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{ "count": 36035, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=78", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=76", "results": [ { "gene_data": { "alias": [ "Calmbp1", "ASP", "FLJ10517", "FLJ10549" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19048", "gene_name": "abnormal spindle microtubule assembly", "omim_gene": [ "605481" ], "alias_name": null, "gene_symbol": "ASPM", "hgnc_symbol": "ASPM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:197053258-197115824", "ensembl_id": "ENSG00000066279" } }, "GRch38": { "90": { "location": "1:197084128-197146694", "ensembl_id": "ENSG00000066279" } } }, "hgnc_date_symbol_changed": "2002-08-13" }, "entity_type": "gene", "entity_name": "ASPM", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "18452193", "19332161", "19770472", "27250695" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Microcephaly 5, primary, autosomal recessive\t(MIM#608716)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 15, "hash_id": null, "name": "Lissencephaly and Band Heterotopia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nIt contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.\r\n\r\nPlease also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.", "status": "public", "version": "1.30", "version_created": "2026-01-19T11:50:01.984105+11:00", "relevant_disorders": [ "Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409" ], "stats": { "number_of_genes": 46, "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": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MMAC1", "TEP1", "PTEN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9588", "gene_name": "phosphatase and tensin homolog", "omim_gene": [ "601728" ], "alias_name": [ "mutated in multiple advanced cancers 1" ], "gene_symbol": "PTEN", "hgnc_symbol": "PTEN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:89622870-89731687", "ensembl_id": "ENSG00000171862" } }, "GRch38": { "90": { "location": "10:87863113-87971930", "ensembl_id": "ENSG00000171862" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "PTEN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32959437" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Macrocephaly/autism syndrome, MIM# 605309" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 18, "hash_id": null, "name": "Polymicrogyria and Schizencephaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.", "status": "public", "version": "0.204", "version_created": "2025-12-18T09:49:46.643708+11:00", "relevant_disorders": [ "Polymicrogyria", "HP:0002126;Schizencephaly", "HP:0010636" ], "stats": { "number_of_genes": 88, "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": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ11152", "dJ266L20.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21056", "gene_name": "ER membrane associated RNA degradation", "omim_gene": [ "615532" ], "alias_name": null, "gene_symbol": "ERMARD", "hgnc_symbol": "ERMARD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:170151718-170181680", "ensembl_id": "ENSG00000130023" } }, "GRch38": { "90": { "location": "6:169751622-169781584", "ensembl_id": "ENSG00000130023" } } }, "hgnc_date_symbol_changed": "2013-08-28" }, "entity_type": "gene", "entity_name": "ERMARD", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24056535", "27087860" ], "evidence": [ "Expert Review Red", "Australian Genomics Health Alliance Brain Malformation Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Periventricular nodular heterotopia 6, MIM#615544" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 19, "hash_id": null, "name": "Periventricular Grey Matter Heterotopia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles.\r\n\r\nThis panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS and a consensus panel used by RMH.", "status": "public", "version": "1.2", "version_created": "2023-01-04T20:17:09.749124+11:00", "relevant_disorders": [ "Grey matter heterotopia", "HP:0002282" ], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ30169", "H2-ALPHA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12407", "gene_name": "tubulin alpha 4a", "omim_gene": [ "191110" ], "alias_name": null, "gene_symbol": "TUBA4A", "hgnc_symbol": "TUBA4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:220114433-220142892", "ensembl_id": "ENSG00000127824" } }, "GRch38": { "90": { "location": "2:219249711-219278170", "ensembl_id": "ENSG00000127824" } } }, "hgnc_date_symbol_changed": "2007-02-12" }, "entity_type": "gene", "entity_name": "TUBA4A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25374358", "28069311", "35327632", "34169147", "38884572", "33760283", "26675813" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 24, "hash_id": null, "name": "Early-onset Dementia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.58", "version_created": "2026-03-31T16:43:37.497568+11:00", "relevant_disorders": [ "Cognitive impairment", "HP:0100543" ], "stats": { "number_of_genes": 96, "number_of_strs": 6, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Nek8", "NERCC", "DKFZp434D0935", "MGC16714" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18591", "gene_name": "NIMA related kinase 9", "omim_gene": [ "609798" ], "alias_name": null, "gene_symbol": "NEK9", "hgnc_symbol": "NEK9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:75548822-75594047", "ensembl_id": "ENSG00000119638" } }, "GRch38": { "90": { "location": "14:75079353-75127344", "ensembl_id": "ENSG00000119638" } } }, "hgnc_date_symbol_changed": "2002-05-08" }, "entity_type": "gene", "entity_name": "NEK9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26908619", "21271645", "36712877" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Lethal congenital contracture syndrome 10, MIM# 617022", "Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262" ], "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": [] }, { "gene_data": { "alias": [ "FLJ21662" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30073", "gene_name": "DNA polymerase alpha 2, accessory subunit", "omim_gene": null, "alias_name": [ "DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit" ], "gene_symbol": "POLA2", "hgnc_symbol": "POLA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65029233-65073060", "ensembl_id": "ENSG00000014138" } }, "GRch38": { "90": { "location": "11:65261762-65305589", "ensembl_id": "ENSG00000014138" } } }, "hgnc_date_symbol_changed": "2005-01-10" }, "entity_type": "gene", "entity_name": "POLA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39616267" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Telomere biology syndrome MONDO:0100137" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 56, "hash_id": null, "name": "Bone Marrow Failure", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.", "status": "public", "version": "1.141", "version_created": "2026-03-17T18:48:23.244194+11:00", "relevant_disorders": [ "Abnormality of multiple cell lineages of the bone marrow", "HP:0012145" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZAP-70", "STD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12858", "gene_name": "zeta chain of T-cell receptor associated protein kinase 70", "omim_gene": [ "176947" ], "alias_name": [ "tyrosine-protein kinase ZAP-70" ], "gene_symbol": "ZAP70", "hgnc_symbol": "ZAP70", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:98330023-98356325", "ensembl_id": "ENSG00000115085" } }, "GRch38": { "90": { "location": "2:97713560-97739862", "ensembl_id": "ENSG00000115085" } } }, "hgnc_date_symbol_changed": "1995-05-16" }, "entity_type": "gene", "entity_name": "ZAP70", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "XT-II", "PXYLT2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15517", "gene_name": "xylosyltransferase 2", "omim_gene": [ "608125" ], "alias_name": [ "protein xylosyltransferase 2" ], "gene_symbol": "XYLT2", "hgnc_symbol": "XYLT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48423453-48440499", "ensembl_id": "ENSG00000015532" } }, "GRch38": { "90": { "location": "17:50346092-50363138", "ensembl_id": "ENSG00000015532" } } }, "hgnc_date_symbol_changed": "2001-04-06" }, "entity_type": "gene", "entity_name": "XYLT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26027496" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spondyloocular syndrome, MIM#\t605822" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ30570", "rd6", "NNO2", "C1QTNF5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18121", "gene_name": "membrane frizzled-related protein", "omim_gene": [ "606227" ], "alias_name": [ "membrane-type frizzled-related protein", "C1q and TNF related 5" ], "gene_symbol": "MFRP", "hgnc_symbol": "MFRP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:119209652-119217383", "ensembl_id": "ENSG00000235718" } }, "GRch38": { "90": { "location": "11:119338942-119346673", "ensembl_id": "ENSG00000235718" } } }, "hgnc_date_symbol_changed": "2002-02-25" }, "entity_type": "gene", "entity_name": "MFRP", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36605040" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Microphthalmia, isolated 5, MIM#\t611040" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FBX14", "FBXO14", "Fbx31", "MGC15419" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16510", "gene_name": "F-box protein 31", "omim_gene": [ "609102" ], "alias_name": null, "gene_symbol": "FBXO31", "hgnc_symbol": "FBXO31", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:87360593-87425748", "ensembl_id": "ENSG00000103264" } }, "GRch38": { "90": { "location": "16:87326987-87392142", "ensembl_id": "ENSG00000103264" } } }, "hgnc_date_symbol_changed": "2001-09-12" }, "entity_type": "gene", "entity_name": "FBXO31", "confidence_level": "3", "penetrance": "unknown", "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": [ "32989326", "33675180" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cerebral palsy, MONDO:0006497, FBXO31-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP586P0123" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24564", "gene_name": "C2 calcium dependent domain containing 3", "omim_gene": [ "615944" ], "alias_name": null, "gene_symbol": "C2CD3", "hgnc_symbol": "C2CD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:73723763-73882255", "ensembl_id": "ENSG00000168014" } }, "GRch38": { "90": { "location": "11:74012714-74171210", "ensembl_id": "ENSG00000168014" } } }, "hgnc_date_symbol_changed": "2007-10-17" }, "entity_type": "gene", "entity_name": "C2CD3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24997988", "26477546", "27094867", "30097616", "33875766" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Orofaciodigital