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{ "count": 36040, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=242", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=240", "results": [ { "gene_data": { "alias": [ "LR3", "BMND1", "HBM", "OPS", "OPTA1", "VBCH2", "EVR4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6697", "gene_name": "LDL receptor related protein 5", "omim_gene": [ "603506" ], "alias_name": null, "gene_symbol": "LRP5", "hgnc_symbol": "LRP5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:68080077-68216743", "ensembl_id": "ENSG00000162337" } }, "GRch38": { "90": { "location": "11:68312609-68449275", "ensembl_id": "ENSG00000162337" } } }, "hgnc_date_symbol_changed": "1998-04-07" }, "entity_type": "gene", "entity_name": "LRP5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland", "Victorian Clinical Genetics Services", "Expert Review Green", "Melbourne Genomics Health Alliance Perinatal Autopsy Flagship" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.246", "version_created": "2026-03-02T10:22:48.751874+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OFC6", "VWS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6121", "gene_name": "interferon regulatory factor 6", "omim_gene": [ "607199" ], "alias_name": null, "gene_symbol": "IRF6", "hgnc_symbol": "IRF6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:209959036-209979465", "ensembl_id": "ENSG00000117595" } }, "GRch38": { "90": { "location": "1:209785623-209806175", "ensembl_id": "ENSG00000117595" } } }, "hgnc_date_symbol_changed": "1997-10-16" }, "entity_type": "gene", "entity_name": "IRF6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Popliteal pterygium syndrome 1MIM#119500" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HD4ST", "D4ST-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24464", "gene_name": "carbohydrate sulfotransferase 14", "omim_gene": [ "608429" ], "alias_name": null, "gene_symbol": "CHST14", "hgnc_symbol": "CHST14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40763160-40765353", "ensembl_id": "ENSG00000169105" } }, "GRch38": { "90": { "location": "15:40470998-40474571", "ensembl_id": "ENSG00000169105" } } }, "hgnc_date_symbol_changed": "2007-03-27" }, "entity_type": "gene", "entity_name": "CHST14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Ehlers-Danlos syndrome, musculocontractural type 1, MIM#\t601776" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 54, "hash_id": null, "name": "Bleeding and Platelet Disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.", "status": "public", "version": "1.77", "version_created": "2026-04-08T12:32:35.286494+10:00", "relevant_disorders": [ "Abnormal bleeding", "HP:0001892;Abnormal thrombosis", "HP:0001977" ], "stats": { "number_of_genes": 140, "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": [ "FXI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3529", "gene_name": "coagulation factor XI", "omim_gene": [ "264900" ], "alias_name": [ "plasma thromboplastin antecedent" ], "gene_symbol": "F11", "hgnc_symbol": "F11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:187187099-187210835", "ensembl_id": "ENSG00000088926" } }, "GRch38": { "90": { "location": "4:186265945-186288806", "ensembl_id": "ENSG00000088926" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "F11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18446632", "15026311" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Factor XI deficiency, autosomal dominant 612416", "Factor XI deficiency, autosomal recessive, MIM#612416" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 54, "hash_id": null, "name": "Bleeding and Platelet Disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.", "status": "public", "version": "1.77", "version_created": "2026-04-08T12:32:35.286494+10:00", "relevant_disorders": [ "Abnormal bleeding", "HP:0001892;Abnormal thrombosis", "HP:0001977" ], "stats": { "number_of_genes": 140, "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": [ "LGMD2I", "MDC1C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17997", "gene_name": "fukutin related protein", "omim_gene": [ "606596" ], "alias_name": null, "gene_symbol": "FKRP", "hgnc_symbol": "FKRP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:47249303-47280245", "ensembl_id": "ENSG00000181027" } }, "GRch38": { "90": { "location": "19:46746046-46776988", "ensembl_id": "ENSG00000181027" } } }, "hgnc_date_symbol_changed": "2003-12-04" }, "entity_type": "gene", "entity_name": "FKRP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153", "Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612", "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 68, "hash_id": null, "name": "Congenital Disorders of Glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.85", "version_created": "2026-04-02T10:46:27.496905+11:00", "relevant_disorders": [ "Abnormal transferrin saturation", "HP:0040135" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "WAGR", "WIT-2", "AWT1", "NPHS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12796", "gene_name": "Wilms tumor 1", "omim_gene": [ "607102" ], "alias_name": null, "gene_symbol": "WT1", "hgnc_symbol": "WT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:32409321-32457176", "ensembl_id": "ENSG00000184937" } }, "GRch38": { "90": { "location": "11:32387775-32435630", "ensembl_id": "ENSG00000184937" } } }, "hgnc_date_symbol_changed": "1989-04-13" }, "entity_type": "gene", "entity_name": "WT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Denys-Drash syndrome, MIM# 194080" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 69, "hash_id": null, "name": "Congenital diaphragmatic hernia", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with syndromic and non-syndromic congenital diaphragmatic hernia.\r\n\r\nNote pathogenic variants in a broad range of genes have been ascertained in CDH cohorts (e.g. PMID 33461977), so a broader testing approach is recommended particularly in the perinatal period.", "status": "public", "version": "1.18", "version_created": "2025-11-21T16:59:26.431729+11:00", "relevant_disorders": [ "Congenital diaphragmatic hernia HP:0000776" ], "stats": { "number_of_genes": 49, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TM7LN4", "TM7XN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4512", "gene_name": "adhesion G protein-coupled receptor G1", "omim_gene": [ "604110" ], "alias_name": null, "gene_symbol": "ADGRG1", "hgnc_symbol": "ADGRG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:57644564-57698944", "ensembl_id": "ENSG00000205336" } }, "GRch38": { "90": { "location": "16:57610652-57665580", "ensembl_id": "ENSG00000205336" } } }, "hgnc_date_symbol_changed": "2015-03-03" }, "entity_type": "gene", "entity_name": "ADGRG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 20929962", "16240336" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Polymicrogyria, bilateral frontoparietal\t606854", "Polymicrogyria, bilateral perisylvian\t615752" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 72, "hash_id": null, "name": "Cerebellar and Pontocerebellar Hypoplasia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.", "status": "public", "version": "1.100", "version_created": "2026-04-02T11:42:58.167964+11:00", "relevant_disorders": [ "Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879" ], "stats": { "number_of_genes": 122, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SEN54", "SEN54L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27561", "gene_name": "tRNA splicing endonuclease subunit 54", "omim_gene": [ "608755" ], "alias_name": null, "gene_symbol": "TSEN54", "hgnc_symbol": "TSEN54", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:73512141-73520820", "ensembl_id": "ENSG00000182173" } }, "GRch38": { "90": { "location": "17:75516060-75524739", "ensembl_id": "ENSG00000182173" } } }, "hgnc_date_symbol_changed": "2005-03-11" }, "entity_type": "gene", "entity_name": "TSEN54", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Pontocerebellar hypoplasia type 2, MIM#277470" ], "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": [ "DKFZp762I194" ], "biotype": "protein_coding", "hgnc_id": "HGNC:970", "gene_name": "Bardet-Biedl syndrome 5", "omim_gene": [ "603650" ], "alias_name": null, "gene_symbol": "BBS5", "hgnc_symbol": "BBS5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:170335688-170382432", "ensembl_id": "ENSG00000163093" } }, "GRch38": { "90": { "location": "2:169479178-169506655", "ensembl_id": "ENSG00000163093" } } }, "hgnc_date_symbol_changed": "1998-03-25" }, "entity_type": "gene", "entity_name": "BBS5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19252258", "15137946", "10053027", "15637713" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 5, MIM#615983", "MONDO:0014434" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20345", "POC12", "BBS13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7121", "gene_name": "Meckel syndrome, type 1", "omim_gene": [ "609883" ], "alias_name": [ "POC12 centriolar protein homolog (Chlamydomonas)" ], "gene_symbol": "MKS1", "hgnc_symbol": "MKS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:56282803-56296966", "ensembl_id": "ENSG00000011143" } }, "GRch38": { "90": { "location": "17:58205437-58219605", "ensembl_id": "ENSG00000011143" } } }, "hgnc_date_symbol_changed": "1995-11-07" }, "entity_type": "gene", "entity_name": "MKS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17377820", "24886560", "19776033", "33193692", "27570071", "27377014", "18327255", "24608809" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 28, MIM# 617121", "MONDO:0014928", "Meckel syndrome 1, MIM# 249000", "MONDO:0009571", "Bardet-Biedl syndrome 13, MIM# 615990", "MONDO:0014441" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NPHP7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29450", "gene_name": "GLIS family zinc finger 2", "omim_gene": [ "608539" ], "alias_name": [ "nephrocystin-7" ], "gene_symbol": "GLIS2", "hgnc_symbol": "GLIS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:4364762-4389598", "ensembl_id": "ENSG00000126603" } }, "GRch38": { "90": { "location": "16:4314761-4339597", "ensembl_id": "ENSG00000126603" } } }, "hgnc_date_symbol_changed": "2004-07-16" }, "entity_type": "gene", "entity_name": "GLIS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17618285", "23559409", "31676329" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nephronophthisis 