Entity Search List
Search Entities
GET /api/v1/entities/?format=api&page=62
{ "count": 36035, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=63", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=61", "results": [ { "gene_data": { "alias": [ "CTX", "CP27" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2605", "gene_name": "cytochrome P450 family 27 subfamily A member 1", "omim_gene": [ "606530" ], "alias_name": [ "cerebrotendinous xanthomatosis" ], "gene_symbol": "CYP27A1", "hgnc_symbol": "CYP27A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:219646472-219680016", "ensembl_id": "ENSG00000135929" } }, "GRch38": { "90": { "location": "2:218781749-218815293", "ensembl_id": "ENSG00000135929" } } }, "hgnc_date_symbol_changed": "1991-08-22" }, "entity_type": "gene", "entity_name": "CYP27A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebrotendinous xanthomatosis, MIM# 213700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 24, "hash_id": null, "name": "Early-onset Dementia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.58", "version_created": "2026-03-31T16:43:37.497568+11:00", "relevant_disorders": [ "Cognitive impairment", "HP:0100543" ], "stats": { "number_of_genes": 96, "number_of_strs": 6, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UBOX1", "CHIP", "SDCCAG7", "HSPABP2", "NY-CO-7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11427", "gene_name": "STIP1 homology and U-box containing protein 1", "omim_gene": [ "607207" ], "alias_name": null, "gene_symbol": "STUB1", "hgnc_symbol": "STUB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:730224-732870", "ensembl_id": "ENSG00000103266" } }, "GRch38": { "90": { "location": "16:680224-682870", "ensembl_id": "ENSG00000103266" } } }, "hgnc_date_symbol_changed": "1999-11-25" }, "entity_type": "gene", "entity_name": "STUB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30381368", "32285148", "32337344" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spinocerebellar Ataxia 48, OMIM 618093", "Parkinsonism" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.51", "version_created": "2026-03-30T11:47:22.375379+11:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MEL-18" ], "biotype": null, "hgnc_id": "HGNC:12929", "gene_name": "polycomb group ring finger 2", "omim_gene": [ "600346" ], "alias_name": null, "gene_symbol": "PCGF2", "hgnc_symbol": "PCGF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:36890150-36906070", "ensembl_id": "ENSG00000056661" } }, "GRch38": { "90": { "location": "17:38733897-38749817", "ensembl_id": "ENSG00000277258" } } }, "hgnc_date_symbol_changed": "2005-01-19" }, "entity_type": "gene", "entity_name": "PCGF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30343942" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Turnpenny-Fry syndrome, MIM#618371" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 44, "hash_id": null, "name": "Aortopathy_Connective Tissue Disorders", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.", "status": "public", "version": "1.105", "version_created": "2026-02-05T18:09:24.690760+11:00", "relevant_disorders": [ "Aortic aneurysm", "HP:0004942;Joint dislocation", "HP:0001373;Cutis laxa", "HP:0000973; Ectopia lentis", "HP:0001083;Arachnodactyly", "HP:0001166" ], "stats": { "number_of_genes": 100, "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": [ "HT2A", "TATIP", "BBS11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16380", "gene_name": "tripartite motif containing 32", "omim_gene": [ "602290" ], "alias_name": null, "gene_symbol": "TRIM32", "hgnc_symbol": "TRIM32", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:119449581-119463579", "ensembl_id": "ENSG00000119401" } }, "GRch38": { "90": { "location": "9:116687302-116701300", "ensembl_id": "ENSG00000119401" } } }, "hgnc_date_symbol_changed": "2001-08-10" }, "entity_type": "gene", "entity_name": "TRIM32", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16606853" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 11, MIM# 615988" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 53, "hash_id": null, "name": "Bardet Biedl syndrome", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nBardet Biedl syndrome is a multisystem ciliopathy characterised by a combination of obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities.\r\n\r\nMany ciliopathies present with overlapping features, please refer to the Ciliopathy panel if broader spectrum of conditions are being considered.", "status": "public", "version": "1.14", "version_created": "2025-05-21T20:50:29.131780+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 27, "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": [ "Hek5", "Tyro5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3393", "gene_name": "EPH receptor B2", "omim_gene": [ "600997" ], "alias_name": null, "gene_symbol": "EPHB2", "hgnc_symbol": "EPHB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:23037332-23241818", "ensembl_id": "ENSG00000133216" } }, "GRch38": { "90": { "location": "1:22710839-22921500", "ensembl_id": "ENSG00000133216" } } }, "hgnc_date_symbol_changed": "1995-05-09" }, "entity_type": "gene", "entity_name": "EPHB2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30213874", "25370417" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Bleeding disorder, platelet-type, 22, MIM#\t618462" ], "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": [ "FAF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3587", "gene_name": "Fanconi anemia complementation group F", "omim_gene": [ "613897" ], "alias_name": null, "gene_symbol": "FANCF", "hgnc_symbol": "FANCF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:22644079-22647387", "ensembl_id": "ENSG00000183161" } }, "GRch38": { "90": { "location": "11:22622519-22626787", "ensembl_id": "ENSG00000183161" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "FANCF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10615118", "31288759" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fanconi anaemia, complementation group F 603467", "MONDO:0011325" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 56, "hash_id": null, "name": "Bone Marrow Failure", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.", "status": "public", "version": "1.141", "version_created": "2026-03-17T18:48:23.244194+11:00", "relevant_disorders": [ "Abnormality of multiple cell lineages of the bone marrow", "HP:0012145" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25938945", "27230854", "29955172", "33433330" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Basal ganglia calcification, idiopathic, 6, MIM# 616413" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 58, "hash_id": null, "name": "Brain Calcification", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.", "status": "public", "version": "2.6", "version_created": "2026-01-08T18:01:53.861975+11:00", "relevant_disorders": [ "Cerebral calcification", "HP:0002514" ], "stats": { "number_of_genes": 96, "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": [ "trnG" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7486", "gene_name": "mitochondrially encoded tRNA glycine", "omim_gene": [ "590035" ], "alias_name": null, "gene_symbol": "MT-TG", "hgnc_symbol": "MT-TG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:9991-10058", "ensembl_id": "ENSG00000210164" } }, "GRch38": { "90": { "location": "MT:9991-10058", "ensembl_id": "ENSG00000210164" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8079988", "9199564", "11971101", "16120360", "32337339", "35432167", "10090480" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TG-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "COD1", "DKFZP586E1519" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18620", "gene_name": "component of oligomeric golgi complex 4", "omim_gene": [ "606976" ], "alias_name": null, "gene_symbol": "COG4", "hgnc_symbol": "COG4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:70514471-70557468", "ensembl_id": "ENSG00000103051" } }, "GRch38": { "90": { "location": "16:70480568-70523565", "ensembl_id": "ENSG00000103051" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "COG4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21185756", "19494034" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIj 613489" ], "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": [ "GPT", "D11S366", "DGPT", "ALG7", "CDG-Ij" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2995", "gene_name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1", "omim_gene": [ "191350" ], "alias_name": [ "GlcNAc-1-P transferase 1", "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1" ], "gene_symbol": "DPAGT1", "hgnc_symbol": "DPAGT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118967213-118979041", "ensembl_id": "ENSG00000172269" } }, "GRch38": { "90": { "location": "11:119096503-119108331", "ensembl_id": "ENSG00000172269" } } }, "hgnc_date_symbol_changed": "1993-12-13" }, "entity_type": "gene", "entity_name": "DPAGT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12872255", "22492991", "22304930", "31153949", "30653653", "30117111" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ij, MIM# 608093", "DPAGT1-CDG MONDO:0011964" ], "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": [ "HP10481" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13530", "gene_name": "transmembrane protein 5", "omim_gene": [ "605862" ], "alias_name": null, "gene_symbol": "TMEM5", "hgnc_symbol": "TMEM5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:64173583-64203338", "ensembl_id": "ENSG00000118600" } }, "GRch38": { "90": { "location": "12:63779803-63809558", "ensembl_id": "ENSG00000118600" } } }, "hgnc_date_symbol_changed": "2000-09-20" }, "entity_type": "gene", "entity_name": "TMEM5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23217329" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (MIM#615041)" ], "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": [ "RNF53", "BRCC1", "PPP1R53", "FANCS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1100", "gene_name": "BRCA1, DNA repair associated", "omim_gene": [ "113705" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53", "Fanconi anemia, complementation group S" ], "gene_symbol": "BRCA1", "hgnc_symbol": "BRCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:41196312-41277500", "ensembl_id": "ENSG00000012048" } }, "GRch38": { "90": { "location": "17:43044295-43170245", "ensembl_id": "ENSG00000012048" } } }, "hgnc_date_symbol_changed": "1991-02-20" }, "entity_type": "gene", "entity_name": "BRCA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23269703", "29133208", "25472942", "29712865" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Fanconi anemia, complementation group S, MIM#\t617883" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 79, "hash_id": null, "name": "Chromosome Breakage Disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.", "status": "public", "version": "1.24", "version_created": "2025-10-16T15:58:38.818741+11:00", "relevant_disorders": [ "Chromosome breakage HP:0040012" ], "stats": { "number_of_genes": 60, "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": [ "ENaCgamma", "SCNEG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10602", "gene_name": "sodium channel epithelial 1 gamma subunit", "omim_gene": [ "600761" ], "alias_name": null, "gene_symbol": "SCNN1G", "hgnc_symbol": "SCNN1G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23194036-23228204", "ensembl_id": "ENSG00000166828" } }, "GRch38": { "90": { "location": "16:23182715-23216883", "ensembl_id": "ENSG00000166828" } } }, "hgnc_date_symbol_changed": "1995-05-10" }, "entity_type": "gene", "entity_name": "SCNN1G", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29997923", "30801930", "18507830" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Bronchiectasis with or without elevated sweat chloride 3, MIM#\t613071" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11073", "gene_name": "solute carrier family 9 member A3", "omim_gene": [ "182307" ], "alias_name": null, "gene_symbol": "SLC9A3", "hgnc_symbol": "SLC9A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:473425-524447", "ensembl_id": "ENSG00000066230" } }, "GRch38": { "90": { "location": "5:473310-524332", "ensembl_id": "ENSG00000066230" } } }, "hgnc_date_symbol_changed": "1992-06-12" }, "entity_type": "gene", "entity_name": "SLC9A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30633106", "31276831", "26358773" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diarrhoea 8, secretory sodium, congenital 616868" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.", "status": "public", "version": "1.30", "version_created": "2025-11-20T10:28:34.792243+11:00", "relevant_disorders": [ "Diarrhea HP:0002014" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HUGT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15663", "gene_name": "UDP-glucose glycoprotein glucosyltransferase 1", "omim_gene": [ "605897" ], "alias_name": null, "gene_symbol": "UGGT1", "hgnc_symbol": "UGGT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:128848774-128953251", "ensembl_id": "ENSG00000136731" } }, "GRch38": { "90": { "location": "2:128091200-128195677", "ensembl_id": "ENSG00000136731" } } }, "hgnc_date_symbol_changed": "2009-07-23" }, "entity_type": "gene", "entity_name": "UGGT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation, type IICC, MIM# 621381" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.47", "version_created": "2026-04-06T10:50:25.990411+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7978", "gene_name": "nuclear receptor subfamily 3 group C member 1", "omim_gene": [ "138040" ], "alias_name": [ "glucocorticoid receptor" ], "gene_symbol": "NR3C1", "hgnc_symbol": "NR3C1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:142657496-142815077", "ensembl_id": "ENSG00000113580" } }, "GRch38": { "90": { "location": "5:143277931-143435512", "ensembl_id": "ENSG00000113580" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "NR3C1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30158362" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glucocorticoid resistance (MIM#615962)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.47", "version_created": "2026-04-06T10:50:25.990411+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4180", "gene_name": "1,4-alpha-glucan branching enzyme 1", "omim_gene": [ "607839" ], "alias_name": [ "glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV" ], "gene_symbol": "GBE1", "hgnc_symbol": "GBE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:81538850-81811312", "ensembl_id": "ENSG00000114480" } }, "GRch38": { "90": { "location": "3:81489699-81762161", "ensembl_id": "ENSG00000114480" } } }, "hgnc_date_symbol_changed": "1993-06-21" }, "entity_type": "gene", "entity_name": "GBE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8613547" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:321", "gene_name": "amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase", "omim_gene": [ "610860" ], "alias_name": [ "glycogen debranching enzyme", "glycogen storage disease type III" ], "gene_symbol": "AGL", "hgnc_symbol": "AGL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:100315640-100389579", "ensembl_id": "ENSG00000162688" } }, "GRch38": { "90": { "location": "1:99850084-99924023", "ensembl_id": "ENSG00000162688" } } }, "hgnc_date_symbol_changed": "1992-07-29" }, "entity_type": "gene", "entity_name": "AGL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease IIIa and IIIb, MIM# 232400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GAS", "GALNAC6S" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4122", "gene_name": "galactosamine (N-acetyl)-6-sulfatase", "omim_gene": [ "612222" ], "alias_name": [ "Morquio syndrome", "mucopolysaccharidosis type IVA" ], "gene_symbol": "GALNS", "hgnc_symbol": "GALNS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:88880142-88923378", "ensembl_id": "ENSG00000141012" } }, "GRch38": { "90": { "location": "16:88813734-88856970", "ensembl_id": "ENSG00000141012" } } }, "hgnc_date_symbol_changed": "1992-02-21" }, "entity_type": "gene", "entity_name": "GALNS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33082562", "23137060" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mucopolysaccharidosis IVA, MIM#\t253000" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 116, "hash_id": null, "name": "Hydrops fetalis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.", "status": "public", "version": "0.328", "version_created": "2025-07-08T23:27:02.854141+10:00", "relevant_disorders": [ "Hydrops fetalis", "HP:0001789" ], "stats": { "number_of_genes": 169, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0862", "SOC2", "SUR-8", "SOC-2", "SUR8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15454", "gene_name": "SHOC2, leucine rich repeat scaffold protein", "omim_gene": [ "602775" ], "alias_name": null, "gene_symbol": "SHOC2", "hgnc_symbol": "SHOC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:112679301-112773425", "ensembl_id": "ENSG00000108061" } }, "GRch38": { "90": { "location": "10:110919547-111013667", "ensembl_id": "ENSG00000108061" } } }, "hgnc_date_symbol_changed": "2001-03-30" }, "entity_type": "gene", "entity_name": "SHOC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24458587", "33082562", "33027564" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Noonan syndrome-like with loose anagen hair 1, MIM: #607721" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 116, "hash_id": null, "name": "Hydrops fetalis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.", "status": "public", "version": "0.328", "version_created": "2025-07-08T23:27:02.854141+10:00", "relevant_disorders": [ "Hydrops fetalis", "HP:0001789" ], "stats": { "number_of_genes": 169, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3579", "gene_name": "fumarylacetoacetate hydrolase", "omim_gene": [ "613871" ], "alias_name": [ "fumarylacetoacetase" ], "gene_symbol": "FAH", "hgnc_symbol": "FAH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:80444832-80479288", "ensembl_id": "ENSG00000103876" } }, "GRch38": { "90": { "location": "15:80152490-80186946", "ensembl_id": "ENSG00000103876" } } }, "hgnc_date_symbol_changed": "1989-06-07" }, "entity_type": "gene", "entity_name": "FAH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 15877201" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Tyrosinemia type I MONDO:0010161" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 118, "hash_id": null, "name": "Hyperinsulinism", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing", "status": "public", "version": "1.51", "version_created": "2026-03-09T16:58:00.909830+11:00", "relevant_disorders": [ "Hyperinsulinaemia", "HP:0000842;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 35, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ICHYN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28018", "gene_name": "NIPA like domain containing 4", "omim_gene": [ "609383" ], "alias_name": [ "ichthyin" ], "gene_symbol": "NIPAL4", "hgnc_symbol": "NIPAL4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:156887027-156901725", "ensembl_id": "ENSG00000172548" } }, "GRch38": { "90": { "location": "5:157460019-157474717", "ensembl_id": "ENSG00000172548" } } }, "hgnc_date_symbol_changed": "2009-03-24" }, "entity_type": "gene", "entity_name": "NIPAL4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17557927" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ichthyosis, congenital, autosomal recessive 6, MIM# 612281" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 124, "hash_id": null, "name": "Ichthyosis and Porokeratosis", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.", "status": "public", "version": "1.25", "version_created": "2026-03-19T12:26:58.874178+11:00", "relevant_disorders": [ "Ichthyosis", "HP:0008064;Porokeratosis", "HP:0200044" ], "stats": { "number_of_genes": 65, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ34884" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25118", "gene_name": "OTU deubiquitinase with linear linkage specificity", "omim_gene": [ "615712" ], "alias_name": [ "gumby" ], "gene_symbol": "OTULIN", "hgnc_symbol": "OTULIN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:14664773-14699820", "ensembl_id": "ENSG00000154124" } }, "GRch38": { "90": { "location": "5:14664664-14699711", "ensembl_id": "ENSG00000154124" } } }, "hgnc_date_symbol_changed": "2014-03-11" }, "entity_type": "gene", "entity_name": "OTULIN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27523608", "27559085" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Autoinflammation, panniculitis, and dermatosis syndrome, MIM#\t617099" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 130, "hash_id": null, "name": "Lipodystrophy_Lipoatrophy", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.", "status": "public", "version": "1.42", "version_created": "2026-02-17T18:29:33.924527+11:00", "relevant_disorders": [ "Lipodystrophy", "HP:0009125" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11301", "gene_name": "signal recognition particle 54", "omim_gene": [ "604857" ], "alias_name": null, "gene_symbol": "SRP54", "hgnc_symbol": "SRP54", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:35451163-35498773", "ensembl_id": "ENSG00000100883" } }, "GRch38": { "90": { "location": "14:34981957-35029567", "ensembl_id": "ENSG00000100883" } } }, "hgnc_date_symbol_changed": "1991-12-05" }, "entity_type": "gene", "entity_name": "SRP54", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29914977", "28972538" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TDPGD", "SDR2E1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20324", "gene_name": "TDP-glucose 4,6-dehydratase", "omim_gene": [ "616146" ], "alias_name": [ "short chain dehydrogenase/reductase family 2E, member 1" ], "gene_symbol": "TGDS", "hgnc_symbol": "TGDS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:95226308-95248511", "ensembl_id": "ENSG00000088451" } }, "GRch38": { "90": { "location": "13:94574051-94596257", "ensembl_id": "ENSG00000088451" } } }, "hgnc_date_symbol_changed": "2003-04-10" }, "entity_type": "gene", "entity_name": "TGDS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25480037" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Catel-Manzke syndrome, MIM# 616145" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NTPH", "FLJ37295" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20692", "gene_name": "tryptophan hydroxylase 2", "omim_gene": [ "607478" ], "alias_name": [ "tryptophan 5-monooxygenase" ], "gene_symbol": "TPH2", "hgnc_symbol": "TPH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:72332626-72580398", "ensembl_id": "ENSG00000139287" } }, "GRch38": { "90": { "location": "12:71938846-72186618", "ensembl_id": "ENSG00000139287" } } }, "hgnc_date_symbol_changed": "2003-04-03" }, "entity_type": "gene", "entity_name": "TPH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18347598" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0703", "SPCA2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29103", "gene_name": "ATPase secretory pathway Ca2+ transporting 2", "omim_gene": [ "613082" ], "alias_name": [ "secretory pathway calcium ATPase 2" ], "gene_symbol": "ATP2C2", "hgnc_symbol": "ATP2C2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:84402133-84497793", "ensembl_id": "ENSG00000064270" } }, "GRch38": { "90": { "location": "16:84368527-84464187", "ensembl_id": "ENSG00000064270" } } }, "hgnc_date_symbol_changed": "2006-10-20" }, "entity_type": "gene", "entity_name": "ATP2C2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33864365", "28440294" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "language impairment, HP:0002463" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32779" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26535", "gene_name": "chromosome 9 open reading frame 84", "omim_gene": null, "alias_name": null, "gene_symbol": "C9orf84", "hgnc_symbol": "C9orf84", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:114448453-114557288", "ensembl_id": "ENSG00000165181" } }, "GRch38": { "90": { "location": "9:111686173-111795008", "ensembl_id": "ENSG00000165181" } } }, "hgnc_date_symbol_changed": "2004-01-29" }, "entity_type": "gene", "entity_name": "C9orf84", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32741963", "32900840", "35485979" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 75, MIM#\t619949" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ALK3", "CD292" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1076", "gene_name": "bone morphogenetic protein receptor type 1A", "omim_gene": [ "601299" ], "alias_name": null, "gene_symbol": "BMPR1A", "hgnc_symbol": "BMPR1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:88516407-88692595", "ensembl_id": "ENSG00000107779" } }, "GRch38": { "90": { "location": "10:86756601-86932838", "ensembl_id": "ENSG00000107779" } } }, "hgnc_date_symbol_changed": "1994-12-12" }, "entity_type": "gene", "entity_name": "BMPR1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11381269" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "BMPR1A-related juvenile polyposis syndrome MONDO:0700348" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:44426", "gene_name": "APOC4-APOC2 readthrough (NMD