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GET /api/v1/entities/?format=api&page=185
{ "count": 36078, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=186", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=184", "results": [ { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:132", "gene_name": "actin beta", "omim_gene": [ "102630" ], "alias_name": null, "gene_symbol": "ACTB", "hgnc_symbol": "ACTB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:5566782-5603415", "ensembl_id": "ENSG00000075624" } }, "GRch38": { "90": { "location": "7:5527151-5563784", "ensembl_id": "ENSG00000075624" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ACTB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Baraitser-Winter syndrome 1, MIM#243310" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 42, "hash_id": null, "name": "Anophthalmia_Microphthalmia_Coloboma", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.57", "version_created": "2026-03-03T11:23:37.804849+11:00", "relevant_disorders": [ "Anophthalmia", "HP:0000528;Microphthalmia", "HP:0000568;Coloboma", "HP:0000589" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FIR", "SIAHBP1", "RoBPI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17042", "gene_name": "poly(U) binding splicing factor 60", "omim_gene": [ "604819" ], "alias_name": [ "siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1" ], "gene_symbol": "PUF60", "hgnc_symbol": "PUF60", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:144898514-144912029", "ensembl_id": "ENSG00000179950" } }, "GRch38": { "90": { "location": "8:143816344-143829859", "ensembl_id": "ENSG00000179950" } } }, "hgnc_date_symbol_changed": "2007-07-27" }, "entity_type": "gene", "entity_name": "PUF60", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Verheij syndrome, MIM#615583" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 42, "hash_id": null, "name": "Anophthalmia_Microphthalmia_Coloboma", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.57", "version_created": "2026-03-03T11:23:37.804849+11:00", "relevant_disorders": [ "Anophthalmia", "HP:0000528;Microphthalmia", "HP:0000568;Coloboma", "HP:0000589" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1851" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22932", "gene_name": "GDP-mannose pyrophosphorylase B", "omim_gene": [ "615320" ], "alias_name": [ "mannose-1-phosphate guanyltransferase beta" ], "gene_symbol": "GMPPB", "hgnc_symbol": "GMPPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49754277-49761384", "ensembl_id": "ENSG00000173540" } }, "GRch38": { "90": { "location": "3:49716844-49723951", "ensembl_id": "ENSG00000173540" } } }, "hgnc_date_symbol_changed": "2005-01-10" }, "entity_type": "gene", "entity_name": "GMPPB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "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": [ "HD4ST", "D4ST-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24464", "gene_name": "carbohydrate sulfotransferase 14", "omim_gene": [ "608429" ], "alias_name": null, "gene_symbol": "CHST14", "hgnc_symbol": "CHST14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40763160-40765353", "ensembl_id": "ENSG00000169105" } }, "GRch38": { "90": { "location": "15:40470998-40474571", "ensembl_id": "ENSG00000169105" } } }, "hgnc_date_symbol_changed": "2007-03-27" }, "entity_type": "gene", "entity_name": "CHST14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26373698" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ehlers-Danlos syndrome, musculocontractural type 1 (MIM#601776)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "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": [ "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": null, "publications": [ "15105459" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM#607313)" ], "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": null }, { "gene_data": { "alias": [ "DWF-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3497", "gene_name": "EvC ciliary complex subunit 1", "omim_gene": [ "604831" ], "alias_name": null, "gene_symbol": "EVC", "hgnc_symbol": "EVC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:5712924-5830772", "ensembl_id": "ENSG00000072840" } }, "GRch38": { "90": { "location": "4:5711197-5814305", "ensembl_id": "ENSG00000072840" } } }, "hgnc_date_symbol_changed": "1995-04-24" }, "entity_type": "gene", "entity_name": "EVC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ellis-van Creveld syndrome, MIM# 225500" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.535", "version_created": "2026-04-21T11:25:32.018166+10:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 254, "number_of_strs": 1, "number_of_regions": 10 }, "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": [ "DSPG2", "SLRR1B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2705", "gene_name": "decorin", "omim_gene": [ "125255" ], "alias_name": [ "decorin proteoglycan" ], "gene_symbol": "DCN", "hgnc_symbol": "DCN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:91539025-91576900", "ensembl_id": "ENSG00000011465" } }, "GRch38": { "90": { "location": "12:91140484-91183123", "ensembl_id": "ENSG00000011465" } } }, "hgnc_date_symbol_changed": "1989-07-18" }, "entity_type": "gene", "entity_name": "DCN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15671264", "16935612", "21993463", "24413633", "26828927" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Corneal dystrophy, congenital stromal, MIM# 610048" ], "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": null }, { "gene_data": { "alias": [ "DMT1", "CT154" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2934", "gene_name": "doublesex and mab-3 related transcription factor 1", "omim_gene": [ "602424" ], "alias_name": [ "DM domain expressed in testis 1" ], "gene_symbol": "DMRT1", "hgnc_symbol": "DMRT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:841690-969090", "ensembl_id": "ENSG00000137090" } }, "GRch38": { "90": { "location": "9:841690-969090", "ensembl_id": "ENSG00000137090" } } }, "hgnc_date_symbol_changed": "1998-08-13" }, "entity_type": "gene", "entity_name": "DMRT1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 31479588", "24934491", "29527098", "26005864", "28295047" ], "evidence": [ "Expert Review Green", "Expert Review Amber", "Expert list" ], "phenotypes": [ "46,XY disorder of sex development, MONDO:0020040" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": "1.52", "version_created": "2026-04-23T10:59:57.828482+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": [ "SDR12C2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5212", "gene_name": "hydroxysteroid 17-beta dehydrogenase 3", "omim_gene": [ "605573" ], "alias_name": [ "short chain dehydrogenase/reductase family 12C, member 2" ], "gene_symbol": "HSD17B3", "hgnc_symbol": "HSD17B3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:98997588-99064434", "ensembl_id": "ENSG00000130948" } }, "GRch38": { "90": { "location": "9:96235306-96302152", "ensembl_id": "ENSG00000130948" } } }, "hgnc_date_symbol_changed": "1994-09-14" }, "entity_type": "gene", "entity_name": "HSD17B3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8550739", "11158067" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pseudohermaphroditism, male, with gynecomastia MIM#264300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "1.52", "version_created": "2026-04-23T10:59:57.828482+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": [ "Ten-M3", "KIAA1455" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29944", "gene_name": "teneurin transmembrane protein 3", "omim_gene": [ "610083" ], "alias_name": null, "gene_symbol": "TENM3", "hgnc_symbol": "TENM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:183065140-183724177", "ensembl_id": "ENSG00000218336" } }, "GRch38": { "90": { "location": "4:182143987-182803024", "ensembl_id": "ENSG00000218336" } } }, "hgnc_date_symbol_changed": "2012-10-02" }, "entity_type": "gene", "entity_name": "TENM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30513139", "22766609", "27103084", "29753094" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microphthalmia, syndromic 15, MIM#615145", "coloboma" ], "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": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "FLJ14993" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13764", "gene_name": "RELT, TNF receptor", "omim_gene": [ "611211" ], "alias_name": [ "receptor expressed in lymphoid tissues" ], "gene_symbol": "RELT", "hgnc_symbol": "RELT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:73087309-73108519", "ensembl_id": "ENSG00000054967" } }, "GRch38": { "90": { "location": "11:73376264-73397474", "ensembl_id": "ENSG00000054967" } } }, "hgnc_date_symbol_changed": "2007-06-14" }, "entity_type": "gene", "entity_name": "RELT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30506946" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Amelogenesis