7, OMIM#611498", "MONDO:0012680" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0842" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29131", "gene_name": "pleckstrin homology and RUN domain containing M2", "omim_gene": [ "609613" ], "alias_name": null, "gene_symbol": "PLEKHM2", "hgnc_symbol": "PLEKHM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:16010827-16061264", "ensembl_id": "ENSG00000116786" } }, "GRch38": { "90": { "location": "1:15684332-15734769", "ensembl_id": "ENSG00000116786" } } }, "hgnc_date_symbol_changed": "2004-02-27" }, "entity_type": "gene", "entity_name": "PLEKHM2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35862026", "26464484", "38942823", "38490981", "37349842" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Dilated cardiomyopathy MONDO:0005021" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [ "DKFZp434A128", "CILD14", "FAP59" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25244", "gene_name": "coiled-coil domain containing 39", "omim_gene": [ "613798" ], "alias_name": null, "gene_symbol": "CCDC39", "hgnc_symbol": "CCDC39", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:180320646-180588793", "ensembl_id": "ENSG00000145075" } }, "GRch38": { "90": { "location": "3:180602858-180871005", "ensembl_id": "ENSG00000145075" } } }, "hgnc_date_symbol_changed": "2005-11-11" }, "entity_type": "gene", "entity_name": "CCDC39", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21131972", "23255504" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 14, MIM# 613807" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 108, "hash_id": null, "name": "Heterotaxy", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.45", "version_created": "2026-03-17T16:09:39.911604+11:00", "relevant_disorders": [ "Heterotaxy", "HP:0030853; Dextrocardia", "HP:0001651; Asplenia", "HP:0001746; Abnormal spatial orientation of cardiac segments", "HP:0011534; Polysplenia", "HP:0001748;Midline liver", "HP:0034188" ], "stats": { "number_of_genes": 67, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GALA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4296", "gene_name": "galactosidase alpha", "omim_gene": [ "300644" ], "alias_name": null, "gene_symbol": "GLA", "hgnc_symbol": "GLA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:100652791-100662913", "ensembl_id": "ENSG00000102393" } }, "GRch38": { "90": { "location": "X:101397803-101407925", "ensembl_id": "ENSG00000102393" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GLA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30681346" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fabry disease (MIM# 301500)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 111, "hash_id": null, "name": "Hypertrophic cardiomyopathy", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).", "status": "public", "version": "1.25", "version_created": "2026-03-11T18:45:28.302854+11:00", "relevant_disorders": [ "Hypertrophic cardiomyopathy", "HP:0001639" ], "stats": { "number_of_genes": 64, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "YNL147W" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20470", "gene_name": "LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated", "omim_gene": [ "607287" ], "alias_name": null, "gene_symbol": "LSM7", "hgnc_symbol": "LSM7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:2321516-2328619", "ensembl_id": "ENSG00000130332" } }, "GRch38": { "90": { "location": "19:2321517-2328620", "ensembl_id": "ENSG00000130332" } } }, "hgnc_date_symbol_changed": "2003-02-17" }, "entity_type": "gene", "entity_name": "LSM7", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "DOI:https://doi.org/10.1016/j.xhgg.2021.100034" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Leukodystrophy and cerebellar atrophy, MIM# 621191" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10485", "gene_name": "ryanodine receptor 3", "omim_gene": [ "180903" ], "alias_name": null, "gene_symbol": "RYR3", "hgnc_symbol": "RYR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:33603163-34158303", "ensembl_id": "ENSG00000198838" } }, "GRch38": { "90": { "location": "15:33310945-33866121", "ensembl_id": "ENSG00000198838" } } }, "hgnc_date_symbol_changed": "1993-05-12" }, "entity_type": "gene", "entity_name": "RYR3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29498452", "32451403", "31230720", "39762984", "41022857", "39840699", "39220738", "25262651", "29667327" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "congenital heart disease MONDO:0005453", "Congenital myopathy 20, MIM# 620310", "developmental and epileptic encephalopathy (MONDO:0100062)" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:649", "gene_name": "archain 1", "omim_gene": [ "600820" ], "alias_name": null, "gene_symbol": "ARCN1", "hgnc_symbol": "ARCN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118443105-118473748", "ensembl_id": "ENSG00000095139" } }, "GRch38": { "90": { "location": "11:118572390-118603033", "ensembl_id": "ENSG00000095139" } } }, "hgnc_date_symbol_changed": "1994-08-29" }, "entity_type": "gene", "entity_name": "ARCN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27476655", "33154040", "35300924" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DBX", "HLP2", "DDX14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2745", "gene_name": "DEAD-box helicase 3, X-linked", "omim_gene": [ "300160" ], "alias_name": null, "gene_symbol": "DDX3X", "hgnc_symbol": "DDX3X", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:41192651-41223725", "ensembl_id": "ENSG00000215301" } }, "GRch38": { "90": { "location": "X:41333348-41364472", "ensembl_id": "ENSG00000215301" } } }, "hgnc_date_symbol_changed": "2003-06-20" }, "entity_type": "gene", "entity_name": "DDX3X", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30266093", "26235985", "25533962", "33528536", "30936465", "31274575", "30817323" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0209" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2988", "gene_name": "dedicator of cytokinesis 2", "omim_gene": [ "603122" ], "alias_name": null, "gene_symbol": "DOCK2", "hgnc_symbol": "DOCK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:169064251-169510386", "ensembl_id": "ENSG00000134516" } }, "GRch38": { "90": { "location": "5:169637247-170083382", "ensembl_id": "ENSG00000134516" } } }, "hgnc_date_symbol_changed": "1998-05-13" }, "entity_type": "gene", "entity_name": "DOCK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26083206", "29204803", "33928462", "30826364", "30838481", "11518968", "41654261", "36836791" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency 40 MIM# 616433", "Inborn error of immunity, MONDO:0003778, DOCK2-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DRC4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4166", "gene_name": "growth arrest specific 8", "omim_gene": [ "605178" ], "alias_name": null, "gene_symbol": "GAS8", "hgnc_symbol": "GAS8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:90086037-90111383", "ensembl_id": "ENSG00000141013" } }, "GRch38": { "90": { "location": "16:90019629-90044975", "ensembl_id": "ENSG00000141013" } } }, "hgnc_date_symbol_changed": "2003-01-17" }, "entity_type": "gene", "entity_name": "GAS8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26387594", "27120127" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 33, MIM#616726" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ISU2", "hnifU", "IscU" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29882", "gene_name": "iron-sulfur cluster assembly enzyme", "omim_gene": [ "611911" ], "alias_name": null, "gene_symbol": "ISCU", "hgnc_symbol": "ISCU", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:108956358-108963160", "ensembl_id": "ENSG00000136003" } }, "GRch38": { "90": { "location": "12:108562582-108569384", "ensembl_id": "ENSG00000136003" } } }, "hgnc_date_symbol_changed": "2006-10-24" }, "entity_type": "gene", "entity_name": "ISCU", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29079705", "18304497", "18296749", "19567699" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myopathy with lactic acidosis, hereditary, MIM# 255125" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "deep intronic", "founder" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RP43" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8785", "gene_name": "phosphodiesterase 6A", "omim_gene": [ "180071" ], "alias_name": null, "gene_symbol": "PDE6A", "hgnc_symbol": "PDE6A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:149237519-149324356", "ensembl_id": "ENSG00000132915" } }, "GRch38": { "90": { "location": "5:149857955-149944793", "ensembl_id": "ENSG00000132915" } } }, "hgnc_date_symbol_changed": "1990-03-20" }, "entity_type": "gene", "entity_name": "PDE6A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "35033039", "34926197", "18849587", "21039428", "17110911", "7493036" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Retinitis pigmentosa 43 - MIM#613810" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SSV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8800", "gene_name": "platelet derived growth factor subunit B", "omim_gene": [ "190040" ], "alias_name": [ "oncogene SIS", "becaplermin" ], "gene_symbol": "PDGFB", "hgnc_symbol": "PDGFB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:39619364-39640756", "ensembl_id": "ENSG00000100311" } }, "GRch38": { "90": { "location": "22:39223359-39244751", "ensembl_id": "ENSG00000100311" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PDGFB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23913003", "30952898", "30609140" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Basal ganglia calcification, idiopathic, 5 , MIM#615483" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PGAM-M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8889", "gene_name": "phosphoglycerate mutase 2", "omim_gene": [ "612931" ], "alias_name": null, "gene_symbol": "PGAM2", "hgnc_symbol": "PGAM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:44102326-44105186", "ensembl_id": "ENSG00000164708" } }, "GRch38": { "90": { "location": "7:44062727-44065587", "ensembl_id": "ENSG00000164708" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "PGAM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8447317", "34237446", "30310767" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease X, MIM# 