syndrome XIV, MIM# 615948", "MONDO:0014413" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "D6S586E" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1802", "gene_name": "corneodesmosin", "omim_gene": [ "602593" ], "alias_name": null, "gene_symbol": "CDSN", "hgnc_symbol": "CDSN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31082867-31088223", "ensembl_id": "ENSG00000204539" } }, "GRch38": { "90": { "location": "6:31115090-31120446", "ensembl_id": "ENSG00000204539" } } }, "hgnc_date_symbol_changed": "1998-05-14" }, "entity_type": "gene", "entity_name": "CDSN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24794518", "18436651", "20691404", "21191406" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Peeling skin syndrome 1 MIM#270300", "ichthyosiform erythroderma" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 97, "hash_id": null, "name": "Desmosomal disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nDesmosomal disorders typically affect skin, hair and heart, causing blistering/peeling, alopecia/hypotrichosis and cardiomyopathy.", "status": "public", "version": "1.4", "version_created": "2026-03-24T17:36:11.745191+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066; Alopecia", "HP:0001596" ], "stats": { "number_of_genes": 14, "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": [ "CDHF6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3050", "gene_name": "desmoglein 3", "omim_gene": [ "169615" ], "alias_name": [ "pemphigus vulgaris antigen" ], "gene_symbol": "DSG3", "hgnc_symbol": "DSG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:29027758-29058665", "ensembl_id": "ENSG00000134757" } }, "GRch38": { "90": { "location": "18:31447795-31478702", "ensembl_id": "ENSG00000134757" } } }, "hgnc_date_symbol_changed": "1992-08-25" }, "entity_type": "gene", "entity_name": "DSG3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26763450", "37850634", "30528827" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NY-BR-96", "LYK5", "Stlk", "STRAD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30172", "gene_name": "STE20-related kinase adaptor alpha", "omim_gene": [ "608626" ], "alias_name": [ "STE20-like pseudokinase" ], "gene_symbol": "STRADA", "hgnc_symbol": "STRADA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:61780192-61819330", "ensembl_id": "ENSG00000266173" } }, "GRch38": { "90": { "location": "17:63682336-63741986", "ensembl_id": "ENSG00000266173" } } }, "hgnc_date_symbol_changed": "2008-09-15" }, "entity_type": "gene", "entity_name": "STRADA", "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": 115, "hash_id": null, "name": "Hydrocephalus_Ventriculomegaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.", "status": "public", "version": "0.134", "version_created": "2026-01-28T12:49:29.963583+11:00", "relevant_disorders": [ "Hydrocephalus", "HP:0000238; Ventriculomegaly", "HP:0002119" ], "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": null }, { "gene_data": { "alias": [ "MAK", "KIAA1330", "Midori" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17574", "gene_name": "alpha kinase 3", "omim_gene": [ "617608" ], "alias_name": [ "myocyte induction differentiation originator", "muscle alpha-kinase" ], "gene_symbol": "ALPK3", "hgnc_symbol": "ALPK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:85359911-85416713", "ensembl_id": "ENSG00000136383" } }, "GRch38": { "90": { "location": "15:84816680-84873482", "ensembl_id": "ENSG00000136383" } } }, "hgnc_date_symbol_changed": "2004-12-01" }, "entity_type": "gene", "entity_name": "ALPK3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26846950" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Cardiomyopathy, familial hypertrophic 27, MIM#\t618052" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 116, "hash_id": null, "name": "Hydrops fetalis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.", "status": "public", "version": "0.328", "version_created": "2025-07-08T23:27:02.854141+10:00", "relevant_disorders": [ "Hydrops fetalis", "HP:0001789" ], "stats": { "number_of_genes": 169, "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3401", "gene_name": "epoxide hydrolase 1", "omim_gene": [ "132810" ], "alias_name": null, "gene_symbol": "EPHX1", "hgnc_symbol": "EPHX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:225997794-226033260", "ensembl_id": "ENSG00000143819" } }, "GRch38": { "90": { "location": "1:225810092-225845563", "ensembl_id": "ENSG00000143819" } } }, "hgnc_date_symbol_changed": "1988-08-09" }, "entity_type": "gene", "entity_name": "EPHX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34342583" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hereditary lipodystrophy, MONDO:0020087, EPHX1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 130, "hash_id": null, "name": "Lipodystrophy_Lipoatrophy", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.", "status": "public", "version": "1.42", "version_created": "2026-02-17T18:29:33.924527+11:00", "relevant_disorders": [ "Lipodystrophy", "HP:0009125" ], "stats": { "number_of_genes": 39, "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": [] }, { "gene_data": { "alias": [ "SUFUH", "SUFUXL", "PRO1280" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16466", "gene_name": "SUFU negative regulator of hedgehog signaling", "omim_gene": [ "607035" ], "alias_name": null, "gene_symbol": "SUFU", "hgnc_symbol": "SUFU", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:104263744-104393292", "ensembl_id": "ENSG00000107882" } }, "GRch38": { "90": { "location": "10:102503987-102633535", "ensembl_id": "ENSG00000107882" } } }, "hgnc_date_symbol_changed": "2001-08-28" }, "entity_type": "gene", "entity_name": "SUFU", "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": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PRO19563" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18053", "gene_name": "polycystin 1 like 1, transient receptor potential channel interacting", "omim_gene": [ "609721" ], "alias_name": [ "polycystin-1L1" ], "gene_symbol": "PKD1L1", "hgnc_symbol": "PKD1L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:47814250-47988088", "ensembl_id": "ENSG00000158683" } }, "GRch38": { "90": { "location": "7:47774652-47948491", "ensembl_id": "ENSG00000158683" } } }, "hgnc_date_symbol_changed": "2002-03-21" }, "entity_type": "gene", "entity_name": "PKD1L1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27616478", "30664273", "20080492", "31026592" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Heterotaxy, visceral, 8, autosomal (MIM#617205)" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "JDP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28908", "gene_name": "DnaJ heat shock protein family (Hsp40) member C12", "omim_gene": [ "606060" ], "alias_name": [ "J domain protein 1" ], "gene_symbol": "DNAJC12", "hgnc_symbol": "DNAJC12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:69556427-69597924", "ensembl_id": "ENSG00000108176" } }, "GRch38": { "90": { "location": "10:67796665-67838166", "ensembl_id": "ENSG00000108176" } } }, "hgnc_date_symbol_changed": "2004-04-15" }, "entity_type": "gene", "entity_name": "DNAJC12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "EIF2Bgamma", "EIF-2B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3259", "gene_name": "eukaryotic translation initiation factor 2B subunit gamma", "omim_gene": [ "606273" ], "alias_name": null, "gene_symbol": "EIF2B3", "hgnc_symbol": "EIF2B3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45316450-45452282", "ensembl_id": "ENSG00000070785" } }, "GRch38": { "90": { "location": "1:44850522-44986722", "ensembl_id": "ENSG00000070785" } } }, "hgnc_date_symbol_changed": "1998-10-16" }, "entity_type": "gene", "entity_name": "EIF2B3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11835386", "19158808", "21484434", "18263758", "25843247", "25761052", "28904586", "28597716" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "leukoencephalopathy with vanishing white matter MONDO:0011380", "ataxia", "spasticity", "optic atrophy" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "ttv" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3512", "gene_name": "exostosin glycosyltransferase 1", "omim_gene": [ "608177" ], "alias_name": [ "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase" ], "gene_symbol": "EXT1", "hgnc_symbol": "EXT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:118806729-119124092", "ensembl_id": "ENSG00000182197" } }, "GRch38": { "90": { "location": "8:117794490-118111853", "ensembl_id": "ENSG00000182197" } } }, "hgnc_date_symbol_changed": "1993-05-04" }, "entity_type": "gene", "entity_name": "EXT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7550340", "8981950", "20534475" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "hereditary multiple osteochondromas MONDO:0005508", "exostoses, multiple, type 1 MONDO:0007585" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "HK4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4195", "gene_name": "glucokinase", "omim_gene": [ "138079" ], "alias_name": [ "hexokinase 4" ], "gene_symbol": "GCK", "hgnc_symbol": "GCK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:44183872-44237769", "ensembl_id": "ENSG00000106633" } }, "GRch38": { "90": { "location": "7:44144271-44198170", "ensembl_id": "ENSG00000106633" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "GCK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19790256" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853)", "Diabetes mellitus, permanent neonatal 1, AR (MIM#606176)", "Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485)", "MODY, type II, AD (MIM#125851)" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "FBLN6", "FIBL6", "FIBL-6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19194", "gene_name": "hemicentin 1", "omim_gene": [ "608548" ], "alias_name": [ "fibulin 6" ], "gene_symbol": "HMCN1", "hgnc_symbol": "HMCN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:185703683-186160085", "ensembl_id": "ENSG00000143341" } }, "GRch38": { "90": { "location": "1:185734551-186190949", "ensembl_id": "ENSG00000143341" } } }, "hgnc_date_symbol_changed": "2005-06-03" }, "entity_type": "gene", "entity_name": "HMCN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25986072", "16020313", "14570714", "27007659" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Macular