imperfecta, type IIIC, MIM# 618386" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "TRAP", "HPAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:124", "gene_name": "acid phosphatase 5, tartrate resistant", "omim_gene": [ "171640" ], "alias_name": [ "tartrate-resistant acid phosphatase", "human purple acid phosphatase" ], "gene_symbol": "ACP5", "hgnc_symbol": "ACP5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:11685475-11689823", "ensembl_id": "ENSG00000102575" } }, "GRch38": { "90": { "location": "19:11574660-11579008", "ensembl_id": "ENSG00000102575" } } }, "hgnc_date_symbol_changed": "1989-02-23" }, "entity_type": "gene", "entity_name": "ACP5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26854080", "26951490", "21217755", "26789720", "2363422", "21217752" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944" ], "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": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "EPD", "PDE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:877", "gene_name": "aldehyde dehydrogenase 7 family member A1", "omim_gene": [ "107323" ], "alias_name": [ "antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase" ], "gene_symbol": "ALDH7A1", "hgnc_symbol": "ALDH7A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:125877533-125931110", "ensembl_id": "ENSG00000164904" } }, "GRch38": { "90": { "location": "5:126531200-126595418", "ensembl_id": "ENSG00000164904" } } }, "hgnc_date_symbol_changed": "1995-12-11" }, "entity_type": "gene", "entity_name": "ALDH7A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32969477" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epilepsy, pyridoxine-dependent, MIM# 266100" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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:1245", "gene_name": "complement C1q C chain", "omim_gene": [ "120575" ], "alias_name": null, "gene_symbol": "C1QC", "hgnc_symbol": "C1QC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:22970123-22974603", "ensembl_id": "ENSG00000159189" } }, "GRch38": { "90": { "location": "1:22643630-22648110", "ensembl_id": "ENSG00000159189" } } }, "hgnc_date_symbol_changed": "2006-02-09" }, "entity_type": "gene", "entity_name": "C1QC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21654842", "8630118", "24157463" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C1q deficiency MIM#613652" ], "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": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "Ib772", "KIAA0312", "UREB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30892", "gene_name": "HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase", "omim_gene": [ "300697" ], "alias_name": null, "gene_symbol": "HUWE1", "hgnc_symbol": "HUWE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:53559057-53713673", "ensembl_id": "ENSG00000086758" } }, "GRch38": { "90": { "location": "X:53532096-53686729", "ensembl_id": "ENSG00000086758" } } }, "hgnc_date_symbol_changed": "2005-02-01" }, "entity_type": "gene", "entity_name": "HUWE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30797980", "29180823" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "KIAA0364", "IGDC1", "IGCD1", "INHBP", "MGC75490", "PGSF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5948", "gene_name": "immunoglobulin superfamily member 1", "omim_gene": [ "300137" ], "alias_name": null, "gene_symbol": "IGSF1", "hgnc_symbol": "IGSF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:130407480-130533677", "ensembl_id": "ENSG00000147255" } }, "GRch38": { "90": { "location": "X:131273506-131578899", "ensembl_id": "ENSG00000147255" } } }, "hgnc_date_symbol_changed": "1997-10-27" }, "entity_type": "gene", "entity_name": "IGSF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27310681", "30086211", "24108313", "26840047", "27762734", "23143598" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypothyroidism, central, and testicular enlargement, MIM# 300888" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "FLJ37478", "Hcml3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26742", "gene_name": "N-acetyltransferase 8 like", "omim_gene": [ "610647" ], "alias_name": [ "Shati" ], "gene_symbol": "NAT8L", "hgnc_symbol": "NAT8L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:2061239-2070816", "ensembl_id": "ENSG00000185818" } }, "GRch38": { "90": { "location": "4:2059512-2069089", "ensembl_id": "ENSG00000185818" } } }, "hgnc_date_symbol_changed": "2006-10-24" }, "entity_type": "gene", "entity_name": "NAT8L", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11310630", "19807691", "32275776" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "N-acetylaspartate deficiency - MIM#614063" ], "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": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "CI-51K" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7716", "gene_name": "NADH:ubiquinone oxidoreductase core subunit V1", "omim_gene": [ "161015" ], "alias_name": [ "complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial" ], "gene_symbol": "NDUFV1", "hgnc_symbol": "NDUFV1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:67374323-67380006", "ensembl_id": "ENSG00000167792" } }, "GRch38": { "90": { "location": "11:67606852-67612535", "ensembl_id": "ENSG00000167792" } } }, "hgnc_date_symbol_changed": "1993-07-09" }, "entity_type": "gene", "entity_name": "NDUFV1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34807224" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 4 MIM#618225" ], "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": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "AML3", "PEBP2A1", "PEBP2aA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10472", "gene_name": "runt related transcription factor 2", "omim_gene": [ "600211" ], "alias_name": null, "gene_symbol": "RUNX2", "hgnc_symbol": "RUNX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:45295894-45632086", "ensembl_id": "ENSG00000124813" } }, "GRch38": { "90": { "location": "6:45328157-45664349", "ensembl_id": "ENSG00000124813" } } }, "hgnc_date_symbol_changed": "1994-11-02" }, "entity_type": "gene", "entity_name": "RUNX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301686" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cleidocranial dysplasia MIM#119600", "Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600", "Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600", "Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510" ], "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": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "humS6PKh1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10439", "gene_name": "ribosomal protein S6 kinase C1", "omim_gene": [ "617517" ], "alias_name": null, "gene_symbol": "RPS6KC1", "hgnc_symbol": "RPS6KC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:213224589-213448116", "ensembl_id": "ENSG00000136643" } }, "GRch38": { "90": { "location": "1:213051233-213274773", "ensembl_id": "ENSG00000136643" } } }, "hgnc_date_symbol_changed": "1999-12-14" }, "entity_type": "gene", "entity_name": "RPS6KC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41130203" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460" ], "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": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "HRG", "NDF", "GGF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7997", "gene_name": "neuregulin 1", "omim_gene": [ "142445" ], "alias_name": null, "gene_symbol": "NRG1", "hgnc_symbol": "NRG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:31496902-32622548", "ensembl_id": "ENSG00000157168" } }, "GRch38": { "90": { "location": "8:31639386-32767959", "ensembl_id": "ENSG00000157168" } } }, "hgnc_date_symbol_changed": "1999-03-19" }, "entity_type": "gene", "entity_name": "NRG1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22574178", "21706185", "28190554", "33421311", "31240788", "35485770" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Hirschsprung disease, susceptibility (MONDO:0100179), NRG1-related", "Peripheral neuropathy MONDO:0005244" ], "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": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "FLJ00141", "LL5a", "KIAA0638" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23697", "gene_name": "pleckstrin homology like domain family B member 1", "omim_gene": [ "612834" ], "alias_name": null, "gene_symbol": "PHLDB1", "hgnc_symbol": "PHLDB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118477155-118528741", "ensembl_id": "ENSG00000019144" } }, "GRch38": { "90": { "location": "11:118606440-118658038", "ensembl_id": "ENSG00000019144" } } }, "hgnc_date_symbol_changed": "2004-01-12" }, "entity_type": "gene", "entity_name": "PHLDB1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36543534" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Osteogenesis