261670" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "4T2HC", "4F2", "NACAE", "CD98", "CD98HC", "4F2HC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11026", "gene_name": "solute carrier family 3 member 2", "omim_gene": [ "158070" ], "alias_name": [ "antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "antigen defined by monoclonal antibody 4F2", "heavy chain", "4F2 heavy chain", "CD98 heavy chain", "monoclonal antibody 44D7", "4F2 cell-surface antigen heavy chain", "lymphocyte activation antigen 4F2 large subunit" ], "gene_symbol": "SLC3A2", "hgnc_symbol": "SLC3A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:62623518-62656352", "ensembl_id": "ENSG00000168003" } }, "GRch38": { "90": { "location": "11:62856102-62888875", "ensembl_id": "ENSG00000168003" } } }, "hgnc_date_symbol_changed": "1994-02-15" }, "entity_type": "gene", "entity_name": "SLC3A2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31701662" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Autism" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSPC049", "SORF-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24997", "gene_name": "WD repeat domain 91", "omim_gene": [ "616303" ], "alias_name": null, "gene_symbol": "WDR91", "hgnc_symbol": "WDR91", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:134868590-134896316", "ensembl_id": "ENSG00000105875" } }, "GRch38": { "90": { "location": "7:135183839-135211534", "ensembl_id": "ENSG00000105875" } } }, "hgnc_date_symbol_changed": "2007-06-18" }, "entity_type": "gene", "entity_name": "WDR91", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32732226", "38041506", "34791078", "40550703", "28860274", "34028500", "ClinVar: SCV000965687.1" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Complex neurodevelopmental disorder MONDO:0100038" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": null, "hgnc_id": "HGNC:12309", "gene_name": "zinc finger HIT-type containing 3", "omim_gene": [ "604500" ], "alias_name": null, "gene_symbol": "ZNHIT3", "hgnc_symbol": "ZNHIT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:34842473-34855154", "ensembl_id": "ENSG00000108278" } }, "GRch38": { "90": { "location": "17:36486629-36499310", "ensembl_id": "ENSG00000273611" } } }, "hgnc_date_symbol_changed": "2005-09-08" }, "entity_type": "gene", "entity_name": "ZNHIT3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28335020", "28335020", "31048081" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "PEHO syndrome, MIM# 260565" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PURL", "FGARAT", "KIAA0361", "GATD8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8863", "gene_name": "phosphoribosylformylglycinamidine synthase", "omim_gene": [ "602133" ], "alias_name": [ "FGAR amidotransferase" ], "gene_symbol": "PFAS", "hgnc_symbol": "PFAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:8150936-8173809", "ensembl_id": "ENSG00000178921" } }, "GRch38": { "90": { "location": "17:8247618-8270491", "ensembl_id": "ENSG00000178921" } } }, "hgnc_date_symbol_changed": "1998-01-16" }, "entity_type": "gene", "entity_name": "PFAS", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40421664" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Inborn error of metabolism, MONDO:0019052, PFAS-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MOG1", "HSPC165", "HSPC236", "RANGNRF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17679", "gene_name": "RAN guanine nucleotide release factor", "omim_gene": [ "607954" ], "alias_name": [ "MOG1 homolog (S. cerevisiae)" ], "gene_symbol": "RANGRF", "hgnc_symbol": "RANGRF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:8191815-8193410", "ensembl_id": "ENSG00000108961" } }, "GRch38": { "90": { "location": "17:8288497-8290092", "ensembl_id": "ENSG00000108961" } } }, "hgnc_date_symbol_changed": "2007-06-21" }, "entity_type": "gene", "entity_name": "RANGRF", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "ClinGen", "Expert Review Red", "Expert Review Red", "ClinGen" ], "phenotypes": [ "Brugada syndrome, MONDO:0015263" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DRP-1", "DPYSL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2365", "gene_name": "collapsin response mediator protein 1", "omim_gene": [ "602462" ], "alias_name": null, "gene_symbol": "CRMP1", "hgnc_symbol": "CRMP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:5749811-5894785", "ensembl_id": "ENSG00000072832" } }, "GRch38": { "90": { "location": "4:5748084-5893058", "ensembl_id": "ENSG00000072832" } } }, "hgnc_date_symbol_changed": "1997-01-16" }, "entity_type": "gene", "entity_name": "CRMP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36511780", "39758889" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder, MONDO:0700092, CRMP2-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6381", "gene_name": "kynurenine 3-monooxygenase", "omim_gene": [ "603538" ], "alias_name": [ "kynurenine 3-hydroxylase" ], "gene_symbol": "KMO", "hgnc_symbol": "KMO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:241695434-241758944", "ensembl_id": "ENSG00000117009" } }, "GRch38": { "90": { "location": "1:241532134-241595642", "ensembl_id": "ENSG00000117009" } } }, "hgnc_date_symbol_changed": "1998-12-18" }, "entity_type": "gene", "entity_name": "KMO", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28187857", "24189070" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "pellagra MONDO:0019975" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MMSET", "KMT3G" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12766", "gene_name": "nuclear receptor binding SET domain protein 2", "omim_gene": [ "602952" ], "alias_name": [ "multiple myeloma SET domain containing protein" ], "gene_symbol": "NSD2", "hgnc_symbol": "NSD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:1873151-1983934", "ensembl_id": "ENSG00000109685" } }, "GRch38": { "90": { "location": "4:1871424-1982207", "ensembl_id": "ENSG00000109685" } } }, "hgnc_date_symbol_changed": "2016-11-18" }, "entity_type": "gene", "entity_name": "NSD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30345613", "31171569" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Rauch-Steindl syndrome, MIM# 619695", "Microcephaly", "intellectual disability" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "MCPH7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10879", "gene_name": "STIL, centriolar assembly protein", "omim_gene": [ "181590" ], "alias_name": null, "gene_symbol": "STIL", "hgnc_symbol": "STIL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:47715811-47779819", "ensembl_id": "ENSG00000123473" } }, "GRch38": { "90": { "location": "1:47250139-47314147", "ensembl_id": "ENSG00000123473" } } }, "hgnc_date_symbol_changed": "2005-11-29" }, "entity_type": "gene", "entity_name": "STIL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19215732", "22989186", "25218063", "33132204", "32677750", "29230157" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microcephaly 7, primary, autosomal recessive, MIM# 612703", "MONDO:0012989" ], "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": [ "HNPCC", "FCC2", "HNPCC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7127", "gene_name": "mutL homolog 1", "omim_gene": [ "120436" ], "alias_name": null, "gene_symbol": "MLH1", "hgnc_symbol": "MLH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:37034823-37107380", "ensembl_id": "ENSG00000076242" } }, "GRch38": { "90": { "location": "3:36993332-37050918", "ensembl_id": "ENSG00000076242" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "MLH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 152, "hash_id": null, "name": "Cancer Predisposition_Paediatric", "disease_group": "Cancer", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.133", "version_created": "2026-01-12T09:35:45.797477+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 106, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8857", "gene_name": "peroxisomal biogenesis factor 16", "omim_gene": [ "603360" ], "alias_name": null, "gene_symbol": "PEX16", "hgnc_symbol": "PEX16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:45931220-45940363", "ensembl_id": "ENSG00000121680" } }, "GRch38": { "90": { "location": "11:45909669-45918812", "ensembl_id": "ENSG00000121680" } } }, "hgnc_date_symbol_changed": "1999-04-07" }, "entity_type": "gene", "entity_name": "PEX16", "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": 155, "hash_id": null, "name": "Peroxisomal Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.61", "version_created": "2025-12-31T14:23:29.190009+11:00", "relevant_disorders": [ "Peroxisomal disease", "MONDO:0019053" ], "stats": { "number_of_genes": 32, "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": [ "FLJ22167", "ALYE870", "PRO1886", "JBTS20", "MKS11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:37234", "gene_name": "transmembrane protein 231", "omim_gene": [ "614949" ], "alias_name": null, "gene_symbol": "TMEM231", "hgnc_symbol": "TMEM231", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:75572015-75590184", "ensembl_id": "ENSG00000205084" } }, "GRch38": { "90": { "location": "16:75536744-75556286", "ensembl_id": "ENSG00000205084" } } }, "hgnc_date_symbol_changed": "2009-10-02" }, "entity_type": "gene", "entity_name": "TMEM231", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23012439", "23349226", "22179047", "30617574", "27449316", "31663672", "25869670" ], "evidence": [ "Expert Review Green", "KidGen_CilioNephronop v38.1.0", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 20, MIM# 614970", "MONDO:0013994", "Meckel syndrome 11, MIM# 615397", "MONDO:0014164" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 193, "hash_id": null, "name": "Renal Ciliopathies and Nephronophthisis", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen", "status": "public", "version": "1.53", "version_created": "2026-03-19T17:14:29.802874+11:00", "relevant_disorders": [ "Abnormality of renal medullary morphology", "HP:0025361; Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hNRD1", "hNRD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7995", "gene_name": "nardilysin convertase", "omim_gene": [ "602651" ], "alias_name": [ "N-arginine dibasic