F5", "IL36RA", "MGC29840" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15561", "gene_name": "interleukin 36 receptor antagonist", "omim_gene": [ "605507" ], "alias_name": [ "family of interleukin 1-delta", "interleukin-1 receptor antagonist homolog 1", "interleukin-1 HY1", "IL-1 related protein 3" ], "gene_symbol": "IL36RN", "hgnc_symbol": "IL36RN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:113816215-113822959", "ensembl_id": "ENSG00000136695" } }, "GRch38": { "90": { "location": "2:113058638-113065382", "ensembl_id": "ENSG00000136695" } } }, "hgnc_date_symbol_changed": "2011-06-06" }, "entity_type": "gene", "entity_name": "IL36RN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21848462", "21839423", "22903787", "23648549" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Psoriasis 14, pustular, MIM# 614204", "Autoinflammatory syndrome, MONDO:0019751, IL36RN-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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "Kv2.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6231", "gene_name": "potassium voltage-gated channel subfamily B member 1", "omim_gene": [ "600397" ], "alias_name": null, "gene_symbol": "KCNB1", "hgnc_symbol": "KCNB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:47980414-48099184", "ensembl_id": "ENSG00000158445" } }, "GRch38": { "90": { "location": "20:49293394-49484297", "ensembl_id": "ENSG00000158445" } } }, "hgnc_date_symbol_changed": "1991-08-13" }, "entity_type": "gene", "entity_name": "KCNB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31600826", "31513310" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 26, MIM# 616056" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:13999", "gene_name": "PR/SET domain 15", "omim_gene": [ "617692" ], "alias_name": null, "gene_symbol": "PRDM15", "hgnc_symbol": "PRDM15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:43218385-43299591", "ensembl_id": "ENSG00000141956" } }, "GRch38": { "90": { "location": "21:41798225-41879482", "ensembl_id": "ENSG00000141956" } } }, "hgnc_date_symbol_changed": "2000-11-28" }, "entity_type": "gene", "entity_name": "PRDM15", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31950080" ], "evidence": [ "Literature", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Galloway-Mowat syndrome MONDO:0009627, PRDM15-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "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": [ "PNK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9154", "gene_name": "polynucleotide kinase 3'-phosphatase", "omim_gene": [ "605610" ], "alias_name": null, "gene_symbol": "PNKP", "hgnc_symbol": "PNKP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50364461-50371166", "ensembl_id": "ENSG00000039650" } }, "GRch38": { "90": { "location": "19:49859882-49878351", "ensembl_id": "ENSG00000039650" } } }, "hgnc_date_symbol_changed": "1999-12-22" }, "entity_type": "gene", "entity_name": "PNKP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20118933", "23224214", "32980744", "31707899" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microcephaly, seizures, and developmental delay, MIM# 613402", "MONDO:0013254" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "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": [ "GTPCH1", "DYT5a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4193", "gene_name": "GTP cyclohydrolase 1", "omim_gene": [ "600225" ], "alias_name": [ "dopa-responsive dystonia" ], "gene_symbol": "GCH1", "hgnc_symbol": "GCH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:55308726-55369570", "ensembl_id": "ENSG00000131979" } }, "GRch38": { "90": { "location": "14:54842008-54902852", "ensembl_id": "ENSG00000131979" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "GCH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910", "Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 145, "hash_id": null, "name": "Neurotransmitter Defects", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.8", "version_created": "2026-01-09T20:59:22.980216+11:00", "relevant_disorders": [ "Abnormal CSF metabolite concentration", "HP:0025454" ], "stats": { "number_of_genes": 41, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12776", "gene_name": "Wnt family member 11", "omim_gene": [ "603699" ], "alias_name": null, "gene_symbol": "WNT11", "hgnc_symbol": "WNT11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:75897369-75921780", "ensembl_id": "ENSG00000085741" } }, "GRch38": { "90": { "location": "11:76186325-76210736", "ensembl_id": "ENSG00000085741" } } }, "hgnc_date_symbol_changed": "1998-08-06" }, "entity_type": "gene", "entity_name": "WNT11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34875064" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Osteoporosis, MONDO:0005298, WNT11-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 147, "hash_id": null, "name": "Osteogenesis Imperfecta and Osteoporosis", "disease_group": "Skeletal disorders; Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.18", "version_created": "2026-02-22T14:59:29.563350+11:00", "relevant_disorders": [ "Increased susceptibility to fractures", "HP:0002659" ], "stats": { "number_of_genes": 48, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ND4", "NAD4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7459", "gene_name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4", "omim_gene": [ "516003" ], "alias_name": [ "complex I ND4 subunit", "NADH-ubiquinone oxidoreductase chain 4" ], "gene_symbol": "MT-ND4", "hgnc_symbol": "MT-ND4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:10760-12137", "ensembl_id": "ENSG00000198886" } }, "GRch38": { "90": { "location": "MT:10760-12137", "ensembl_id": "ENSG00000198886" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-ND4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "12707444", "16120329", "15576045", "20502985", "27761019", "32445240", "32659360", "3201231" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-ND4-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 149, "hash_id": null, "name": "Optic Atrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.", "status": "public", "version": "1.72", "version_created": "2026-03-31T18:57:17.873049+11:00", "relevant_disorders": [ "Optic atrophy", "HP:0000648" ], "stats": { "number_of_genes": 80, "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": [ "SAP49", "SF3b49", "Hsh49" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10771", "gene_name": "splicing factor 3b subunit 4", "omim_gene": [ "605593" ], "alias_name": null, "gene_symbol": "SF3B4", "hgnc_symbol": "SF3B4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:149895209-149900236", "ensembl_id": "ENSG00000143368" } }, "GRch38": { "90": { "location": "1:149923317-149928344", "ensembl_id": "ENSG00000143368" } } }, "hgnc_date_symbol_changed": "2000-02-29" }, "entity_type": "gene", "entity_name": "SF3B4", "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": "0.61", "version_created": "2026-01-26T17:52:14.382309+11:00", "relevant_disorders": [ "Pierre Robin sequence", "HP:0000201" ], "stats": { "number_of_genes": 54, "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": [ "YF5", "A2", "LRRC76" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1260", "gene_name": "chromosome 21 open reading frame 2", "omim_gene": [ "603191" ], "alias_name": [ "nuclear encoded mitochondrial protein", "leucine