imperfecta, type XXIII, MIM# 620639" ], "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": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "MGC3180" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23136", "gene_name": "sodium channel modifier 1", "omim_gene": [ "608095" ], "alias_name": null, "gene_symbol": "SCNM1", "hgnc_symbol": "SCNM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:151129140-151142773", "ensembl_id": "ENSG00000163156" } }, "GRch38": { "90": { "location": "1:151156664-151170297", "ensembl_id": "ENSG00000163156" } } }, "hgnc_date_symbol_changed": "2003-09-16" }, "entity_type": "gene", "entity_name": "SCNM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36084634" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Orofaciodigital syndrome XIX, MIM# 620107" ], "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": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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:53647", "gene_name": "leishmanolysin like peptidase 2", "omim_gene": null, "alias_name": null, "gene_symbol": "AL117258.1", "hgnc_symbol": "LMLN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch38": { "90": { "location": "14:23099065-23104992", "ensembl_id": "ENSG00000283654" } } }, "hgnc_date_symbol_changed": "2017-08-11" }, "entity_type": "gene", "entity_name": "AL117258.1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34903892" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Heterotaxy MONDO:0018677, congenital heart defects" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "SHOT", "OG12X", "OG12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10854", "gene_name": "short stature homeobox 2", "omim_gene": [ "602504" ], "alias_name": null, "gene_symbol": "SHOX2", "hgnc_symbol": "SHOX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:157814948-157824292", "ensembl_id": "ENSG00000168779" } }, "GRch38": { "90": { "location": "3:158095954-158106503", "ensembl_id": "ENSG00000168779" } } }, "hgnc_date_symbol_changed": "1998-06-05" }, "entity_type": "gene", "entity_name": "SHOX2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30443179" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Sinus Node Dysfunction", "Atrial Fibrillation" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4788", "version_created": "2026-04-25T18:32:26.912564+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "KIAA0424", "PEM-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14561", "gene_name": "Cdc42 guanine nucleotide exchange factor 9", "omim_gene": [ "300429" ], "alias_name": [ "collybistin" ], "gene_symbol": "ARHGEF9", "hgnc_symbol": "ARHGEF9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:62854847-63005426", "ensembl_id": "ENSG00000131089" } }, "GRch38": { "90": { "location": "X:63634967-63809274", "ensembl_id": "ENSG00000131089" } } }, "hgnc_date_symbol_changed": "2001-02-06" }, "entity_type": "gene", "entity_name": "ARHGEF9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31942680", "30048823", "29130122", "28620718" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 8, MIM# 300607" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "DDBB", "UV-DDB2", "FLJ34321", "XPE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2718", "gene_name": "damage specific DNA binding protein 2", "omim_gene": [ "600811" ], "alias_name": [ "xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit" ], "gene_symbol": "DDB2", "hgnc_symbol": "DDB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47236493-47260767", "ensembl_id": "ENSG00000134574" } }, "GRch38": { "90": { "location": "11:47214465-47239240", "ensembl_id": "ENSG00000134574" } } }, "hgnc_date_symbol_changed": "1995-07-06" }, "entity_type": "gene", "entity_name": "DDB2", "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": 152, "hash_id": null, "name": "Cancer Predisposition_Paediatric", "disease_group": "Cancer", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.133", "version_created": "2026-01-12T09:35:45.797477+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 106, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CK6C", "K6C", "CK6D", "K6D" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6443", "gene_name": "keratin 6A", "omim_gene": [ "148041" ], "alias_name": null, "gene_symbol": "KRT6A", "hgnc_symbol": "KRT6A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52880958-52887041", "ensembl_id": "ENSG00000205420" } }, "GRch38": { "90": { "location": "12:52487174-52493257", "ensembl_id": "ENSG00000205420" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "KRT6A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "21326300" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pachyonychia congenita 3 (MIM#615726)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NAG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7632", "gene_name": "N-acetyl-alpha-glucosaminidase", "omim_gene": [ "609701" ], "alias_name": [ "Sanfilippo disease IIIB" ], "gene_symbol": "NAGLU", "hgnc_symbol": "NAGLU", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40688190-40696467", "ensembl_id": "ENSG00000108784" } }, "GRch38": { "90": { "location": "17:42536172-42544449", "ensembl_id": "ENSG00000108784" } } }, "hgnc_date_symbol_changed": "1995-09-15" }, "entity_type": "gene", "entity_name": "NAGLU", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25818867", "8650226" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920", "MONDO:0009656", "Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491", "MONDO:0014665" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 181, "hash_id": null, "name": "Lysosomal Storage Disorder", "disease_group": "Metabolic conditions", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.", "status": "public", "version": "1.31", "version_created": "2026-03-31T16:05:25.488597+11:00", "relevant_disorders": [ "Lysosomal storage disorder", "MONDO:0002561; Visceromegaly", "HP:0003271" ], "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2861", "gene_name": "dihydrofolate reductase", "omim_gene": [ "126060" ], "alias_name": null, "gene_symbol": "DHFR", "hgnc_symbol": "DHFR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:79922047-79950802", "ensembl_id": "ENSG00000228716" } }, "GRch38": { "90": { "location": "5:80626228-80654983", "ensembl_id": "ENSG00000228716" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "DHFR", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21310276", "21310277" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839" ], "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": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "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": [ "Wwp4", "FLJ31290", "PRO1741", "BM-016", "MGC10753" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17327", "gene_name": "WW domain containing adaptor with coiled-coil", "omim_gene": [ "615049" ], "alias_name": null, "gene_symbol": "WAC", "hgnc_symbol": "WAC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:28821422-28912041", "ensembl_id": "ENSG00000095787" } }, "GRch38": { "90": { "location": "10:28532493-28623112", "ensembl_id": "ENSG00000095787" } } }, "hgnc_date_symbol_changed": "2004-01-22" }, "entity_type": "gene", "entity_name": "WAC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36420948" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Desanto-Shinawi syndrome MIM#616708" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "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": [ "PRSMG1", "GCPL1", "OSGEP1", "KAE1", "TCS3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18028", "gene_name": "O-sialoglycoprotein endopeptidase", "omim_gene": [ "610107" ], "alias_name": null, "gene_symbol": "OSGEP", "hgnc_symbol": "OSGEP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:20914570-20923264", "ensembl_id": "ENSG00000092094" } }, "GRch38": { "90": { "location": "14:20446411-20455105", "ensembl_id": "ENSG00000092094" } } }, "hgnc_date_symbol_changed": "2002-01-23" }, "entity_type": "gene", "entity_name": "OSGEP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 28805828", "33333793" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Galloway-Mowat syndrome 3, MIM#617729" ], "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": "1.410", "version_created": "2026-04-24T13:36:55.078812+10:00", "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": [ "STAT113" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11363", "gene_name": "signal transducer and activator of transcription 2", "omim_gene": [ "600556" ], "alias_name": null, "gene_symbol": "STAT2", "hgnc_symbol": "STAT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:56735381-56753939", "ensembl_id": "ENSG00000170581" } }, "GRch38": { "90": { "location": "12:56341597-56360155", "ensembl_id": "ENSG00000170581" } } }, "hgnc_date_symbol_changed": "1995-11-08" }, "entity_type": "gene", "entity_name": "STAT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23391734", "26122121" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Immunodeficiency 44, MIM# 616636" ], "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": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC133129", "OXA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8526", "gene_name": "OXA1L, mitochondrial inner membrane protein", "omim_gene": [ "601066" ], "alias_name": null, "gene_symbol": "OXA1L", "hgnc_symbol": "OXA1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23235731-23241007", "ensembl_id": "ENSG00000155463" } }, "GRch38": { "90": { "location": "14:22766522-22773041", "ensembl_id": "ENSG00000155463" } } }, "hgnc_date_symbol_changed": "1995-09-20" }, "entity_type": "gene", "entity_name": "OXA1L", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30201738" ], "evidence": [ "Expert Review Amber", "Expert Review Amber", "NHS GMS", "NHS GMS" ], "phenotypes": [ "OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732" ], "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": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DAP13", "B17.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23987", "gene_name": "NADH:ubiquinone oxidoreductase subunit A12", "omim_gene": [ "614530" ], "alias_name": [ "complex I B17.2 subunit" ], "gene_symbol": "NDUFA12", "hgnc_symbol": "NDUFA12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:95290831-95397546", "ensembl_id": "ENSG00000184752" } }, "GRch38": { "90": { "location": "12:94897055-95003770", "ensembl_id": "ENSG00000184752" } } }, "hgnc_date_symbol_changed": "2005-07-19" }, "entity_type": "gene", "entity_name": "NDUFA12", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21617257", "33715266" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 23 618244" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [ "H_DJ0042M02.9", "HNPCC4", "MLH4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9122", "gene_name": "PMS1 homolog 2, 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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": "1.756", "version_created": "2026-04-24T13:54:47.562690+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ38614", "DKFZp547I1315", "DKFZp781D1727", "DKFZp686E01200" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1917", "gene_name": "chromodomain helicase DNA binding protein 2", "omim_gene": [ "602119" ], "alias_name": null, "gene_symbol": "CHD2", "hgnc_symbol": "CHD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:93426526-93571237", "ensembl_id": "ENSG00000173575" } }, "GRch38": { "90": { "location": "15:92900189-93028005", "ensembl_id": "ENSG00000173575" } } }, "hgnc_date_symbol_changed": "1998-03-20" }, "entity_type": "gene", "entity_name": "CHD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26677509" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Developmental and epileptic encephalopathy 94, MIM# 615369" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.756", "version_created": "2026-04-24T13:54:47.562690+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5005", "gene_name": "3-hydroxymethyl-3-methylglutaryl-CoA lyase", "omim_gene": [ "613898" ], "alias_name": [ "hydroxymethylglutaricaciduria" ], "gene_symbol": "HMGCL", "hgnc_symbol": "HMGCL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24128375-24165110", "ensembl_id": "ENSG00000117305" } }, "GRch38": { "90": { "location": "1:23801885-23838620", "ensembl_id": "ENSG00000117305" } } }, "hgnc_date_symbol_changed": "1993-12-13" }, "entity_type": "gene", "entity_name": "HMGCL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "36771238", "35646072" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "3-hydroxy-3-methylglutaric aciduria MONDO:0009520" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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": "1.756", "version_created": "2026-04-24T13:54:47.562690+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dJ482C21.1", "NET25" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21244", "gene_name": "LEM domain containing 2", "omim_gene": [ "616312" ], "alias_name": null, "gene_symbol": "LEMD2", "hgnc_symbol": "LEMD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33738979-33756913", "ensembl_id": "ENSG00000161904" } }, "GRch38": { "90": { "location": "6:33771202-33789136", "ensembl_id": "ENSG00000161904" } } }, "hgnc_date_symbol_changed": "2003-05-29" }, "entity_type": "gene", "entity_name": "LEMD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38757373", "37867468", "30905398" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Marbach-Rustad progeroid syndrome MONDO:0859147" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "trnG" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7486", "gene_name": "mitochondrially encoded tRNA glycine", "omim_gene": [ "590035" ], "alias_name": null, "gene_symbol": "MT-TG", "hgnc_symbol": "MT-TG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:9991-10058", "ensembl_id": "ENSG00000210164" } }, "GRch38": { "90": { "location": "MT:9991-10058", "ensembl_id": "ENSG00000210164" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8079988", "9199564", "11971101", "16120360", "32337339", "35432167", "10090480" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TG-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:25186", "gene_name": "transmembrane protein 240", "omim_gene": [ "616101" ], "alias_name": null, "gene_symbol": "TMEM240", "hgnc_symbol": "TMEM240", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:1470554-1475833", "ensembl_id": "ENSG00000205090" } }, "GRch38": { "90": { "location": "1:1535174-1540453", "ensembl_id": "ENSG00000205090" } } }, "hgnc_date_symbol_changed": "2011-11-25" }, "entity_type": "gene", "entity_name": "TMEM240", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25070513" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 21, MIM#\t607454" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0760", "OAZ", "Roaz", "Ebfaz", "Zfp104", "NPHP14", "JBTS19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16762", "gene_name": "zinc finger protein 423", "omim_gene": [ "604557" ], "alias_name": [ "OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein" ], "gene_symbol": "ZNF423", "hgnc_symbol": "ZNF423", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:49521435-49891830", "ensembl_id": "ENSG00000102935" } }, "GRch38": { "90": { "location": "16:49487524-49857919", "ensembl_id": "ENSG00000102935" } } }, "hgnc_date_symbol_changed": "2004-04-06" }, "entity_type": "gene", "entity_name": "ZNF423", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Expert Review Red", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nephronophthisis 14" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "bA204B7.2", "EPM2B", "malin" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21576", "gene_name": "NHL repeat containing E3 ubiquitin protein ligase 1", "omim_gene": [ "608072" ], "alias_name": [ "epilepsy, progressive myoclonus type 2B" ], "gene_symbol": "NHLRC1", "hgnc_symbol": "NHLRC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:18120718-18122851", "ensembl_id": "ENSG00000187566" } }, "GRch38": { "90": { "location": "6:18120440-18122687", "ensembl_id": "ENSG00000187566" } } }, "hgnc_date_symbol_changed": "2003-10-06" }, "entity_type": "gene", "entity_name": "NHLRC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Progressive myoclonic epilepsy 2B, Lafora, 254780", "Epilepsy, progressive myoclonic 2B (Lafora) 254780" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CGI-92" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19693", "gene_name": "coenzyme Q4", "omim_gene": [ "612898" ], "alias_name": null, "gene_symbol": "COQ4", "hgnc_symbol": "COQ4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131084815-131096351", "ensembl_id": "ENSG00000167113" } }, "GRch38": { "90": { "location": "9:128322536-128334072", "ensembl_id": "ENSG00000167113" } } }, "hgnc_date_symbol_changed": "2003-01-10" }, "entity_type": "gene", "entity_name": "COQ4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30225196", "33704555", "30847826" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 7, MIM# 616276", "Childhood-onset ataxia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GPRK1", "RK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10013", "gene_name": "G protein-coupled receptor kinase 1", "omim_gene": [ "180381" ], "alias_name": null, "gene_symbol": "GRK1", "hgnc_symbol": "GRK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:114321470-114440708", "ensembl_id": "ENSG00000185974" } }, "GRch38": { "90": { "location": "13:113667155-113737735", "ensembl_id": "ENSG00000185974" } } }, "hgnc_date_symbol_changed": "2004-03-24" }, "entity_type": "gene", "entity_name": "GRK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17070587", "33252155" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Oguchi disease-2, 613411" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 283, "hash_id": null, "name": "Congenital Stationary Night Blindness", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.24", "version_created": "2026-01-09T18:46:33.929328+11:00", "relevant_disorders": [ "Congenital stationary night blindness", "HP:0007642; Retinal dystrophy", "HP:0000556" ], "stats": { "number_of_genes": 21, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5033", "gene_name": "heterogeneous nuclear ribonucleoprotein A2/B1", "omim_gene": [ "600124" ], "alias_name": null, "gene_symbol": "HNRNPA2B1", "hgnc_symbol": "HNRNPA2B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:26229547-26241149", "ensembl_id": "ENSG00000122566" } }, "GRch38": { "90": { "location": "7:26189927-26201529", "ensembl_id": "ENSG00000122566" } } }, "hgnc_date_symbol_changed": "2007-08-16" }, "entity_type": "gene", "entity_name": "HNRNPA2B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23455423", "30279180", "29358076", "26744327", "23635965", "35484142" ], "evidence": [ "Expert Review Green", "Literature", "Literature", "Royal Melbourne Hospital" ], "phenotypes": [ "oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "KIAA1762", "KIAA1056", "ZFH-5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20152", "gene_name": "zinc finger homeobox 2", "omim_gene": null, "alias_name": null, "gene_symbol": "ZFHX2", "hgnc_symbol": "ZFHX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23990066-24025401", "ensembl_id": "ENSG00000136367" } }, "GRch38": { "90": { "location": "14:23520855-23556192", "ensembl_id": "ENSG00000136367" } } }, "hgnc_date_symbol_changed": "2002-12-18" }, "entity_type": "gene", "entity_name": "ZFHX2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29253101" ], "evidence": [ "Literature", "Literature" ], "phenotypes": [ "congenital insensitivity to pain syndrome, Marsili type MONDO:0958106" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12605", "gene_name": "clarin 1", "omim_gene": [ "606397" ], "alias_name": null, "gene_symbol": "CLRN1", "hgnc_symbol": "CLRN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:150643950-150690786", "ensembl_id": "ENSG00000163646" } }, "GRch38": { "90": { "location": "3:150926163-150972999", "ensembl_id": "ENSG00000163646" } } }, "hgnc_date_symbol_changed": "2006-11-23" }, "entity_type": "gene", "entity_name": "CLRN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Usher syndrome, type 3A, 276902 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8653", "gene_name": "propionyl-CoA carboxylase alpha subunit", "omim_gene": [ "232000" ], "alias_name": null, "gene_symbol": "PCCA", "hgnc_symbol": "PCCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:100741269-101182686", "ensembl_id": "ENSG00000175198" } }, "GRch38": { "90": { "location": "13:100089015-100530437", "ensembl_id": "ENSG00000175198" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PCCA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Propionicacidemia, 606054 (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": [ "HMSNIB", "CMT2I", "CMT2J" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7225", "gene_name": "myelin protein zero", "omim_gene": [ "159440" ], "alias_name": null, "gene_symbol": "MPZ", "hgnc_symbol": "MPZ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:161274525-161279762", "ensembl_id": "ENSG00000158887" } }, "GRch38": { "90": { "location": "1:161304735-161309972", "ensembl_id": "ENSG00000158887" } } }, "hgnc_date_symbol_changed": "1990-04-27" }, "entity_type": "gene", "entity_name": "MPZ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Dejerine-Sottas disease, 145900 (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": [ "MOCOD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7190", "gene_name": "molybdenum cofactor synthesis 1", "omim_gene": [ "603707" ], "alias_name": null, "gene_symbol": "MOCS1", "hgnc_symbol": "MOCS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:39867354-39902290", "ensembl_id": "ENSG00000124615" } }, "GRch38": { "90": { "location": "6:39899578-39934551", "ensembl_id": "ENSG00000124615" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "MOCS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Molybdenum cofactor deficiency A, 252150 (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": [ "CYP11BL", "CPN2", "P-450C18", "P450aldo", "ALDOS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2592", "gene_name": "cytochrome P450 family 11 subfamily B member 2", "omim_gene": [ "124080" ], "alias_name": [ "steroid 11-beta-monooxygenase" ], "gene_symbol": "CYP11B2", "hgnc_symbol": "CYP11B2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:143991975-143999259", "ensembl_id": "ENSG00000179142" } }, "GRch38": { "90": { "location": "8:142910559-142917843", "ensembl_id": "ENSG00000179142" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CYP11B2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (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": [ "Cav2.1", "EA2", "APCA", "HPCA", "FHM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1388", "gene_name": "calcium voltage-gated channel subunit alpha1 A", "omim_gene": [ "601011" ], "alias_name": null, "gene_symbol": "CACNA1A", "hgnc_symbol": "CACNA1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:13317256-13734804", "ensembl_id": "ENSG00000141837" } }, "GRch38": { "90": { "location": "19:13206442-13633025", "ensembl_id": "ENSG00000141837" } } }, "hgnc_date_symbol_changed": "1996-06-18" }, "entity_type": "gene", "entity_name": "CACNA1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Episodic ataxia, type 2" ], "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": [ "P5CS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9722", "gene_name": "aldehyde dehydrogenase 18 family member A1", "omim_gene": [ "138250" ], "alias_name": null, "gene_symbol": "ALDH18A1", "hgnc_symbol": "ALDH18A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:97365696-97416463", "ensembl_id": "ENSG00000059573" } }, "GRch38": { "90": { "location": "10:95605929-95656706", "ensembl_id": "ENSG00000059573" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "gene", "entity_name": "ALDH18A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Cutis laxa, autosomal recessive, type IIIA" ], "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": [ "S24" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10411", "gene_name": "ribosomal protein S24", "omim_gene": [ "602412" ], "alias_name": null, "gene_symbol": "RPS24", "hgnc_symbol": "RPS24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:79793518-79816570", "ensembl_id": "ENSG00000138326" } }, "GRch38": { "90": { "location": "10:78033760-78056812", "ensembl_id": "ENSG00000138326" } } }, "hgnc_date_symbol_changed": "1990-08-22" }, "entity_type": "gene", "entity_name": "RPS24", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Diamond-Blackfan anemia" ], "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": [ "CMG2", "CMG-2", "FLJ31074" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21732", "gene_name": "anthrax toxin receptor 2", "omim_gene": [ "608041" ], "alias_name": [ "capillary morphogenesis protein 2" ], "gene_symbol": "ANTXR2", "hgnc_symbol": "ANTXR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:80822303-81046608", "ensembl_id": "ENSG00000163297" } }, "GRch38": { "90": { "location": "4:79901149-80125454", "ensembl_id": "ENSG00000163297" } } }, "hgnc_date_symbol_changed": "2003-09-25" }, "entity_type": "gene", "entity_name": "ANTXR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Hyaline fibromatosis syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20277", "MGAT1.2", "LGMD2O" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19139", "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)", "omim_gene": [ "606822" ], "alias_name": [ "protein O-mannose beta-1,2-N-acetylglucosaminyltransferase" ], "gene_symbol": "POMGNT1", "hgnc_symbol": "POMGNT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:46654354-46685977", "ensembl_id": "ENSG00000085998" } }, "GRch38": { "90": { "location": "1:46188682-46220305", "ensembl_id": "ENSG00000085998" } } }, "hgnc_date_symbol_changed": "2005-06-02" }, "entity_type": "gene", "entity_name": "POMGNT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3", "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)" ], "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": [ "G6PD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4057", "gene_name": "glucose-6-phosphate