candidate)", "omim_gene": null, "alias_name": null, "gene_symbol": "APOC4-APOC2", "hgnc_symbol": "APOC4-APOC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:45445495-45452822", "ensembl_id": "ENSG00000224916" } }, "GRch38": { "90": { "location": "19:44942238-44949565", "ensembl_id": "ENSG00000224916" } } }, "hgnc_date_symbol_changed": "2013-05-14" }, "entity_type": "gene", "entity_name": "APOC4-APOC2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PMID: 31034468" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ATPIG", "ATPIQ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13554", "gene_name": "ATPase phospholipid transporting 11C", "omim_gene": [ "300516" ], "alias_name": null, "gene_symbol": "ATP11C", "hgnc_symbol": "ATP11C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:138808505-139027435", "ensembl_id": "ENSG00000101974" } }, "GRch38": { "90": { "location": "X:139726346-139945276", "ensembl_id": "ENSG00000101974" } } }, "hgnc_date_symbol_changed": "2000-09-25" }, "entity_type": "gene", "entity_name": "ATP11C", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41523080", "40869043", "37892263", "37671681", "26944472", "37314652" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Hemolytic anemia, congenital, X-linked MIM#301015" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3519", "gene_name": "EYA transcriptional coactivator and phosphatase 1", "omim_gene": [ "601653" ], "alias_name": null, "gene_symbol": "EYA1", "hgnc_symbol": "EYA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:72109668-72274467", "ensembl_id": "ENSG00000104313" } }, "GRch38": { "90": { "location": "8:71197433-71362232", "ensembl_id": "ENSG00000104313" } } }, "hgnc_date_symbol_changed": "1996-12-12" }, "entity_type": "gene", "entity_name": "EYA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9359046", "13269867" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Anterior segment anomalies with or without cataract MIM#602588", "Branchiootic syndrome 1 MIM#602588", "Branchiootorenal syndrome 1, with or without cataracts MIM#113650" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AMF", "NLK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4458", "gene_name": "glucose-6-phosphate isomerase", "omim_gene": [ "172400" ], "alias_name": null, "gene_symbol": "GPI", "hgnc_symbol": "GPI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:34850385-34893061", "ensembl_id": "ENSG00000105220" } }, "GRch38": { "90": { "location": "19:34359480-34402156", "ensembl_id": "ENSG00000105220" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GPI", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hCG_1645727", "NEM6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:37227", "gene_name": "kelch repeat and BTB domain containing 13", "omim_gene": [ "613727" ], "alias_name": [ "nemaline myopathy type 6" ], "gene_symbol": "KBTBD13", "hgnc_symbol": "KBTBD13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:65369154-65372276", "ensembl_id": "ENSG00000234438" } }, "GRch38": { "90": { "location": "15:65076816-65078192", "ensembl_id": "ENSG00000234438" } } }, "hgnc_date_symbol_changed": "2010-01-25" }, "entity_type": "gene", "entity_name": "KBTBD13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28403181", "31167812", "31671076", "30208948", "11731279", "21104864" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nemaline myopathy 6, autosomal dominant, MIM# 609273", "Hereditary motor neuropathy", "late-onset limb girdle muscular dystrophy" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KRT5A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6442", "gene_name": "keratin 5", "omim_gene": [ "148040" ], "alias_name": null, "gene_symbol": "KRT5", "hgnc_symbol": "KRT5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52908359-52914471", "ensembl_id": "ENSG00000186081" } }, "GRch38": { "90": { "location": "12:52514575-52520687", "ensembl_id": "ENSG00000186081" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "KRT5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa MONDO:0006541, KRT5-related", "Dowling-Degos disease 1, MIM# 179850", "Epidermolysis bullosa simplex-MCR, MIM# 609352", "Epidermolysis bullosa simplex-MP 131960", "Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760", "Epidermolysis bullosa simplex, Koebner type, MIM# 131900", "Epidermolysis bullosa simplex, recessive 1, MIM# 601001", "Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MST", "TST2", "TUM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7223", "gene_name": "mercaptopyruvate sulfurtransferase", "omim_gene": [ "602496" ], "alias_name": [ "human liver rhodanese", "tRNA thiouridin modification protein 1" ], "gene_symbol": "MPST", "hgnc_symbol": "MPST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:37415676-37425863", "ensembl_id": "ENSG00000128309" } }, "GRch38": { "90": { "location": "22:37019635-37029822", "ensembl_id": "ENSG00000128309" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "MPST", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARE1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10518", "gene_name": "VPS52, GARP complex subunit", "omim_gene": [ "603443" ], "alias_name": null, "gene_symbol": "VPS52", "hgnc_symbol": "VPS52", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33218049-33239824", "ensembl_id": "ENSG00000223501" } }, "GRch38": { "90": { "location": "6:33250272-33272047", "ensembl_id": "ENSG00000223501" } } }, "hgnc_date_symbol_changed": "2003-09-05" }, "entity_type": "gene", "entity_name": "VPS52", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Amber", "Other" ], "phenotypes": [ "complex neurodevelopmental disorder with or without congenital anomalies MONDO:0100465" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:23066", "gene_name": "trafficking protein particle complex 6B", "omim_gene": [ "610397" ], "alias_name": null, "gene_symbol": "TRAPPC6B", "hgnc_symbol": "TRAPPC6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:39617015-39639736", "ensembl_id": "ENSG00000182400" } }, "GRch38": { "90": { "location": "14:39147811-39170532", "ensembl_id": "ENSG00000182400" } } }, "hgnc_date_symbol_changed": "2003-09-01" }, "entity_type": "gene", "entity_name": "TRAPPC6B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28626029", "28397838", "31687267" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862" ], "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": [ "ITBA2", "CVG5", "DXS9951E", "DXS9879E", "ESO3", "Pcc1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26058", "gene_name": "L antigen family member 3", "omim_gene": [ "300060" ], "alias_name": [ "DNA segment on chromosome X (unique) 9879 expressed sequence" ], "gene_symbol": "LAGE3", "hgnc_symbol": "LAGE3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153706028-153707596", "ensembl_id": "ENSG00000196976" } }, "GRch38": { "90": { "location": "X:154477769-154479257", "ensembl_id": "ENSG00000196976" } } }, "hgnc_date_symbol_changed": "2006-07-04" }, "entity_type": "gene", "entity_name": "LAGE3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28805828" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Galloway-Mowat syndrome 2, X-linked, MIM# 301006" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "ADCAD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6698", "gene_name": "LDL receptor related protein 6", "omim_gene": [ "603507" ], "alias_name": null, "gene_symbol": "LRP6", "hgnc_symbol": "LRP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:12268959-12419946", "ensembl_id": "ENSG00000070018" } }, "GRch38": { "90": { "location": "12:12116025-12267012", "ensembl_id": "ENSG00000070018" } } }, "hgnc_date_symbol_changed": "1998-04-07" }, "entity_type": "gene", "entity_name": "LRP6", "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": 148, "hash_id": null, "name": "Oligodontia", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.33", "version_created": "2026-02-21T15:35:59.668194+11:00", "relevant_disorders": [ "Abnormal number of teeth HP:0006483" ], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp313G1735", "TSULF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25239", "gene_name": "arylsulfatase family member K", "omim_gene": [ "610011" ], "alias_name": null, "gene_symbol": "ARSK", "hgnc_symbol": "ARSK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:94890778-94940768", "ensembl_id": "ENSG00000164291" } }, "GRch38": { "90": { "location": "5:95555074-95605064", "ensembl_id": "ENSG00000164291" } } }, "hgnc_date_symbol_changed": "2006-02-09" }, "entity_type": "gene", "entity_name": "ARSK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34916232", "32856704" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mucopolysaccharidosis