rich repeat containing 76" ], "gene_symbol": "C21orf2", "hgnc_symbol": "C21orf2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:45748827-45759285", "ensembl_id": "ENSG00000160226" } }, "GRch38": { "90": { "location": "21:44328944-44339402", "ensembl_id": "ENSG00000160226" } } }, "hgnc_date_symbol_changed": "1998-08-06" }, "entity_type": "gene", "entity_name": "C21orf2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26974433", "27548899", "28422394" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spondylometaphyseal dysplasia, axial, MIM# 602271" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 179, "hash_id": null, "name": "Skeletal Ciliopathies", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.", "status": "public", "version": "1.23", "version_created": "2026-02-26T20:48:41.390236+11:00", "relevant_disorders": [ "Short rib", "HP:0000773; Polydactyly", "HP:0010442; Bell-shaped thorax", "HP:0001591" ], "stats": { "number_of_genes": 37, "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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1131" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20157", "gene_name": "HECT domain E3 ubiquitin protein ligase 1", "omim_gene": null, "alias_name": null, "gene_symbol": "HECTD1", "hgnc_symbol": "HECTD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:31569318-31677010", "ensembl_id": "ENSG00000092148" } }, "GRch38": { "90": { "location": "14:31100112-31207804", "ensembl_id": "ENSG00000092148" } } }, "hgnc_date_symbol_changed": "2002-12-18" }, "entity_type": "gene", "entity_name": "HECTD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39879987" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092" ], "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": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "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": [] }, { "gene_data": { "alias": [ "CDGS", "CDG1a", "PMI", "PMI1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9115", "gene_name": "phosphomannomutase 2", "omim_gene": [ "601785" ], "alias_name": [ "phosphomannose isomerase 1", "mannose-6-phosphate isomerase" ], "gene_symbol": "PMM2", "hgnc_symbol": "PMM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:8882680-8943188", "ensembl_id": "ENSG00000140650" } }, "GRch38": { "90": { "location": "16:8788823-8849331", "ensembl_id": "ENSG00000140650" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "PMM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28108845", "28373276", "32595772" ], "evidence": [ "Expert Review Green", "Expert Review", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ia (MIM#212065)", "Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related" ], "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": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "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": [ "EFGM", "GFM", "EGF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13780", "gene_name": "G elongation factor mitochondrial 1", "omim_gene": [ "606639" ], "alias_name": null, "gene_symbol": "GFM1", "hgnc_symbol": "GFM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:158362067-158410364", "ensembl_id": "ENSG00000168827" } }, "GRch38": { "90": { "location": "3:158644278-158692575", "ensembl_id": "ENSG00000168827" } } }, "hgnc_date_symbol_changed": "2004-11-25" }, "entity_type": "gene", "entity_name": "GFM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31680380", "25852744", "26937387" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 1 MIM#609060" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": 437, "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": null }, { "gene_data": { "alias": [ "DLDH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2898", "gene_name": "dihydrolipoamide dehydrogenase", "omim_gene": [ "238331" ], "alias_name": [ "E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex" ], "gene_symbol": "DLD", "hgnc_symbol": "DLD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:107531415-107572175", "ensembl_id": "ENSG00000091140" } }, "GRch38": { "90": { "location": "7:107890970-107931730", "ensembl_id": "ENSG00000091140" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "DLD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "3769994", "8506365", "9934985", "17404228", "21558426", "21930696" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Dihydrolipoamide dehydrogenase deficiency MIM#246900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": 437, "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": null }, { "gene_data": { "alias": [ "PTS1R" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9719", "gene_name": "peroxisomal biogenesis factor 5", "omim_gene": [ "600414" ], "alias_name": [ "peroxisomal targeting signal 1 receptor", "peroxisomal import receptor 5" ], "gene_symbol": "PEX5", "hgnc_symbol": "PEX5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7341281-7371170", "ensembl_id": "ENSG00000139197" } }, "GRch38": { "90": { "location": "12:7188685-7218574", "ensembl_id": "ENSG00000139197" } } }, "hgnc_date_symbol_changed": "2004-03-19" }, "entity_type": "gene", "entity_name": "PEX5", "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": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "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": [ "beta-5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20774", "gene_name": "tubulin beta 4A class IVa", "omim_gene": [ "602662" ], "alias_name": [ "class IVa beta-tubulin" ], "gene_symbol": "TUBB4A", "hgnc_symbol": "TUBB4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:6494330-6502859", "ensembl_id": "ENSG00000104833" } }, "GRch38": { "90": { "location": "19:6494319-6502848", "ensembl_id": "ENSG00000104833" } } }, "hgnc_date_symbol_changed": "2011-10-10" }, "entity_type": "gene", "entity_name": "TUBB4A", "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": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "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": [ "RBIG1", "FLJ21044", "HGPS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13433", "gene_name": "roundabout guidance receptor 3", "omim_gene": [ "608630" ], "alias_name": null, "gene_symbol": "ROBO3", "hgnc_symbol": "ROBO3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:124735282-124751366", "ensembl_id": "ENSG00000154134" } }, "GRch38": { "90": { "location": "11:124865386-124881470", "ensembl_id": "ENSG00000154134" } } }, "hgnc_date_symbol_changed": "2004-05-10" }, "entity_type": "gene", "entity_name": "ROBO3", "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": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "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": [ "B8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7685", "gene_name": "NADH:ubiquinone oxidoreductase subunit A2", "omim_gene": [ "602137" ], "alias_name": [ "complex I B8 subunit" ], "gene_symbol": "NDUFA2", "hgnc_symbol": "NDUFA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:140018325-140027370", "ensembl_id": "ENSG00000131495" } }, "GRch38": { "90": { "location": "5:140638740-140647785", "ensembl_id": "ENSG00000131495" } } }, "hgnc_date_symbol_changed": "1996-08-30" }, "entity_type": "gene", "entity_name": "NDUFA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28857146", "32154054", "18513682" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235" ], "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": "0.610", "version_created": "2026-03-31T18:57:58.699788+11:00", "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": null }, { "gene_data": { "alias": [ "STL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2200", "gene_name": "collagen type II alpha 1 chain", "omim_gene": [ "120140" ], "alias_name": null, "gene_symbol": "COL2A1", "hgnc_symbol": "COL2A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:48366748-48398269", "ensembl_id": "ENSG00000139219" } }, "GRch38": { "90": { "location": "12:47972965-48004486", "ensembl_id": "ENSG00000139219" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "COL2A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27408751" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Deafness Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Stickler syndrome, type I, MIM108300" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.359", "version_created": "2026-04-03T14:38:51.840380+11:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "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": [ "KIAA1259", "Ino80", "hINO80", "INO80A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26956", "gene_name": "INO80 complex subunit", "omim_gene": [ "610169" ], "alias_name": [ "INO80 complex subunit A" ], "gene_symbol": "INO80", "hgnc_symbol": "INO80", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:41271078-41408552", "ensembl_id": "ENSG00000128908" } }, "GRch38": { "90": { "location": "15:40978880-41116354", "ensembl_id": "ENSG00000128908" } } }, "hgnc_date_symbol_changed": "2008-08-07" }, "entity_type": "gene", "entity_name": "INO80", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25312759" ], "evidence": [ "Expert Review Amber", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Primary immunodeficiency, MONDO:0003778" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 222, "hash_id": null, "name": "Predominantly Antibody Deficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\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": "1.4", "version_created": "2025-09-11T18:11:50.640122+10:00", "relevant_disorders": [ "Decreased immunoglobulin level", "HP:0041078" ], "stats": { "number_of_genes": 58, "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": [ "PIGEA14", "PIGEA-14", "Chibby", "Cby" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1307", "gene_name": "chibby family member 1, beta catenin antagonist", "omim_gene": [ "607757" ], "alias_name": [ "chibby CTNNB1-mediated transcription inhibitor" ], "gene_symbol": "CBY1", "hgnc_symbol": "CBY1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:39052641-39069859", "ensembl_id": "ENSG00000100211" } }, "GRch38": { "90": { "location": "22:38656636-38673854", "ensembl_id": "ENSG00000100211" } } }, "hgnc_date_symbol_changed": "2007-01-26" }, "entity_type": "gene", "entity_name": "CBY1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33131181", "25103236", "25220153" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "intellectual disability", "cerebellar ataxia", "molar tooth sign", "polydactyly", "Joubert syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "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": [ "EF-Tsmt", "EF-TS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12367", "gene_name": "Ts translation elongation factor, mitochondrial", "omim_gene": [ "604723" ], "alias_name": null, "gene_symbol": "TSFM", "hgnc_symbol": "TSFM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:58176372-58201854", "ensembl_id": "ENSG00000123297" } }, "GRch38": { "90": { "location": "12:57782589-57808071", "ensembl_id": "ENSG00000123297" } } }, "hgnc_date_symbol_changed": "1999-05-25" }, "entity_type": "gene", "entity_name": "TSFM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25037205", "33816677", "31451716", "22499341" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 3, MIM#610505" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "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": [ "UGPP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12527", "gene_name": "UDP-glucose pyrophosphorylase 2", "omim_gene": [ "191760" ], "alias_name": [ "UTP--glucose-1-phosphate uridylyltransferase" ], "gene_symbol": "UGP2", "hgnc_symbol": "UGP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:64068074-64118696", "ensembl_id": "ENSG00000169764" } }, "GRch38": { "90": { "location": "2:63840940-63891562", "ensembl_id": "ENSG00000169764" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "UGP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31820119" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epileptic encephalopathy", "intellectual disability", "microcephaly" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "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": [ "DRN3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12269", "gene_name": "three prime repair exonuclease 1", "omim_gene": [ "606609" ], "alias_name": null, "gene_symbol": "TREX1", "hgnc_symbol": "TREX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:48506445-48509044", "ensembl_id": "ENSG00000213689" } }, "GRch38": { "90": { "location": "3:48465811-48467645", "ensembl_id": "ENSG00000213689" } } }, "hgnc_date_symbol_changed": "2000-05-17" }, "entity_type": "gene", "entity_name": "TREX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Aicardi-Goutieres syndrome 1, dominant and recessive, MIM#\t225750" ], "mode_of_inheritance": "BOTH monoallelic and 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": "0.393", "version_created": "2026-03-26T22:06:36.010882+11:00", "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": 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": [ "FLJ20695" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22965", "gene_name": "peroxisomal biogenesis factor 26", "omim_gene": [ "608666" ], "alias_name": null, "gene_symbol": "PEX26", "hgnc_symbol": "PEX26", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:18560689-18613905", "ensembl_id": "ENSG00000215193" } }, "GRch38": { "90": { "location": "22:18077920-18131138", "ensembl_id": "ENSG00000215193" } } }, "hgnc_date_symbol_changed": "2003-08-05" }, "entity_type": "gene", "entity_name": "PEX26", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Peroxisome biogenesis disorder 7A (Zellweger), 614872", "Peroxisome biogenesis disorder 7B, 614873" ], "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": "0.393", "version_created": "2026-03-26T22:06:36.010882+11:00", "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": 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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9777", "gene_name": "RAB3A, member RAS oncogene family", "omim_gene": [ "179490" ], "alias_name": [ "RAS-associated protein RAB3A" ], "gene_symbol": "RAB3A", "hgnc_symbol": "RAB3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:18307594-18314884", "ensembl_id": "ENSG00000105649" } }, "GRch38": { "90": { "location": "19:18196784-18204074", "ensembl_id": "ENSG00000105649" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "RAB3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40166812" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "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": [] }, { "gene_data": { "alias": [ "SGC32445", "SPG72", "Yip2d" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17975", "gene_name": "receptor