dehydrogenase", "omim_gene": [ "305900" ], "alias_name": null, "gene_symbol": "G6PD", "hgnc_symbol": "G6PD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153759606-153775787", "ensembl_id": "ENSG00000160211" } }, "GRch38": { "90": { "location": "X:154531391-154547572", "ensembl_id": "ENSG00000160211" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "G6PD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Glucose-6-phosphate dehydrogenase deficiency" ], "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": [ "BHD", "MGC17998", "MGC23445" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27310", "gene_name": "folliculin", "omim_gene": [ "607273" ], "alias_name": null, "gene_symbol": "FLCN", "hgnc_symbol": "FLCN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:17115526-17140502", "ensembl_id": "ENSG00000154803" } }, "GRch38": { "90": { "location": "17:17212212-17237188", "ensembl_id": "ENSG00000154803" } } }, "hgnc_date_symbol_changed": "2004-08-05" }, "entity_type": "gene", "entity_name": "FLCN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Birt-Hogg-Dube syndrome" ], "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": [ "DPPX", "DPL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3010", "gene_name": "dipeptidyl peptidase like 6", "omim_gene": [ "126141" ], "alias_name": null, "gene_symbol": "DPP6", "hgnc_symbol": "DPP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:153584182-154685995", "ensembl_id": "ENSG00000130226" } }, "GRch38": { "90": { "location": "7:153887097-154894285", "ensembl_id": "ENSG00000130226" } } }, "hgnc_date_symbol_changed": "1993-02-11" }, "entity_type": "gene", "entity_name": "DPP6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Ventricular fibrillation, paroxysmal familial, 2" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12637", "gene_name": "lysine demethylase 6A", "omim_gene": [ "300128" ], "alias_name": null, "gene_symbol": "KDM6A", "hgnc_symbol": "KDM6A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:44732757-44971847", "ensembl_id": "ENSG00000147050" } }, "GRch38": { "90": { "location": "X:44873177-45112602", "ensembl_id": "ENSG00000147050" } } }, "hgnc_date_symbol_changed": "2009-04-17" }, "entity_type": "gene", "entity_name": "KDM6A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24664873", "22197486", "23076834" ], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "UKGTN", "Emory Genetics Laboratory", "Expert Review" ], "phenotypes": [ "Kabuki syndrome 2, 300867" ], "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": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C(27)-3BETA-HSD", "SDR11E3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18324", "gene_name": "hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7", "omim_gene": [ "607764" ], "alias_name": [ "short chain dehydrogenase/reductase family 11E, member 3" ], "gene_symbol": "HSD3B7", "hgnc_symbol": "HSD3B7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:30996519-31000473", "ensembl_id": "ENSG00000099377" } }, "GRch38": { "90": { "location": "16:30985207-30989152", "ensembl_id": "ENSG00000099377" } } }, "hgnc_date_symbol_changed": "2003-01-13" }, "entity_type": "gene", "entity_name": "HSD3B7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "12679481", "11067870" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Bile acid synthesis defect, congenital, 1, MIM#\t607765" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3400, "hash_id": null, "name": "Liver Failure_Paediatric", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.", "status": "public", "version": "1.33", "version_created": "2026-01-08T17:48:33.703909+11:00", "relevant_disorders": [ "Liver failure", "HP:0001399" ], "stats": { "number_of_genes": 68, "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11573", "gene_name": "tyrosine aminotransferase", "omim_gene": [ "613018" ], "alias_name": null, "gene_symbol": "TAT", "hgnc_symbol": "TAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:71599563-71611033", "ensembl_id": "ENSG00000198650" } }, "GRch38": { "90": { "location": "16:71565660-71577130", "ensembl_id": "ENSG00000198650" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Tyrosinemia, type II, MIM#\t276600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "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": [ "EAAC1", "EAAT3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10939", "gene_name": "solute carrier family 1 member 1", "omim_gene": [ "133550" ], "alias_name": null, "gene_symbol": "SLC1A1", "hgnc_symbol": "SLC1A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:4490444-4587469", "ensembl_id": "ENSG00000106688" } }, "GRch38": { "90": { "location": "9:4490444-4587469", "ensembl_id": "ENSG00000106688" } } }, "hgnc_date_symbol_changed": "1994-02-15" }, "entity_type": "gene", "entity_name": "SLC1A1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21123949" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Dicarboxylic aminoaciduria, MIM#222730" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "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": [ "PUNP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7892", "gene_name": "purine nucleoside phosphorylase", "omim_gene": [ "164050" ], "alias_name": null, "gene_symbol": "PNP", "hgnc_symbol": "PNP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:20937113-20945253", "ensembl_id": "ENSG00000198805" } }, "GRch38": { "90": { "location": "14:20468954-20477094", "ensembl_id": "ENSG00000198805" } } }, "hgnc_date_symbol_changed": "2009-12-02" }, "entity_type": "gene", "entity_name": "PNP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "3029074", "1384322", "11453975", "32695102", "32514656" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#\t613179" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "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": [ "APRF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11364", "gene_name": "signal transducer and activator of transcription 3", "omim_gene": [ "102582" ], "alias_name": null, "gene_symbol": "STAT3", "hgnc_symbol": "STAT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40465342-40540586", "ensembl_id": "ENSG00000168610" } }, "GRch38": { "90": { "location": "17:42313324-42388568", "ensembl_id": "ENSG00000168610" } } }, "hgnc_date_symbol_changed": "1995-11-08" }, "entity_type": "gene", "entity_name": "STAT3", "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": [ "25349174", "25038750", "25359994" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952", "Lymphoproliferation", "solid organ autoimmunity", "growth failure", "recurrent infections", "short stature", "IUGR", "eczema", "delayed puberty", "dental abnormalities", "autoimmune interstitial lung disease", "juvenile-onset arthritis", "primary hypothyroidism" ], "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": "1.103", "version_created": "2026-04-22T15:49:55.410983+10:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RPD3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13315", "gene_name": "histone deacetylase 8", "omim_gene": [ "300269" ], "alias_name": null, "gene_symbol": "HDAC8", "hgnc_symbol": "HDAC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:71549366-71792953", "ensembl_id": "ENSG00000147099" } }, "GRch38": { "90": { "location": "X:72329516-72573103", "ensembl_id": "ENSG00000147099" } } }, "hgnc_date_symbol_changed": "2002-09-06" }, "entity_type": "gene", "entity_name": "HDAC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Wilson-Turner syndrome 309585", "Cornelia de Lange syndrome 5 300882" ], "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": 3729, "hash_id": null, "name": "Hand and foot malformations", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.", "status": "public", "version": "0.89", "version_created": "2026-04-07T13:49:34.993963+10:00", "relevant_disorders": [ "Abnormal hand morphology", "HP:0005922; Abnormal foot morphology", "HP:0001760" ], "stats": { "number_of_genes": 101, "number_of_strs": 1, "number_of_regions": 5 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ADTB3A", "HPS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:566", "gene_name": "adaptor related protein complex 3 beta 1 subunit", "omim_gene": [ "603401" ], "alias_name": null, "gene_symbol": "AP3B1", "hgnc_symbol": "AP3B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:77296349-77590579", "ensembl_id": "ENSG00000132842" } }, "GRch38": { "90": { "location": "5:78000525-78294755", "ensembl_id": "ENSG00000132842" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "AP3B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10024875", "11809908", "14566336" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS Genomic Medicine Service", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hermansky-Pudlak syndrome 2, MIM# 