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GET /api/v1/entities/?format=api&page=204
{ "count": 36056, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=205", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=203", "results": [ { "gene_data": { "alias": [ "MGC16925", "DKFZp434D229" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16491", "gene_name": "p53-induced death domain protein 1", "omim_gene": [ "605247" ], "alias_name": null, "gene_symbol": "PIDD1", "hgnc_symbol": "PIDD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:799179-809753", "ensembl_id": "ENSG00000177595" } }, "GRch38": { "90": { "location": "11:799179-809753", "ensembl_id": "ENSG00000177595" } } }, "hgnc_date_symbol_changed": "2014-05-01" }, "entity_type": "gene", "entity_name": "PIDD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28397838", "29302074", "33414379", "34163010" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 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": [] }, { "gene_data": { "alias": [ "HSS", "FLJ11729", "PKAN", "HARP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15894", "gene_name": "pantothenate kinase 2", "omim_gene": [ "606157" ], "alias_name": [ "Hallervorden-Spatz syndrome" ], "gene_symbol": "PANK2", "hgnc_symbol": "PANK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:3869486-3907605", "ensembl_id": "ENSG00000125779" } }, "GRch38": { "90": { "location": "20:3888839-3929882", "ensembl_id": "ENSG00000125779" } } }, "hgnc_date_symbol_changed": "2002-09-06" }, "entity_type": "gene", "entity_name": "PANK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24600523", "23447832", "19480328" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodegeneration with brain iron accumulation 1 (MIM#234200)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [ "ALS19", "HER4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3432", "gene_name": "erb-b2 receptor tyrosine kinase 4", "omim_gene": [ "600543" ], "alias_name": [ "human epidermal growth factor receptor 4" ], "gene_symbol": "ERBB4", "hgnc_symbol": "ERBB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:212240446-213403565", "ensembl_id": "ENSG00000178568" } }, "GRch38": { "90": { "location": "2:211375717-212538841", "ensembl_id": "ENSG00000178568" } } }, "hgnc_date_symbol_changed": "1995-09-07" }, "entity_type": "gene", "entity_name": "ERBB4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24119685", "28889094" ], "evidence": [ "Expert Review Amber", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis 19 MIM#615515" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "NACP", "PD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11138", "gene_name": "synuclein alpha", "omim_gene": [ "163890" ], "alias_name": [ "non A4 component of amyloid precursor", "alpha-synuclein", "α-synuclein" ], "gene_symbol": "SNCA", "hgnc_symbol": "SNCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:90645250-90759466", "ensembl_id": "ENSG00000145335" } }, "GRch38": { "90": { "location": "4:89724099-89838315", "ensembl_id": "ENSG00000145335" } } }, "hgnc_date_symbol_changed": "1995-01-24" }, "entity_type": "gene", "entity_name": "SNCA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32849182", "26858591", "32740728" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dementia, Lewy body (MIM#127750)", "Parkinson disease 1 (MIM#168601)", "Parkinson disease 4 (MIM#605543)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "SV/CNV" ], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.55", "version_created": "2026-04-17T16:01:21.596122+10:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7882", "gene_name": "notch 2", "omim_gene": [ "600275" ], "alias_name": null, "gene_symbol": "NOTCH2", "hgnc_symbol": "NOTCH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:120454176-120612240", "ensembl_id": "ENSG00000134250" } }, "GRch38": { "90": { "location": "1:119911553-120069626", "ensembl_id": "ENSG00000134250" } } }, "hgnc_date_symbol_changed": "1994-11-10" }, "entity_type": "gene", "entity_name": "NOTCH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Alagille syndrome 2, MIM# 610205" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 36, "hash_id": null, "name": "Alagille syndrome", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "1.0", "version_created": "2020-09-24T21:24:48.443596+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2, "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": [ "KIAA1857", "Lmnt2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14288", "gene_name": "netrin G2", "omim_gene": null, "alias_name": [ "Netrin-G2" ], "gene_symbol": "NTNG2", "hgnc_symbol": "NTNG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:135037334-135119921", "ensembl_id": "ENSG00000196358" } }, "GRch38": { "90": { "location": "9:132161676-132244534", "ensembl_id": "ENSG00000196358" } } }, "hgnc_date_symbol_changed": "2003-12-03" }, "entity_type": "gene", "entity_name": "NTNG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31668703", "31692205" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM#\t618718" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 41, "hash_id": null, "name": "Angelman Rett like syndromes", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "1.15", "version_created": "2026-04-18T18:48:21.864731+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 38, "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": [ "FLJ34154", "KIAA0614" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26611", "gene_name": "HECT domain E3 ubiquitin protein ligase 4", "omim_gene": null, "alias_name": null, "gene_symbol": "HECTD4", "hgnc_symbol": "HECTD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:112597992-112819896", "ensembl_id": "ENSG00000173064" } }, "GRch38": { "90": { "location": "12:112160188-112382439", "ensembl_id": "ENSG00000173064" } } }, "hgnc_date_symbol_changed": "2012-08-14" }, "entity_type": "gene", "entity_name": "HECTD4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 41, "hash_id": null, "name": "Angelman Rett like syndromes", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "1.15", "version_created": "2026-04-18T18:48:21.864731+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 38, "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": [ "CDHF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3036", "gene_name": "desmocollin 2", "omim_gene": [ "125645" ], "alias_name": null, "gene_symbol": "DSC2", "hgnc_symbol": "DSC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:28645940-28682378", "ensembl_id": "ENSG00000134755" } }, "GRch38": { "90": { "location": "18:31058840-31102415", "ensembl_id": "ENSG00000134755" } } }, "hgnc_date_symbol_changed": "1997-05-29" }, "entity_type": "gene", "entity_name": "DSC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17963498", "21062920", "23863954", "17186466", "18957847", "17033975", "28339476", "33831308" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Arrhythmogenic right ventricular dysplasia 11, MIM# 610476", "Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 48, "hash_id": null, "name": "Arrhythmogenic Cardiomyopathy", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Arrhythmogenic Cardiomyopathy' panel and against the current gene-disease curations by the ClinGen ARVC group, 03/08/2020.", "status": "public", "version": "1.0", "version_created": "2026-03-24T16:23:29.666707+11:00", "relevant_disorders": [ "Arrhythmia", "HP:0011675;Cardiomyopathy", "HP:0001638" ], "stats": { "number_of_genes": 19, "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": [ "LZ16", "T13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21316", "gene_name": "ankyrin repeat domain 11", "omim_gene": [ "611192" ], "alias_name": null, "gene_symbol": "ANKRD11", "hgnc_symbol": "ANKRD11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:89334038-89556969", "ensembl_id": "ENSG00000167522" } }, "GRch38": { "90": { "location": "16:89267627-89490561", "ensembl_id": "ENSG00000167522" } } }, "hgnc_date_symbol_changed": "2004-01-15" }, "entity_type": "gene", "entity_name": "ANKRD11", "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": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.249", "version_created": "2026-04-18T18:49:11.555064+10:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RAD10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3433", "gene_name": "ERCC excision repair 1, endonuclease non-catalytic subunit", "omim_gene": [ "126380" ], "alias_name": null, "gene_symbol": "ERCC1", "hgnc_symbol": "ERCC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:45910591-45982086", "ensembl_id": "ENSG00000012061" } }, "GRch38": { "90": { "location": "19:45407333-45478828", "ensembl_id": "ENSG00000012061" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ERCC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Cerebrooculofacioskeletal syndrome 4, MIM#\t610758" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 55, "hash_id": null, "name": "Blepharophimosis", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic blepharophimosis.", "status": "public", "version": "1.3", "version_created": "2025-04-27T09:04:52.368864+10:00", "relevant_disorders": [ "Blepharophimosis", "HP:0000581" ], "stats": { "number_of_genes": 23, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0683", "hCLK2", "TEL2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29099", "gene_name": "telomere maintenance 2", "omim_gene": [ "611140" ], "alias_name": null, "gene_symbol": "TELO2", "hgnc_symbol": "TELO2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1543345-1560458", "ensembl_id": "ENSG00000100726" } }, "GRch38": { "90": { "location": "16:1493344-1510457", "ensembl_id": "ENSG00000100726" } } }, "hgnc_date_symbol_changed": "2006-09-25" }, "entity_type": "gene", "entity_name": "TELO2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37215500", "36797513", "28944240" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "You-Hoover-Fong syndrome, MIM#\t616954" ], "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": [ "MDC4", "PIG-N" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8967", "gene_name": "phosphatidylinositol glycan anchor biosynthesis class N", "omim_gene": [ "606097" ], "alias_name": null, "gene_symbol": "PIGN", "hgnc_symbol": "PIGN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:59710800-59854351", "ensembl_id": "ENSG00000197563" } }, "GRch38": { "90": { "location": "18:61905255-62187118", "ensembl_id": "ENSG00000197563" } } }, "hgnc_date_symbol_changed": "2000-05-11" }, "entity_type": "gene", "entity_name": "PIGN", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "PMID: 27038415", "24852103" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV", "founder" ], "panel": { "id": 69, "hash_id": null, "name": "Congenital diaphragmatic hernia", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with syndromic and non-syndromic congenital diaphragmatic hernia.