convertase" ], "gene_symbol": "NRDC", "hgnc_symbol": "NRDC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:52254863-52344477", "ensembl_id": "ENSG00000078618" } }, "GRch38": { "90": { "location": "1:51789191-51878937", "ensembl_id": "ENSG00000078618" } } }, "hgnc_date_symbol_changed": "2015-11-11" }, "entity_type": "gene", "entity_name": "NRDC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41449824", "28017472", "34582790", "19935654", "41734767", "41449824" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, NRDC-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BRAF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1097", "gene_name": "B-Raf proto-oncogene, serine/threonine kinase", "omim_gene": [ "164757" ], "alias_name": null, "gene_symbol": "BRAF", "hgnc_symbol": "BRAF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:140419127-140624564", "ensembl_id": "ENSG00000157764" } }, "GRch38": { "90": { "location": "7:140719327-140924764", "ensembl_id": "ENSG00000157764" } } }, "hgnc_date_symbol_changed": "1991-07-16" }, "entity_type": "gene", "entity_name": "BRAF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34309696" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Cardiofaciocutaneous syndrome, MIM# 115150" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GCS1", "CWH41", "DER7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24862", "gene_name": "mannosyl-oligosaccharide glucosidase", "omim_gene": [ "601336" ], "alias_name": [ "glucosidase I", "processing A-glucosidase I" ], "gene_symbol": "MOGS", "hgnc_symbol": "MOGS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74688184-74692537", "ensembl_id": "ENSG00000115275" } }, "GRch38": { "90": { "location": "2:74461057-74465410", "ensembl_id": "ENSG00000115275" } } }, "hgnc_date_symbol_changed": "2009-03-24" }, "entity_type": "gene", "entity_name": "MOGS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31925597", "30587846", "33058492" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIb, MIM# 606056" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GluA3", "GLURC", "MRX94" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4573", "gene_name": "glutamate ionotropic receptor AMPA type subunit 3", "omim_gene": [ "305915" ], "alias_name": null, "gene_symbol": "GRIA3", "hgnc_symbol": "GRIA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:122318006-122624766", "ensembl_id": "ENSG00000125675" } }, "GRch38": { "90": { "location": "X:123184153-123490915", "ensembl_id": "ENSG00000125675" } } }, "hgnc_date_symbol_changed": "1992-02-26" }, "entity_type": "gene", "entity_name": "GRIA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32977175", "17989220", "38038360" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4922", "gene_name": "hexokinase 1", "omim_gene": [ "142600" ], "alias_name": null, "gene_symbol": "HK1", "hgnc_symbol": "HK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:71029740-71161638", "ensembl_id": "ENSG00000156515" } }, "GRch38": { "90": { "location": "10:69269984-69401882", "ensembl_id": "ENSG00000156515" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40469904", "38617198" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with visual defects and brain anomalies, MIM#\t618547" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "cblB", "CFAP23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19331", "gene_name": "methylmalonic aciduria (cobalamin deficiency) cblB type", "omim_gene": [ "607568" ], "alias_name": [ "ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23" ], "gene_symbol": "MMAB", "hgnc_symbol": "MMAB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:109991542-110011679", "ensembl_id": "ENSG00000139428" } }, "GRch38": { "90": { "location": "12:109553737-109573874", "ensembl_id": "ENSG00000139428" } } }, "hgnc_date_symbol_changed": "2003-02-11" }, "entity_type": "gene", "entity_name": "MMAB", "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": [ "Miner1", "ERIS", "NAF-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24212", "gene_name": "CDGSH iron sulfur domain 2", "omim_gene": [ "611507" ], "alias_name": [ "mitoNEET related 1", "endoplasmic reticulum intermembrane small protein", "nutrient-deprivation autophagy factor-1" ], "gene_symbol": "CISD2", "hgnc_symbol": "CISD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:103790135-103810399", "ensembl_id": "ENSG00000145354" } }, "GRch38": { "90": { "location": "4:102868978-102889242", "ensembl_id": "ENSG00000145354" } } }, "hgnc_date_symbol_changed": "2007-08-10" }, "entity_type": "gene", "entity_name": "CISD2", "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": [ "MRPP3", "PRORP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19958", "gene_name": "KIAA0391", "omim_gene": [ "609947" ], "alias_name": [ "mitochondrial RNase P subunit 3", "proteinaceous RNase P" ], "gene_symbol": "KIAA0391", "hgnc_symbol": "KIAA0391", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:35591052-35743271", "ensembl_id": "ENSG00000100890" } }, "GRch38": { "90": { "location": "14:35121846-35277614", "ensembl_id": "ENSG00000100890" } } }, "hgnc_date_symbol_changed": "2003-11-21" }, "entity_type": "gene", "entity_name": "KIAA0391", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 34715011" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 54, MIM# 619737" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "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": [ "dJ967N21.6", "CLS1", "GCD10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16148", "gene_name": "cardiolipin synthase 1", "omim_gene": [ "608188" ], "alias_name": [ "GCD10 homolog (S. cerevisiae)" ], "gene_symbol": "CRLS1", "hgnc_symbol": "CRLS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:5986736-6020699", "ensembl_id": "ENSG00000088766" } }, "GRch38": { "90": { "location": "20:6006090-6040053", "ensembl_id": "ENSG00000088766" } } }, "hgnc_date_symbol_changed": "2006-04-04" }, "entity_type": "gene", "entity_name": "CRLS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35147173" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 57, MIM# 620167" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SIP2-28", "CIB", "KIP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16920", "gene_name": "calcium and integrin binding 1", "omim_gene": [ "602293" ], "alias_name": [ "calmyrin" ], "gene_symbol": "CIB1", "hgnc_symbol": "CIB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:90773207-90777279", "ensembl_id": "ENSG00000185043" } }, "GRch38": { "90": { "location": "15:90229975-90234047", "ensembl_id": "ENSG00000185043" } } }, "hgnc_date_symbol_changed": "2002-05-08" }, "entity_type": "gene", "entity_name": "CIB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30068544" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Epidermodysplasia verruciformis 3, MIM#\t618267", "HPV infections and cancer of the skin" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This 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). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "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" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ13621" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29086", "gene_name": "centrosomal protein 135", "omim_gene": [ "611423" ], "alias_name": null, "gene_symbol": "CEP135", "hgnc_symbol": "CEP135", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:56815037-56899529", "ensembl_id": "ENSG00000174799" } }, "GRch38": { "90": { "location": "4:55948871-56033363", "ensembl_id": "ENSG00000174799" } } }, "hgnc_date_symbol_changed": "2005-12-02" }, "entity_type": "gene", "entity_name": "CEP135", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30214071", "22521416" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Microcephalic primordial dwarfism", "Microcephaly 8, primary, autosomal recessive, 614673" ], "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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PEN11B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11405", "gene_name": "BR serine/threonine kinase 2", "omim_gene": [ "609236" ], "alias_name": [ "serine/threonine kinase 29" ], "gene_symbol": "BRSK2", "hgnc_symbol": "BRSK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:1411129-1483919", "ensembl_id": "ENSG00000174672" } }, "GRch38": { "90": { "location": "11:1389899-1462689", "ensembl_id": "ENSG00000174672" } } }, "hgnc_date_symbol_changed": "2005-01-27" }, "entity_type": "gene", "entity_name": "BRSK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30879638" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, BRSK2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0111", "EIF4AIII", "Fal1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18683", "gene_name": "eukaryotic translation initiation factor 4A3", "omim_gene": [ "608546" ], "alias_name": null, "gene_symbol": "EIF4A3", "hgnc_symbol": "EIF4A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:78109013-78120982", "ensembl_id": "ENSG00000141543" } }, "GRch38": { "90": { "location": "17:80135214-80147183", "ensembl_id": "ENSG00000141543" } } }, "hgnc_date_symbol_changed": "2006-11-27" }, "entity_type": "gene", "entity_name": "EIF4A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24360810" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Robin sequence with cleft mandible and limb anomalies, MIM# 268305", "Richieri-Costa-Pereira syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "STR" ], "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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Kv4.3", "KSHIVB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6239", "gene_name": "potassium voltage-gated channel subfamily D member 3", "omim_gene": [ "605411" ], "alias_name": null, "gene_symbol": "KCND3", "hgnc_symbol": "KCND3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:112313284-112531777", "ensembl_id": "ENSG00000171385" } }, "GRch38": { "90": { "location": "1:111770662-111989155", "ensembl_id": "ENSG00000171385" } } }, "hgnc_date_symbol_changed": "1992-10-05" }, "entity_type": "gene", "entity_name": "KCND3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "35021282", "32823520", "34067185", "34361012" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Spinocerebellar ataxia 19, MIM#607346" ], "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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8840", "gene_name": "peptidase D", "omim_gene": [ "613230" ], "alias_name": [ "prolidase" ], "gene_symbol": "PEPD", "hgnc_symbol": "PEPD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:33877856-34012700", "ensembl_id": "ENSG00000124299" } }, "GRch38": { "90": { "location": "19:33386950-33521794", "ensembl_id": "ENSG00000124299" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PEPD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26110198", "32455636" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Prolidase deficiency MIM#170100" ], "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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "P65" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11509", "gene_name": "synaptotagmin 1", "omim_gene": [ "185605" ], "alias_name": null, "gene_symbol": "SYT1", "hgnc_symbol": "SYT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:79257773-79845788", "ensembl_id": "ENSG00000067715" } }, "GRch38": { "90": { "location": "12:78863993-79452008", "ensembl_id": "ENSG00000067715" } } }, "hgnc_date_symbol_changed": "1990-03-14" }, "entity_type": "gene", "entity_name": "SYT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PubMed: 30107533" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Baker-Gordon syndrome, MIM# 618218", "MONDO:0033864" ], "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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "EEF-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3214", "gene_name": "eukaryotic translation elongation factor 2", "omim_gene": [ "130610" ], "alias_name": [ "polypeptidyl-tRNA translocase" ], "gene_symbol": "EEF2", "hgnc_symbol": "EEF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:3976054-3985467", "ensembl_id": "ENSG00000167658" } }, "GRch38": { "90": { "location": "19:3976056-3985469", "ensembl_id": "ENSG00000167658" } } }, "hgnc_date_symbol_changed": "1991-03-11" }, "entity_type": "gene", "entity_name": "EEF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33355653" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder", "macrocephaly", "hydrocephalus" ], "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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CSBP", "TUNP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5044", "gene_name": "heterogeneous nuclear ribonucleoprotein K", "omim_gene": [ "600712" ], "alias_name": [ "transformation upregulated nuclear protein" ], "gene_symbol": "HNRNPK", "hgnc_symbol": "HNRNPK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:86582998-86595569", "ensembl_id": "ENSG00000165119" } }, "GRch38": { "90": { "location": "9:83968083-83980616", "ensembl_id": "ENSG00000165119" } } }, "hgnc_date_symbol_changed": "2008-04-18" }, "entity_type": "gene", "entity_name": "HNRNPK", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26173930", "26954065", "26638989" ], "evidence": [ "Expert Review Green", "Other", "Expert Review Amber", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "OMIM:616580", "Orphanet:453499", "Au-Kline syndrome:616580", "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "APP3", "NPHPL1", "ICP55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28052", "gene_name": "X-prolyl aminopeptidase 3", "omim_gene": [ "613553" ], "alias_name": [ "Intermediate Cleaving Peptidase 55" ], "gene_symbol": "XPNPEP3", "hgnc_symbol": "XPNPEP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:41253081-41363838", "ensembl_id": "ENSG00000196236" } }, "GRch38": { "90": { "location": "22:40857077-40932815", "ensembl_id": "ENSG00000196236" } } }, "hgnc_date_symbol_changed": "2006-08-02" }, "entity_type": "gene", "entity_name": "XPNPEP3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "perlecan", "PRCAN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5273", "gene_name": "heparan sulfate proteoglycan 2", "omim_gene": [ "142461" ], "alias_name": [ "perlecan proteoglycan" ], "gene_symbol": "HSPG2", "hgnc_symbol": "HSPG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:22148738-22263790", "ensembl_id": "ENSG00000142798" } }, "GRch38": { "90": { "location": "1:21822245-21937297", "ensembl_id": "ENSG00000142798" } } }, "hgnc_date_symbol_changed": "2007-02-16" }, "entity_type": "gene", "entity_name": "HSPG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "38424183", "11101850", "16927315", "11279527" ], "evidence": [ "Expert Review Green", "Illumina TruGenome Clinical Sequencing Services", "UKGTN", "Radboud University Medical Center, Nijmegen", "Expert Review Green", "NHS GMS", "Expert list", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139)", "Dyssegmental dysplasia, Silverman-Handmaker type 224410", "Schwartz-Jampel syndrome, type 1 255800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SYG1", "X3", "SLC53A1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12827", "gene_name": "xenotropic and polytropic retrovirus receptor 1", "omim_gene": [ "605237" ], "alias_name": [ "solute carrier family 53 (phosphate exporter), member 1" ], "gene_symbol": "XPR1", "hgnc_symbol": "XPR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:180601140-180859387", "ensembl_id": "ENSG00000143324" } }, "GRch38": { "90": { "location": "1:180632004-180890251", "ensembl_id": "ENSG00000143324" } } }, "hgnc_date_symbol_changed": "1999-02-19" }, "entity_type": "gene", "entity_name": "XPR1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33433330" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Basal ganglia calcification, idiopathic, 6, MIM# 616413", "brain calcification", "basal ganglia calcification", "paroxysmal dyskinesia", "epilepsy", "DEE" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 259, "hash_id": null, "name": "Paroxysmal Dyskinesia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.", "status": "public", "version": "0.145", "version_created": "2026-01-09T20:58:50.808183+11:00", "relevant_disorders": [ "Paroxysmal dyskinesia", "HP:0007166" ], "stats": { "number_of_genes": 54, "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": [ "HT019", "P105", "GKLP", "NKTL", "TAPK", "TRAP", "TEIF", "MGC78454" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14372", "gene_name": "SCY1 like pseudokinase 1", "omim_gene": [ "607982" ], "alias_name": [ "teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein" ], "gene_symbol": "SCYL1", "hgnc_symbol": "SCYL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65292548-65306175", "ensembl_id": "ENSG00000142186" } }, "GRch38": { "90": { "location": "11:65525077-65538704", "ensembl_id": "ENSG00000142186" } } }, "hgnc_date_symbol_changed": "2002-11-29" }, "entity_type": "gene", "entity_name": "SCYL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29419818", "17571074", "26581903", "30531813" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 21, 616719", "Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy" ], "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": [ "C90RF3", "FLJ14675", "APO", "AOPEP", "AP-O" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1361", "gene_name": "chromosome 9 open reading frame 3", "omim_gene": null, "alias_name": null, "gene_symbol": "C9orf3", "hgnc_symbol": "C9orf3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:97488983-97849441", "ensembl_id": "ENSG00000148120" } }, "GRch38": { "90": { "location": "9:94726701-95087218", "ensembl_id": "ENSG00000148120" } } }, "hgnc_date_symbol_changed": "1999-01-28" }, "entity_type": "gene", "entity_name": "C9orf3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34596301" ], "evidence": [ "Literature", "Expert Review Green", "Expert Review Green", "Literature" ], "phenotypes": [ "Dystonia 31, MIM#\t619565" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.344", "version_created": "2026-04-06T11:07:45.734922+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HE1", "NP-C2", "EDDM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14537", "gene_name": "NPC intracellular cholesterol transporter 2", "omim_gene": [ "601015" ], "alias_name": [ "epididymal protein 1" ], "gene_symbol": "NPC2", "hgnc_symbol": "NPC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:74942895-74960880", "ensembl_id": "ENSG00000119655" } }, "GRch38": { "90": { "location": "14:74476192-74494177", "ensembl_id": "ENSG00000119655" } } }, "hgnc_date_symbol_changed": "2001-05-11" }, "entity_type": "gene", "entity_name": "NPC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34993563", "17470133" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Niemann-Pick disease, type C2 MONDO:0011873", "Dystonia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.344", "version_created": "2026-04-06T11:07:45.734922+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GFAT", "GFA", "GFAT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4241", "gene_name": "glutamine--fructose-6-phosphate transaminase 1", "omim_gene": [ "138292" ], "alias_name": null, "gene_symbol": "GFPT1", "hgnc_symbol": "GFPT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:69546905-69614382", "ensembl_id": "ENSG00000198380" } }, "GRch38": { "90": { "location": "2:69319769-69387254", "ensembl_id": "ENSG00000198380" } } }, "hgnc_date_symbol_changed": "1993-12-14" }, "entity_type": "gene", "entity_name": "GFPT1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30635494" ], "evidence": [ "Expert Review Amber", "Expert list", "Expert Review Green", "Literature" ], "phenotypes": [ "Myasthenia, congenital, 12, with tubular aggregates 610542", "Leukoencephalopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AIBP", "MGC119143", "MGC119144", "MGC119145", "YJEFN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18453", "gene_name": "NAD(P)HX epimerase", "omim_gene": [ "608862" ], "alias_name": [ "apoA-I binding protein", "NAD(P)H-hydrate epimerase" ], "gene_symbol": "NAXE", "hgnc_symbol": "NAXE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156561554-156564091", "ensembl_id": "ENSG00000163382" } }, "GRch38": { "90": { "location": "1:156591762-156594299", "ensembl_id": "ENSG00000163382" } } }, "hgnc_date_symbol_changed": "2016-03-09" }, "entity_type": "gene", "entity_name": "NAXE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27122014", "27616477", "31758406" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:13997", "gene_name": "PR/SET domain 12", "omim_gene": [ "616458" ], "alias_name": [ "PR-domain containing protein 12", "PR-domain zinc finger protein 12" ], "gene_symbol": "PRDM12", "hgnc_symbol": "PRDM12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:133539981-133558368", "ensembl_id": "ENSG00000130711" } }, "GRch38": { "90": { "location": "9:130664594-130682981", "ensembl_id": "ENSG00000130711" } } }, "hgnc_date_symbol_changed": "2000-11-28" }, "entity_type": "gene", "entity_name": "PRDM12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26005867", "33789102", "33010785", "32828702" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488", "MONDO:0014662", "HSAN/SFN" ], "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": [ "beta-catenin", "armadillo" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2514", "gene_name": "catenin beta 1", "omim_gene": [ "116806" ], "alias_name": null, "gene_symbol": "CTNNB1", "hgnc_symbol": "CTNNB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:41236328-41301587", "ensembl_id": "ENSG00000168036" } }, "GRch38": { "90": { "location": "3:41194837-41260096", "ensembl_id": "ENSG00000168036" } } }, "hgnc_date_symbol_changed": "1993-07-13" }, "entity_type": "gene", "entity_name": "CTNNB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28575650", "33350591", "32039639" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Exudative vitreoretinopathy 7, MIM# 617572", "Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3113, "hash_id": null, "name": "Vitreoretinopathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This is a consensus panel between VCGS and RMH.