accessory protein 2", "omim_gene": [ "609347" ], "alias_name": null, "gene_symbol": "REEP2", "hgnc_symbol": "REEP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:137774706-137782658", "ensembl_id": "ENSG00000132563" } }, "GRch38": { "90": { "location": "5:138439017-138446969", "ensembl_id": "ENSG00000132563" } } }, "hgnc_date_symbol_changed": "2006-02-07" }, "entity_type": "gene", "entity_name": "REEP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33526816", "28491902", "24388663" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Spastic paraplegia 72, dominant and recessive, MIM# 615625", "MONDO:0014282" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4879", "gene_name": "hexosaminidase subunit beta", "omim_gene": [ "606873" ], "alias_name": [ "beta-hexosaminidase subunit beta" ], "gene_symbol": "HEXB", "hgnc_symbol": "HEXB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:73935848-74018472", "ensembl_id": "ENSG00000049860" } }, "GRch38": { "90": { "location": "5:74640023-74722647", "ensembl_id": "ENSG00000049860" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HEXB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described", "Tay-Sachs disease" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2260", "gene_name": "COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor", "omim_gene": [ "602125" ], "alias_name": [ "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase" ], "gene_symbol": "COX10", "hgnc_symbol": "COX10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:13972813-14111994", "ensembl_id": "ENSG00000006695" } }, "GRch38": { "90": { "location": "17:14069496-14208677", "ensembl_id": "ENSG00000006695" } } }, "hgnc_date_symbol_changed": "1996-10-31" }, "entity_type": "gene", "entity_name": "COX10", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10767350" ], "evidence": [ "Expert Review Amber", "Royal Melbourne Hospital" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046)" ], "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": [ "FLJ13110", "SPG31", "Yip2a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25786", "gene_name": "receptor accessory protein 1", "omim_gene": [ "609139" ], "alias_name": [ "receptor expression enhancing protein 1" ], "gene_symbol": "REEP1", "hgnc_symbol": "REEP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:86441116-86565206", "ensembl_id": "ENSG00000068615" } }, "GRch38": { "90": { "location": "2:86213993-86338083", "ensembl_id": "ENSG00000068615" } } }, "hgnc_date_symbol_changed": "2006-02-07" }, "entity_type": "gene", "entity_name": "REEP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "27066569", "31872057", "22703882", "29124833" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011", "Neuronopathy, distal hereditary motor, type VB MIM#614751", "Spastic paraplegia 31, autosomal dominant MIM#610250" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11802", "gene_name": "TIA1 cytotoxic granule associated RNA binding protein", "omim_gene": [ "603518" ], "alias_name": [ "T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40" ], "gene_symbol": "TIA1", "hgnc_symbol": "TIA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:70436576-70475792", "ensembl_id": "ENSG00000116001" } }, "GRch38": { "90": { "location": "2:70209444-70248660", "ensembl_id": "ENSG00000116001" } } }, "hgnc_date_symbol_changed": "1995-11-01" }, "entity_type": "gene", "entity_name": "TIA1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "23401021" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "distal myopathy, Welander type MONDO:0011466" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "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": [] }, { "gene_data": { "alias": [ "FLJ20695" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22965", "gene_name": "peroxisomal biogenesis factor 26", "omim_gene": [ "608666" ], "alias_name": null, "gene_symbol": "PEX26", "hgnc_symbol": "PEX26", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:18560689-18613905", "ensembl_id": "ENSG00000215193" } }, "GRch38": { "90": { "location": "22:18077920-18131138", "ensembl_id": "ENSG00000215193" } } }, "hgnc_date_symbol_changed": "2003-08-05" }, "entity_type": "gene", "entity_name": "PEX26", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28944237" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872", "Peroxisome biogenesis disorder 7B MIM#614873" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3099, "hash_id": null, "name": "Syndromic Retinopathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.", "status": "public", "version": "0.256", "version_created": "2026-03-31T19:05:29.271183+11:00", "relevant_disorders": [ "Retinopathy", "HP:0000488" ], "stats": { "number_of_genes": 138, "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": [] }, { "gene_data": { "alias": [ "Nav1.8", "hPN3", "SNS", "PN3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10582", "gene_name": "sodium voltage-gated channel alpha subunit 10", "omim_gene": [ "604427" ], "alias_name": null, "gene_symbol": "SCN10A", "hgnc_symbol": "SCN10A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:38738293-38835501", "ensembl_id": "ENSG00000185313" } }, "GRch38": { "90": { "location": "3:38696802-38794010", "ensembl_id": "ENSG00000185313" } } }, "hgnc_date_symbol_changed": "1996-04-12" }, "entity_type": "gene", "entity_name": "SCN10A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33775738", "30731422", "30554136", "23115331", "26711856", "24776970", "25316021", "25250524", "24006052", "28665811", "27598514", "24813307" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Small fibre neuropathy", "Episodic pain syndrome, familial, 2, MIM# 615551" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3126, "hash_id": null, "name": "Pain syndromes", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Mendelian disorders of pain perception, including insensitivity to pain or increased pain perception, with thanks to Genomics England PanelApp.", "status": "public", "version": "0.38", "version_created": "2026-02-22T15:47:27.675595+11:00", "relevant_disorders": [ "Pain", "HP:0012531" ], "stats": { "number_of_genes": 31, "number_of_strs": 1, "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": [ "EIF2Bdelta", "EIF-2B", "DKFZP586J0119", "EIF2B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3260", "gene_name": "eukaryotic translation initiation factor 2B subunit delta", "omim_gene": [ "606687" ], "alias_name": null, "gene_symbol": "EIF2B4", "hgnc_symbol": "EIF2B4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:27587219-27593353", "ensembl_id": "ENSG00000115211" } }, "GRch38": { "90": { "location": "2:27364352-27370486", "ensembl_id": "ENSG00000115211" } } }, "hgnc_date_symbol_changed": "1998-10-16" }, "entity_type": "gene", "entity_name": "EIF2B4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Leukoencephaly with vanishing white matter, 603896 (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": [ "GC-SA3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4685", "gene_name": "guanylate cyclase 1 soluble subunit alpha", "omim_gene": [ "139396" ], "alias_name": null, "gene_symbol": "GUCY1A3", "hgnc_symbol": "GUCY1A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:156587863-156653501", "ensembl_id": "ENSG00000164116" } }, "GRch38": { "90": { "location": "4:155666711-155732349", "ensembl_id": "ENSG00000164116" } } }, "hgnc_date_symbol_changed": "1993-11-09" }, "entity_type": "gene", "entity_name": "GUCY1A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Moyamoya 