\r\n\r\nNote pathogenic variants in a broad range of genes have been ascertained in CDH cohorts (e.g. PMID 33461977), so a broader testing approach is recommended particularly in the perinatal period.", "status": "public", "version": "1.18", "version_created": "2025-11-21T16:59:26.431729+11:00", "relevant_disorders": [ "Congenital diaphragmatic hernia HP:0000776" ], "stats": { "number_of_genes": 49, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AMSH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16950", "gene_name": "STAM binding protein", "omim_gene": [ "606247" ], "alias_name": null, "gene_symbol": "STAMBP", "hgnc_symbol": "STAMBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74056086-74100786", "ensembl_id": "ENSG00000124356" } }, "GRch38": { "90": { "location": "2:73828916-73873659", "ensembl_id": "ENSG00000124356" } } }, "hgnc_date_symbol_changed": "2004-02-04" }, "entity_type": "gene", "entity_name": "STAMBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33528536", "23542699" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Microcephaly-capillary malformation syndrome MIM#614261" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [ "MADR2", "JV18-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6768", "gene_name": "SMAD family member 2", "omim_gene": [ "601366" ], "alias_name": null, "gene_symbol": "SMAD2", "hgnc_symbol": "SMAD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:45357922-45457515", "ensembl_id": "ENSG00000175387" } }, "GRch38": { "90": { "location": "18:47808957-47931146", "ensembl_id": "ENSG00000175387" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "SMAD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29967133", "30157302", "23665959" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Loeys-Dietz syndrome 6, MIM# 619656", "Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.535", "version_created": "2026-04-21T11:25:32.018166+10:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 254, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "LASP2", "LNEBL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16932", "gene_name": "nebulette", "omim_gene": [ "605491" ], "alias_name": [ "LIM and SH3 protein 2", "LIM-nebulette" ], "gene_symbol": "NEBL", "hgnc_symbol": "NEBL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:21068902-21463116", "ensembl_id": "ENSG00000078114" } }, "GRch38": { "90": { "location": "10:20779973-21174187", "ensembl_id": "ENSG00000078114" } } }, "hgnc_date_symbol_changed": "2004-05-27" }, "entity_type": "gene", "entity_name": "NEBL", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27186169" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Hypertrophic cardiomyopathy", "dilated cardiomyopathy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 95, "hash_id": null, "name": "Dilated Cardiomyopathy", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.", "status": "public", "version": "1.66", "version_created": "2026-04-02T19:34:23.537467+11:00", "relevant_disorders": [ "Dilated cardiomyopathy", "HP:0001644" ], "stats": { "number_of_genes": 69, "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": [ "ARVC2", "VTSIP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10484", "gene_name": "ryanodine receptor 2", "omim_gene": [ "180902" ], "alias_name": null, "gene_symbol": "RYR2", "hgnc_symbol": "RYR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:237205505-237997288", "ensembl_id": "ENSG00000198626" } }, "GRch38": { "90": { "location": "1:237042205-237833988", "ensembl_id": "ENSG00000198626" } } }, "hgnc_date_symbol_changed": "1989-12-07" }, "entity_type": "gene", "entity_name": "RYR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11159936", "25041964", "29543670", "11208676", "12093772" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772", "Arrhythmogenic right ventricular dysplasia 2, MIM# 600996", "Hypertrophic cardiomyopathy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "cardiac" ], "panel": { "id": 126, "hash_id": null, "name": "Incidentalome", "disease_group": "", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).", "status": "public", "version": "0.433", "version_created": "2026-03-25T17:03:27.624542+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 161, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RAB5CL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9785", "gene_name": "RAB5C, member RAS oncogene family", "omim_gene": [ "604037" ], "alias_name": [ "RAB, member of RAS oncogene family-like", "RAB5C, member of RAS oncogene family" ], "gene_symbol": "RAB5C", "hgnc_symbol": "RAB5C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40276994-40307035", "ensembl_id": "ENSG00000108774" } }, "GRch38": { "90": { "location": "17:42124976-42155044", "ensembl_id": "ENSG00000108774" } } }, "hgnc_date_symbol_changed": "1999-10-04" }, "entity_type": "gene", "entity_name": "RAB5C", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "PMID: 37552066" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, RAB5C-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "KIAA0346" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29012", "gene_name": "lysine demethylase 6B", "omim_gene": [ "611577" ], "alias_name": null, "gene_symbol": "KDM6B", "hgnc_symbol": "KDM6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7743222-7758114", "ensembl_id": "ENSG00000132510" } }, "GRch38": { "90": { "location": "17:7839904-7854796", "ensembl_id": "ENSG00000132510" } } }, "hgnc_date_symbol_changed": "2009-04-17" }, "entity_type": "gene", "entity_name": "KDM6B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37196654" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MIM#618505" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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": [] }, { "gene_data": { "alias": [ "HSPC019", "GL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21652", "gene_name": "osteopetrosis associated transmembrane protein 1", "omim_gene": [ "607649" ], "alias_name": [ "CLCN7 accessory beta subunit" ], "gene_symbol": "OSTM1", "hgnc_symbol": "OSTM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:108362613-108487058", "ensembl_id": "ENSG00000081087" } }, "GRch38": { "90": { "location": "6:108041409-108165854", "ensembl_id": "ENSG00000081087" } } }, "hgnc_date_symbol_changed": "2003-10-06" }, "entity_type": "gene", "entity_name": "OSTM1", "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": [ "ShrmL", "SHRM", "KIAA1481", "APXL3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30422", "gene_name": "shroom family member 3", "omim_gene": [ "604570" ], "alias_name": null, "gene_symbol": "SHROOM3", "hgnc_symbol": "SHROOM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:77356253-77704406", "ensembl_id": "ENSG00000138771" } }, "GRch38": { "90": { "location": "4:76435100-76783253", "ensembl_id": "ENSG00000138771" } } }, "hgnc_date_symbol_changed": "2006-07-20" }, "entity_type": "gene", "entity_name": "SHROOM3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39875538" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Craniofacial microsomia MONDO:0015397" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 136, "hash_id": null, "name": "Mandibulofacial Acrofacial dysostosis", "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 contains genes associated with the facial dysostoses, which can be subdivided into mandibulofacial dysostoses, which present with craniofacial defects only, and acrofacial dysostoses, which encompass both craniofacial and limb anomalies. Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.", "status": "public", "version": "1.22", "version_created": "2026-03-25T17:21:58.910310+11:00", "relevant_disorders": [ "Craniofacial dysostosis", "HP:0004439" ], "stats": { "number_of_genes": 35, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0926", "DKFZp586O1822", "CARD7", "NAC", "CLR17.1", "DEFCAP", "VAMAS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14374", "gene_name": "NLR family pyrin domain containing 1", "omim_gene": [ "606636" ], "alias_name": [ "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1" ], "gene_symbol": "NLRP1", "hgnc_symbol": "NLRP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:5402747-5522744", "ensembl_id": "ENSG00000091592" } }, "GRch38": { "90": { "location": "17:5499427-5619424", "ensembl_id": "ENSG00000091592" } } }, "hgnc_date_symbol_changed": "2006-12-08" }, "entity_type": "gene", "entity_name": "NLRP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27965258", "31484767", "27662089" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Autoinflammation with arthritis and dyskeratosis, MIM# 617388", "Palmoplantar carcinoma, multiple self-healing, MIM# 615225", "Recurrent respiratory papillomatosis" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:17728", "gene_name": "polyamine modulated factor 1 binding protein 1", "omim_gene": null, "alias_name": null, "gene_symbol": "PMFBP1", "hgnc_symbol": "PMFBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:72146056-72210777", "ensembl_id": "ENSG00000118557" } }, "GRch38": { "90": { "location": "16:72112157-72176878", "ensembl_id": "ENSG00000118557" } } }, "hgnc_date_symbol_changed": "2002-05-21" }, "entity_type": "gene", "entity_name": "PMFBP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33484382", "33452591", "32285443" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MDS1-EVI1", "PRDM3", "KMT8E" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3498", "gene_name": "MDS1 and EVI1 complex locus", "omim_gene": [ "165215" ], "alias_name": [ "PR domain 3" ], "gene_symbol": "MECOM", "hgnc_symbol": "MECOM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:168801287-169381406", "ensembl_id": "ENSG00000085276" } }, "GRch38": { "90": { "location": "3:169083499-169663618", "ensembl_id": "ENSG00000085276" } } }, "hgnc_date_symbol_changed": "2009-08-07" }, "entity_type": "gene", "entity_name": "MECOM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26581901" ], "evidence": [ "Expert Review Green", "Expert