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "1.9", "version_created": "2025-09-25T12:27:18.666129+10:00", "relevant_disorders": [ "Abnormal posterior eye segment morphology", "HP:0004329" ], "stats": { "number_of_genes": 20, "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": [ "NTE", "sws", "iPLA2delta", "SPG39" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16268", "gene_name": "patatin like phospholipase domain containing 6", "omim_gene": [ "603197" ], "alias_name": [ "neuropathy target esterase" ], "gene_symbol": "PNPLA6", "hgnc_symbol": "PNPLA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:7598890-7626650", "ensembl_id": "ENSG00000032444" } }, "GRch38": { "90": { "location": "19:7534004-7561764", "ensembl_id": "ENSG00000032444" } } }, "hgnc_date_symbol_changed": "2006-07-05" }, "entity_type": "gene", "entity_name": "PNPLA6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Boucher-Neuhauser syndrome, 215470 (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": [ "SBBI88", "Mg11", "HDDC1", "MOP-5", "AGS5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15925", "gene_name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1", "omim_gene": [ "606754" ], "alias_name": [ "HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5" ], "gene_symbol": "SAMHD1", "hgnc_symbol": "SAMHD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:35518632-35580246", "ensembl_id": "ENSG00000101347" } }, "GRch38": { "90": { "location": "20:36890229-36951843", "ensembl_id": "ENSG00000101347" } } }, "hgnc_date_symbol_changed": "2001-07-31" }, "entity_type": "gene", "entity_name": "SAMHD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20842748", "21402907", "27051737", "25672750", "28289923" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Aicardi-Goutieres syndrome 5 MIM#612952" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3141, "hash_id": null, "name": "Stroke", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.", "status": "public", "version": "1.48", "version_created": "2026-03-31T17:20:59.161732+11:00", "relevant_disorders": [ "Stroke", "HP:0001297" ], "stats": { "number_of_genes": 75, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ32658", "KASH5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26520", "gene_name": "coiled-coil domain containing 155", "omim_gene": null, "alias_name": null, "gene_symbol": "CCDC155", "hgnc_symbol": "CCDC155", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:49891475-49921251", "ensembl_id": "ENSG00000161609" } }, "GRch38": { "90": { "location": "19:49388218-49417994", "ensembl_id": "ENSG00000161609" } } }, "hgnc_date_symbol_changed": "2008-08-07" }, "entity_type": "gene", "entity_name": "CCDC155", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35674372", "35708642", "29790874", "35587281" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Premature ovarian insufficiency", "Infertility disorder, MONDO:0005047, CCDC155-related" ], "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": null }, { "gene_data": { "alias": [ "BUBR1", "MAD3L", "Bub1A", "SSK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1149", "gene_name": "BUB1 mitotic checkpoint serine/threonine kinase B", "omim_gene": [ "602860" ], "alias_name": null, "gene_symbol": "BUB1B", "hgnc_symbol": "BUB1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40453224-40513337", "ensembl_id": "ENSG00000156970" } }, "GRch38": { "90": { "location": "15:40161023-40221136", "ensembl_id": "ENSG00000156970" } } }, "hgnc_date_symbol_changed": "1998-03-25" }, "entity_type": "gene", "entity_name": "BUB1B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32716490" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Premature ovarian failure" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.414", "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": [ "bA108K14.6", "CT76" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28852", "gene_name": "synaptonemal complex central element protein 1", "omim_gene": [ "611486" ], "alias_name": [ "cancer/testis antigen 76" ], "gene_symbol": "SYCE1", "hgnc_symbol": "SYCE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:135367404-135382876", "ensembl_id": "ENSG00000171772" } }, "GRch38": { "90": { "location": "10:133553901-133569835", "ensembl_id": "ENSG00000171772" } } }, "hgnc_date_symbol_changed": "2005-09-27" }, "entity_type": "gene", "entity_name": "SYCE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25062452", "32917591", "32741963", "32402064", "31925770", "31916078" ], "evidence": [ "Expert Review Green", "Genetic Health QLD" ], "phenotypes": [ "Premature ovarian failure 12, MIM# 616947" ], "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": null }, { "gene_data": { "alias": [ "RAC", "PKB", "PRKBA", "AKT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:391", "gene_name": "AKT serine/threonine kinase 1", "omim_gene": [ "164730" ], "alias_name": null, "gene_symbol": "AKT1", "hgnc_symbol": "AKT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:105235686-105262088", "ensembl_id": "ENSG00000142208" } }, "GRch38": { "90": { "location": "14:104769349-104795751", "ensembl_id": "ENSG00000142208" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "AKT1", "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": [ "23246288, 21793738, 33030203" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Cowden syndrome 6 615109", "Proteus syndrome, somatic 176920" ], "mode_of_inheritance": "Other", "tags": [ "somatic" ], "panel": { "id": 3181, "hash_id": null, "name": "Vascular Malformations_Somatic", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes that cause vascular malformations as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nIf a germline disorder is suspected, please use the Vascular Malformations_Germline panel.", "status": "public", "version": "1.16", "version_created": "2025-10-02T12:54:21.549968+10:00", "relevant_disorders": [ "Abnormal vascular morphology HP:0025015" ], "stats": { "number_of_genes": 25, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "I-plastin", "Plastin-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9090", "gene_name": "plastin 1", "omim_gene": [ "602734" ], "alias_name": null, "gene_symbol": "PLS1", "hgnc_symbol": "PLS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:142315229-142432506", "ensembl_id": "ENSG00000120756" } }, "GRch38": { "90": { "location": "3:142596387-142713664", "ensembl_id": "ENSG00000120756" } } }, "hgnc_date_symbol_changed": "1997-08-18" }, "entity_type": "gene", "entity_name": "PLS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Deafness" ], "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": [ "DKFZp434D0513", "KIAA1864", "PPP1R31", "CILD5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19368", "gene_name": "HYDIN, axonemal central pair apparatus protein", "omim_gene": [ "610812" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 31" ], "gene_symbol": "HYDIN", "hgnc_symbol": "HYDIN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:70841281-71264625", "ensembl_id": "ENSG00000157423" } }, "GRch38": { "90": { "location": "16:70807378-71230722", "ensembl_id": "ENSG00000157423" } } }, "hgnc_date_symbol_changed": "2003-06-27" }, "entity_type": "gene", "entity_name": "HYDIN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Primary ciliary dyskinesia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2214", "gene_name": "collagen type VII alpha 1 chain", "omim_gene": [ "120120" ], "alias_name": [ "collagen VII, alpha-1 polypeptide", "LC collagen" ], "gene_symbol": "COL7A1", "hgnc_symbol": "COL7A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:48601506-48632700", "ensembl_id": "ENSG00000114270" } }, "GRch38": { "90": { "location": "3:48564073-48595267", "ensembl_id": "ENSG00000114270" } } }, "hgnc_date_symbol_changed": "1991-11-01" }, "entity_type": "gene", "entity_name": "COL7A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Epidermolysis bullosa dystrophica" ], "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": [ "STL2", "CO11A1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2186", "gene_name": "collagen type XI alpha 1 chain", "omim_gene": [ "120280" ], "alias_name": [ "collagen XI, alpha-1 polypeptide" ], "gene_symbol": "COL11A1", "hgnc_symbol": "COL11A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:103342023-103574052", "ensembl_id": "ENSG00000060718" } }, "GRch38": { "90": { "location": "1:102876467-103108496", "ensembl_id": "ENSG00000060718" } } }, "hgnc_date_symbol_changed": "1989-05-08" }, "entity_type": "gene", "entity_name": "COL11A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Stickler 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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:397", "gene_name": "5'-aminolevulinate synthase 2", "omim_gene": [ "301300" ], "alias_name": [ "sideroblastic/hypochromic anemia" ], "gene_symbol": "ALAS2", "hgnc_symbol": "ALAS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:55035488-55057497", "ensembl_id": "ENSG00000158578" } }, "GRch38": { "90": { "location": "X:55009055-55031064", "ensembl_id": "ENSG00000158578" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "ALAS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10029606", "7949148", "10029606" ], "evidence": [ "Expert Review Green", "Yorkshire and North East GLH", "NHS GMS", "Wessex and West Midlands GLH", "North West GLH", "London South GLH", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Anaemia, sideroblastic, 1, MIM# 300751" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3366, "hash_id": null, "name": "Red cell disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.", "status": "public", "version": "1.52", "version_created": "2026-03-28T15:18:36.006857+11:00", "relevant_disorders": [ "Abnormal erythrocyte morphology", "HP:0001877" ], "stats": { "number_of_genes": 116, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP727C091", "MSL1v1", "CENP-36", "NSL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24565", "gene_name": "KAT8 regulatory NSL complex subunit 1", "omim_gene": [ "612452" ], "alias_name": [ "centromere protein 36" ], "gene_symbol": "KANSL1", "hgnc_symbol": "KANSL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:44107282-44302733", "ensembl_id": "ENSG00000120071" } }, "GRch38": { "90": { "location": "17:46029916-46225389", "ensembl_id": "ENSG00000120071" } } }, "hgnc_date_symbol_changed": "2012-02-20" }, "entity_type": "gene", "entity_name": "KANSL1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301783", "22544363" ], "evidence": [ "Expert Review Red" ], "phenotypes": [ "KDVS", "Koolen-De Vries syndrome, 610443" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": [ "MRK", "LCK2", "KIAA0936", "MGC46090" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21219", "gene_name": "intestinal cell kinase", "omim_gene": [ "612325" ], "alias_name": [ "serine/threonine-protein kinase ICK", "MAK-related kinase" ], "gene_symbol": "ICK", "hgnc_symbol": "ICK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:52866077-52926600", "ensembl_id": "ENSG00000112144" } }, "GRch38": { "90": { "location": "6:53001279-53061802", "ensembl_id": "ENSG00000112144" } } }, "hgnc_date_symbol_changed": "2003-08-21" }, "entity_type": "gene", "entity_name": "ICK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19185282", "27069622", "24853502" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "ECO", "Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "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:13666", "gene_name": "aladin WD repeat nucleoporin", "omim_gene": [ "605378" ], "alias_name": [ "aladin", "Allgrove, triple-A", "adracalin" ], "gene_symbol": "AAAS", "hgnc_symbol": "AAAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:53701240-53718648", "ensembl_id": "ENSG00000094914" } }, "GRch38": { "90": { "location": "12:53307456-53324864", "ensembl_id": "ENSG00000094914" } } }, "hgnc_date_symbol_changed": "2000-11-08" }, "entity_type": "gene", "entity_name": "AAAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "OMIM# 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME", "AAAS" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3439, "hash_id": null, "name": "Autonomic neuropathy", "disease_group": "Autonomic Neuropathy", "disease_sub_group": "", "description": "This panel contains genes associated with autonomic neuropathy/dysautonomia, including genes associated with hereditary sensory and autonomic neuropathies (HSAN).", "status": "public", "version": "1.2", "version_created": "2026-03-24T17:08:06.931372+11:00", "relevant_disorders": [ "Abnormality of the autonomic nervous system HP:0002270" ], "stats": { "number_of_genes": 19, "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": [ "PSK-J3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1773", "gene_name": "cyclin dependent kinase 4", "omim_gene": [ "123829" ], "alias_name": null, "gene_symbol": "CDK4", "hgnc_symbol": "CDK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:58141510-58149796", "ensembl_id": "ENSG00000135446" } }, "GRch38": { "90": { "location": "12:57747727-57756013", "ensembl_id": "ENSG00000135446" } } }, "hgnc_date_symbol_changed": "1993-07-28" }, "entity_type": "gene", "entity_name": "CDK4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "40210435" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microcephaly 31, primary, autosomal recessive, MIM# 621507" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TRT", "TP2", "TCS1", "hEST2", "EST2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11730", "gene_name": "telomerase reverse transcriptase", "omim_gene": [ "187270" ], "alias_name": null, "gene_symbol": "TERT", "hgnc_symbol": "TERT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:1253262-1295184", "ensembl_id": "ENSG00000164362" } }, "GRch38": { "90": { "location": "5:1253147-1295069", "ensembl_id": "ENSG00000164362" } } }, "hgnc_date_symbol_changed": "1998-01-21" }, "entity_type": "gene", "entity_name": "TERT", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18042801", "17785587" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Dyskeratosis congenita, autosomal recessive 4, OMIM #613989", "Hoyeraal-Hreidarsson syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10817", "FLJ10376", "DKFZP434P1735", "CILD23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25583", "gene_name": "armadillo repeat containing 4", "omim_gene": [ "615408" ], "alias_name": null, "gene_symbol": "ARMC4", "hgnc_symbol": "ARMC4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:28064115-28287977", "ensembl_id": "ENSG00000169126" } }, "GRch38": { "90": { "location": "10:27812164-27999048", "ensembl_id": "ENSG00000169126" } } }, "hgnc_date_symbol_changed": "2004-02-04" }, "entity_type": "gene", "entity_name": "ARMC4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31765523", "23849778" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 23, MIM# 615451" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Tyro11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3395", "gene_name": "EPH receptor B4", "omim_gene": [ "600011" ], "alias_name": null, "gene_symbol": "EPHB4", "hgnc_symbol": "EPHB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:100400187-100425121", "ensembl_id": "ENSG00000196411" } }, "GRch38": { "90": { "location": "7:100802565-100827521", "ensembl_id": "ENSG00000196411" } } }, "hgnc_date_symbol_changed": "1994-12-15" }, "entity_type": "gene", "entity_name": "EPHB4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27400125", "28687708", "29444212", "29905864", "30578106", "30819650" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD", "Lymphatic malformation 7 (MIM#617300), AD", "hydrops fetalis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BAF190", "hSNF2a", "hBRM", "Sth1p", "SNF2LA", "BRM", "SNF2", "SWI2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11098", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2", "omim_gene": [ "600014" ], "alias_name": [ "brahma homolog" ], "gene_symbol": "SMARCA2", "hgnc_symbol": "SMARCA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:2015342-2193624", "ensembl_id": "ENSG00000080503" } }, "GRch38": { "90": { "location": "9:1980290-2193624", "ensembl_id": "ENSG00000080503" } } }, "hgnc_date_symbol_changed": "1994-07-22" }, "entity_type": "gene", "entity_name": "SMARCA2", "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": [ "26468571", "32694869" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Nicolaides-Baraitser syndrome, MIM #601358", "Blepharophimosis-intellectual disability syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "StAR", "STARD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11359", "gene_name": "steroidogenic acute regulatory protein", "omim_gene": [ "600617" ], "alias_name": [ "StAR related lipid transfer (START) domain containing 1" ], "gene_symbol": "STAR", "hgnc_symbol": "STAR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:38001167-38008783", "ensembl_id": "ENSG00000147465" } }, "GRch38": { "90": { "location": "8:38143649-38151265", "ensembl_id": "ENSG00000147465" } } }, "hgnc_date_symbol_changed": "1996-04-24" }, "entity_type": "gene", "entity_name": "STAR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8948562", "7892608", "8948562", "9097960", "11061515", "11297612", "14764819", "16968793", "9326645" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Lipoid adrenal hyperplasia (MIM#201710)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PARG1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30207", "gene_name": "Rho GTPase activating protein 29", "omim_gene": [ "610496" ], "alias_name": null, "gene_symbol": "ARHGAP29", "hgnc_symbol": "ARHGAP29", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:94614544-94740624", "ensembl_id": "ENSG00000137962" } }, "GRch38": { "90": { "location": "1:94148988-94275068", "ensembl_id": "ENSG00000137962" } } }, "hgnc_date_symbol_changed": "2005-04-28" }, "entity_type": "gene", "entity_name": "ARHGAP29", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27350171", "23008150" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Clefting disorder, MONDO:0000358, ARHGAP29-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARMS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29508", "gene_name": "kinase D interacting substrate 220", "omim_gene": [ "615759" ], "alias_name": [ "ankyrin repeat-rich membrane-spanning protein" ], "gene_symbol": "KIDINS220", "hgnc_symbol": "KIDINS220", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:8865408-8977760", "ensembl_id": "ENSG00000134313" } }, "GRch38": { "90": { "location": "2:8721081-8837630", "ensembl_id": "ENSG00000134313" } } }, "hgnc_date_symbol_changed": "2008-11-25" }, "entity_type": "gene", "entity_name": "KIDINS220", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33205811", "28934391", "22048169", "32909676" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Literature" ], "phenotypes": [ "Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296", "cerebral ventriculomegaly", "limb contractures", "spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:773", "gene_name": "astrotactin 1", "omim_gene": [ "600904" ], "alias_name": null, "gene_symbol": "ASTN1", "hgnc_symbol": "ASTN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:176826438-177134109", "ensembl_id": "ENSG00000152092" } }, "GRch38": { "90": { "location": "1:176857302-177164973", "ensembl_id": "ENSG00000152092" } } }, "hgnc_date_symbol_changed": "2006-08-24" }, "entity_type": "gene", "entity_name": "ASTN1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27431290", "26539891", "29706646", "11861479" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Polymicrogyria", "hypoplastic