6 with achalasia, 615750 (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": [ "AILIM", "CD278" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5351", "gene_name": "inducible T-cell costimulator", "omim_gene": [ "604558" ], "alias_name": [ "activation-inducible lymphocyte immunomediatory molecule" ], "gene_symbol": "ICOS", "hgnc_symbol": "ICOS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:204801471-204826300", "ensembl_id": "ENSG00000163600" } }, "GRch38": { "90": { "location": "2:203936748-203961577", "ensembl_id": "ENSG00000163600" } } }, "hgnc_date_symbol_changed": "2000-02-29" }, "entity_type": "gene", "entity_name": "ICOS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency, common variable, 1, 607594 (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": [ "NOT3H", "KIAA0691", "LENG2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7879", "gene_name": "CCR4-NOT transcription complex subunit 3", "omim_gene": [ "604910" ], "alias_name": [ "NOT3 (negative regulator of transcription 3, yeast) homolog" ], "gene_symbol": "CNOT3", "hgnc_symbol": "CNOT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:54641444-54659419", "ensembl_id": "ENSG00000088038" } }, "GRch38": { "90": { "location": "19:54137728-54155681", "ensembl_id": "ENSG00000088038" } } }, "hgnc_date_symbol_changed": "1996-07-19" }, "entity_type": "gene", "entity_name": "CNOT3", "confidence_level": "2", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "31474762" ], "evidence": [ "Expert Review Amber", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Moya Moya", "Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM#\t618672" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3144, "hash_id": null, "name": "Cerebral vascular malformations", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.", "status": "public", "version": "1.12", "version_created": "2026-01-22T10:52:30.127872+11:00", "relevant_disorders": [ "Abnormal cerebral vascular morphology HP:0100659" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 1 }, "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": [] }, { "gene_data": { "alias": [ "MGC3130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28460", "gene_name": "chromosome 17 open reading frame 53", "omim_gene": null, "alias_name": null, "gene_symbol": "C17orf53", "hgnc_symbol": "C17orf53", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42219274-42239844", "ensembl_id": "ENSG00000125319" } }, "GRch38": { "90": { "location": "17:44141906-44162476", "ensembl_id": "ENSG00000125319" } } }, "hgnc_date_symbol_changed": "2005-12-15" }, "entity_type": "gene", "entity_name": "C17orf53", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "34707299", "31467087", "38105698" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ovarian dysgenesis 11, MIM# 620897" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.410", "version_created": "2026-04-06T10:52:55.877866+10:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 164, "number_of_strs": 2, "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": "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": [ "MIS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:464", "gene_name": "anti-Mullerian hormone", "omim_gene": [ "600957" ], "alias_name": null, "gene_symbol": "AMH", "hgnc_symbol": "AMH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:2249308-2252072", "ensembl_id": "ENSG00000104899" } }, "GRch38": { "90": { "location": "19:2249309-2252073", "ensembl_id": "ENSG00000104899" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "AMH", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25750103" ], "evidence": [ "Expert Review Amber", "Royal Melbourne Hospital" ], "phenotypes": [ "Primary ovarian insuffiency" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.410", "version_created": "2026-04-06T10:52:55.877866+10:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 164, "number_of_strs": 2, "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": "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4382", "gene_name": "G protein subunit alpha 14", "omim_gene": [ "604397" ], "alias_name": null, "gene_symbol": "GNA14", "hgnc_symbol": "GNA14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:80037995-80263223", "ensembl_id": "ENSG00000156049" } }, "GRch38": { "90": { "location": "9:77423079-77648307", "ensembl_id": "ENSG00000156049" } } }, "hgnc_date_symbol_changed": "1999-06-10" }, "entity_type": "gene", "entity_name": "GNA14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "31423605", "31707589", "27476652" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Tufted angioma", "vascular tumours", "Anastomosing hemangioma" ], "mode_of_inheritance": "Other", "tags": [ "somatic" ], "panel": { "id": 3181, "hash_id": null, "name": "Vascular Malformations_Somatic", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes that cause vascular malformations as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nIf a germline disorder is suspected, please use the Vascular Malformations_Germline panel.", "status": "public", "version": "1.16", "version_created": "2025-10-02T12:54:21.549968+10:00", "relevant_disorders": [ "Abnormal vascular morphology HP:0025015" ], "stats": { "number_of_genes": 25, "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": [ "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": [ "23838600", "23674064", "26395118", "26917586", "23222957", "25331754", "28624465" ], "evidence": [ "Expert Review Green", "South West GLH", "NHS GMS" ], "phenotypes": [ "Vici syndrome, 242840", "IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "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": [ "MAK", "KIAA1330", "Midori" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17574", "gene_name": "alpha kinase 3", "omim_gene": [ "617608" ], "alias_name": [ "myocyte induction differentiation originator", "muscle alpha-kinase" ], "gene_symbol": "ALPK3", "hgnc_symbol": "ALPK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:85359911-85416713", "ensembl_id": "ENSG00000136383" } }, "GRch38": { "90": { "location": "15:84816680-84873482", "ensembl_id": "ENSG00000136383" } } }, "hgnc_date_symbol_changed": "2004-12-01" }, "entity_type": "gene", "entity_name": "ALPK3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Cardiomyopathy, familial hypertrophic 27, 618052" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "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": [ "FLJ13881", "KIAA2034", "MHC16", "MYH17" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23212", "gene_name": "myosin heavy chain 14", "omim_gene": [ "608568" ], "alias_name": null, "gene_symbol": "MYH14", "hgnc_symbol": "MYH14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50691443-50813802", "ensembl_id": "ENSG00000105357" } }, "GRch38": { "90": { "location": "19:50188186-50310545", "ensembl_id": "ENSG00000105357" } } }, "hgnc_date_symbol_changed": "2003-10-15" }, "entity_type": "gene", "entity_name": "MYH14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Deafness, autosomal dominant" ], "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": [ "ISSX", "CT121", "EIEE1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18060", "gene_name": "aristaless