608233", "MONDO:0011997" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "clinical trial" ], "panel": { "id": 3762, "hash_id": null, "name": "Congenital nystagmus", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.", "status": "public", "version": "1.24", "version_created": "2026-01-26T13:26:36.043723+11:00", "relevant_disorders": [ "Nystagmus HP:0000639" ], "stats": { "number_of_genes": 84, "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": [ "EST140535", "Atm1p", "ASAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:48", "gene_name": "ATP binding cassette subfamily B member 7", "omim_gene": [ "300135" ], "alias_name": null, "gene_symbol": "ABCB7", "hgnc_symbol": "ABCB7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:74273115-74376567", "ensembl_id": "ENSG00000131269" } }, "GRch38": { "90": { "location": "X:75053172-75156732", "ensembl_id": "ENSG00000131269" } } }, "hgnc_date_symbol_changed": "1997-09-12" }, "entity_type": "gene", "entity_name": "ABCB7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Anaemia, sideroblastic, with ataxia, MIM# 301310" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AMN", "ALDP", "adrenoleukodystrophy" ], "biotype": "protein_coding", "hgnc_id": "HGNC:61", "gene_name": "ATP binding cassette subfamily D member 1", "omim_gene": [ "300371" ], "alias_name": null, "gene_symbol": "ABCD1", "hgnc_symbol": "ABCD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:152990323-153010216", "ensembl_id": "ENSG00000101986" } }, "GRch38": { "90": { "location": "X:153724868-153744762", "ensembl_id": "ENSG00000101986" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ABCD1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Adrenoleukodystrophy, MIM# 300100" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ACHP", "FLJ11665", "ZRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13243", "gene_name": "limb development membrane protein 1", "omim_gene": [ "605522" ], "alias_name": null, "gene_symbol": "LMBR1", "hgnc_symbol": "LMBR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:156461646-156685924", "ensembl_id": "ENSG00000105983" } }, "GRch38": { "90": { "location": "7:156668946-156893230", "ensembl_id": "ENSG00000105983" } } }, "hgnc_date_symbol_changed": "2005-07-25" }, "entity_type": "gene", "entity_name": "LMBR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Laurin-Sandrow syndrome, MIM# 135750", "Polydactyly, preaxial type II 174500", "Triphalangeal thumb, type I, MIM# 174500", "Syndactyly, type IV, MIM# 186200", "Acheiropody, MIM# 200500", "Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500", "Hypoplastic or aplastic tibia with polydactyly, MIM# 188740" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FGE", "UNQ3037" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20376", "gene_name": "sulfatase modifying factor 1", "omim_gene": [ "607939" ], "alias_name": null, "gene_symbol": "SUMF1", "hgnc_symbol": "SUMF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:3742498-4508965", "ensembl_id": "ENSG00000144455" } }, "GRch38": { "90": { "location": "3:3700814-4467281", "ensembl_id": "ENSG00000144455" } } }, "hgnc_date_symbol_changed": "2004-04-30" }, "entity_type": "gene", "entity_name": "SUMF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31497481" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert list", "Expert list" ], "phenotypes": [ "Multiple sulfatase deficiency, MIM# 272200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11834", "gene_name": "transketolase", "omim_gene": [ "606781" ], "alias_name": [ "Wernicke-Korsakoff syndrome" ], "gene_symbol": "TKT", "hgnc_symbol": "TKT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:53258723-53290068", "ensembl_id": "ENSG00000163931" } }, "GRch38": { "90": { "location": "3:53224707-53256052", "ensembl_id": "ENSG00000163931" } } }, "hgnc_date_symbol_changed": "1992-06-10" }, "entity_type": "gene", "entity_name": "TKT", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27259054" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Short stature, developmental delay, and congenital heart defects", "OMIM #617044" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MCI", "IDAS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:40050", "gene_name": "multiciliate differentiation and DNA synthesis associated cell cycle protein", "omim_gene": [ "614086" ], "alias_name": [ "multicilin" ], "gene_symbol": "MCIDAS", "hgnc_symbol": "MCIDAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:54515442-54523143", "ensembl_id": "ENSG00000234602" } }, "GRch38": { "90": { "location": "5:55219614-55227315", "ensembl_id": "ENSG00000234602" } } }, "hgnc_date_symbol_changed": "2013-02-28" }, "entity_type": "gene", "entity_name": "MCIDAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32802948", "25048963", "30237576" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hydrocephalus", "Arachnoid cyst", "Choroid plexus hyperplasia", "Ciliary dyskinesia, primary, 42 - #618695" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "APP3", "NPHPL1", "ICP55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28052", "gene_name": "X-prolyl aminopeptidase 3", "omim_gene": [ "613553" ], "alias_name": [ "Intermediate Cleaving Peptidase 55" ], "gene_symbol": "XPNPEP3", "hgnc_symbol": "XPNPEP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:41253081-41363838", "ensembl_id": "ENSG00000196236" } }, "GRch38": { "90": { "location": "22:40857077-40932815", "ensembl_id": "ENSG00000196236" } } }, "hgnc_date_symbol_changed": "2006-08-02" }, "entity_type": "gene", "entity_name": "XPNPEP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Nephronophthisis-like nephropathy 1, 613159 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12382", "gene_name": "TSPY like 1", "omim_gene": [ "604714" ], "alias_name": null, "gene_symbol": "TSPYL1", "hgnc_symbol": "TSPYL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:116597741-116601066", "ensembl_id": "ENSG00000189241" } }, "GRch38": { "90": { "location": "6:116276578-116279903", "ensembl_id": "ENSG00000189241" } } }, "hgnc_date_symbol_changed": "2004-04-07" }, "entity_type": "gene", "entity_name": "TSPYL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15273283", "19463995", "22137496", "25449952", "16418600", "32885560", "33075815" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SLA/LP", "SLA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30605", "gene_name": "Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase", "omim_gene": [ "613009" ], "alias_name": [ "soluble liver antigen/liver pancreas antigen" ], "gene_symbol": "SEPSECS", "hgnc_symbol": "SEPSECS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:25121627-25162204", "ensembl_id": "ENSG00000109618" } }, "GRch38": { "90": { "location": "4:25120014-25160442", "ensembl_id": "ENSG00000109618" } } }, "hgnc_date_symbol_changed": "2007-05-01" }, "entity_type": "gene", "entity_name": "SEPSECS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12920088", "29464431", "29464431", "20920667" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Pontocerebellar hypoplasia type 2D, MIM# 613811" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p53R2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17296", "gene_name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B", "omim_gene": [ "604712" ], "alias_name": null, "gene_symbol": "RRM2B", "hgnc_symbol": "RRM2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:103216730-103251346", "ensembl_id": "ENSG00000048392" } }, "GRch38": { "90": { "location": "8:102204502-102239118", "ensembl_id": "ENSG00000048392" } } }, "hgnc_date_symbol_changed": "2002-01-14" }, "entity_type": "gene", "entity_name": "RRM2B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075", "Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCARMD1", "LGMD2D", "adhalin", "DMDA2", "A2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10805", "gene_name": "sarcoglycan alpha", "omim_gene": [ "600119" ], "alias_name": [ "50kD DAG", "adhalin", "limb girdle muscular dystrophy 2D" ], "gene_symbol": "SGCA", "hgnc_symbol": "SGCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48241575-48253292", "ensembl_id": "ENSG00000108823" } }, "GRch38": { "90": { "location": "17:50164214-50175931", "ensembl_id": "ENSG00000108823" } } }, "hgnc_date_symbol_changed": "1994-12-14" }, "entity_type": "gene", "entity_name": "SGCA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HIGM2", "CDA2", "ARP2", "AID" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13203", "gene_name": "activation induced cytidine deaminase", "omim_gene": [ "605257" ], "alias_name": null, "gene_symbol": "AICDA", "hgnc_symbol": "AICDA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:8754762-8765467", "ensembl_id": "ENSG00000111732" } }, "GRch38": { "90": { "location": "12:8602166-8612871", "ensembl_id": "ENSG00000111732" } } }, "hgnc_date_symbol_changed": "2000-09-19" }, "entity_type": "gene", "entity_name": "AICDA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Immunodeficiency