MONDO:0019249, ARSK-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 181, "hash_id": null, "name": "Lysosomal Storage Disorder", "disease_group": "Metabolic conditions", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.", "status": "public", "version": "1.31", "version_created": "2026-03-31T16:05:25.488597+11:00", "relevant_disorders": [ "Lysosomal storage disorder", "MONDO:0002561; Visceromegaly", "HP:0003271" ], "stats": { "number_of_genes": 80, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SDR9C3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5209", "gene_name": "hydroxysteroid 11-beta dehydrogenase 2", "omim_gene": [ "614232" ], "alias_name": [ "short chain dehydrogenase/reductase family 9C, member 3" ], "gene_symbol": "HSD11B2", "hgnc_symbol": "HSD11B2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67464555-67471456", "ensembl_id": "ENSG00000176387" } }, "GRch38": { "90": { "location": "16:67430652-67437553", "ensembl_id": "ENSG00000176387" } } }, "hgnc_date_symbol_changed": "1994-11-18" }, "entity_type": "gene", "entity_name": "HSD11B2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7670488", "9683587", "17314322" ], "evidence": [ "Expert Review Green", "KidGen_AldoHypertension v38.1.0" ], "phenotypes": [ "Apparent mineralocorticoid excess, MIM# 218030", "MONDO:0009025" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 190, "hash_id": null, "name": "Hypertension and Aldosterone disorders", "disease_group": "Renal and urinary tract disorders; Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hypertension and aldosterone disorders. \r\n\r\nThis panel was created and is maintained by the KidGen Collaborative. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Extreme early-onset hypertension' panel V1.23, with all discrepancies reviewed and resolved (January 2026).", "status": "public", "version": "1.18", "version_created": "2026-01-08T17:00:09.030229+11:00", "relevant_disorders": [ "Hypertension", "HP:0000822; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 24, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1171", "TLDC6", "DFNA65" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29203", "gene_name": "TBC1 domain family member 24", "omim_gene": [ "613577" ], "alias_name": [ "TBC/LysM-associated domain containing 6", "skywalker homolog (Drosophila)" ], "gene_symbol": "TBC1D24", "hgnc_symbol": "TBC1D24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:2525147-2555735", "ensembl_id": "ENSG00000162065" } }, "GRch38": { "90": { "location": "16:2475051-2509560", "ensembl_id": "ENSG00000162065" } } }, "hgnc_date_symbol_changed": "2006-04-07" }, "entity_type": "gene", "entity_name": "TBC1D24", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Developmental and epileptic encephalopathy 16 MIM#615338", "DOORS syndrome MIM#220500", "Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105", "Myoclonic epilepsy, infantile, familial MIM#605021" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 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": [ "SMAP-5", "FinGER5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24877", "gene_name": "Yip1 domain family member 5", "omim_gene": [ "611483" ], "alias_name": null, "gene_symbol": "YIPF5", "hgnc_symbol": "YIPF5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:143537723-143550278", "ensembl_id": "ENSG00000145817" } }, "GRch38": { "90": { "location": "5:144158159-144170714", "ensembl_id": "ENSG00000145817" } } }, "hgnc_date_symbol_changed": "2005-07-04" }, "entity_type": "gene", "entity_name": "YIPF5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33164986" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278" ], "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": [ "MBP-2", "HIV-EP2", "MIBP1", "ZAS2", "Schnurri-2", "ZNF40B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4921", "gene_name": "human immunodeficiency virus type I enhancer binding protein 2", "omim_gene": [ "143054" ], "alias_name": [ "c-myc intron binding protein 1" ], "gene_symbol": "HIVEP2", "hgnc_symbol": "HIVEP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:143072604-143266338", "ensembl_id": "ENSG00000010818" } }, "GRch38": { "90": { "location": "6:142751467-142956698", "ensembl_id": "ENSG00000010818" } } }, "hgnc_date_symbol_changed": "1992-10-21" }, "entity_type": "gene", "entity_name": "HIVEP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27003583" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 43, MIM#\t616977" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:652", "gene_name": "ADP ribosylation factor 1", "omim_gene": [ "103180" ], "alias_name": null, "gene_symbol": "ARF1", "hgnc_symbol": "ARF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:228270361-228286912", "ensembl_id": "ENSG00000143761" } }, "GRch38": { "90": { "location": "1:228082660-228099212", "ensembl_id": "ENSG00000143761" } } }, "hgnc_date_symbol_changed": "1992-07-09" }, "entity_type": "gene", "entity_name": "ARF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28868155", "34353862" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Periventricular nodular heterotopia 8, MIM# 618185" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2555", "gene_name": "cullin 4B", "omim_gene": [ "300304" ], "alias_name": null, "gene_symbol": "CUL4B", "hgnc_symbol": "CUL4B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:119658464-119709649", "ensembl_id": "ENSG00000158290" } }, "GRch38": { "90": { "location": "X:120524609-120575794", "ensembl_id": "ENSG00000158290" } } }, "hgnc_date_symbol_changed": "1998-10-29" }, "entity_type": "gene", "entity_name": "CUL4B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22182342", "17236139" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "trnY" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7502", "gene_name": "mitochondrially encoded tRNA tyrosine", "omim_gene": [ "590100" ], "alias_name": null, "gene_symbol": "MT-TY", "hgnc_symbol": "MT-TY", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:5826-5891", "ensembl_id": "ENSG00000210144" } }, "GRch38": { "90": { "location": "MT:5826-5891", "ensembl_id": "ENSG00000210144" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TY", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11071502", "11756614", "11594340", "33279411", "30643656", "32684384", "32485333", "33279411" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TY-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "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": [ "MGC14833", "bA6B20.2", "M19", "Cbp6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21237", "gene_name": "ubiquinol-cytochrome c reductase complex assembly factor 2", "omim_gene": [ "614461" ], "alias_name": [ "cytochrome B protein synthesis 6 homolog (S. cerevisiae)" ], "gene_symbol": "UQCC2", "hgnc_symbol": "UQCC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33662070-33679504", "ensembl_id": "ENSG00000137288" } }, "GRch38": { "90": { "location": "6:33694293-33711727", "ensembl_id": "ENSG00000137288" } } }, "hgnc_date_symbol_changed": "2013-09-20" }, "entity_type": "gene", "entity_name": "UQCC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24385928", "28804536" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MKP-3", "PYST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3072", "gene_name": "dual specificity phosphatase 6", "omim_gene": [ "602748" ], "alias_name": null, "gene_symbol": "DUSP6", "hgnc_symbol": "DUSP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:89741009-89747048", "ensembl_id": "ENSG00000139318" } }, "GRch38": { "90": { "location": "12:89347232-89353271", "ensembl_id": "ENSG00000139318" } } }, "hgnc_date_symbol_changed": "1997-03-19" }, "entity_type": "gene", "entity_name": "DUSP6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32389901", "23643382" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARSACS", "KIAA0730", "DKFZp686B15167", "DNAJC29", "SPAX6", "PPP1R138" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10519", "gene_name": "sacsin molecular chaperone", "omim_gene": [ "604490" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 138" ], "gene_symbol": "SACS", "hgnc_symbol": "SACS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:23902965-24007841", "ensembl_id": "ENSG00000151835" } }, "GRch38": { "90": { "location": "13:23328826-23411513", "ensembl_id": "ENSG00000151835" } } }, "hgnc_date_symbol_changed": "1999-11-19" }, "entity_type": "gene", "entity_name": "SACS", "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": [ "GPSN2L", "SRD5A2L2", "DKFZp313D0829", "DKFZp313B2333", "TERL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27365", "gene_name": "trans-2,3-enoyl-CoA reductase like", "omim_gene": [ "617242" ], "alias_name": [ "glycoprotein, synaptic 2-like" ], "gene_symbol": "TECRL", "hgnc_symbol": "TECRL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:65140975-65275186", "ensembl_id": "ENSG00000205678" } }, "GRch38": { "90": { "location": "4:64275257-64409468", "ensembl_id": "ENSG00000205678" } } }, "hgnc_date_symbol_changed": "2009-07-21" }, "entity_type": "gene", "entity_name": "TECRL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 221, "hash_id": null, "name": "Additional findings_Adult", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.", "status": "public", "version": "2.0", "version_created": "2026-03-16T10:56:03.168206+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 136, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Cav1.1", "hypoPP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1397", "gene_name": "calcium voltage-gated channel subunit alpha1 S", "omim_gene": [ "114208" ], "alias_name": null, "gene_symbol": "CACNA1S", "hgnc_symbol": "CACNA1S", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:201008642-201081694", "ensembl_id": "ENSG00000081248" } }, "GRch38": { "90": { "location": "1:201039512-201112566", "ensembl_id": "ENSG00000081248" } } }, "hgnc_date_symbol_changed": "1992-03-27" }, "entity_type": "gene", "entity_name": "CACNA1S", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance" ], "phenotypes": [ "Malignant hyperthermia susceptibility 5, MIM# 601887" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 221, "hash_id": null, "name": "Additional findings_Adult", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.", "status": "public", "version": "2.0", "version_created": "2026-03-16T10:56:03.168206+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 136, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9832", "gene_name": "recombination activating 2", "omim_gene": [ "179616" ], "alias_name": null, "gene_symbol": "RAG2", "hgnc_symbol": "RAG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:36597124-36619829", "ensembl_id": "ENSG00000175097" } }, "GRch38": { "90": { "location": "11:36575574-36598279", "ensembl_id": "ENSG00000175097" } } }, "hgnc_date_symbol_changed": "1990-08-15" }, "entity_type": "gene", "entity_name": "RAG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9630231", "11313270", "31885011", "8810255", "15025726", "18463379" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Recombinase activating gene 2 deficiency MONDO:0000573" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 223, "hash_id": null, "name": "Combined Immunodeficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.", "status": "public", "version": "1.145", "version_created": "2026-03-02T21:55:19.238904+11:00", "relevant_disorders": [ "Combined immunodeficiency", "MONDO:0015131; Combined immunodeficiency", "HP:0005387" ], "stats": { "number_of_genes": 170, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dJ553F4.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15992", "gene_name": "zinc finger protein 341", "omim_gene": null, "alias_name": null, "gene_symbol": "ZNF341", "hgnc_symbol": "ZNF341", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:32319463-32380075", "ensembl_id": "ENSG00000131061" } }, "GRch38": { "90": { "location": "20:33731657-33792269", "ensembl_id": "ENSG00000131061" } } }, "hgnc_date_symbol_changed": "2001-09-17" }, "entity_type": "gene", "entity_name": "ZNF341", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29907691", "29907690" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM#\t618282", "Mild facial dysmorphism", "Early onset eczema", "Recurrent bacterial skin infections, abscesses", "Recurrent respiratory infections, lung abscesses and pneumothoraces", "Hyperextensible joints, bone fractures, retention of primary teeth" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 223, "hash_id": null, "name": "Combined Immunodeficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.", "status": "public", "version": "1.145", "version_created": "2026-03-02T21:55:19.238904+11:00", "relevant_disorders": [ "Combined immunodeficiency", "MONDO:0015131; Combined immunodeficiency", "HP:0005387" ], "stats": { "number_of_genes": 170, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NY-REN-64" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17967", "gene_name": "interleukin 1 receptor associated kinase 4", "omim_gene": [ "606883" ], "alias_name": null, "gene_symbol": "IRAK4", "hgnc_symbol": "IRAK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:44152747-44183346", "ensembl_id": "ENSG00000198001" } }, "GRch38": { "90": { "location": "12:43758944-43789543", "ensembl_id": "ENSG00000198001" } } }, "hgnc_date_symbol_changed": "2002-09-27" }, "entity_type": "gene", "entity_name": "IRAK4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37744344" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoinflammatory syndrome, MONDO:0019751, IRAK4-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DAN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8609", "gene_name": "poly(A)-specific ribonuclease", "omim_gene": [ "604212" ], "alias_name": [ "deadenylation nuclease" ], "gene_symbol": "PARN", "hgnc_symbol": "PARN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:14529558-14726585", "ensembl_id": "ENSG00000140694" } }, "GRch38": { "90": { "location": "16:14435701-14632728", "ensembl_id": "ENSG00000140694" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "PARN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25893599", "26342108" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Dyskeratosis congenita, autosomal recessive 6, MIM# 616353" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1076", "Set1B", "KMT2G" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29187", "gene_name": "SET domain containing 1B", "omim_gene": [ "611055" ], "alias_name": null, "gene_symbol": "SETD1B", "hgnc_symbol": "SETD1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:122242086-122270562", "ensembl_id": "ENSG00000139718" } }, "GRch38": { "90": { "location": "12:121804180-121832584", "ensembl_id": "ENSG00000139718" } } }, "hgnc_date_symbol_changed": "2006-02-15" }, "entity_type": "gene", "entity_name": "SETD1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32546566", "29322246", "31440728", "31685013" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ35630", "FLJ41559" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26648", "gene_name": "Bardet-Biedl syndrome 12", "omim_gene": [ "610683" ], "alias_name": null, "gene_symbol": "BBS12", "hgnc_symbol": "BBS12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:123653857-123666098", "ensembl_id": "ENSG00000181004" } }, "GRch38": { "90": { "location": "4:122732702-122744943", "ensembl_id": "ENSG00000181004" } } }, "hgnc_date_symbol_changed": "2006-12-13" }, "entity_type": "gene", "entity_name": "BBS12", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review Red", "Expert list", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 12, 615989" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ13352", "SRD5A2L", "SRD5A2L1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25812", "gene_name": "steroid 5 alpha-reductase 3", "omim_gene": [ "611715" ], "alias_name": null, "gene_symbol": "SRD5A3", "hgnc_symbol": "SRD5A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:56212276-56239263", "ensembl_id": "ENSG00000128039" } }, "GRch38": { "90": { "location": "4:55346109-55373096", "ensembl_id": "ENSG00000128039" } } }, "hgnc_date_symbol_changed": "2007-11-12" }, "entity_type": "gene", "entity_name": "SRD5A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list", "Royal Melbourne Hospital" ], "phenotypes": [ "Kahrizi syndrome, 612713", "Congenital disorder of glycosylation, type Iq, 612379", "Congenital disorder of glycosylation type Iq, 612379" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8806", "gene_name": "pyruvate dehydrogenase E1 alpha 1 subunit", "omim_gene": [ "300502" ], "alias_name": [ "pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial" ], "gene_symbol": "PDHA1", "hgnc_symbol": "PDHA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:19362011-19379823", "ensembl_id": "ENSG00000131828" } }, "GRch38": { "90": { "location": "X:19343893-19361705", "ensembl_id": "ENSG00000131828" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "PDHA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20002125" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Pyruvate