related homeobox", "omim_gene": [ "300382" ], "alias_name": [ "cancer/testis antigen 121" ], "gene_symbol": "ARX", "hgnc_symbol": "ARX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:25021811-25034065", "ensembl_id": "ENSG00000004848" } }, "GRch38": { "90": { "location": "X:25003694-25016420", "ensembl_id": "ENSG00000004848" } } }, "hgnc_date_symbol_changed": "2002-02-11" }, "entity_type": "gene", "entity_name": "ARX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Lissencephaly, X-linked 2" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "DYT8", "PDC", "DKFZp564N1362", "FPD1", "MR-1", "BRP17", "FKSG19", "TAHCCP2", "KIAA1184", "KIPP1184", "MGC31943", "PKND1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9153", "gene_name": "paroxysmal nonkinesigenic dyskinesia", "omim_gene": [ "609023" ], "alias_name": [ "myofibrillogenesis regulator 1" ], "gene_symbol": "PNKD", "hgnc_symbol": "PNKD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:219135115-219211516", "ensembl_id": "ENSG00000127838" } }, "GRch38": { "90": { "location": "2:218270392-218346793", "ensembl_id": "ENSG00000127838" } } }, "hgnc_date_symbol_changed": "1996-09-13" }, "entity_type": "gene", "entity_name": "PNKD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Paroxysmal nonkinesiogenic dyskinesia" ], "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": [ "FLJ12847", "BRIT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6954", "gene_name": "microcephalin 1", "omim_gene": [ "607117" ], "alias_name": [ "BRCT-repeat inhibitor of TERT expression 1" ], "gene_symbol": "MCPH1", "hgnc_symbol": "MCPH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:6264113-6501144", "ensembl_id": "ENSG00000147316" } }, "GRch38": { "90": { "location": "8:6406592-6648504", "ensembl_id": "ENSG00000147316" } } }, "hgnc_date_symbol_changed": "1998-02-11" }, "entity_type": "gene", "entity_name": "MCPH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Microcephaly 1, primary, 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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11448", "gene_name": "succinate-CoA ligase ADP-forming beta subunit", "omim_gene": [ "603921" ], "alias_name": [ "succinate--CoA ligase (ADP-forming)" ], "gene_symbol": "SUCLA2", "hgnc_symbol": "SUCLA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:48510622-48612125", "ensembl_id": "ENSG00000136143" } }, "GRch38": { "90": { "location": "13:47936491-48001354", "ensembl_id": "ENSG00000136143" } } }, "hgnc_date_symbol_changed": "1998-11-11" }, "entity_type": "gene", "entity_name": "SUCLA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 20301762" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM 612073" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8654", "gene_name": "propionyl-CoA carboxylase beta subunit", "omim_gene": [ "232050" ], "alias_name": null, "gene_symbol": "PCCB", "hgnc_symbol": "PCCB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:135969148-136056738", "ensembl_id": "ENSG00000114054" } }, "GRch38": { "90": { "location": "3:136250306-136337896", "ensembl_id": "ENSG00000114054" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PCCB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Propionicacidemia 606054" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3344", "gene_name": "enamelin", "omim_gene": [ "606585" ], "alias_name": null, "gene_symbol": "ENAM", "hgnc_symbol": "ENAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:71494461-71552533", "ensembl_id": "ENSG00000132464" } }, "GRch38": { "90": { "location": "4:70628744-70686816", "ensembl_id": "ENSG00000132464" } } }, "hgnc_date_symbol_changed": "1999-05-17" }, "entity_type": "gene", "entity_name": "ENAM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33864320", "14684688", "11978766", "12407086", "20439930", "25769099", "22540999", "25143514", "22029166", "19329462", "28334996", "26502894", "17316551", "21597265", "16246937", "15723871", "11487571" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IB, MIM# 104500", "Amelogenesis imperfecta, type IC, MIM# 204650" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "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": [ "KRAS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6407", "gene_name": "KRAS proto-oncogene, GTPase", "omim_gene": [ "190070" ], "alias_name": null, "gene_symbol": "KRAS", "hgnc_symbol": "KRAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:25357723-25403870", "ensembl_id": "ENSG00000133703" } }, "GRch38": { "90": { "location": "12:25204789-25250936", "ensembl_id": "ENSG00000133703" } } }, "hgnc_date_symbol_changed": "2005-01-24" }, "entity_type": "gene", "entity_name": "KRAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "21396583", "21797849", "16474404", "16474405", "16773572", "17056636" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Noonan syndrome 3, MIM# 609942", "Cardiofaciocutaneous syndrome 2, MIM# 615278" ], "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": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11604", "gene_name": "T-box 5", "omim_gene": [ "601620" ], "alias_name": null, "gene_symbol": "TBX5", "hgnc_symbol": "TBX5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:114791736-114846247", "ensembl_id": "ENSG00000089225" } }, "GRch38": { "90": { "location": "12:114353931-114408442", "ensembl_id": "ENSG00000089225" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "TBX5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10077612", "31373354" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Holt-Oram syndrome, MIM# 142900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PMP69", "P70R", "EST352188" ], "biotype": "protein_coding", "hgnc_id": "HGNC:68", "gene_name": "ATP binding cassette subfamily D member 4", "omim_gene": [ "603214" ], "alias_name": null, "gene_symbol": "ABCD4", "hgnc_symbol": "ABCD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:74752126-74769759", "ensembl_id": "ENSG00000119688" } }, "GRch38": { "90": { "location": "14:74285423-74303056", "ensembl_id": "ENSG00000119688" } } }, "hgnc_date_symbol_changed": "1997-10-27" }, "entity_type": "gene", "entity_name": "ABCD4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22922874", "31113616", "30651581", "28572511", "33729671" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OI4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2197", "gene_name": "collagen type I alpha 1 chain", "omim_gene": [ "120150" ], "alias_name": null, "gene_symbol": "COL1A1", "hgnc_symbol": "COL1A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48260650-48278993", "ensembl_id": "ENSG00000108821" } }, "GRch38": { "90": { "location": "17:50183289-50201632", "ensembl_id": "ENSG00000108821" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL1A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12362985", "28956891" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Caffey disease, MIM#114000", "Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060", "Osteogenesis imperfecta, type I, MIM#166200", "Osteogenesis imperfecta, type II, MIM#166210", "Osteogenesis imperfecta, type III, MIM#259420", "Osteogenesis imperfecta, type IV, MIM#166220" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SNARK", "FLJ90349" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29558", "gene_name": "NUAK family kinase 2", "omim_gene": [ "608131" ], "alias_name": [ "SNF1/AMP activated protein kinase" ], "gene_symbol": "NUAK2", "hgnc_symbol": "NUAK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:205271187-205290883", "ensembl_id": "ENSG00000163545" } }, "GRch38": { "90": { "location": "1:205302059-205321791", "ensembl_id": "ENSG00000163545" } } }, "hgnc_date_symbol_changed": "2005-06-08" }, "entity_type": "gene", "entity_name": "NUAK2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22689267", "32845958" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Anencephaly 2, OMIM #619452" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0806" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20889", "gene_name": "leucine rich repeats and immunoglobulin like domains 2", "omim_gene": [ "608869" ], "alias_name": null, "gene_symbol": "LRIG2", "hgnc_symbol": "LRIG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:113615831-113674882", "ensembl_id": "ENSG00000198799" } }, "GRch38": { "90": { "location": "1:113073209-113132260", "ensembl_id": "ENSG00000198799" } } }, "hgnc_date_symbol_changed": "2003-04-25" }, "entity_type": "gene", "entity_name": "LRIG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23313374", "27855655", "30885509" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Urofacial syndrome 2 (MIM#615112)" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3179", "gene_name": "endothelin receptor type A", "omim_gene": [ "131243" ], "alias_name": null, "gene_symbol": "EDNRA", "hgnc_symbol": "EDNRA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:148402069-148466106", "ensembl_id": "ENSG00000151617" } }, "GRch38": { "90": { "location": "4:147480917-147544954", "ensembl_id": "ENSG00000151617" } } }, "hgnc_date_symbol_changed": "1992-02-13" }, "entity_type": "gene", "entity_name": "EDNRA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25772936", "27671791" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Mandibulofacial dysostosis with alopecia, MIM# 616367" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav1.2", "CACH2", "CACN2", "TS", "LQT8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1390", "gene_name": "calcium voltage-gated channel subunit alpha1 C", "omim_gene": [ "114205" ], "alias_name": null, "gene_symbol": "CACNA1C", "hgnc_symbol": "CACNA1C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:2079952-2802108", "ensembl_id": "ENSG00000151067" } }, "GRch38": { "90": { "location": "12:1970786-2697950", "ensembl_id": "ENSG00000151067" } } }, "hgnc_date_symbol_changed": "1991-01-30" }, "entity_type": "gene", "entity_name": "CACNA1C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15454078" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Timothy syndrome, MIM# 601005", "Long QT syndrome 8, MIM# 618447" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "L-SOX5", "MGC35153" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11201", "gene_name": "SRY-box 5", "omim_gene": [ "604975" ], "alias_name": null, "gene_symbol": "SOX5", "hgnc_symbol": "SOX5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:23682440-24103966", "ensembl_id": "ENSG00000134532" } }, "GRch38": { "90": { "location": "12:23529500-23951032", "ensembl_id": "ENSG00000134532" } } }, "hgnc_date_symbol_changed": "1997-07-07" }, "entity_type": "gene", "entity_name": "SOX5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31578471" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Lamb-Shaffer syndrome, MIM#616803" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RZRA", "ROR1", "ROR2", "ROR3", "NR1F1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10258", "gene_name": "RAR related orphan receptor A", "omim_gene": [ "600825" ], "alias_name": null, "gene_symbol": "RORA", "hgnc_symbol": "RORA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:60780483-61521518", "ensembl_id": "ENSG00000069667" } }, "GRch38": { "90": { "location": "15:60488284-61229319", "ensembl_id": "ENSG00000069667" } } }, "hgnc_date_symbol_changed": "1995-04-13" }, "entity_type": "gene", "entity_name": "RORA", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29656859" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:969", "gene_name": "Bardet-Biedl syndrome 4", "omim_gene": [ "600374" ], "alias_name": null, "gene_symbol": "BBS4", "hgnc_symbol": "BBS4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:72978527-73030817", "ensembl_id": "ENSG00000140463" } }, "GRch38": { "90": { "location": "15:72686179-72738476", "ensembl_id": "ENSG00000140463" } } }, "hgnc_date_symbol_changed": "1995-07-11" }, "entity_type": "gene", "entity_name": "BBS4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12016587", "11381270" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 4, MIM#615982" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3764, "hash_id": null, "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.", "status": "public", "version": "1.30", "version_created": "2026-03-18T15:16:42.995334+11:00", "relevant_disorders": [ "Obesity", "HP:0001513" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 3 }, "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": [ "HSS", "FLJ11729", "PKAN", "HARP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15894", "gene_name": "pantothenate kinase 2", "omim_gene": [ "606157" ], "alias_name": [ "Hallervorden-Spatz syndrome" ], "gene_symbol": "PANK2", "hgnc_symbol": "PANK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:3869486-3907605", "ensembl_id": "ENSG00000125779" } }, "GRch38": { "90": { "location": "20:3888839-3929882", "ensembl_id": "ENSG00000125779" } } }, "hgnc_date_symbol_changed": "2002-09-06" }, "entity_type": "gene", "entity_name": "PANK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15911822" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Neurodegeneration with brain iron accumulation 1, MIM#234200" ], "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": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "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": [ "FLJ90492", "SMILE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26899", "gene_name": "transmembrane and tetratricopeptide repeat containing 3", "omim_gene": [ "617218" ], "alias_name": null, "gene_symbol": "TMTC3", "hgnc_symbol": "TMTC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:88536073-88593664", "ensembl_id": "ENSG00000139324" } }, "GRch38": { "90": { "location": "12:88142296-88199887", "ensembl_id": "ENSG00000139324" } } }, "hgnc_date_symbol_changed": "2006-01-06" }, "entity_type": "gene", "entity_name": "TMTC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27773428", "28973161", "33293961" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lissencephaly 8 MIM#617255, MONDO:0014992" ], "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": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "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": [ "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": [ "26483087", "26494257", "27282546", "23035047", "25319849", "25500575" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498", "Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056" ], "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": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "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": [ "GSD1b", "GSD1c", "GSD1d" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4061", "gene_name": "solute