with hyper-IgM, type 2, MIM#\t605258" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "immunological" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "EAR-7.1/EAR-7.2", "THRA3", "AR7", "ERBA", "NR1A1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11796", "gene_name": "thyroid hormone receptor, alpha", "omim_gene": [ "190120" ], "alias_name": null, "gene_symbol": "THRA", "hgnc_symbol": "THRA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:38214543-38250120", "ensembl_id": "ENSG00000126351" } }, "GRch38": { "90": { "location": "17:40058290-40093867", "ensembl_id": "ENSG00000126351" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "THRA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33272083", "32349464" ], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "treatable", "endocrine" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "E1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:983", "gene_name": "butyrylcholinesterase", "omim_gene": [ "177400" ], "alias_name": null, "gene_symbol": "BCHE", "hgnc_symbol": "BCHE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:165490692-165555260", "ensembl_id": "ENSG00000114200" } }, "GRch38": { "90": { "location": "3:165772904-165837472", "ensembl_id": "ENSG00000114200" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "BCHE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Butyrylcholinesterase deficiency, MIM#\t617936" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "pharmacogenomic" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IKK2", "NFKBIKB", "IKK-beta", "IKKB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5960", "gene_name": "inhibitor of nuclear factor kappa B kinase subunit beta", "omim_gene": [ "603258" ], "alias_name": null, "gene_symbol": "IKBKB", "hgnc_symbol": "IKBKB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:42128820-42189973", "ensembl_id": "ENSG00000104365" } }, "GRch38": { "90": { "location": "8:42271302-42332653", "ensembl_id": "ENSG00000104365" } } }, "hgnc_date_symbol_changed": "1998-02-11" }, "entity_type": "gene", "entity_name": "IKBKB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency 15B, MIM#\t615592" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "immunological" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "OCI-5", "SGBS", "SGBS1", "SGB", "DGSX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4451", "gene_name": "glypican 3", "omim_gene": [ "300037" ], "alias_name": [ "glypican proteoglycan 3" ], "gene_symbol": "GPC3", "hgnc_symbol": "GPC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:132669773-133119922", "ensembl_id": "ENSG00000147257" } }, "GRch38": { "90": { "location": "X:133535745-133985895", "ensembl_id": "ENSG00000147257" } } }, "hgnc_date_symbol_changed": "1996-08-08" }, "entity_type": "gene", "entity_name": "GPC3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARC41", "p40-ARC", "p41-ARC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:704", "gene_name": "actin related protein 2/3 complex subunit 1B", "omim_gene": [ "604223" ], "alias_name": [ "ARP2/3 protein complex subunit p41", "actin related protein 2/3 complex, subunit 1A (41 kD)" ], "gene_symbol": "ARPC1B", "hgnc_symbol": "ARPC1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:98971872-98992424", "ensembl_id": "ENSG00000130429" } }, "GRch38": { "90": { "location": "7:99374249-99394801", "ensembl_id": "ENSG00000130429" } } }, "hgnc_date_symbol_changed": "1999-08-06" }, "entity_type": "gene", "entity_name": "ARPC1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29127144", "27965109", "28368018", "30254128" ], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12681", "JFP11", "FLJ22302", "TMEM112A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14154", "gene_name": "lipase maturation factor 1", "omim_gene": [ "611761" ], "alias_name": null, "gene_symbol": "LMF1", "hgnc_symbol": "LMF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:903634-1031318", "ensembl_id": "ENSG00000103227" } }, "GRch38": { "90": { "location": "16:853634-981318", "ensembl_id": "ENSG00000103227" } } }, "hgnc_date_symbol_changed": "2007-11-29" }, "entity_type": "gene", "entity_name": "LMF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Combined lipase deficiency" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ALK-5", "ACVRLK4", "ALK5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11772", "gene_name": "transforming growth factor beta receptor 1", "omim_gene": [ "190181" ], "alias_name": [ "activin A receptor type II-like kinase, 53kDa" ], "gene_symbol": "TGFBR1", "hgnc_symbol": "TGFBR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:101866320-101916474", "ensembl_id": "ENSG00000106799" } }, "GRch38": { "90": { "location": "9:99104038-99154192", "ensembl_id": "ENSG00000106799" } } }, "hgnc_date_symbol_changed": "1993-09-30" }, "entity_type": "gene", "entity_name": "TGFBR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Loeys-Dietz syndrome 1, MIM# 609192" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCLH", "DC", "LISX", "DBCN", "XLIS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2714", "gene_name": "doublecortin", "omim_gene": [ "300121" ], "alias_name": [ "doublecortex" ], "gene_symbol": "DCX", "hgnc_symbol": "DCX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:110537007-110655603", "ensembl_id": "ENSG00000077279" } }, "GRch38": { "90": { "location": "X:111293779-111412429", "ensembl_id": "ENSG00000077279" } } }, "hgnc_date_symbol_changed": "1998-03-24" }, "entity_type": "gene", "entity_name": "DCX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10915612", "9489699", "12552055", "20301364", "14625554" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lissencephaly, X-linked MIM#300067", "Subcortical laminal heterotopia, X-linked MIM#300067" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "2.1", "version_created": "2026-04-24T17:01:18.976102+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": [ "ATV", "AT-V2", "AT-V1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7652", "gene_name": "nibrin", "omim_gene": [ "602667" ], "alias_name": null, "gene_symbol": "NBN", "hgnc_symbol": "NBN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:90945564-91015456", "ensembl_id": "ENSG00000104320" } }, "GRch38": { "90": { "location": "8:89933336-90003228", "ensembl_id": "ENSG00000104320" } } }, "hgnc_date_symbol_changed": "2005-06-02" }, "entity_type": "gene", "entity_name": "NBN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Soft tissue sarcoma, MONDO:0018078", "Sarcoma, MONDO:0005089", "Nijmegen breakage syndrome, MONDO:0009623", "Nijmegen breakage syndrome, MIM#251260" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4358, "hash_id": null, "name": "Sarcoma soft tissue", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with soft tissue sarcoma.\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 soft tissue sarcoma 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": "2026-01-12T09:39:55.152718+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PJS", "LKB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11389", "gene_name": "serine/threonine kinase 11", "omim_gene": [ "602216" ], "alias_name": [ "polarization-related protein LKB1" ], "gene_symbol": "STK11", "hgnc_symbol": "STK11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:1189406-1228428", "ensembl_id": "ENSG00000118046" } }, "GRch38": { "90": { "location": "19:1177558-1228435", "ensembl_id": "ENSG00000118046" } } }, "hgnc_date_symbol_changed": "1998-01-21" }, "entity_type": "gene", "entity_name": "STK11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "Peutz-Jeghers syndrome, MONDO:0008280", "Peutz-Jeghers syndrome, MIM#175200" ], "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": [ "OPCA3", "ADCAII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10560", "gene_name": "ataxin 7", "omim_gene": [ "607640" ], "alias_name": null, "gene_symbol": "ATXN7", "hgnc_symbol": "ATXN7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:63850233-63989138", "ensembl_id": "ENSG00000163635" } }, "GRch38": { "90": { "location": "3:63864557-64003462", "ensembl_id": "ENSG00000163635" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "str", "entity_name": "ATXN7_SCA7_CAG", "confidence_level": "3", "penetrance": null, "publications": [ "29325606", "20301433" ], "evidence": [ "Expert Review Green", "Expert List" ], "phenotypes": [ "Spinocerebellar ataxia 7 MIM#164500" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "3", "grch37_coordinates": [ 63898362, 63898391 ], "grch38_coordinates": [ 63912686, 63912715 ], "normal_repeats": 27, "pathogenic_repeats": 37, "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] } } ] }