degeneration, age-related, 1} MIM#603075", "age related macular degeneration 1 MONDO:0011285" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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:7448", "gene_name": "myotubularin 1", "omim_gene": [ "300415" ], "alias_name": null, "gene_symbol": "MTM1", "hgnc_symbol": "MTM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:149737069-149841795", "ensembl_id": "ENSG00000171100" } }, "GRch38": { "90": { "location": "X:150568619-150673322", "ensembl_id": "ENSG00000171100" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MTM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10790201" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myopathy, centronuclear, X-linked, MIM# 310400" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "TREM-2", "Trem2a", "Trem2b", "Trem2c" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17761", "gene_name": "triggering receptor expressed on myeloid cells 2", "omim_gene": [ "605086" ], "alias_name": null, "gene_symbol": "TREM2", "hgnc_symbol": "TREM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:41126244-41130924", "ensembl_id": "ENSG00000095970" } }, "GRch38": { "90": { "location": "6:41158506-41163186", "ensembl_id": "ENSG00000095970" } } }, "hgnc_date_symbol_changed": "2002-08-09" }, "entity_type": "gene", "entity_name": "TREM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12080485", "15883308" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193", "{Alzhieimer disease 17, susceptibility to}, MIM# 615080" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "KIAA1577" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29316", "gene_name": "zinc finger SWIM-type containing 6", "omim_gene": [ "615951" ], "alias_name": null, "gene_symbol": "ZSWIM6", "hgnc_symbol": "ZSWIM6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:60628100-60841997", "ensembl_id": "ENSG00000130449" } }, "GRch38": { "90": { "location": "5:61332273-61546170", "ensembl_id": "ENSG00000130449" } } }, "hgnc_date_symbol_changed": "2003-12-17" }, "entity_type": "gene", "entity_name": "ZSWIM6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29198722", "25105228", "26706854" ], "evidence": [ "Expert Review Green", "Expert Review", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865", "Acromelic frontonasal dysostosis, MIM# 603671" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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:13361", "gene_name": "matrix extracellular phosphoglycoprotein", "omim_gene": [ "605912" ], "alias_name": null, "gene_symbol": "MEPE", "hgnc_symbol": "MEPE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:88742563-88767969", "ensembl_id": "ENSG00000152595" } }, "GRch38": { "90": { "location": "4:87821411-87846817", "ensembl_id": "ENSG00000152595" } } }, "hgnc_date_symbol_changed": "2000-09-19" }, "entity_type": "gene", "entity_name": "MEPE", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30287925" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related", "hereditary congenital facial paresis", "otosclerosis" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "TCELLPTP", "TC-PTP", "TCPTP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9650", "gene_name": "protein tyrosine phosphatase, non-receptor type 2", "omim_gene": [ "176887" ], "alias_name": null, "gene_symbol": "PTPN2", "hgnc_symbol": "PTPN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:12785477-12929642", "ensembl_id": "ENSG00000175354" } }, "GRch38": { "90": { "location": "18:12785478-12929643", "ensembl_id": "ENSG00000175354" } } }, "hgnc_date_symbol_changed": "1991-09-13" }, "entity_type": "gene", "entity_name": "PTPN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32499645", "27658548", "39028869", "37537852", "35389161" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "FLJ38663", "SPG55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26784", "gene_name": "chromosome 12 open reading frame 65", "omim_gene": [ "613541" ], "alias_name": null, "gene_symbol": "C12orf65", "hgnc_symbol": "C12orf65", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:123717463-123742506", "ensembl_id": "ENSG00000130921" } }, "GRch38": { "90": { "location": "12:123232916-123257959", "ensembl_id": "ENSG00000130921" } } }, "hgnc_date_symbol_changed": "2007-02-26" }, "entity_type": "gene", "entity_name": "C12orf65", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23188110", "24080142", "24198383", "20598281", "32808965", "32478789", "28804760" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic paraplegia 55, autosomal recessive, MIM#615035", "Combined oxidative phosphorylation deficiency 7, MIM# 613559" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "bA430M15.1", "CanIon" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19082", "gene_name": "sodium leak channel, non-selective", "omim_gene": [ "611549" ], "alias_name": null, "gene_symbol": "NALCN", "hgnc_symbol": "NALCN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:101706130-102068843", "ensembl_id": "ENSG00000102452" } }, "GRch38": { "90": { "location": "13:101053776-101416492", "ensembl_id": "ENSG00000102452" } } }, "hgnc_date_symbol_changed": "2007-04-26" }, "entity_type": "gene", "entity_name": "NALCN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25683120", "23749988", "24075186", "30167850" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266", "Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "D18S892E", "DTN", "DTN-1", "DTN-2", "DTN-3", "DRP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3057", "gene_name": "dystrobrevin alpha", "omim_gene": [ "601239" ], "alias_name": [ "dystrophin-related protein 3" ], "gene_symbol": "DTNA", "hgnc_symbol": "DTNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:32073254-32471808", "ensembl_id": "ENSG00000134769" } }, "GRch38": { "90": { "location": "18:34493290-34891844", "ensembl_id": "ENSG00000134769" } } }, "hgnc_date_symbol_changed": "1998-02-11" }, "entity_type": "gene", "entity_name": "DTNA", "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": [ "PMID: 36799992" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Muscular dystrophy, MONDO:0020121, DTNA-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 141, "hash_id": null, "name": "Muscular dystrophy and myopathy_Paediatric", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.122", "version_created": "2026-04-02T11:45:25.115390+11:00", "relevant_disorders": [ "Muscular dystrophy", "HP:0003560; Elevated circulating creatine kinase concentration", "HP:0003236; Myopathy", "HP:0003198" ], "stats": { "number_of_genes": 146, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CGI-121", "CGI121" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24259", "gene_name": "TP53RK binding protein", "omim_gene": [ "608680" ], "alias_name": null, "gene_symbol": "TPRKB", "hgnc_symbol": "TPRKB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:73956231-73964527", "ensembl_id": "ENSG00000144034" } }, "GRch38": { "90": { "location": "2:73729104-73737400", "ensembl_id": "ENSG00000144034" } } }, "hgnc_date_symbol_changed": "2006-02-02" }, "entity_type": "gene", "entity_name": "TPRKB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28805828", "30053862" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Galloway-Mowat syndrome 5, OMIM #617731" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 144, "hash_id": null, "name": "Proteinuria", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.", "status": "public", "version": "0.239", "version_created": "2026-03-12T18:51:41.043263+11:00", "relevant_disorders": [ "Proteinuria HP:0000093" ], "stats": { "number_of_genes": 88, "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": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "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": [ "WNT-4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12783", "gene_name": "Wnt family member 4", "omim_gene": [ "603490" ], "alias_name": null, "gene_symbol": "WNT4", "hgnc_symbol": "WNT4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:22443798-22470462", "ensembl_id": "ENSG00000162552" } }, "GRch38": { "90": { "location": "1:22117305-22143969", "ensembl_id": "ENSG00000162552" } } }, "hgnc_date_symbol_changed": "2000-07-31" }, "entity_type": "gene", "entity_name": "WNT4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25108526", "26733379" ], "evidence": [ "Expert list" ], "phenotypes": [ "Osteoporosis" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 147, "hash_id": null, "name": "Osteogenesis Imperfecta and Osteoporosis", "disease_group": "Skeletal disorders; Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.18", "version_created": "2026-02-22T14:59:29.563350+11:00", "relevant_disorders": [ "Increased susceptibility to fractures", "HP:0002659" ], "stats": { "number_of_genes": 48, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "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": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35141356" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "isolated optic atrophy", "MONDO:0003608" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 149, "hash_id": null, "name": "Optic Atrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.", "status": "public", "version": "1.72", "version_created": "2026-03-31T18:57:17.873049+11:00", "relevant_disorders": [ "Optic atrophy", "HP:0000648" ], "stats": { "number_of_genes": 80, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AP19", "SIGMA1A", "WUGSC:H_DJ0747G18.