Review", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EIF-2Balpha", "EIF-2B", "EIF2BA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3257", "gene_name": "eukaryotic translation initiation factor 2B subunit alpha", "omim_gene": [ "606686" ], "alias_name": null, "gene_symbol": "EIF2B1", "hgnc_symbol": "EIF2B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:124104953-124118313", "ensembl_id": "ENSG00000111361" } }, "GRch38": { "90": { "location": "12:123620406-123633766", "ensembl_id": "ENSG00000111361" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "EIF2B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31882561", "11835386", "26285592", "15776425", "18263758", "25843247", "25761052", "30014503" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "leukoencephalopathy with vanishing white matter MONDO:0011380", "ataxia", "spasticity", "optic atrophy", "Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RNF55", "c-Cbl" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1541", "gene_name": "Cbl proto-oncogene", "omim_gene": [ "165360" ], "alias_name": [ "oncogene CBL2" ], "gene_symbol": "CBL", "hgnc_symbol": "CBL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:119076752-119178859", "ensembl_id": "ENSG00000110395" } }, "GRch38": { "90": { "location": "11:119206276-119313926", "ensembl_id": "ENSG00000110395" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "CBL", "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": [ "25358541", "20619386", "20543203", "20694012" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HARI", "HHARI", "UBCH7BP", "ARI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:689", "gene_name": "ariadne RBR E3 ubiquitin protein ligase 1", "omim_gene": [ "605624" ], "alias_name": [ "ariadne, Drosophila, homolog of" ], "gene_symbol": "ARIH1", "hgnc_symbol": "ARIH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:72766667-72879692", "ensembl_id": "ENSG00000166233" } }, "GRch38": { "90": { "location": "15:72474326-72602985", "ensembl_id": "ENSG00000166233" } } }, "hgnc_date_symbol_changed": "2000-08-24" }, "entity_type": "gene", "entity_name": "ARIH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29689197", "32102558" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Thoracic aortic aneurysm, MONDO:0005396, ARIH1-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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DLX8", "BP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2917", "gene_name": "distal-less homeobox 4", "omim_gene": [ "601911" ], "alias_name": null, "gene_symbol": "DLX4", "hgnc_symbol": "DLX4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48046334-48052321", "ensembl_id": "ENSG00000108813" } }, "GRch38": { "90": { "location": "17:49968970-49974959", "ensembl_id": "ENSG00000108813" } } }, "hgnc_date_symbol_changed": "1996-08-07" }, "entity_type": "gene", "entity_name": "DLX4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25954033", "29738288" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Orofacial cleft 15, MIM#\t616788" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:24415", "gene_name": "bolA family member 3", "omim_gene": [ "613183" ], "alias_name": null, "gene_symbol": "BOLA3", "hgnc_symbol": "BOLA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74362525-74375121", "ensembl_id": "ENSG00000163170" } }, "GRch38": { "90": { "location": "2:74135398-74147994", "ensembl_id": "ENSG00000163170" } } }, "hgnc_date_symbol_changed": "2005-05-09" }, "entity_type": "gene", "entity_name": "BOLA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30302924", "29654549", "30302924" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8849", "gene_name": "glutamyl-tRNA amidotransferase subunit B", "omim_gene": [ "603645" ], "alias_name": null, "gene_symbol": "GATB", "hgnc_symbol": "GATB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:152591656-152682175", "ensembl_id": "ENSG00000059691" } }, "GRch38": { "90": { "location": "4:151670504-151761023", "ensembl_id": "ENSG00000059691" } } }, "hgnc_date_symbol_changed": "2014-08-04" }, "entity_type": "gene", "entity_name": "GATB", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30283131", "38703036" ], "evidence": [ "Expert Review Amber", "NHS GMS" ], "phenotypes": [ "inborn mitochondrial metabolism disorder MONDO:0004069" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1260", "NLGN", "HLNX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14287", "gene_name": "neuroligin 4, X-linked", "omim_gene": [ "300427" ], "alias_name": null, "gene_symbol": "NLGN4X", "hgnc_symbol": "NLGN4X", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:5758678-6146904", "ensembl_id": "ENSG00000146938" } }, "GRch38": { "90": { "location": "X:5840637-6228863", "ensembl_id": "ENSG00000146938" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "NLGN4X", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12669065", "18231125", "10071191", "29428674", "26350204", "14963808", "16648374" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, X-linked, MIM# 300495" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PAP-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10288", "gene_name": "RP9, pre-mRNA splicing factor", "omim_gene": [ "607331" ], "alias_name": [ "Pim-1 kinase associated protein" ], "gene_symbol": "RP9", "hgnc_symbol": "RP9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:33134409-33149013", "ensembl_id": "ENSG00000164610" } }, "GRch38": { "90": { "location": "7:33094797-33109401", "ensembl_id": "ENSG00000164610" } } }, "hgnc_date_symbol_changed": "1994-04-27" }, "entity_type": "gene", "entity_name": "RP9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16799052", "16671097" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Retinitis pigmentosa 9 MIM#180104" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22054", "MGC40612", "PRO2435" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26164", "gene_name": "N(alpha)-acetyltransferase 16, NatA auxiliary subunit", "omim_gene": null, "alias_name": null, "gene_symbol": "NAA16", "hgnc_symbol": "NAA16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:41885341-41951166", "ensembl_id": "ENSG00000172766" } }, "GRch38": { "90": { "location": "13:41311205-41377030", "ensembl_id": "ENSG00000172766" } } }, "hgnc_date_symbol_changed": "2010-01-14" }, "entity_type": "gene", "entity_name": "NAA16", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41148812", "23665959", "28991257" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Congenital heart disease, MONDO:0005453, NAA16-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1307", "KIAA0462", "RBAF600" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30313", "gene_name": "ubiquitin protein ligase E3 component n-recognin 4", "omim_gene": [ "609890" ], "alias_name": null, "gene_symbol": "UBR4", "hgnc_symbol": "UBR4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:19401000-19536770", "ensembl_id": "ENSG00000127481" } }, "GRch38": { "90": { "location": "1:19074506-19210276", "ensembl_id": "ENSG00000127481" } } }, "hgnc_date_symbol_changed": "2007-06-19" }, "entity_type": "gene", "entity_name": "UBR4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29062094", "23982692", "28600779" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Episodic ataxia", "progressive neurological deterioration" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HCAK1" ], "biotype": "IG_C_gene", "hgnc_id": "HGNC:5716", "gene_name": "immunoglobulin kappa constant", "omim_gene": [ "147200" ], "alias_name": null, "gene_symbol": "IGKC", "hgnc_symbol": "IGKC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:89156674-89157196", "ensembl_id": "ENSG00000211592" } }, "GRch38": { "90": { "location": "2:88857161-88857683", "ensembl_id": "ENSG00000211592" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "IGKC", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "https://search.clinicalgenome.org/CCID:005121" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "technically challenging" ], "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": "1.4757", "version_created": "2026-04-22T15:49:09.648412+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12616", "gene_name": "ubiquitin specific peptidase 18", "omim_gene": [ "607057" ], "alias_name": null, "gene_symbol": "USP18", "hgnc_symbol": "USP18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:18632666-18660164", "ensembl_id": "ENSG00000184979" } }, "GRch38": { "90": { "location": "22:18149899-18177397", "ensembl_id": "ENSG00000184979" } } }, "hgnc_date_symbol_changed": "1999-11-16" }, "entity_type": "gene", "entity_name": "USP18", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27325888", "31940699" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pseudo-TORCH syndrome 2 MIM#617397" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ30508", "MGC23909" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28330", "gene_name": "transmembrane protein 167A", "omim_gene": null, "alias_name": null, "gene_symbol": "TMEM167A", "hgnc_symbol": "TMEM167A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:82348665-82373682", "ensembl_id": "ENSG00000174695" } }, "GRch38": { "90": { "location": "5:83052846-83077863", "ensembl_id": "ENSG00000174695" } } }, "hgnc_date_symbol_changed": "2008-06-06" }, "entity_type": "gene", "entity_name": "TMEM167A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40924476" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Hup1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8621", "gene_name": "paired box 7", "omim_gene": [ "167410" ], "alias_name": null, "gene_symbol": "PAX7", "hgnc_symbol": "PAX7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:18957500-19075360", "ensembl_id": "ENSG00000009709" } }, "GRch38": { "90": { "location": "1:18631006-18748866", "ensembl_id": "ENSG00000009709" } } }, "hgnc_date_symbol_changed": "1992-11-20" }, "entity_type": "gene", "entity_name": "PAX7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31092906" ], "evidence": [ "Expert Review Green", "Other", "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Congenital myopathy 19 (MIM#618578)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": null }, { "gene_data": { "alias": [ "HSPC019", "GL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21652", "gene_name": "osteopetrosis associated transmembrane protein 1", "omim_gene": [ "607649" ], "alias_name": [ "CLCN7 accessory beta