carrier family 37 member 4", "omim_gene": [ "602671" ], "alias_name": null, "gene_symbol": "SLC37A4", "hgnc_symbol": "SLC37A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118894824-118901616", "ensembl_id": "ENSG00000137700" } }, "GRch38": { "90": { "location": "11:119024114-119030906", "ensembl_id": "ENSG00000137700" } } }, "hgnc_date_symbol_changed": "2003-09-10" }, "entity_type": "gene", "entity_name": "SLC37A4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33964207", "9675154", "9758626" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Glycogen storage disease Ib MIM#232220", "Glycogen storage disease Ic MIM#232240", "Glycogen Storage Disease I MONDO:0002413" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that 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": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "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": [ "NPD002", "MGC14452" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21497", "gene_name": "acyl-CoA dehydrogenase family member 9", "omim_gene": [ "611103" ], "alias_name": null, "gene_symbol": "ACAD9", "hgnc_symbol": "ACAD9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:128598439-128634910", "ensembl_id": "ENSG00000177646" } }, "GRch38": { "90": { "location": "3:128879596-128916067", "ensembl_id": "ENSG00000177646" } } }, "hgnc_date_symbol_changed": "2003-06-18" }, "entity_type": "gene", "entity_name": "ACAD9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30025539", "26475292" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that 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": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "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": [ "FLJ21816", "FANCN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26144", "gene_name": "partner and localizer of BRCA2", "omim_gene": [ "610355" ], "alias_name": [ "Fanconi anemia, complementation group N" ], "gene_symbol": "PALB2", "hgnc_symbol": "PALB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23614488-23652631", "ensembl_id": "ENSG00000083093" } }, "GRch38": { "90": { "location": "16:23603160-23641310", "ensembl_id": "ENSG00000083093" } } }, "hgnc_date_symbol_changed": "2007-01-15" }, "entity_type": "gene", "entity_name": "PALB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "PALB2-related cancer predisposition, MONDO:0700272", "Breast-ovarian cancer, familial, susceptibility to, 5, MIM#620442", "Pancreatic cancer, susceptibility to, 3, MIM#613348" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7765", "gene_name": "neurofibromin 1", "omim_gene": [ "613113" ], "alias_name": [ "neurofibromatosis", "von Recklinghausen disease", "Watson disease" ], "gene_symbol": "NF1", "hgnc_symbol": "NF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:29421945-29709134", "ensembl_id": "ENSG00000196712" } }, "GRch38": { "90": { "location": "17:31094927-31382116", "ensembl_id": "ENSG00000196712" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "NF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "Neurofibromatosis type 1, MONDO:0018975", "Neurofibromatosis, type 1, MIM#162200" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-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 breast 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": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "FLJ13265", "CCNP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25805", "gene_name": "cyclin N-terminal domain containing 2", "omim_gene": null, "alias_name": [ "cyclin P" ], "gene_symbol": "CNTD2", "hgnc_symbol": "CNTD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:40728115-40732597", "ensembl_id": "ENSG00000105219" } }, "GRch38": { "90": { "location": "19:40222208-40226690", "ensembl_id": "ENSG00000105219" } } }, "hgnc_date_symbol_changed": "2006-03-31" }, "entity_type": "gene", "entity_name": "CNTD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41005306" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Oocyte/zygote/embryo maturation arrest MONDO:0014769" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.140", "version_created": "2026-04-06T10:51:58.181866+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 264, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "CEP4L", "CT79" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14927", "gene_name": "testis specific 10", "omim_gene": [ "607166" ], "alias_name": [ "cancer/testis antigen 79" ], "gene_symbol": "TSGA10", "hgnc_symbol": "TSGA10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:99613724-99771427", "ensembl_id": "ENSG00000135951" } }, "GRch38": { "90": { "location": "2:98997261-99154964", "ensembl_id": "ENSG00000135951" } } }, "hgnc_date_symbol_changed": "2001-03-20" }, "entity_type": "gene", "entity_name": "TSGA10", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28905369" ], "evidence": [ "Literature", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.140", "version_created": "2026-04-06T10:51:58.181866+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 264, "number_of_strs": 0, "number_of_regions": 1 }, "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": [] }, { "gene_data": { "alias": [ "PAP-A", "PAPA", "PAPA1", "PAPB", "ACLS", "PPDIV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4319", "gene_name": "GLI family zinc finger 3", "omim_gene": [ "165240" ], "alias_name": [ "zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein" ], "gene_symbol": "GLI3", "hgnc_symbol": "GLI3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:42000548-42277469", "ensembl_id": "ENSG00000106571" } }, "GRch38": { "90": { "location": "7:41960950-42237870", "ensembl_id": "ENSG00000106571" } } }, "hgnc_date_symbol_changed": "1989-05-29" }, "entity_type": "gene", "entity_name": "GLI3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24736735", "15739154", "9054938 10945658 11693785" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genomics England PanelApp", "Genomics England PanelApp" ], "phenotypes": [ "Greig cephalopolysyndactyly syndrome (175700)", "Pallister-Hall syndrome (146510)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4523, "hash_id": null, "name": "Adrenal insufficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.", "status": "public", "version": "0.76", "version_created": "2026-03-19T16:21:18.336273+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5102", "gene_name": "homeobox A13", "omim_gene": [ "142959" ], "alias_name": null, "gene_symbol": "HOXA13", "hgnc_symbol": "HOXA13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:27233122-27239725", "ensembl_id": "ENSG00000106031" } }, "GRch38": { "90": { "location": "7:27193503-27200106", "ensembl_id": "ENSG00000106031" } } }, "hgnc_date_symbol_changed": "1990-07-05" }, "entity_type": "str", "entity_name": "HOXA13_HFGS_GCN3", "confidence_level": "3", "penetrance": null, "publications": [ "10839976", "12073020", "33811808" ], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "Hand-foot-uterus syndrome MIM#140000" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "GCN", "chromosome": "7", "grch37_coordinates": [ 27239298, 27239351 ], "grch38_coordinates": [ 27199679, 27199732 ], "normal_repeats": 18, "pathogenic_repeats": 24, "tags": [ "paediatric-onset" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "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": [] } } ] }