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:559", "gene_name": "adaptor related protein complex 1 sigma 1 subunit", "omim_gene": [ "603531" ], "alias_name": [ "clathrin-associated/assembly/adaptor protein, small 1 (19kD)", "clathrin coat assembly protein AP19", "sigma1A subunit of AP-1 clathrin adaptor complex", "AP-1 complex subunit sigma-1A", "sigma1A-adaptin", "golgi adaptor HA1/AP1 adaptin sigma-1A subunit", "clathrin assembly protein complex 1 sigma-1A small chain", "HA1 19 kDa subunit" ], "gene_symbol": "AP1S1", "hgnc_symbol": "AP1S1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:100797678-100804877", "ensembl_id": "ENSG00000106367" } }, "GRch38": { "90": { "location": "7:101154397-101161596", "ensembl_id": "ENSG00000106367" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "AP1S1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19057675", "23423674", "30244301" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "MEDNIK syndrome (MIM#609313)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [ "CSB", "RAD26", "ARMD5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3438", "gene_name": "ERCC excision repair 6, chromatin remodeling factor", "omim_gene": [ "609413" ], "alias_name": [ "Cockayne syndrome B protein" ], "gene_symbol": "ERCC6", "hgnc_symbol": "ERCC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:50663414-50747584", "ensembl_id": "ENSG00000225830" } }, "GRch38": { "90": { "location": "10:49455368-49539538", "ensembl_id": "ENSG00000225830" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "ERCC6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebrooculofacioskeletal syndrome 1, MIM# 214150", "MONDO:0008955", "Cockayne syndrome, type B, MIM# 133540", "MONDO:0019570", "De Sanctis-Cacchione syndrome, MIM# 278800", "MONDO:0010217", "UV-sensitive syndrome 1, MIM# 600630", "MONDO:0010909" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 156, "hash_id": null, "name": "Photosensitivity Syndromes", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with photosensitivity, in particular DNA repair disorders and porphyrias.", "status": "public", "version": "1.11", "version_created": "2025-12-08T10:32:19.181318+11:00", "relevant_disorders": [ "Cutaneous photosensitivity", "HP:0000992" ], "stats": { "number_of_genes": 28, "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": [ "LAL", "CESD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6617", "gene_name": "lipase A, lysosomal acid type", "omim_gene": [ "613497" ], "alias_name": [ "Wolman disease", "lysosomal acid lipase", "sterol esterase" ], "gene_symbol": "LIPA", "hgnc_symbol": "LIPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:90973326-91174314", "ensembl_id": "ENSG00000107798" } }, "GRch38": { "90": { "location": "10:89213569-89414557", "ensembl_id": "ENSG00000107798" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "LIPA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11487567" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cholesteryl ester storage disease, MIM# 278000", "Wolman disease, MIM# 278000", "Lysosomal acid lipase deficiency, MONDO:0010204" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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": [ "HSA9947", "CLN12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30213", "gene_name": "ATPase 13A2", "omim_gene": [ "610513" ], "alias_name": null, "gene_symbol": "ATP13A2", "hgnc_symbol": "ATP13A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:17312453-17338423", "ensembl_id": "ENSG00000159363" } }, "GRch38": { "90": { "location": "1:16985958-17011928", "ensembl_id": "ENSG00000159363" } } }, "hgnc_date_symbol_changed": "2005-01-12" }, "entity_type": "gene", "entity_name": "ATP13A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28137957", "31996848" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic paraplegia 78, autosomal recessive 617225" ], "mode_of_inheritance": "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": [ "DXS1272E", "XE169" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11114", "gene_name": "lysine demethylase 5C", "omim_gene": [ "314690" ], "alias_name": null, "gene_symbol": "KDM5C", "hgnc_symbol": "KDM5C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:53220503-53254604", "ensembl_id": "ENSG00000126012" } }, "GRch38": { "90": { "location": "X:53191321-53225422", "ensembl_id": "ENSG00000126012" } } }, "hgnc_date_symbol_changed": "2009-04-06" }, "entity_type": "gene", "entity_name": "KDM5C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23246292", "32279304", "26919706", "15586325" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534", "MONDO:0010355" ], "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": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FKSG32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25461", "gene_name": "pseudouridylate synthase 3", "omim_gene": [ "616283" ], "alias_name": null, "gene_symbol": "PUS3", "hgnc_symbol": "PUS3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:125763381-125773116", "ensembl_id": "ENSG00000110060" } }, "GRch38": { "90": { "location": "11:125893485-125903221", "ensembl_id": "ENSG00000110060" } } }, "hgnc_date_symbol_changed": "2004-08-23" }, "entity_type": "gene", "entity_name": "PUS3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36125428", "30308082", "28454995", "27055666", "30697592", "31444731" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly and gray sclerae, MIM#\t617051" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CI-42k" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7684", "gene_name": "NADH:ubiquinone oxidoreductase subunit A10", "omim_gene": [ "603835" ], "alias_name": [ "complex I 42kDa subunit" ], "gene_symbol": "NDUFA10", "hgnc_symbol": "NDUFA10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:240831867-240964819", "ensembl_id": "ENSG00000130414" } }, "GRch38": { "90": { "location": "2:239892450-240025402", "ensembl_id": "ENSG00000130414" } } }, "hgnc_date_symbol_changed": "1997-12-17" }, "entity_type": "gene", "entity_name": "NDUFA10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21150889", "26741492", "28247337" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243" ], "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": [ "Ul", "LNP1", "LNP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21610", "gene_name": "lunapark, ER junction formation factor", "omim_gene": [ "610236" ], "alias_name": [ "limb and neural patterns" ], "gene_symbol": "LNPK", "hgnc_symbol": "LNPK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:176788620-176867567", "ensembl_id": "ENSG00000144320" } }, "GRch38": { "90": { "location": "2:175923892-176002839", "ensembl_id": "ENSG00000144320" } } }, "hgnc_date_symbol_changed": "2016-07-07" }, "entity_type": "gene", "entity_name": "LNPK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35599435, 30032983", "https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090" ], "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": [] }, { "gene_data": { "alias": [ "Kir5.1", "BIR9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6262", "gene_name": "potassium voltage-gated channel subfamily J member 16", "omim_gene": [ "605722" ], "alias_name": null, "gene_symbol": "KCNJ16", "hgnc_symbol": "KCNJ16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:68049570-68131749", "ensembl_id": "ENSG00000153822" } }, "GRch38": { "90": { "location": "17:70053429-70135608", "ensembl_id": "ENSG00000153822" } } }, "hgnc_date_symbol_changed": "1998-05-29" }, "entity_type": "gene", "entity_name": "KCNJ16", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33811157", "33840812" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Inherited renal tubular disease, MONDO:0015962, KCNJ16-related", "Renal tubulopathy", "deafness" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Mal", "wyatt" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17192", "gene_name": "TIR domain containing adaptor protein", "omim_gene": [ "606252" ], "alias_name": [ "MyD88 adapter-like" ], "gene_symbol": "TIRAP", "hgnc_symbol": "TIRAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:126152960-126168740", "ensembl_id": "ENSG00000150455" } }, "GRch38": { "90": { "location": "11:126283065-126298845", "ensembl_id": "ENSG00000150455" } } }, "hgnc_date_symbol_changed": "2003-06-05" }, "entity_type": "gene", "entity_name": "TIRAP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28235196" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Staphylococcal disease during childhood" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 231, "hash_id": null, "name": "Defects of intrinsic and innate immunity", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.36", "version_created": "2026-04-08T12:35:08.612526+10:00", "relevant_disorders": [ "Unusual infections", "HP:0032101" ], "stats": { "number_of_genes": 86, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CD279", "PD1", "hSLE1", "PD-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8760", "gene_name": "programmed cell death 1", "omim_gene": [ "600244" ], "alias_name": null, "gene_symbol": "PDCD1", "hgnc_symbol": "PDCD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:242792033-242801060", "ensembl_id": "ENSG00000188389" } }, "GRch38": { "90": { "location": "2:241849881-241858908", "ensembl_id": "ENSG00000188389" } } }, "hgnc_date_symbol_changed": "1994-05-24" }, "entity_type": "gene", "entity_name": "PDCD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [ "umccr" ], "panel": { "id": 243, "hash_id": null, "name": "Immune_markers_WTS_UMCCR", "disease_group": "Cancer", "disease_sub_group": "", "description": "Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of immune markers used to assess pre-existing anti-cancer immunity and likelihood of response to immunotherapy. This set of genes is used in UMCCR WTS report \"Immune markers\" section\r\n\r\nSource: https://www.omniseq.com\r\n\r\nGithub: https://github.com/umccr/RNAsum", "status": "public", "version": "0.77", "version_created": "2025-11-03T15:30:48.145923+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 71, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "B37" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3033", "gene_name": "atrophin 1", "omim_gene": [ "607462" ], "alias_name": null, "gene_symbol": "ATN1", "hgnc_symbol": "ATN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7033626-7051484", "ensembl_id": "ENSG00000111676" } }, "GRch38": { "90": { "location": "12:6924463-6942321", "ensembl_id": "ENSG00000111676" } } }, "hgnc_date_symbol_changed": "2005-03-17" }, "entity_type": "gene", "entity_name": "ATN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30827498" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494" ], "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": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Kv4.