corpus callosum" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SIC-1", "EWSR2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3749", "gene_name": "Fli-1 proto-oncogene, ETS transcription factor", "omim_gene": [ "193067" ], "alias_name": null, "gene_symbol": "FLI1", "hgnc_symbol": "FLI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:128556430-128683162", "ensembl_id": "ENSG00000151702" } }, "GRch38": { "90": { "location": "11:128686535-128813267", "ensembl_id": "ENSG00000151702" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "FLI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "IBMDx Study", "Expert Review Green", "Expert list" ], "phenotypes": [ "Paris-Trousseau thrombocytopenia and Jacobson syndrome" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:987", "gene_name": "branched chain keto acid dehydrogenase E1 subunit beta", "omim_gene": [ "248611" ], "alias_name": [ "maple syrup urine disease", "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial" ], "gene_symbol": "BCKDHB", "hgnc_symbol": "BCKDHB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:80816364-81055987", "ensembl_id": "ENSG00000083123" } }, "GRch38": { "90": { "location": "6:80106647-80346270", "ensembl_id": "ENSG00000083123" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "BCKDHB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301495", "34883003", "34556729", "34288399" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Maple syrup urine disease, type Ib 620698" ], "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": [ "CPAP", "BM032", "LAP", "LIP1", "Sas-4", "SASS4", "SCKL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17272", "gene_name": "centromere protein J", "omim_gene": [ "609279" ], "alias_name": [ "centrosomal P4.1-associated protein" ], "gene_symbol": "CENPJ", "hgnc_symbol": "CENPJ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:25457171-25497018", "ensembl_id": "ENSG00000151849" } }, "GRch38": { "90": { "location": "13:24882284-24922889", "ensembl_id": "ENSG00000151849" } } }, "hgnc_date_symbol_changed": "2002-02-15" }, "entity_type": "gene", "entity_name": "CENPJ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "36334884" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly 6, primary MIM#608393", "Seckel syndrome 4 MIM#613676" ], "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": [ "EF-Tsmt", "EF-TS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12367", "gene_name": "Ts translation elongation factor, mitochondrial", "omim_gene": [ "604723" ], "alias_name": null, "gene_symbol": "TSFM", "hgnc_symbol": "TSFM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:58176372-58201854", "ensembl_id": "ENSG00000123297" } }, "GRch38": { "90": { "location": "12:57782589-57808071", "ensembl_id": "ENSG00000123297" } } }, "hgnc_date_symbol_changed": "1999-05-25" }, "entity_type": "gene", "entity_name": "TSFM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33816677", "31267352", "30911037", "27677415" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 3, MIM#610505" ], "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": [ "PRO1557", "PRO2086" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11740", "gene_name": "transferrin", "omim_gene": [ "190000" ], "alias_name": null, "gene_symbol": "TF", "hgnc_symbol": "TF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:133464800-133497850", "ensembl_id": "ENSG00000091513" } }, "GRch38": { "90": { "location": "3:133745956-133779006", "ensembl_id": "ENSG00000091513" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32028041" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Atransferrinaemia MIM#209300" ], "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:4006", "gene_name": "alpha-L-fucosidase 1", "omim_gene": [ "612280" ], "alias_name": [ "α-L-fucosidase 1", "tissue fucosidase", "a-L-fucosidase 1" ], "gene_symbol": "FUCA1", "hgnc_symbol": "FUCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24171567-24194784", "ensembl_id": "ENSG00000179163" } }, "GRch38": { "90": { "location": "1:23845077-23868294", "ensembl_id": "ENSG00000179163" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FUCA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33266441" ], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Fucosidosis, MIM# 230000" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "metabolic" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TIF1B", "KAP1", "TF1B", "RNF96", "PPP1R157" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16384", "gene_name": "tripartite motif containing 28", "omim_gene": [ "601742" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 157" ], "gene_symbol": "TRIM28", "hgnc_symbol": "TRIM28", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:59055458-59062089", "ensembl_id": "ENSG00000130726" } }, "GRch38": { "90": { "location": "19:58544091-58550722", "ensembl_id": "ENSG00000130726" } } }, "hgnc_date_symbol_changed": "2001-08-10" }, "entity_type": "gene", "entity_name": "TRIM28", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30694527" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Wilms tumor 7, MIM# 621332" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "cancer", "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": [] }, { "gene_data": { "alias": [ "ROCO2", "DKFZp434H2111", "FLJ45829", "RIPK7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18618", "gene_name": "leucine rich repeat kinase 2", "omim_gene": [ "609007" ], "alias_name": null, "gene_symbol": "LRRK2", "hgnc_symbol": "LRRK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:40590546-40763087", "ensembl_id": "ENSG00000188906" } }, "GRch38": { "90": { "location": "12:40196744-40369285", "ensembl_id": "ENSG00000188906" } } }, "hgnc_date_symbol_changed": "2004-10-22" }, "entity_type": "gene", "entity_name": "LRRK2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Parkinson disease" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20164", "gene_name": "homeobox and leucine zipper encoding", "omim_gene": [ "608119" ], "alias_name": null, "gene_symbol": "HOMEZ", "hgnc_symbol": "HOMEZ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23741666-23768656", "ensembl_id": "ENSG00000215271" } }, "GRch38": { "90": { "location": "14:23272422-23299447", "ensembl_id": "ENSG00000215271" } } }, "hgnc_date_symbol_changed": "2007-02-15" }, "entity_type": "gene", "entity_name": "HOMEZ", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Congenital heart disease" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DLDH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2898", "gene_name": "dihydrolipoamide dehydrogenase", "omim_gene": [ "238331" ], "alias_name": [ "E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex" ], "gene_symbol": "DLD", "hgnc_symbol": "DLD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:107531415-107572175", "ensembl_id": "ENSG00000091140" } }, "GRch38": { "90": { "location": "7:107890970-107931730", "ensembl_id": "ENSG00000091140" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "DLD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "39040027" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Dihydrolipoamide dehydrogenase deficiency (MIM#246900)" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7525", "gene_name": "muscle associated receptor tyrosine kinase", "omim_gene": [ "601296" ], "alias_name": null, "gene_symbol": "MUSK", "hgnc_symbol": "MUSK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:113431051-113563859", "ensembl_id": "ENSG00000030304" } }, "GRch38": { "90": { "location": "9:110668771-110801620", "ensembl_id": "ENSG00000030304" } } }, "hgnc_date_symbol_changed": "1997-04-10" }, "entity_type": "gene", "entity_name": "MUSK", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25612909", "25537362", "31750350", "38566418" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Fetal akinesia deformation sequence 1, MIM# 208150" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.143", "version_created": "2026-04-13T17:24:02.975530+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 265, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DOM", "WS4", "WS2E" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11190", "gene_name": "SRY-box 10", "omim_gene": [ "602229" ], "alias_name": [ "dominant megacolon, mouse, human homolog of" ], "gene_symbol": "SOX10", "hgnc_symbol": "SOX10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:38366693-38383429", "ensembl_id": "ENSG00000100146" } }, "GRch38": { "90": { "location": "22:37970686-37987422", "ensembl_id": "ENSG00000100146" } } }, "hgnc_date_symbol_changed": "1998-01-22" }, "entity_type": "gene", "entity_name": "SOX10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "23643381", "15004559" ], "evidence": [ "Expert Review", "Expert Review Green", "Expert Review" ], "phenotypes": [ "Kallman syndrome", "PCWH syndrome (MIM#609136)", "Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584)", "Waardenburg syndrome, type 4C (MIM#613266)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.115", "version_created": "2026-04-12T14:11:38.693654+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 84, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "P450C17", "CPT7", "S17AH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2593", "gene_name": "cytochrome P450 family 17 subfamily A member 1", "omim_gene": [ "609300" ], "alias_name": [ "Steroid 17-alpha-monooxygenase" ], "gene_symbol": "CYP17A1", "hgnc_symbol": "CYP17A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:104590288-104597290", "ensembl_id": "ENSG00000148795" } }, "GRch38": { "90": { "location": "10:102830531-102837533", "ensembl_id": "ENSG00000148795" } } }, "hgnc_date_symbol_changed": "2003-02-28" }, "entity_type": "gene", "entity_name": "CYP17A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 2843762, 14671162, 2026124" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list", "Expert list", "Expert list" ], "phenotypes": [ "17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4523, "hash_id": null, "name": "Adrenal insufficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.", "status": "public", "version": "0.76", "version_created": "2026-03-19T16:21:18.336273+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] } ] }