subunit" ], "gene_symbol": "OSTM1", "hgnc_symbol": "OSTM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:108362613-108487058", "ensembl_id": "ENSG00000081087" } }, "GRch38": { "90": { "location": "6:108041409-108165854", "ensembl_id": "ENSG00000081087" } } }, "hgnc_date_symbol_changed": "2003-10-06" }, "entity_type": "gene", "entity_name": "OSTM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12627228", "15108279", "16813530", "23772242", "32048120" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Osteopetrosis, autosomal recessive 5 MIM#259720" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 150, "hash_id": null, "name": "Osteopetrosis", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.", "status": "public", "version": "1.0", "version_created": "2025-12-22T12:45:57.007049+11:00", "relevant_disorders": [ "Increased bone mineral density", "HP:0011001" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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:4422", "gene_name": "glucosamine (N-acetyl)-6-sulfatase", "omim_gene": [ "607664" ], "alias_name": [ "Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase" ], "gene_symbol": "GNS", "hgnc_symbol": "GNS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:65107225-65153227", "ensembl_id": "ENSG00000135677" } }, "GRch38": { "90": { "location": "12:64713445-64759447", "ensembl_id": "ENSG00000135677" } } }, "hgnc_date_symbol_changed": "1988-06-09" }, "entity_type": "gene", "entity_name": "GNS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12573255", "12624138", "31536183", "25851924" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mucopolysaccharidosis type IIID, MIM# 252940", "Sanfilippo syndrome type D, MONDO:0009658" ], "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": [ "dj747L4.1", "TPIT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11596", "gene_name": "T-box 19", "omim_gene": [ "604614" ], "alias_name": [ "TBS 19" ], "gene_symbol": "TBX19", "hgnc_symbol": "TBX19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:168250278-168283664", "ensembl_id": "ENSG00000143178" } }, "GRch38": { "90": { "location": "1:168281040-168314426", "ensembl_id": "ENSG00000143178" } } }, "hgnc_date_symbol_changed": "1999-02-01" }, "entity_type": "gene", "entity_name": "TBX19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31998673" ], "evidence": [ "Expert Review Green", "Literature", "Expert list" ], "phenotypes": [ "Adrenocorticotropic hormone deficiency - 201400" ], "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": "1.409", "version_created": "2026-04-18T18:50:54.267331+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3091", "gene_name": "dual specificity tyrosine phosphorylation regulated kinase 1A", "omim_gene": [ "600855" ], "alias_name": null, "gene_symbol": "DYRK1A", "hgnc_symbol": "DYRK1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:38738092-38889753", "ensembl_id": "ENSG00000157540" } }, "GRch38": { "90": { "location": "21:37365790-37517450", "ensembl_id": "ENSG00000157540" } } }, "hgnc_date_symbol_changed": "1999-01-29" }, "entity_type": "gene", "entity_name": "DYRK1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25707398", "21294719", "23160955", "23099646", "33159716" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mental retardation, autosomal dominant 7, MIM# 614104", "MONDO:0013578" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "SV/CNV" ], "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": "1.409", "version_created": "2026-04-18T18:50:54.267331+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DHPR", "PKU2", "SDR33C1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9752", "gene_name": "quinoid dihydropteridine reductase", "omim_gene": [ "612676" ], "alias_name": [ "6,7-dihydropteridine reductase", "short chain dehydrogenase/reductase family 33C, member 1" ], "gene_symbol": "QDPR", "hgnc_symbol": "QDPR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:17461884-17513857", "ensembl_id": "ENSG00000151552" } }, "GRch38": { "90": { "location": "4:17460261-17512234", "ensembl_id": "ENSG00000151552" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "QDPR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26006720" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Hyperphenylalaninemia, BH4-deficient, C, MIM#261630" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.409", "version_created": "2026-04-18T18:50:54.267331+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCO1L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10604", "gene_name": "SCO2, cytochrome c oxidase assembly protein", "omim_gene": [ "604272" ], "alias_name": null, "gene_symbol": "SCO2", "hgnc_symbol": "SCO2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50961997-50964868", "ensembl_id": "ENSG00000130489" } }, "GRch38": { "90": { "location": "22:50523568-50525606", "ensembl_id": "ENSG00000130489" } } }, "hgnc_date_symbol_changed": "1999-10-12" }, "entity_type": "gene", "entity_name": "SCO2", "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": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8653", "gene_name": "propionyl-CoA carboxylase alpha subunit", "omim_gene": [ "232000" ], "alias_name": null, "gene_symbol": "PCCA", "hgnc_symbol": "PCCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:100741269-101182686", "ensembl_id": "ENSG00000175198" } }, "GRch38": { "90": { "location": "13:100089015-100530437", "ensembl_id": "ENSG00000175198" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PCCA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [ "treatable" ], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TRNS1" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7497", "gene_name": "mitochondrially encoded tRNA serine 1 (UCN)", "omim_gene": [ "590080" ], "alias_name": null, "gene_symbol": "MT-TS1", "hgnc_symbol": "MT-TS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:7446-7514", "ensembl_id": "ENSG00000210151" } }, "GRch38": { "90": { "location": "MT:7446-7514", "ensembl_id": "ENSG00000210151" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "7669057", "9778262", "14605505", "23696415", "33279600", "7581383" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TS1-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8632", "gene_name": "PBX homeobox 1", "omim_gene": [ "176310" ], "alias_name": null, "gene_symbol": "PBX1", "hgnc_symbol": "PBX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:164524821-164868533", "ensembl_id": "ENSG00000185630" } }, "GRch38": { "90": { "location": "1:164555584-164899296", "ensembl_id": "ENSG00000185630" } } }, "hgnc_date_symbol_changed": "1990-09-10" }, "entity_type": "gene", "entity_name": "PBX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29036646" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Deafness Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "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": null }, { "gene_data": { "alias": [ "Kv7.1", "KCNA8", "KVLQT1", "JLNS1", "LQT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6294", "gene_name": "potassium voltage-gated channel subfamily Q member 1", "omim_gene": [ "607542" ], "alias_name": [ "Jervell and Lange-Nielsen syndrome 1" ], "gene_symbol": "KCNQ1", "hgnc_symbol": "KCNQ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:2465914-2870339", "ensembl_id": "ENSG00000053918" } }, "GRch38": { "90": { "location": "11:2444684-2849109", "ensembl_id": "ENSG00000053918" } } }, "hgnc_date_symbol_changed": "1997-02-05" }, "entity_type": "gene", "entity_name": "KCNQ1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance" ], "phenotypes": [ "Long QT syndrome 1, MIM# 192500" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 221, "hash_id": null, "name": "Additional findings_Adult", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.", "status": "public", "version": "2.0", "version_created": "2026-03-16T10:56:03.168206+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 136, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7329", "gene_name": "mutS homolog 6", "omim_gene": [ "600678" ], "alias_name": null, "gene_symbol": "MSH6", "hgnc_symbol": "MSH6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47922669-48037240", "ensembl_id": "ENSG00000116062" } }, "GRch38": { "90": { "location": "2:47695530-47810101", "ensembl_id": "ENSG00000116062" } } }, "hgnc_date_symbol_changed": "1995-08-29" }, "entity_type": "gene", "entity_name": "MSH6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22250089", "32048120", "30013564" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Mismatch repair cancer syndrome 3 MIM#619097", "constitutional mismatch repair deficiency", "immunodeficiency" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 222, "hash_id": null, "name": "Predominantly Antibody Deficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.4", "version_created": "2025-09-11T18:11:50.640122+10:00", "relevant_disorders": [ "Decreased immunoglobulin level", "HP:0041078" ], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GP91-PHOX", "NOX2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2578", "gene_name": "cytochrome b-245 beta chain", "omim_gene": [ "300481" ], "alias_name": [ "NADPH oxidase 2" ], "gene_symbol": "CYBB", "hgnc_symbol": "CYBB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:37639264-37672714", "ensembl_id": "ENSG00000165168" } }, "GRch38": { "90": { "location": "X:37780011-37813461", "ensembl_id": "ENSG00000165168" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CYBB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "2556453", "1710153", "9585602" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Chronic granulomatous disease, X-linked, MIM# 306400" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 231, "hash_id": null, "name": "Defects of intrinsic and innate immunity", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.39", "version_created": "2026-04-15T16:26:05.053680+10:00", "relevant_disorders": [ "Unusual infections", "HP:0032101" ], "stats": { "number_of_genes": 86, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:186", "gene_name": "adenosine deaminase", "omim_gene": [ "608958" ], "alias_name": null, "gene_symbol": "ADA", "hgnc_symbol": "ADA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:43248163-43280874", "ensembl_id": "ENSG00000196839" } }, "GRch38": { "90": { "location": "20:44619522-44652233", "ensembl_id": "ENSG00000196839" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ADA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "3007108", "3475710", "8178821", "8227344", "2783588" ], "evidence": [ "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Immunology Flagship", "Expert Review Green", "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Severe combined immunodeficiency due to ADA deficiency, MIM# 102700", "MONDO:0007064" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 235, "hash_id": null, "name": "Severe Combined Immunodeficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:\r\n- SCID with absent T present B cells\r\n- SCID with absent T absent B cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.30", "version_created": "2026-03-02T10:27:29.970169+11:00", "relevant_disorders": [ "Severe combined immunodeficiency", "HP:0004430" ], "stats": { "number_of_genes": 28, "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": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RAD51L2", "FANCO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9820", "gene_name": "RAD51 paralog C", "omim_gene": [ "602774" ], "alias_name": null, "gene_symbol": "RAD51C", "hgnc_symbol": "RAD51C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:56769934-56811703", "ensembl_id": "ENSG00000108384" } }, "GRch38": { "90": { "location": "17:58692573-58735611", "ensembl_id": "ENSG00000108384" } } }, "hgnc_date_symbol_changed": "1998-02-26" }, "entity_type": "gene", "entity_name": "RAD51C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PMID: 28288110" ], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [ "umccr" ], "panel": { "id": 242, "hash_id": null, "name": "Homologous_recombination_deficiency_WTS_UMCCR", "disease_group": "Cancer", "disease_sub_group": "", "description": "Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of genes involved in homologous recombination DNA damage repair (HR-DDR) deficiency in various cancer types. This set of genes is used in UMCCR WTS report \"HRD genes\" section\r\n\r\nSource: -\r\n\r\nGithub: https://github.com/umccr/RNAsum", "status": "public", "version": "0.45", "version_created": "2025-11-03T15:31:09.278966+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 36, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PD-L2", "Btdc", "PDL2", "bA574F11.2", "CD273", "B7-DC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18731", "gene_name": "programmed cell death 1 ligand 2", "omim_gene": [ "605723" ], "alias_name": [ "B7 dendritic cell molecule" ], "gene_symbol": "PDCD1LG2", "hgnc_symbol": "PDCD1LG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:5510545-5571282", "ensembl_id": "ENSG00000197646" } }, "GRch38": { "90": { "location": "9:5510570-5571254", "ensembl_id": "ENSG00000197646" } } }, "hgnc_date_symbol_changed": "2003-11-14" }, "entity_type": "gene", "entity_name": "PDCD1LG2", "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": [ "MGC16925", "DKFZp434D229" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16491", "gene_name": "p53-induced death domain protein 1", "omim_gene": [ "605247" ], "alias_name": null, "gene_symbol": "PIDD1", "hgnc_symbol": "PIDD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:799179-809753", "ensembl_id": "ENSG00000177595" } }, "GRch38": { "90": { "location": "11:799179-809753", "ensembl_id": "ENSG00000177595" } } }, "hgnc_date_symbol_changed": "2014-05-01" }, "entity_type": "gene", "entity_name": "PIDD1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "28397838", "29302074", "33414379", "34163010" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 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": "1.753", "version_created": "2026-04-20T16:26:20.852704+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav1.3", "CACH3", "CACN4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1391", "gene_name": "calcium voltage-gated channel subunit alpha1 D", "omim_gene": [ "114206" ], "alias_name": null, "gene_symbol": "CACNA1D", "hgnc_symbol": "CACNA1D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:53528683-53847760", "ensembl_id": "ENSG00000157388" } }, "GRch38": { "90": { "location": "3:53328963-53813733", "ensembl_id": "ENSG00000157388" } } }, "hgnc_date_symbol_changed": "1991-12-12" }, "entity_type": "gene", "entity_name": "CACNA1D", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31921405", "28472301", "25620733" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474", "intellectual disability", "autism", "epilepsy" ], "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": "1.753", "version_created": "2026-04-20T16:26:20.852704+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20043", "gene_name": "gem nuclear organelle associated protein 5", "omim_gene": [ "607005" ], "alias_name": null, "gene_symbol": "GEMIN5", "hgnc_symbol": "GEMIN5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:154266976-154317769", "ensembl_id": "ENSG00000082516" } }, "GRch38": { "90": { "location": "5:154887416-154938209", "ensembl_id": "ENSG00000082516" } } }, "hgnc_date_symbol_changed": "2002-12-16" }, "entity_type": "gene", "entity_name": "GEMIN5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34569062", "33963192" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6481", "gene_name": "laminin subunit alpha 1", "omim_gene": [ "150320" ], "alias_name": null, "gene_symbol": "LAMA1", "hgnc_symbol": "LAMA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:6941743-7117813", "ensembl_id": "ENSG00000101680" } }, "GRch38": { "90": { "location": "18:6941744-7117814", "ensembl_id": "ENSG00000101680" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "LAMA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26932191", "25105227" ], "evidence": [ "Expert Review Green", "Expert list", "Royal Melbourne Hospital", "GeneReviews" ], "phenotypes": [ "Poretti-Boltshauser syndrome", "Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "trnG" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7486", "gene_name": "mitochondrially encoded tRNA glycine", "omim_gene": [ "590035" ], "alias_name": null, "gene_symbol": "MT-TG", "hgnc_symbol": "MT-TG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:9991-10058", "ensembl_id": "ENSG00000210164" } }, "GRch38": { "90": { "location": "MT:9991-10058", "ensembl_id": "ENSG00000210164" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8079988", "9199564", "11971101", "16120360", "32337339", "35432167", "10090480" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TG-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.245", "version_created": "2026-03-28T13:33:23.781842+11:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NET32", "Erlin-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1356", "gene_name": "ER lipid raft associated 2", "omim_gene": [ "611605" ], "alias_name": null, "gene_symbol": "ERLIN2", "hgnc_symbol": "ERLIN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:37594117-37616619", "ensembl_id": "ENSG00000147475" } }, "GRch38": { "90": { "location": "8:37736599-37759101", "ensembl_id": "ENSG00000147475" } } }, "hgnc_date_symbol_changed": "2007-01-26" }, "entity_type": "gene", "entity_name": "ERLIN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23109145", "21330303", "32094424", "29528531" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spastic paraplegia 18, autosomal recessive, MIM# 611225", "Spastic paraplegia 18A, autosomal dominant, MIM# 620512" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:613", "gene_name": "apolipoprotein E", "omim_gene": [ "107741" ], "alias_name": null, "gene_symbol": "APOE", "hgnc_symbol": "APOE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:45409011-45412650", "ensembl_id": "ENSG00000130203" } }, "GRch38": { "90": { "location": "19:44905754-44909393", "ensembl_id": "ENSG00000130203" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "APOE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 332, "hash_id": null, "name": "Dyslipidaemia", "disease_group": "Endocrine disorders; Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes that cause dyslipidaemia, abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids). It contains all the genes that cause hyperlipidaemias. It was developed for use by the Royal Melbourne Hospital endocrine genetics clinic.", "status": "public", "version": "0.51", "version_created": "2026-04-03T15:42:30.681985+11:00", "relevant_disorders": [ "Abnormal circulating lipid concentration", "HP:0003119" ], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "beta-4", "CFEOM3", "CFEOM3A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20772", "gene_name": "tubulin beta 3 class III", "omim_gene": [ "602661" ], "alias_name": [ "class III beta-tubulin" ], "gene_symbol": "TUBB3", "hgnc_symbol": "TUBB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:89987800-90005169", "ensembl_id": "ENSG00000258947" } }, "GRch38": { "90": { "location": "16:89921392-89938761", "ensembl_id": "ENSG00000258947" } } }, "hgnc_date_symbol_changed": "2004-11-22" }, "entity_type": "gene", "entity_name": "TUBB3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20074521", "34652576" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Fibrosis of extraocular muscles, congenital, 3A (MIM#600638)", "Neuropathy" ], "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": [ "PEPCK", "PEPCK2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8725", "gene_name": "phosphoenolpyruvate carboxykinase 2, mitochondrial", "omim_gene": [ "614095" ], "alias_name": null, "gene_symbol": "PCK2", "hgnc_symbol": "PCK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:24563262-24579807", "ensembl_id": "ENSG00000100889" } }, "GRch38": { "90": { "location": "14:24094053-24110598", "ensembl_id": "ENSG00000100889" } } }, "hgnc_date_symbol_changed": "1993-03-04" }, "entity_type": "gene", "entity_name": "PCK2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36845668" ], "evidence": [ "Literature", "Expert Review Amber", "Expert Review Amber", "Literature" ], "phenotypes": [ "Peripheral neuropathy (MONDO#0005244), PCK2-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11448", "gene_name": "succinate-CoA ligase ADP-forming beta subunit", "omim_gene": [ "603921" ], "alias_name": [ "succinate--CoA ligase (ADP-forming)" ], "gene_symbol": "SUCLA2", "hgnc_symbol": "SUCLA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:48510622-48612125", "ensembl_id": "ENSG00000136143" } }, "GRch38": { "90": { "location": "13:47936491-48001354", "ensembl_id": "ENSG00000136143" } } }, "hgnc_date_symbol_changed": "1998-11-11" }, "entity_type": "gene", "entity_name": "SUCLA2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301762", "35235001" ], "evidence": [ "Expert Review