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6237", "gene_name": "potassium voltage-gated channel subfamily D member 1", "omim_gene": [ "300281" ], "alias_name": null, "gene_symbol": "KCND1", "hgnc_symbol": "KCND1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48818639-48827976", "ensembl_id": "ENSG00000102057" } }, "GRch38": { "90": { "location": "X:48961378-48971569", "ensembl_id": "ENSG00000102057" } } }, "hgnc_date_symbol_changed": "1991-08-13" }, "entity_type": "gene", "entity_name": "KCND1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38772379" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, KCND1-related" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC14161" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28214", "gene_name": "FERM domain containing 5", "omim_gene": [ "616309" ], "alias_name": null, "gene_symbol": "FRMD5", "hgnc_symbol": "FRMD5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:44162962-44487450", "ensembl_id": "ENSG00000171877" } }, "GRch38": { "90": { "location": "15:43870761-44195252", "ensembl_id": "ENSG00000171877" } } }, "hgnc_date_symbol_changed": "2005-07-20" }, "entity_type": "gene", "entity_name": "FRMD5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36206744" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094" ], "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": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "osterix", "OSX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17321", "gene_name": "Sp7 transcription factor", "omim_gene": [ "606633" ], "alias_name": null, "gene_symbol": "SP7", "hgnc_symbol": "SP7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:53720362-53739099", "ensembl_id": "ENSG00000170374" } }, "GRch38": { "90": { "location": "12:53326575-53345315", "ensembl_id": "ENSG00000170374" } } }, "hgnc_date_symbol_changed": "2002-09-23" }, "entity_type": "gene", "entity_name": "SP7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Osteogenesis imperfecta, type XII", "OMIM # 613849" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Med24", "SRB6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11477", "gene_name": "mediator complex subunit 22", "omim_gene": [ "185641" ], "alias_name": null, "gene_symbol": "MED22", "hgnc_symbol": "MED22", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:136205160-136214986", "ensembl_id": "ENSG00000148297" } }, "GRch38": { "90": { "location": "9:133338323-133348131", "ensembl_id": "ENSG00000148297" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "MED22", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Amber", "Other" ], "phenotypes": [ "complex neurodevelopmental disorder MONDO:0100038" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TFII-I", "BAP-135", "SPIN", "BTKAP1", "DIWS", "IB291" ], "biotype": null, "hgnc_id": "HGNC:4659", "gene_name": "general transcription factor IIi", "omim_gene": [ "601679" ], "alias_name": null, "gene_symbol": "GTF2I", "hgnc_symbol": "GTF2I", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:74071994-74175026", "ensembl_id": "ENSG00000077809" } }, "GRch38": { "90": { "location": "7:74657667-74760692", "ensembl_id": "ENSG00000263001" } } }, "hgnc_date_symbol_changed": "1997-09-12" }, "entity_type": "gene", "entity_name": "GTF2I", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "40962490" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, GTF2I-related" ], "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": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:177", "gene_name": "aminoacylase 1", "omim_gene": [ "104620" ], "alias_name": null, "gene_symbol": "ACY1", "hgnc_symbol": "ACY1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:52009066-52023213", "ensembl_id": "ENSG00000243989" } }, "GRch38": { "90": { "location": "3:51983278-51989202", "ensembl_id": "ENSG00000243989" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ACY1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16274666", "16465618", "17562838", "24117009" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Aminoacylase 1 deficiency, MIM# 609924" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSPC133" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25006", "gene_name": "methyltransferase like 5", "omim_gene": null, "alias_name": null, "gene_symbol": "METTL5", "hgnc_symbol": "METTL5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:170666591-170681441", "ensembl_id": "ENSG00000138382" } }, "GRch38": { "90": { "location": "2:169810081-169824931", "ensembl_id": "ENSG00000138382" } } }, "hgnc_date_symbol_changed": "2005-04-14" }, "entity_type": "gene", "entity_name": "METTL5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29302074", "31564433" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 72, MIM#\t618665" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ZNF198L2", "DXS6673E", "KIAA0385", "MYM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13054", "gene_name": "zinc finger MYM-type containing 3", "omim_gene": [ "300061" ], "alias_name": null, "gene_symbol": "ZMYM3", "hgnc_symbol": "ZMYM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:70459474-70474996", "ensembl_id": "ENSG00000147130" } }, "GRch38": { "90": { "location": "X:71239624-71255146", "ensembl_id": "ENSG00000147130" } } }, "hgnc_date_symbol_changed": "2005-12-19" }, "entity_type": "gene", "entity_name": "ZMYM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24721225", "36586412" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Intellectual developmental disorder, X-linked 112, MIM# 301111" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "B120", "P270", "C10rf4", "BAF250", "BAF250a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11110", "gene_name": "AT-rich interaction domain 1A", "omim_gene": [ "603024" ], "alias_name": null, "gene_symbol": "ARID1A", "hgnc_symbol": "ARID1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:27022524-27108595", "ensembl_id": "ENSG00000117713" } }, "GRch38": { "90": { "location": "1:26693236-26782104", "ensembl_id": "ENSG00000117713" } } }, "hgnc_date_symbol_changed": "2004-01-30" }, "entity_type": "gene", "entity_name": "ARID1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22426308", "23929686", "32888375" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Coffin-Siris" ], "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": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NY-CO-8", "CCCAP", "SLSN7", "NPHP10", "BBS16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10671", "gene_name": "serologically defined colon cancer antigen 8", "omim_gene": [ "613524" ], "alias_name": [ "centrosomal colon cancer autoantigen protein", "Bardet-Biedl syndrome 16", "nephrocystin 10", "Senior-Loken syndrome 7" ], "gene_symbol": "SDCCAG8", "hgnc_symbol": "SDCCAG8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:243419320-243663394", "ensembl_id": "ENSG00000054282" } }, "GRch38": { "90": { "location": "1:243256034-243500092", "ensembl_id": "ENSG00000054282" } } }, "hgnc_date_symbol_changed": "1999-08-25" }, "entity_type": "gene", "entity_name": "SDCCAG8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Red", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 16, 615993" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4135", "gene_name": "galactose-1-phosphate uridylyltransferase", "omim_gene": [ "606999" ], "alias_name": null, "gene_symbol": "GALT", "hgnc_symbol": "GALT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:34638130-34651032", "ensembl_id": "ENSG00000213930" } }, "GRch38": { "90": { "location": "9:34638133-34651035", "ensembl_id": "ENSG00000213930" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GALT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30718057" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Galactosemia,\tMIM#230400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.344", "version_created": "2026-04-06T11:07:45.734922+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ45472" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4235", "gene_name": "glial fibrillary acidic protein", "omim_gene": [ "137780" ], "alias_name": [ "intermediate filament protein" ], "gene_symbol": "GFAP", "hgnc_symbol": "GFAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42982376-42994305", "ensembl_id": "ENSG00000131095" } }, "GRch38": { "90": { "location": "17:44903161-44916937", "ensembl_id": "ENSG00000131095" } } }, "hgnc_date_symbol_changed": "1989-12-07" }, "entity_type": "gene", "entity_name": "GFAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Alexander disease, MIM#\t203450" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10597" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25552", "gene_name": "ring finger protein 220", "omim_gene": [ "616136" ], "alias_name": null, "gene_symbol": "RNF220", "hgnc_symbol": "RNF220", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:44870866-45117396", "ensembl_id": "ENSG00000187147" } }, "GRch38": { "90": { "location": "1:44405194-44651724", "ensembl_id": "ENSG00000187147" } } }, "hgnc_date_symbol_changed": "2008-06-13" }, "entity_type": "gene", "entity_name": "RNF220", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33964137", "10881263" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688", "Leukodystrophy", "CNS hypomyelination", "Ataxia", "Intellectual disability", "Sensorineural hearing impairment", "Elevated hepatic transaminases", "Hepatic fibrosis", "Dilated cardiomyopathy", "Spastic paraplegia", "Dysarthria", "Abnormality of the corpus callosum" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20731", "gene_name": "G protein subunit beta 4", "omim_gene": [ "610863" ], "alias_name": [ "transducin beta chain 4" ], "gene_symbol": "GNB4", "hgnc_symbol": "GNB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:179116990-179169378", "ensembl_id": "ENSG00000114450" } }, "GRch38": { "90": { "location": "3:179396089-179451590", "ensembl_id": "ENSG00000114450" } } }, "hgnc_date_symbol_changed": "2003-03-27" }, "entity_type": "gene", "entity_name": "GNB4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23434117", "28642160", "27908631" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185", "MONDO:0014074", "HMSN" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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", "Expert Review", "Royal Melbourne Hospital" ], "phenotypes": [ "Ellis-van Creveld syndrome, MIM# 225500", "Weyers acrofacial dysostosis, MIM# 193530" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3089, "hash_id": null, "name": "Ectodermal Dysplasia", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.", "status": "public", "version": "0.110", "version_created": "2026-03-31T16:43:36.155380+11:00", "relevant_disorders": [ "Ectodermal dysplasia", "HP:0000968" ], "stats": { "number_of_genes": 61, "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": [ "DKFZp434A2417", "KIAA1996" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23338", "gene_name": "acyl-CoA binding domain containing 5", "omim_gene": [ "616618" ], "alias_name": null, "gene_symbol": "ACBD5", "hgnc_symbol": "ACBD5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:27484146-27531059", "ensembl_id": "ENSG00000107897" } }, "GRch38": { "90": { "location": "10:27195214-27242130", "ensembl_id": "ENSG00000107897" } } }, "hgnc_date_symbol_changed": "2003-11-11" }, "entity_type": "gene", "entity_name": "ACBD5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23105016", "27799409", "33427402" ], "evidence": [ "Expert Review Green", "RetNet", "Expert list" ], "phenotypes": [ "Retinal dystrophy with leukodystrophy (MIM#618863)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3099, "hash_id": null, "name": "Syndromic Retinopathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.", "status": "public", "version": "0.256", "version_created": "2026-03-31T19:05:29.271183+11:00", "relevant_disorders": [ "Retinopathy", "HP:0000488" ], "stats": { "number_of_genes": 138, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GCS1", "CWH41", "DER7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24862", "gene_name": "mannosyl-oligosaccharide glucosidase", "omim_gene": [ "601336" ], "alias_name": [ "glucosidase I", "processing A-glucosidase I" ], "gene_symbol": "MOGS", "hgnc_symbol": "MOGS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74688184-74692537", "ensembl_id": "ENSG00000115275" } }, "GRch38": { "90": { "location": "2:74461057-74465410", "ensembl_id": "ENSG00000115275" } } }, "hgnc_date_symbol_changed": "2009-03-24" }, "entity_type": "gene", "entity_name": "MOGS", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31925597", "30587846", "33058492" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIb, MIM# 606056" ], "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": [] }, { "gene_data": { "alias": [ "LH1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9081", "gene_name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 1", "omim_gene": [ "153454" ], "alias_name": [ "lysyl hydroxlase 1" ], "gene_symbol": "PLOD1", "hgnc_symbol": "PLOD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:11994262-12035595", "ensembl_id": "ENSG00000083444" } }, "GRch38": { "90": { "location": "1:11934205-11975538", "ensembl_id": "ENSG00000083444" } } }, "hgnc_date_symbol_changed": "2004-12-14" }, "entity_type": "gene", "entity_name": "PLOD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ehlers-Danlos syndrome, type VI, 225400 (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:12774", "gene_name": "Wnt family member 1", "omim_gene": [ "164820" ], "alias_name": null, "gene_symbol": "WNT1", "hgnc_symbol": "WNT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49372398-49375459", "ensembl_id": "ENSG00000125084" } }, "GRch38": { "90": { "location": "12:48978453-48981676", "ensembl_id": "ENSG00000125084" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "WNT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Osteogenesis imperfecta, type XV, 615220 (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": [ "FRABP", "frabin", "ZFYVE6", "CMT4H" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19125", "gene_name": "FYVE, RhoGEF and PH domain containing 4", "omim_gene": [ "611104" ], "alias_name": null, "gene_symbol": "FGD4", "hgnc_symbol": "FGD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:32552463-32798984", "ensembl_id": "ENSG00000139132" } }, "GRch38": { "90": { "location": "12:32399529-32646050", "ensembl_id": "ENSG00000139132" } } }, "hgnc_date_symbol_changed": "2003-11-25" }, "entity_type": "gene", "entity_name": "FGD4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Charcot-Marie-Tooth disease, type 4H, 609311 (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": [ "HFH-11", "trident", "HNF-3", "INS-1", "MPP2", "MPHOSPH2", "TGT3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3818", "gene_name": "forkhead box M1", "omim_gene": [ "602341" ], "alias_name": [ "M-phase phosphoprotein 2" ], "gene_symbol": "FOXM1", "hgnc_symbol": "FOXM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:2966847-2986206", "ensembl_id": "ENSG00000111206" } }, "GRch38": { "90": { "location": "12:2857681-2877155", "ensembl_id": "ENSG00000111206" } } }, "hgnc_date_symbol_changed": "1997-07-25" }, "entity_type": "gene", "entity_name": "FOXM1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38969938" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Moyamoya disease MONDO:0016820" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3141, "hash_id": null, "name": "Stroke", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.", "status": "public", "version": "1.48", "version_created": "2026-03-31T17:20:59.161732+11:00", "relevant_disorders": [ "Stroke", "HP:0001297" ], "stats": { "number_of_genes": 75, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5173", "gene_name": "HRas proto-oncogene, GTPase", "omim_gene": [ "190020" ], "alias_name": null, "gene_symbol": "HRAS", "hgnc_symbol": "HRAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:532242-537287", "ensembl_id": "ENSG00000174775" } }, "GRch38": { "90": { "location": "11:532242-537287", "ensembl_id": "ENSG00000174775" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HRAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "31160609", "31637524", "30208313" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Vascular malformation/overgrowth syndromes", "Extracranial arteriovenous malformations" ], "mode_of_inheritance": "Other", "tags": [ "somatic" ], "panel": { "id": 3181, "hash_id": null, "name": "Vascular Malformations_Somatic", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes that cause vascular malformations as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nIf a germline disorder is suspected, please use the Vascular Malformations_Germline panel.", "status": "public", "version": "1.16", "version_created": "2025-10-02T12:54:21.549968+10:00", "relevant_disorders": [ "Abnormal vascular morphology HP:0025015" ], "stats": { "number_of_genes": 25, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11188", "gene_name": "SOS Ras/Rho guanine nucleotide exchange factor 2", "omim_gene": [ "601247" ], "alias_name": null, "gene_symbol": "SOS2", "hgnc_symbol": "SOS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:50583847-50698276", "ensembl_id": "ENSG00000100485" } }, "GRch38": { "90": { "location": "14:50117120-50231558", "ensembl_id": "ENSG00000100485" } } }, "hgnc_date_symbol_changed": "1993-10-27" }, "entity_type": "gene", "entity_name": "SOS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other - please provide details in the comments", "publications": [ "26173643", "25795793" ], "evidence": [ "Expert Review Green", "London South GLH", "Expert List", "NHS GMS" ], "phenotypes": [ "Noonan syndrome 9 616559", "Noonan syndrome 9" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9725", "gene_name": "glycogen phosphorylase L", "omim_gene": [ "613741" ], "alias_name": [ "Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form" ], "gene_symbol": "PYGL", "hgnc_symbol": "PYGL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:51324609-51411454", "ensembl_id": "ENSG00000100504" } }, "GRch38": { "90": { "location": "14:50857891-50944736", "ensembl_id": "ENSG00000100504" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PYGL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Glycogen storage disease VI" ], "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": [ "EDA1", "XLHED", "HED", "XHED", "ED1-A1", "ED1-A2", "EDA-A1", "EDA-A2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3157", "gene_name": "ectodysplasin A", "omim_gene": [ "300451" ], "alias_name": null, "gene_symbol": "EDA", "hgnc_symbol": "EDA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:68835911-69259319", "ensembl_id": "ENSG00000158813" } }, "GRch38": { "90": { "location": "X:69616067-70039469", "ensembl_id": "ENSG00000158813" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "gene", "entity_name": "EDA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Ectodermal dysplasia, hypohidrotic" ], "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": [ "Raf-1", "c-Raf", "CRAF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9829", "gene_name": "Raf-1 proto-oncogene, serine/threonine kinase", "omim_gene": [ "164760" ], "alias_name": [ "C-Raf proto-oncogene, serine/threonine kinase" ], "gene_symbol": "RAF1", "hgnc_symbol": "RAF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:12625100-12705725", "ensembl_id": "ENSG00000132155" } }, "GRch38": { "90": { "location": "3:12583601-12664226", "ensembl_id": "ENSG00000132155" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "RAF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Noonan 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": [ "FATP4", "ACSVL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10998", "gene_name": "solute carrier family 27 member 4", "omim_gene": [ "604194" ], "alias_name": null, "gene_symbol": "SLC27A4", "hgnc_symbol": "SLC27A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131102925-131123749", "ensembl_id": "ENSG00000167114" } }, "GRch38": { "90": { "location": "9:128340646-128361470", "ensembl_id": "ENSG00000167114" } } }, "hgnc_date_symbol_changed": "1999-08-20" }, "entity_type": "gene", "entity_name": "SLC27A4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Ichthyosis prematurity 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": [ "OCAIA", "OCA1A", "OCA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12442", "gene_name": "tyrosinase", "omim_gene": [ "606933" ], "alias_name": [ "oculocutaneous albinism IA" ], "gene_symbol": "TYR", "hgnc_symbol": "TYR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:88910620-89028927", "ensembl_id": "ENSG00000077498" } }, "GRch38": { "90": { "location": "11:89177452-89295759", "ensembl_id": "ENSG00000077498" } } }, "hgnc_date_symbol_changed": "1988-08-16" }, "entity_type": "gene", "entity_name": "TYR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Albinism, oculocutaneous 1" ], "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": [ "ACONM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:118", "gene_name": "aconitase 2", "omim_gene": [ "100850" ], "alias_name": [ "aconitate hydratase, mitochondrial", "mitochondrial aconitase" ], "gene_symbol": "ACO2", "hgnc_symbol": "ACO2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:41865129-41924993", "ensembl_id": "ENSG00000100412" } }, "GRch38": { "90": { "location": "22:41469125-41528989", "ensembl_id": "ENSG00000100412" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ACO2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Cerebellar-retinal degeneration, infantile" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "H2-Bf" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1037", "gene_name": "complement factor B", "omim_gene": [ "138470" ], "alias_name": null, "gene_symbol": "CFB", "hgnc_symbol": "CFB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31895475-31919861", "ensembl_id": "ENSG00000243649" } }, "GRch38": { "90": { "location": "6:31945650-31952084", "ensembl_id": "ENSG00000243649" } } }, "hgnc_date_symbol_changed": "2006-02-10" }, "entity_type": "gene", "entity_name": "CFB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Haemolytic uraemic 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": [ "FLJ25461", "C9orf145", "C9orf143", "DKFZp686M16108", "TILRR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23399", "gene_name": "FRAS1 related extracellular matrix 1", "omim_gene": [ "608944" ], "alias_name": null, "gene_symbol": "FREM1", "hgnc_symbol": "FREM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:14734664-14910993", "ensembl_id": "ENSG00000164946" } }, "GRch38": { "90": { "location": "9:14734666-14910995", "ensembl_id": "ENSG00000164946" } } }, "hgnc_date_symbol_changed": "2004-12-15" }, "entity_type": "gene", "entity_name": "FREM1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Manitoba oculotrichoanal 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": [ "FAAH", "FLJ25287" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21197", "gene_name": "fatty acid 2-hydroxylase", "omim_gene": [ "611026" ], "alias_name": [ "fatty acid hydroxylase" ], "gene_symbol": "FA2H", "hgnc_symbol": "FA2H", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:74746853-74808729", "ensembl_id": "ENSG00000103089" } }, "GRch38": { "90": { "location": "16:74712955-74774831", "ensembl_id": "ENSG00000103089" } } }, "hgnc_date_symbol_changed": "2003-10-31" }, "entity_type": "gene", "entity_name": "FA2H", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "GeneReviews", "Expert Review Green" ], "phenotypes": [ "Fatty acid hydroxylase-associated neurodegeneration (FAHN)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3438, "hash_id": null, "name": "Neurodegeneration with brain iron accumulation", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that are associated with neurodegeneration with brain iron accumulation (NBIA) disorders. Depending on the clinical features present, consider applying additional panels such as the Dystonia Superpanel or Mitochondrial Disorders, which contain overlapping differential diagnoses.", "status": "public", "version": "1.3", "version_created": "2025-11-25T11:21:32.539811+11:00", "relevant_disorders": [ "Iron accumulation in brain", "HP:0012675" ], "stats": { "number_of_genes": 24, "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:9726", "gene_name": "glycogen phosphorylase, muscle associated", "omim_gene": [ "608455" ], "alias_name": [ "McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form", "myophosphorylase" ], "gene_symbol": "PYGM", "hgnc_symbol": "PYGM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64513861-64527769", "ensembl_id": "ENSG00000068976" } }, "GRch38": { "90": { "location": "11:64746389-64760297", "ensembl_id": "ENSG00000068976" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PYGM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "McArdle disease 232600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "0.10", "version_created": "2023-03-02T14:41:08.610876+11:00", "relevant_disorders": [ "Hyperammonaemia", "HP:0001987" ], "stats": { "number_of_genes": 43, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hFrtz", "fritz", "BBS15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28027", "gene_name": "WD repeat containing planar cell polarity effector", "omim_gene": [ "613580" ], "alias_name": null, "gene_symbol": "WDPCP", "hgnc_symbol": "WDPCP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:63348518-64054977", "ensembl_id": "ENSG00000143951" } }, "GRch38": { "90": { "location": "2:63121383-63827843", "ensembl_id": "ENSG00000143951" } } }, "hgnc_date_symbol_changed": "2011-02-01" }, "entity_type": "gene", "entity_name": "WDPCP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20671153", "25427950", "32055034", "29588463", "28289185" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "KidGen_CilioNephronop v38.1.0" ], "phenotypes": [ "Bardet-Biedl syndrome 15, MIM# 615992", "OFD", "Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085" ], "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": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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": [ "P160", "PAP2", "FLJ37886", "Pol5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7546", "gene_name": "MYB binding protein 1a", "omim_gene": [ "604885" ], "alias_name": [ "p53-activated protein-2" ], "gene_symbol": "MYBBP1A", "hgnc_symbol": "MYBBP1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:4442192-4458926", "ensembl_id": "ENSG00000132382" } }, "GRch38": { "90": { "location": "17:4538897-4555631", "ensembl_id": "ENSG00000132382" } } }, "hgnc_date_symbol_changed": "1999-06-25" }, "entity_type": "gene", "entity_name": "MYBBP1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39191491", "28425981" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hydrops fetalis, MONDO:0015193, MYBBP1A-related" ], "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": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:13478", "gene_name": "ubiquitin protein ligase E3B", "omim_gene": [ "608047" ], "alias_name": null, "gene_symbol": "UBE3B", "hgnc_symbol": "UBE3B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:109915207-109974507", "ensembl_id": "ENSG00000151148" } }, "GRch38": { "90": { "location": "12:109477402-109536705", "ensembl_id": "ENSG00000151148" } } }, "hgnc_date_symbol_changed": "2004-03-02" }, "entity_type": "gene", "entity_name": "UBE3B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23200864", "23200864", "34012380", "32949109" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Kaufman oculocerebrofacial syndrome, MIM# 244450", "MONDO:0009485" ], "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": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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": [ "hCG_1745121", "IspD", "Nip" ], "biotype": "protein_coding", "hgnc_id": "HGNC:37276", "gene_name": "isoprenoid synthase domain containing", "omim_gene": [ "614631" ], "alias_name": [ "notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)" ], "gene_symbol": "ISPD", "hgnc_symbol": "ISPD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:16130817-16460947", "ensembl_id": "ENSG00000214960" } }, "GRch38": { "90": { "location": "7:16087527-16421322", "ensembl_id": "ENSG00000214960" } } }, "hgnc_date_symbol_changed": "2009-10-02" }, "entity_type": "gene", "entity_name": "ISPD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22522421", "22522420", "23217329" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "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": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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": [ "RBIG1", "FLJ21044", "HGPS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13433", "gene_name": "roundabout guidance receptor 3", "omim_gene": [ "608630" ], "alias_name": null, "gene_symbol": "ROBO3", "hgnc_symbol": "ROBO3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:124735282-124751366", "ensembl_id": "ENSG00000154134" } }, "GRch38": { "90": { "location": "11:124865386-124881470", "ensembl_id": "ENSG00000154134" } } }, "hgnc_date_symbol_changed": "2004-05-10" }, "entity_type": "gene", "entity_name": "ROBO3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16525029", "15105459" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790", "Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313" ], "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": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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": [ "MAN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28887", "gene_name": "LEM domain containing 3", "omim_gene": [ "607844" ], "alias_name": null, "gene_symbol": "LEMD3", "hgnc_symbol": "LEMD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:65563351-65642107", "ensembl_id": "ENSG00000174106" } }, "GRch38": { "90": { "location": "12:65169571-65248327", "ensembl_id": "ENSG00000174106" } } }, "hgnc_date_symbol_changed": "2004-11-01" }, "entity_type": "gene", "entity_name": "LEMD3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Buschke-Ollendorff syndrome MIM#166700", "Osteopoikilosis with or without melorheostosis MIM#166700" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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": [ "D11S812E", "AN", "WAGR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8620", "gene_name": "paired box 6", "omim_gene": [ "607108" ], "alias_name": [ "aniridia, keratitis" ], "gene_symbol": "PAX6", "hgnc_symbol": "PAX6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:31806340-31839509", "ensembl_id": "ENSG00000007372" } }, "GRch38": { "90": { "location": "11:31784779-31818062", "ensembl_id": "ENSG00000007372" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PAX6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31700164", "30986449", "29930474", "22171686", "12731001" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microphthalmia", "Coloboma, ocular, MIM# 120200" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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": [ "OPHN4", "TIGIRR-2", "IL1R8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5996", "gene_name": "interleukin 1 receptor accessory protein like 1", "omim_gene": [ "300206" ], "alias_name": null, "gene_symbol": "IL1RAPL1", "hgnc_symbol": "IL1RAPL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:28605516-29974840", "ensembl_id": "ENSG00000169306" } }, "GRch38": { "90": { "location": "X:28587399-29956723", "ensembl_id": "ENSG00000169306" } } }, "hgnc_date_symbol_changed": "1999-09-07" }, "entity_type": "gene", "entity_name": "IL1RAPL1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34452636", "27470653", "21484992", "18801879", "18801879" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Intellectual developmental disorder, X-linked 21 MIM#300143" ], "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": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "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": [ "ARMS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29508", "gene_name": "kinase D interacting substrate 220", "omim_gene": [ "615759" ], "alias_name": [ "ankyrin repeat-rich membrane-spanning