Amber", "Royal Melbourne Hospital" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791", "MIM#612073)", "‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "trnG" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7486", "gene_name": "mitochondrially encoded tRNA glycine", "omim_gene": [ "590035" ], "alias_name": null, "gene_symbol": "MT-TG", "hgnc_symbol": "MT-TG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:9991-10058", "ensembl_id": "ENSG00000210164" } }, "GRch38": { "90": { "location": "MT:9991-10058", "ensembl_id": "ENSG00000210164" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8079988", "9199564", "11971101", "16120360", "32337339", "35432167", "10090480" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TG-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 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": [] }, { "gene_data": { "alias": [ "CDHR23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13733", "gene_name": "cadherin related 23", "omim_gene": [ "605516" ], "alias_name": [ "cadherin-related family member 23" ], "gene_symbol": "CDH23", "hgnc_symbol": "CDH23", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73156691-73575702", "ensembl_id": "ENSG00000107736" } }, "GRch38": { "90": { "location": "10:71396934-71815947", "ensembl_id": "ENSG00000107736" } } }, "hgnc_date_symbol_changed": "2000-10-19" }, "entity_type": "gene", "entity_name": "CDH23", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Usher syndrome, type 1D, 601067 (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": [ "Kir6.2", "BIR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6257", "gene_name": "potassium voltage-gated channel subfamily J member 11", "omim_gene": [ "600937" ], "alias_name": null, "gene_symbol": "KCNJ11", "hgnc_symbol": "KCNJ11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:17407406-17410878", "ensembl_id": "ENSG00000187486" } }, "GRch38": { "90": { "location": "11:17385859-17389331", "ensembl_id": "ENSG00000187486" } } }, "hgnc_date_symbol_changed": "1997-09-12" }, "entity_type": "gene", "entity_name": "KCNJ11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hyperinsulinemic hypoglycemia, familial, 2, 601820 (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": [ "HHT2", "ALK1", "HHT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:175", "gene_name": "activin A receptor like type 1", "omim_gene": [ "601284" ], "alias_name": null, "gene_symbol": "ACVRL1", "hgnc_symbol": "ACVRL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52300692-52317145", "ensembl_id": "ENSG00000139567" } }, "GRch38": { "90": { "location": "12:51906908-51923361", "ensembl_id": "ENSG00000139567" } } }, "hgnc_date_symbol_changed": "1994-12-12" }, "entity_type": "gene", "entity_name": "ACVRL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376" ], "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": null }, { "gene_data": { "alias": [ "RecQ4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9949", "gene_name": "RecQ like helicase 4", "omim_gene": [ "603780" ], "alias_name": null, "gene_symbol": "RECQL4", "hgnc_symbol": "RECQL4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145736667-145743229", "ensembl_id": "ENSG00000160957" } }, "GRch38": { "90": { "location": "8:144511288-144517845", "ensembl_id": "ENSG00000160957" } } }, "hgnc_date_symbol_changed": "2014-03-07" }, "entity_type": "gene", "entity_name": "RECQL4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301415, 10319867, 3138154" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Rothmund-Thomson syndrome, MONDO:0010002" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.414", "version_created": "2026-04-13T17:24:24.650771+10:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 164, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11572", "gene_name": "threonyl-tRNA synthetase", "omim_gene": [ "187790" ], "alias_name": [ "threonine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "TARS", "hgnc_symbol": "TARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:33440802-33469644", "ensembl_id": "ENSG00000113407" } }, "GRch38": { "90": { "location": "5:33440696-33469539", "ensembl_id": "ENSG00000113407" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TARS", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31332722", "31374204" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Trichothiodystrophy 7, nonphotosensitive, 618546" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3269, "hash_id": null, "name": "Hair disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.84", "version_created": "2026-03-30T12:08:41.487037+11:00", "relevant_disorders": [ "Abnormal hair morphology", "HP:0001595" ], "stats": { "number_of_genes": 60, "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": [ "DKFZp313L0718" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4620", "gene_name": "gelsolin", "omim_gene": [ "137350" ], "alias_name": [ "amyloidosis, Finnish type" ], "gene_symbol": "GSN", "hgnc_symbol": "GSN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:123970072-124095121", "ensembl_id": "ENSG00000148180" } }, "GRch38": { "90": { "location": "9:121207794-121332843", "ensembl_id": "ENSG00000148180" } } }, "hgnc_date_symbol_changed": "1988-07-19" }, "entity_type": "gene", "entity_name": "GSN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26339870" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Amyloidosis, Finnish type, MIM#\t105120" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [] }, { "gene_data": { "alias": [ "RTA1A", "CD233", "FR", "SW", "WR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11027", "gene_name": "solute carrier family 4 member 1 (Diego blood group)", "omim_gene": [ "109270" ], "alias_name": [ "Froese blood group", "Swann blood group", "Wright blood group" ], "gene_symbol": "SLC4A1", "hgnc_symbol": "SLC4A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42325753-42345509", "ensembl_id": "ENSG00000004939" } }, "GRch38": { "90": { "location": "17:44248385-44268141", "ensembl_id": "ENSG00000004939" } } }, "hgnc_date_symbol_changed": "1988-04-20" }, "entity_type": "gene", "entity_name": "SLC4A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Spherocytosis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:18971", "gene_name": "adaptor related protein complex 1 sigma 3 subunit", "omim_gene": [ "615781" ], "alias_name": null, "gene_symbol": "AP1S3", "hgnc_symbol": "AP1S3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:224616403-224702744", "ensembl_id": "ENSG00000152056" } }, "GRch38": { "90": { "location": "2:223751686-223838027", "ensembl_id": "ENSG00000152056" } } }, "hgnc_date_symbol_changed": "2002-12-17" }, "entity_type": "gene", "entity_name": "AP1S3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Pustular psoriasis" ], "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": [ "LFB3", "VHNF1", "HNF1beta", "MODY5" ], "biotype": null, "hgnc_id": "HGNC:11630", "gene_name": "HNF1 homeobox B", "omim_gene": [ "189907" ], "alias_name": null, "gene_symbol": "HNF1B", "hgnc_symbol": "HNF1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:36046435-36105237", "ensembl_id": "ENSG00000108753" } }, "GRch38": { "90": { "location": "17:37686432-37745247", "ensembl_id": "ENSG00000275410" } } }, "hgnc_date_symbol_changed": "2007-08-24" }, "entity_type": "gene", "entity_name": "HNF1B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Renal cysts and diabetes 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": [ "HSAN2", "PPP1R167" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14540", "gene_name": "WNK lysine deficient protein kinase 1", "omim_gene": [ "605232" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 167" ], "gene_symbol": "WNK1", "hgnc_symbol": "WNK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:861759-1020618", "ensembl_id": "ENSG00000060237" } }, "GRch38": { "90": { "location": "12:752593-911452", "ensembl_id": "ENSG00000060237" } } }, "hgnc_date_symbol_changed": "2005-01-21" }, "entity_type": "gene", "entity_name": "WNK1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Neuropathy, hereditary sensory and autonomic, type I" ], "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": [ "F5F8D", "LMAN1IP", "SDNSF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18451", "gene_name": "multiple coagulation factor deficiency 2", "omim_gene": [ "607788" ], "alias_name": null, "gene_symbol": "MCFD2", "hgnc_symbol": "MCFD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47129009-47168994", "ensembl_id": "ENSG00000180398" } }, "GRch38": { "90": { "location": "2:46901870-46941855", "ensembl_id": "ENSG00000180398" } } }, "hgnc_date_symbol_changed": "2003-06-24" }, "entity_type": "gene", "entity_name": "MCFD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Factor V and Factor VIII deficiency, combined" ], "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": [ "NY-REN-55", "KIAA1901" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7744", "gene_name": "NIMA related kinase 1", "omim_gene": [ "604588" ], "alias_name": null, "gene_symbol": "NEK1", "hgnc_symbol": "NEK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:170314426-170533780", "ensembl_id": "ENSG00000137601" } }, "GRch38": { "90": { "location": "4:169392857-169612629", "ensembl_id": "ENSG00000137601" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "NEK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21211617", "22499340", "25492405", "28123176", "27530628" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520", "Orofaciodigital syndrome II , MIM# 252100" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:103", "gene_name": "cyclin and CBS domain divalent metal cation transport mediator 2", "omim_gene": [ "607803" ], "alias_name": null, "gene_symbol": "CNNM2", "hgnc_symbol": "CNNM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:104678050-104849978", "ensembl_id": "ENSG00000148842" } }, "GRch38": { "90": { "location": "10:102918293-103090221", "ensembl_id": "ENSG00000148842" } } }, "hgnc_date_symbol_changed": "1999-12-07" }, "entity_type": "gene", "entity_name": "CNNM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34604137, 35170241" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "renal hypomagnesemia 6 MONDO:0013480", "Disorders of magnesium metabolism" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3469, "hash_id": null, "name": "Metal Metabolism Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism. \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.", "status": "public", "version": "0.54", "version_created": "2026-02-17T14:35:14.331246+11:00", "relevant_disorders": [ "Abnormality of iron homeostasis", "HP:0011031;Abnormal blood transition element cation concentration", "HP:0011030" ], "stats": { "number_of_genes": 51, "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": [ "Caspr2", "KIAA0868", "NRXN4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13830", "gene_name": "contactin associated protein like 2", "omim_gene": [ "604569" ], "alias_name": null, "gene_symbol": "CNTNAP2", "hgnc_symbol": "CNTNAP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:145813453-148118090", "ensembl_id": "ENSG00000174469" } }, "GRch38": { "90": { "location": "7:146116002-148420998", "ensembl_id": "ENSG00000174469" } } }, "hgnc_date_symbol_changed": "2001-06-01" }, "entity_type": "gene", "entity_name": "CNTNAP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16571880", "19896112", "27439707" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Cortical dysplasia-focal epilepsy syndrome, MIM# 610042" ], "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": "1.559", "version_created": "2026-04-21T11:27:49.150143+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LUCA1", "HYAL-1", "FUS2", "NAT6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5320", "gene_name": "hyaluronoglucosaminidase 1", "omim_gene": [ "607071" ], "alias_name": null, "gene_symbol": "HYAL1", "hgnc_symbol": "HYAL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:50337320-50349812", "ensembl_id": "ENSG00000114378" } }, "GRch38": { "90": { "location": "3:50299889-50312381", "ensembl_id": "ENSG00000114378" } } }, "hgnc_date_symbol_changed": "1997-10-09" }, "entity_type": "gene", "entity_name": "HYAL1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10339581", "18344557", "21559944" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Mucopolysaccharidosis type IX, MIM# 601492", "MONDO:0011093" ], "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": "1.559", "version_created": "2026-04-21T11:27:49.150143+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ11752", "NTKL-BP1", "GO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25676", "gene_name": "golgin, RAB6 interacting", "omim_gene": [ "607983" ], "alias_name": [ "gerodermia osteodysplastica", "RAB6-interacting golgin" ], "gene_symbol": "GORAB", "hgnc_symbol": "GORAB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:170501270-170522587", "ensembl_id": "ENSG00000120370" } }, "GRch38": { "90": { "location": "1:170532129-170553446", "ensembl_id": "ENSG00000120370" } } }, "hgnc_date_symbol_changed": "2009-02-13" }, "entity_type": "gene", "entity_name": "GORAB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18348262", "28807865", "30631079" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Literature", "Genetic Health Queensland" ], "phenotypes": [ "Geroderma osteodysplasticum MIM#231070" ], "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": "1.559", "version_created": "2026-04-21T11:27:49.150143+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0309", "EAF1", "SWR1", "DOMO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16974", "gene_name": "Snf2 related CREBBP activator protein", "omim_gene": [ "611421" ], "alias_name": [ "Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)" ], "gene_symbol": "SRCAP", "hgnc_symbol": "SRCAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:30709530-30755602", "ensembl_id": "ENSG00000080603" } }, "GRch38": { "90": { "location": "16:30698209-30741409", "ensembl_id": "ENSG00000080603" } } }, "hgnc_date_symbol_changed": "2007-11-29" }, "entity_type": "gene", "entity_name": "SRCAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33909990" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Floating-Harbor syndrome, MIM# 136140" ], "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": "1.559", "version_created": "2026-04-21T11:27:49.150143+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "K35" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1779", "gene_name": "cyclin dependent kinase 8", "omim_gene": [ "603184" ], "alias_name": null, "gene_symbol": "CDK8", "hgnc_symbol": "CDK8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:26828276-26979375", "ensembl_id": "ENSG00000132964" } }, "GRch38": { "90": { "location": "13:26254104-26405238", "ensembl_id": "ENSG00000132964" } } }, "hgnc_date_symbol_changed": "1998-04-29" }, "entity_type": "gene", "entity_name": "CDK8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30905399" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual disability", "dysmorphism", "congenital abnormalities", "seizures" ], "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": "1.559", "version_created": "2026-04-21T11:27:49.150143+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DAX1", "AHCH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7960", "gene_name": "nuclear receptor subfamily 0 group B member 1", "omim_gene": [ "300473" ], "alias_name": null, "gene_symbol": "NR0B1", "hgnc_symbol": "NR0B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:30322323-30327715", "ensembl_id": "ENSG00000169297" } }, "GRch38": { "90": { "location": "X:30304206-30309598", "ensembl_id": "ENSG00000169297" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "NR0B1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7951319", "23384712" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "46XY sex reversal 2, dosage-sensitive MIM#300018" ], "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": [ "SV/CNV" ], "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": "1.559", "version_created": "2026-04-21T11:27:49.150143+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp564B176", "SRrp86", "SRrp508" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17882", "gene_name": "splicing regulatory glutamic acid and lysine rich protein 1", "omim_gene": [ "609268" ], "alias_name": [ "serine-arginine-rich splicing regulatory protein 508" ], "gene_symbol": "SREK1", "hgnc_symbol": "SREK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:65435799-65479443", "ensembl_id": "ENSG00000153914" } }, "GRch38": { "90": { "location": "5:66139971-66183615", "ensembl_id": "ENSG00000153914" } } }, "hgnc_date_symbol_changed": "2010-09-08" }, "entity_type": "gene", "entity_name": "SREK1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40549565" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Prader-Willi-like syndrome, SREK1-related MONDO:0008300" ], "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": "1.32", "version_created": "2026-04-20T20:39:13.285624+10:00", "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": [ "FLJ30600", "CORD16", "RP64", "BBS21" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27232", "gene_name": "chromosome 8 open reading frame 37", "omim_gene": [ "614477" ], "alias_name": null, "gene_symbol": "C8orf37", "hgnc_symbol": "C8orf37", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:96257147-96281429", "ensembl_id": "ENSG00000156172" } }, "GRch38": { "90": { "location": "8:95244919-95269201", "ensembl_id": "ENSG00000156172" } } }, "hgnc_date_symbol_changed": "2005-07-27" }, "entity_type": "gene", "entity_name": "C8orf37", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27008867", "26854863" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Bardet-Biedl syndrome 21, MIM#617406" ], "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": "1.32", "version_created": "2026-04-20T20:39:13.285624+10:00", "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": [ "B1", "PTHB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30000", "gene_name": "Bardet-Biedl syndrome 9", "omim_gene": [ "607968" ], "alias_name": [ "parathyroid hormone responsive B1 gene" ], "gene_symbol": "BBS9", "hgnc_symbol": "BBS9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:33168856-33645680", "ensembl_id": "ENSG00000122507" } }, "GRch38": { "90": { "location": "7:33129244-33606068", "ensembl_id": "ENSG00000122507" } } }, "hgnc_date_symbol_changed": "2007-01-18" }, "entity_type": "gene", "entity_name": "BBS9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16380913", "22353939", "32686083", "32037757" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 9, MIM#615986" ], "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": "1.32", "version_created": "2026-04-20T20:39:13.285624+10:00", "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": [ "CD110", "TPOR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7217", "gene_name": "MPL proto-oncogene, thrombopoietin receptor", "omim_gene": [ "159530" ], "alias_name": null, "gene_symbol": "MPL", "hgnc_symbol": "MPL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:43803478-43818443", "ensembl_id": "ENSG00000117400" } }, "GRch38": { "90": { "location": "1:43337849-43352772", "ensembl_id": "ENSG00000117400" } } }, "hgnc_date_symbol_changed": "1990-09-10" }, "entity_type": "gene", "entity_name": "MPL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "IBMDx Study", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Thrombocythemia 2, MIM#601977, AD, SMu", "Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR", "Myelofibrosis with myeloid metaplasia, somatic, MIM#254450" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3829, "hash_id": null, "name": "IBMDx study", "disease_group": "", "disease_sub_group": "", "description": "The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2, BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.", "status": "public", "version": "0.42", "version_created": "2026-03-19T18:45:41.236506+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Research", "slug": "research", "description": "Research panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EPC-1", "PIG35" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8824", "gene_name": "serpin family F member 1", "omim_gene": [ "172860" ], "alias_name": [ "pigment epithelium-derived factor", "proliferation-inducing protein 35" ], "gene_symbol": "SERPINF1", "hgnc_symbol": "SERPINF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:1665253-1680868", "ensembl_id": "ENSG00000132386" } }, "GRch38": { "90": { "location": "17:1761959-1777574", "ensembl_id": "ENSG00000132386" } } }, "hgnc_date_symbol_changed": "1993-05-18" }, "entity_type": "gene", "entity_name": "SERPINF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21353196", "23054245", "37425194" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Osteogenesis