protein" ], "gene_symbol": "KIDINS220", "hgnc_symbol": "KIDINS220", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:8865408-8977760", "ensembl_id": "ENSG00000134313" } }, "GRch38": { "90": { "location": "2:8721081-8837630", "ensembl_id": "ENSG00000134313" } } }, "hgnc_date_symbol_changed": "2008-11-25" }, "entity_type": "gene", "entity_name": "KIDINS220", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27005418", "29667355", "33763417" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3764, "hash_id": null, "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.", "status": "public", "version": "1.30", "version_created": "2026-03-18T15:16:42.995334+11:00", "relevant_disorders": [ "Obesity", "HP:0001513" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:967", "gene_name": "Bardet-Biedl syndrome 2", "omim_gene": [ "606151" ], "alias_name": null, "gene_symbol": "BBS2", "hgnc_symbol": "BBS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:56500748-56554195", "ensembl_id": "ENSG00000125124" } }, "GRch38": { "90": { "location": "16:56466836-56520283", "ensembl_id": "ENSG00000125124" } } }, "hgnc_date_symbol_changed": "1993-10-26" }, "entity_type": "gene", "entity_name": "BBS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11567139", "16823392", "28143435" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 2, MIM# 615981" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3764, "hash_id": null, "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.", "status": "public", "version": "1.30", "version_created": "2026-03-18T15:16:42.995334+11:00", "relevant_disorders": [ "Obesity", "HP:0001513" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp761H079", "JBTS8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25419", "gene_name": "ADP ribosylation factor like GTPase 13B", "omim_gene": [ "608922" ], "alias_name": null, "gene_symbol": "ARL13B", "hgnc_symbol": "ARL13B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:93698983-93774512", "ensembl_id": "ENSG00000169379" } }, "GRch38": { "90": { "location": "3:93980139-94055668", "ensembl_id": "ENSG00000169379" } } }, "hgnc_date_symbol_changed": "2005-11-18" }, "entity_type": "gene", "entity_name": "ARL13B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "38219074", "18674751", "25138100", "26092869", "27894351", "29255182" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Joubert syndrome 8, 612291 (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": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DRC4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4166", "gene_name": "growth arrest specific 8", "omim_gene": [ "605178" ], "alias_name": null, "gene_symbol": "GAS8", "hgnc_symbol": "GAS8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:90086037-90111383", "ensembl_id": "ENSG00000141013" } }, "GRch38": { "90": { "location": "16:90019629-90044975", "ensembl_id": "ENSG00000141013" } } }, "hgnc_date_symbol_changed": "2003-01-17" }, "entity_type": "gene", "entity_name": "GAS8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "38873586", "26387594", "27120127" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ciliary dyskinesia, primary, 33 MIM#616726" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JTK13", "CD221", "IGFIR", "MGC18216", "IGFR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5465", "gene_name": "insulin like growth factor 1 receptor", "omim_gene": [ "147370" ], "alias_name": null, "gene_symbol": "IGF1R", "hgnc_symbol": "IGF1R", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:99192200-99507759", "ensembl_id": "ENSG00000140443" } }, "GRch38": { "90": { "location": "15:98648971-98964530", "ensembl_id": "ENSG00000140443" } } }, "hgnc_date_symbol_changed": "1988-07-07" }, "entity_type": "gene", "entity_name": "IGF1R", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31586944", "14657428", "25040157", "23045302", "26252249", "15928254", "22130793", "17264177" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Insulin-like growth factor I, resistance to, 270450 (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": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GC1", "FLJ13044", "NET44", "EIEE3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19954", "gene_name": "solute carrier family 25 member 22", "omim_gene": [ "609302" ], "alias_name": null, "gene_symbol": "SLC25A22", "hgnc_symbol": "SLC25A22", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:790475-798316", "ensembl_id": "ENSG00000177542" } }, "GRch38": { "90": { "location": "11:790475-798333", "ensembl_id": "ENSG00000177542" } } }, "hgnc_date_symbol_changed": "2002-12-10" }, "entity_type": "gene", "entity_name": "SLC25A22", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15592994", "19780765", "24596948", "33821742", "33342683", "31285529" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 3, MIM#609304" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RECQL2", "RECQ3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12791", "gene_name": "Werner syndrome RecQ like helicase", "omim_gene": [ "604611" ], "alias_name": null, "gene_symbol": "WRN", "hgnc_symbol": "WRN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:30891317-31031285", "ensembl_id": "ENSG00000165392" } }, "GRch38": { "90": { "location": "8:31033801-31173769", "ensembl_id": "ENSG00000165392" } } }, "hgnc_date_symbol_changed": "1991-08-21" }, "entity_type": "gene", "entity_name": "WRN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8968742", "20301687" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Werner syndrome, MIM#277700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PDHE1B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8808", "gene_name": "pyruvate dehydrogenase E1 beta subunit", "omim_gene": [ "179060" ], "alias_name": null, "gene_symbol": "PDHB", "hgnc_symbol": "PDHB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:58413357-58419584", "ensembl_id": "ENSG00000168291" } }, "GRch38": { "90": { "location": "3:58427630-58433857", "ensembl_id": "ENSG00000168291" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "PDHB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Pyruvate dehydrogenase E1-beta deficiency, MIM#\t614111" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "metabolic" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZP434P106", "dJ965G21.2", "BEM46L2", "ABHD12A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15868", "gene_name": "abhydrolase domain containing 12", "omim_gene": [ "613599" ], "alias_name": null, "gene_symbol": "ABHD12", "hgnc_symbol": "ABHD12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:25275379-25371619", "ensembl_id": "ENSG00000100997" } }, "GRch38": { "90": { "location": "20:25294743-25390983", "ensembl_id": "ENSG00000100997" } } }, "hgnc_date_symbol_changed": "2006-03-10" }, "entity_type": "gene", "entity_name": "ABHD12", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12399", "gene_name": "myotilin", "omim_gene": [ "604103" ], "alias_name": null, "gene_symbol": "MYOT", "hgnc_symbol": "MYOT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:137203480-137223540", "ensembl_id": "ENSG00000120729" } }, "GRch38": { "90": { "location": "5:137867791-137887851", "ensembl_id": "ENSG00000120729" } } }, "hgnc_date_symbol_changed": "2005-09-07" }, "entity_type": "gene", "entity_name": "MYOT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Myofibrillar myopathy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "VIPAR", "VPS16B", "SPE-39", "SPE39", "hSPE-39" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20347", "gene_name": "VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog", "omim_gene": [ "613401" ], "alias_name": [ "VPS33B interacting protein, apical-basolateral polarity regulator" ], "gene_symbol": "VIPAS39", "hgnc_symbol": "VIPAS39", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:77893018-77924295", "ensembl_id": "ENSG00000151445" } }, "GRch38": { "90": { "location": "14:77426675-77457952", "ensembl_id": "ENSG00000151445" } } }, "hgnc_date_symbol_changed": "2012-07-24" }, "entity_type": "gene", "entity_name": "VIPAS39", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "35761207" ], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Arthrogryposis, renal dysfunction, and cholestasis MIM#613404" ], "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": [ "bK3184A7.3", "NHL", "DKFZP434C013", "KIAA1088", "RTEL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15888", "gene_name": "regulator of telomere elongation helicase 1", "omim_gene": [ "608833" ], "alias_name": null, "gene_symbol": "RTEL1", "hgnc_symbol": "RTEL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:62289163-62328416", "ensembl_id": "ENSG00000258366" } }, "GRch38": { "90": { "location": "20:63657810-63696253", "ensembl_id": "ENSG00000258366" } } }, "hgnc_date_symbol_changed": "2004-10-29" }, "entity_type": "gene", "entity_name": "RTEL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23453664" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Dyskeratosis congenita, autosomal recessive 5, MIM#615190" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DMK", "DM1PK", "MDPK", "MT-PK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2933", "gene_name": "DM1 protein kinase", "omim_gene": [ "605377" ], "alias_name": [ "dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog" ], "gene_symbol": "DMPK", "hgnc_symbol": "DMPK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46272975-46285810", "ensembl_id": "ENSG00000104936" } }, "GRch38": { "90": { "location": "19:45769717-45782552", "ensembl_id": "ENSG00000104936" } } }, "hgnc_date_symbol_changed": "1997-10-10" }, "entity_type": "str", "entity_name": "DMPK_DM1_CTG", "confidence_level": "3", "penetrance": null, "publications": [ "20301344", "29325606", "1546325" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Myotonic dystrophy 1 MIM#160900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CTG", "chromosome": "19", "grch37_coordinates": [ 46273463, 46273522 ], "grch38_coordinates": [ 45770205, 45770264 ], "normal_repeats": 34, "pathogenic_repeats": 50, "tags": [ "adult-onset", "paediatric-onset" ], "panel": { "id": 3597, "hash_id": null, "name": "Repeat Disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.", "status": "public", "version": "0.272", "version_created": "2026-01-02T15:16:39.779953+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 76, "number_of_regions": 0 }, "types": [ { "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" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] } } ] }