imperfecta, type VI, MIM# 613982", "MONDO:0013515" ], "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": [ "FLJ20071", "DMC", "SMC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21317", "gene_name": "dymeclin", "omim_gene": [ "607461" ], "alias_name": null, "gene_symbol": "DYM", "hgnc_symbol": "DYM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:46570039-46987717", "ensembl_id": "ENSG00000141627" } }, "GRch38": { "90": { "location": "18:49041474-49461347", "ensembl_id": "ENSG00000141627" } } }, "hgnc_date_symbol_changed": "2005-01-05" }, "entity_type": "gene", "entity_name": "DYM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16326827", "38860472", "35477554" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Dyggve-Melchior-Clausen disease MIM#223800", "Smith-McCort dysplasia MIM#607326" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:27288", "gene_name": "acyl-CoA synthetase family member 3", "omim_gene": [ "614245" ], "alias_name": [ "malonyl-CoA synthetase" ], "gene_symbol": "ACSF3", "hgnc_symbol": "ACSF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:89154783-89222254", "ensembl_id": "ENSG00000176715" } }, "GRch38": { "90": { "location": "16:89088375-89155846", "ensembl_id": "ENSG00000176715" } } }, "hgnc_date_symbol_changed": "2007-10-17" }, "entity_type": "gene", "entity_name": "ACSF3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21785126, 26915364, 30740739, 26827111, 27604308, 21841779" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "combined malonic and methylmalonic acidemia MONDO:0013661" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0062", "NET34", "ZIP14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20858", "gene_name": "solute carrier family 39 member 14", "omim_gene": [ "608736" ], "alias_name": null, "gene_symbol": "SLC39A14", "hgnc_symbol": "SLC39A14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:22224762-22291642", "ensembl_id": "ENSG00000104635" } }, "GRch38": { "90": { "location": "8:22367249-22434129", "ensembl_id": "ENSG00000104635" } } }, "hgnc_date_symbol_changed": "2003-10-23" }, "entity_type": "gene", "entity_name": "SLC39A14", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31089831" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Hypermanganesemia with dystonia 2, MIM# 617013" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "for review", "treatable", "metabolic" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Nav1.5", "LQT3", "HB1", "HBBD", "PFHB1", "IVF", "HB2", "HH1", "SSS1", "CDCD2", "CMPD2", "ICCD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10593", "gene_name": "sodium voltage-gated channel alpha subunit 5", "omim_gene": [ "600163" ], "alias_name": [ "long QT syndrome 3" ], "gene_symbol": "SCN5A", "hgnc_symbol": "SCN5A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:38589548-38691164", "ensembl_id": "ENSG00000183873" } }, "GRch38": { "90": { "location": "3:38548057-38649673", "ensembl_id": "ENSG00000183873" } } }, "hgnc_date_symbol_changed": "1992-04-10" }, "entity_type": "gene", "entity_name": "SCN5A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "BabySeq Category B gene", "BeginNGS" ], "phenotypes": [ "Long QT syndrome 3 (MIM#603830)", "Brugada syndrome 1, MIM# 601144" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "cardiac", "treatable" ], "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": [ "HsORC4", "Orc4p" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8490", "gene_name": "origin recognition complex subunit 4", "omim_gene": [ "603056" ], "alias_name": null, "gene_symbol": "ORC4", "hgnc_symbol": "ORC4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:148687968-148779147", "ensembl_id": "ENSG00000115947" } }, "GRch38": { "90": { "location": "2:147930397-148021604", "ensembl_id": "ENSG00000115947" } } }, "hgnc_date_symbol_changed": "2010-10-12" }, "entity_type": "gene", "entity_name": "ORC4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Meier-Gorlin syndrome" ], "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": [ "FXIIIB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3534", "gene_name": "coagulation factor XIII B chain", "omim_gene": [ "134580" ], "alias_name": null, "gene_symbol": "F13B", "hgnc_symbol": "F13B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:197008321-197036397", "ensembl_id": "ENSG00000143278" } }, "GRch38": { "90": { "location": "1:197039191-197067267", "ensembl_id": "ENSG00000143278" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "F13B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26247044", "20331752" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Factor XIIIB deficiency, MIM#613235" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3482", "gene_name": "electron transfer flavoprotein beta subunit", "omim_gene": [ "130410" ], "alias_name": null, "gene_symbol": "ETFB", "hgnc_symbol": "ETFB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:51848423-51869672", "ensembl_id": "ENSG00000105379" } }, "GRch38": { "90": { "location": "19:51345169-51366418", "ensembl_id": "ENSG00000105379" } } }, "hgnc_date_symbol_changed": "1990-06-11" }, "entity_type": "gene", "entity_name": "ETFB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7912128", "12815589", "27081516", "12706375", "30626930" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Glutaric acidemia IIB, MIM# 231680" ], "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": [ "KIAA0328" ], "biotype": "protein_coding", "hgnc_id": "HGNC:428", "gene_name": "ALMS1, centrosome and basal body associated protein", "omim_gene": [ "606844" ], "alias_name": null, "gene_symbol": "ALMS1", "hgnc_symbol": "ALMS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:73612886-73837920", "ensembl_id": "ENSG00000116127" } }, "GRch38": { "90": { "location": "2:73385758-73610793", "ensembl_id": "ENSG00000116127" } } }, "hgnc_date_symbol_changed": "1998-10-12" }, "entity_type": "gene", "entity_name": "ALMS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Alstrom syndrome, MIM# 203800" ], "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": [ "ATV", "AT-V2", "AT-V1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7652", "gene_name": "nibrin", "omim_gene": [ "602667" ], "alias_name": null, "gene_symbol": "NBN", "hgnc_symbol": "NBN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:90945564-91015456", "ensembl_id": "ENSG00000104320" } }, "GRch38": { "90": { "location": "8:89933336-90003228", "ensembl_id": "ENSG00000104320" } } }, "hgnc_date_symbol_changed": "2005-06-02" }, "entity_type": "gene", "entity_name": "NBN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33488600", "33082212" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Nijmegen breakage syndrome (MIM#251260)" ], "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": [ "KIAA1171", "TLDC6", "DFNA65" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29203", "gene_name": "TBC1 domain family member 24", "omim_gene": [ "613577" ], "alias_name": [ "TBC/LysM-associated domain containing 6", "skywalker homolog (Drosophila)" ], "gene_symbol": "TBC1D24", "hgnc_symbol": "TBC1D24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:2525147-2555735", "ensembl_id": "ENSG00000162065" } }, "GRch38": { "90": { "location": "16:2475051-2509560", "ensembl_id": "ENSG00000162065" } } }, "hgnc_date_symbol_changed": "2006-04-07" }, "entity_type": "gene", "entity_name": "TBC1D24", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Developmental and epileptic encephalopathy 16 MIM#615338", "DOORS syndrome MIM#220500", "Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105", "Myoclonic epilepsy, infantile, familial MIM#605021" ], "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": [ "FLJ20487", "SDH5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26034", "gene_name": "succinate dehydrogenase complex assembly factor 2", "omim_gene": [ "613019" ], "alias_name": null, "gene_symbol": "SDHAF2", "hgnc_symbol": "SDHAF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:61197514-61215001", "ensembl_id": "ENSG00000167985" } }, "GRch38": { "90": { "location": "11:61430042-61447529", "ensembl_id": "ENSG00000167985" } } }, "hgnc_date_symbol_changed": "2009-08-10" }, "entity_type": "gene", "entity_name": "SDHAF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert Review", "Expert list" ], "phenotypes": [ "Renal carcinoma, MONDO:0005206", "Hereditary pheochromocytoma-paraganglioma, MONDO:0017366", "Pheochromocytoma/paraganglioma syndrome 2, MIM#601650" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4367, "hash_id": null, "name": "Kidney Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with kidney cancer. \r\n\r\nFurther information on the testing criteria for kidney cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3889-renal-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with kidney cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.12", "version_created": "2026-02-21T14:02:42.792697+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ACTHR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6930", "gene_name": "melanocortin 2 receptor", "omim_gene": [ "607397" ], "alias_name": [ "adrenocorticotropic hormone receptor" ], "gene_symbol": "MC2R", "hgnc_symbol": "MC2R", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:13882043-13915706", "ensembl_id": "ENSG00000185231" } }, "GRch38": { "90": { "location": "18:13882044-13915707", "ensembl_id": "ENSG00000185231" } } }, "hgnc_date_symbol_changed": "1993-07-20" }, "entity_type": "gene", "entity_name": "MC2R", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8094489", "8227361" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 4523, "hash_id": null, "name": "Adrenal insufficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.", "status": "public", "version": "0.76", "version_created": "2026-03-19T16:21:18.336273+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": "str", "entity_name": "ATN1_DRPLA_CAG", "confidence_level": "3", "penetrance": null, "publications": [ "29325606", "20301664" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Dentatorubral-pallidoluysian atrophy MIM#125370" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "12", "grch37_coordinates": [ 7045892, 7045936 ], "grch38_coordinates": [ 6936729, 6936773 ], "normal_repeats": 35, "pathogenic_repeats": 48, "tags": [ "STR" ], "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": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "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": [] } } ] }