dehydrogenase E1-alpha deficiency MIM#312170" ], "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": 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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:799", "gene_name": "ATPase Na+/K+ transporting subunit alpha 1", "omim_gene": [ "182310" ], "alias_name": [ "sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1" ], "gene_symbol": "ATP1A1", "hgnc_symbol": "ATP1A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:116915290-116952883", "ensembl_id": "ENSG00000163399" } }, "GRch38": { "90": { "location": "1:116372668-116410261", "ensembl_id": "ENSG00000163399" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "ATP1A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29499166" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036", "MONDO:0054833" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp564K0322", "3M3", "PPP1R20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25367", "gene_name": "coiled-coil domain containing 8", "omim_gene": [ "614145" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 20" ], "gene_symbol": "CCDC8", "hgnc_symbol": "CCDC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46913629-46916841", "ensembl_id": "ENSG00000169515" } }, "GRch38": { "90": { "location": "19:46410372-46413584", "ensembl_id": "ENSG00000169515" } } }, "hgnc_date_symbol_changed": "2004-02-11" }, "entity_type": "gene", "entity_name": "CCDC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "3-M syndrome 3, 614205 (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": [ "FLJ25530", "hepaCAM", "GLIALCAM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26361", "gene_name": "hepatic and glial cell adhesion molecule", "omim_gene": [ "611642" ], "alias_name": [ "glial cell adhesion molecule" ], "gene_symbol": "HEPACAM", "hgnc_symbol": "HEPACAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:124789089-124806308", "ensembl_id": "ENSG00000165478" } }, "GRch38": { "90": { "location": "11:124919193-124936412", "ensembl_id": "ENSG00000165478" } } }, "hgnc_date_symbol_changed": "2007-01-22" }, "entity_type": "gene", "entity_name": "HEPACAM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (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": [ "YY1AP", "HCCA2", "YAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30935", "gene_name": "YY1 associated protein 1", "omim_gene": [ "607860" ], "alias_name": null, "gene_symbol": "YY1AP1", "hgnc_symbol": "YY1AP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155629237-155658791", "ensembl_id": "ENSG00000163374" } }, "GRch38": { "90": { "location": "1:155659443-155689000", "ensembl_id": "ENSG00000163374" } } }, "hgnc_date_symbol_changed": "2005-02-09" }, "entity_type": "gene", "entity_name": "YY1AP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Genomics England PanelApp", "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Grange syndrome, 602531" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3144, "hash_id": null, "name": "Cerebral vascular malformations", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.", "status": "public", "version": "1.12", "version_created": "2026-01-22T10:52:30.127872+11:00", "relevant_disorders": [ "Abnormal cerebral vascular morphology HP:0100659" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5461", "gene_name": "immunoglobulin binding protein 1", "omim_gene": [ "300139" ], "alias_name": [ "alpha 4" ], "gene_symbol": "IGBP1", "hgnc_symbol": "IGBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:69353299-69386174", "ensembl_id": "ENSG00000089289" } }, "GRch38": { "90": { "location": "X:70133449-70166324", "ensembl_id": "ENSG00000089289" } } }, "hgnc_date_symbol_changed": "1997-09-05" }, "entity_type": "gene", "entity_name": "IGBP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Nav1.9", "NaN", "SNS-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10583", "gene_name": "sodium voltage-gated channel alpha subunit 11", "omim_gene": [ "604385" ], "alias_name": null, "gene_symbol": "SCN11A", "hgnc_symbol": "SCN11A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:38887260-38992052", "ensembl_id": "ENSG00000168356" } }, "GRch38": { "90": { "location": "3:38845769-38950561", "ensembl_id": "ENSG00000168356" } } }, "hgnc_date_symbol_changed": "1998-11-06" }, "entity_type": "gene", "entity_name": "SCN11A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Episodic pain 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": [ "CX32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4283", "gene_name": "gap junction protein beta 1", "omim_gene": [ "304040" ], "alias_name": [ "Charcot-Marie-Tooth neuropathy, X-linked", "connexin 32" ], "gene_symbol": "GJB1", "hgnc_symbol": "GJB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:70435044-70445366", "ensembl_id": "ENSG00000169562" } }, "GRch38": { "90": { "location": "X:71215194-71225516", "ensembl_id": "ENSG00000169562" } } }, "hgnc_date_symbol_changed": "1990-02-12" }, "entity_type": "gene", "entity_name": "GJB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Charcot-Marie-Tooth neuropathy" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CILD6", "SPTRX2", "NM23-H8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16473", "gene_name": "NME/NM23 family member 8", "omim_gene": [ "607421" ], "alias_name": [ "sperm-specific thioredoxin 2" ], "gene_symbol": "NME8", "hgnc_symbol": "NME8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:37888199-37940003", "ensembl_id": "ENSG00000086288" } }, "GRch38": { "90": { "location": "7:37848597-37900401", "ensembl_id": "ENSG00000086288" } } }, "hgnc_date_symbol_changed": "2012-05-18" }, "entity_type": "gene", "entity_name": "NME8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Ciliary dyskinesia, primary" ], "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": [ "CL-L1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2220", "gene_name": "collectin subfamily member 10", "omim_gene": [ "607620" ], "alias_name": null, "gene_symbol": "COLEC10", "hgnc_symbol": "COLEC10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:120007691-120118821", "ensembl_id": "ENSG00000184374" } }, "GRch38": { "90": { "location": "8:118995452-119106582", "ensembl_id": "ENSG00000184374" } } }, "hgnc_date_symbol_changed": "2000-04-11" }, "entity_type": "gene", "entity_name": "COLEC10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21258343" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "3MC SYNDROME 3", "3MC3" ], "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": [ "cybS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10683", "gene_name": "succinate dehydrogenase complex subunit D", "omim_gene": [ "602690" ], "alias_name": [ "small subunit of cytochrome b" ], "gene_symbol": "SDHD", "hgnc_symbol": "SDHD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:111957497-111990353", "ensembl_id": "ENSG00000204370" } }, "GRch38": { "90": { "location": "11:112086773-112120013", "ensembl_id": "ENSG00000204370" } } }, "hgnc_date_symbol_changed": "1997-10-21" }, "entity_type": "gene", "entity_name": "SDHD", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "NSW Health Pathology" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3437, "hash_id": null, "name": "Incidentalome_PREGEN_DRAFT", "disease_group": "", "disease_sub_group": "", "description": "Imported to facilitate update work. Do not use while labeled as DRAFT", "status": "public", "version": "0.43", "version_created": "2021-01-20T16:42:09.286633+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 173, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1069", "gene_name": "bone morphogenetic protein 2", "omim_gene": [ "112261" ], "alias_name": null, "gene_symbol": "BMP2", "hgnc_symbol": "BMP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:6748311-6760927", "ensembl_id": "ENSG00000125845" } }, "GRch38": { "90": { "location": "20:6767664-6780280", "ensembl_id": "ENSG00000125845" } } }, "hgnc_date_symbol_changed": "1990-06-11" }, "entity_type": "gene", "entity_name": "BMP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "Brachydactyly, type A2 112600", "short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877." ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3729, "hash_id": null, "name": "Hand and foot malformations", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.", "status": "public", "version": "0.89", "version_created": "2026-04-07T13:49:34.993963+10:00", "relevant_disorders": [ "Abnormal hand morphology", "HP:0005922; Abnormal foot morphology", "HP:0001760" ], "stats": { "number_of_genes": 101, "number_of_strs": 1, "number_of_regions": 5 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:17939", "gene_name": "solute carrier family 45 member 1", "omim_gene": [ "605763" ], "alias_name": [ "H+/sugar symporter" ], "gene_symbol": "SLC45A1", "hgnc_symbol": "SLC45A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:8377886-8404227", "ensembl_id": "ENSG00000162426" } }, "GRch38": { "90": { "location": "1:8317826-8344167", "ensembl_id": "ENSG00000162426" } } }, "hgnc_date_symbol_changed": "2005-10-04" }, "entity_type": "gene", "entity_name": "SLC45A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28434495" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Intellectual developmental disorder with neuropsychiatric features, MIM# 617532" ], "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": [ "VBCH", "DAND6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13771", "gene_name": "sclerostin", "omim_gene": [ "605740" ], "alias_name": null, "gene_symbol": "SOST", "hgnc_symbol": "SOST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:41831099-41836156", "ensembl_id": "ENSG00000167941" } }, "GRch38": { "90": { "location": "17:43753731-43758788", "ensembl_id": "ENSG00000167941" } } }, "hgnc_date_symbol_changed": "2002-02-20" }, "entity_type": "gene", "entity_name": "SOST", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Sclerosteosis 1, OMIM#269500", "Craniodiaphyseal dysplasia, OMIM#122860" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "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": [ "JBTS14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14432", "gene_name": "transmembrane protein 237", "omim_gene": [ "614423" ], "alias_name": null, "gene_symbol": "TMEM237", "hgnc_symbol": "TMEM237", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:202484907-202508293", "ensembl_id": "ENSG00000155755" } }, "GRch38": { "90": { "location": "2:201620184-201643570", "ensembl_id": "ENSG00000155755" } } }, "hgnc_date_symbol_changed": "2011-05-20" }, "entity_type": "gene", "entity_name": "TMEM237", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22152675" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 14, MIM# 614424" ], "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": [ "P450RAI-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20581", "gene_name": "cytochrome P450 family 26 subfamily B member 1", "omim_gene": [ "605207" ], "alias_name": null, "gene_symbol": "CYP26B1", "hgnc_symbol": "CYP26B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:72356367-72375167", "ensembl_id": "ENSG00000003137" } }, "GRch38": { "90": { "location": "2:72129238-72148038", "ensembl_id": "ENSG00000003137" } } }, "hgnc_date_symbol_changed": "2004-01-26" }, "entity_type": "gene", "entity_name": "CYP26B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27410456", "22019272" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416" ], "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": [ "Gem" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17493", "gene_name": "geminin, DNA replication inhibitor", "omim_gene": [ "602842" ], "alias_name": null, "gene_symbol": "GMNN", "hgnc_symbol": "GMNN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:24775159-24786327", "ensembl_id": "ENSG00000112312" } }, "GRch38": { "90": { "location": "6:24774931-24786099", "ensembl_id": "ENSG00000112312" } } }, "hgnc_date_symbol_changed": "2002-08-19" }, "entity_type": "gene", "entity_name": "GMNN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26637980" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Meier-Gorlin syndrome 6, OMIM:616835", "Meier-Gorlin syndrome 6, MONDO:0014794" ], "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": [ "T54", "GPATC5", "GPATCH5", "Spp2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30677", "gene_name": "G-patch domain and KOW motifs", "omim_gene": [ "301003" ], "alias_name": [ "G patch domain containing 5" ], "gene_symbol": "GPKOW", "hgnc_symbol": "GPKOW", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48970334-48980151", "ensembl_id": "ENSG00000068394" } }, "GRch38": { "90": { "location": "X:49113389-49123801", "ensembl_id": "ENSG00000068394" } } }, "hgnc_date_symbol_changed": "2004-05-11" }, "entity_type": "gene", "entity_name": "GPKOW", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28612833", "40221893", "32426895" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "syndromic disease, MONDO:0002254, GPKOW-related" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "M-RAs", "R-RAS3", "RRAS3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7227", "gene_name": "muscle RAS oncogene homolog", "omim_gene": [ "608435" ], "alias_name": null, "gene_symbol": "MRAS", "hgnc_symbol": "MRAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:138066539-138124375", "ensembl_id": "ENSG00000158186" } }, "GRch38": { "90": { "location": "3:138347648-138405534", "ensembl_id": "ENSG00000158186" } } }, "hgnc_date_symbol_changed": "1999-09-29" }, "entity_type": "gene", "entity_name": "MRAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31108500", "28289718", "31173466" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Noonan syndrome 11, MONDO:0032786", "Noonan syndrome 11, OMIM:618499" ], "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": [ "ERAB", "MHBD", "17b-HSD10", "ABAD", "SDR5C1", "MRPP2", "CAMR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4800", "gene_name": "hydroxysteroid 17-beta dehydrogenase 10", "omim_gene": [ "300256" ], "alias_name": [ "type 10 17b-HSD", "type 10 17beta-hydroxysteroid dehydrogenase", "AB-binding alcohol dehydrogenase", "short chain dehydrogenase/reductase family 5C, member 1", "mitochondrial RNase P subunit 2" ], "gene_symbol": "HSD17B10", "hgnc_symbol": "HSD17B10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:53458206-53461320", "ensembl_id": "ENSG00000072506" } }, "GRch38": { "90": { "location": "X:53431258-53434373", "ensembl_id": "ENSG00000072506" } } }, "hgnc_date_symbol_changed": "2006-11-22" }, "entity_type": "gene", "entity_name": "HSD17B10", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "HSD10 mitochondrial disease, MIM# 300438" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6833", "gene_name": "monoamine oxidase A", "omim_gene": [ "309850" ], "alias_name": null, "gene_symbol": "MAOA", "hgnc_symbol": "MAOA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:43515467-43606068", "ensembl_id": "ENSG00000189221" } }, "GRch38": { "90": { "location": "X:43654907-43746824", "ensembl_id": "ENSG00000189221" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "MAOA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25807999", "24169519" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Brunner syndrome, MIM# 300615" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12787", "gene_name": "Wnt family member 7B", "omim_gene": [ "601967" ], "alias_name": null, "gene_symbol": "WNT7B", "hgnc_symbol": "WNT7B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:46316242-46373009", "ensembl_id": "ENSG00000188064" } }, "GRch38": { "90": { "location": "22:45920362-45977129", "ensembl_id": "ENSG00000188064" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "WNT7B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35790350" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome", "Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MPS-1", "MPS1", "S27" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10416", "gene_name": "ribosomal protein S27", "omim_gene": [ "603702" ], "alias_name": [ "metallopanstimulin 1" ], "gene_symbol": "RPS27", "hgnc_symbol": "RPS27", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:153963235-153964626", "ensembl_id": "ENSG00000177954" } }, "GRch38": { "90": { "location": "1:153990759-153992150", "ensembl_id": "ENSG00000177954" } } }, "hgnc_date_symbol_changed": "1998-06-05" }, "entity_type": "gene", "entity_name": "RPS27", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "IBMDx Study", "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diamond-Blackfan anemia 17, MIM# 617409" ], "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": [ "L27" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10328", "gene_name": "ribosomal protein L27", "omim_gene": [ "607526" ], "alias_name": [ "60S ribosomal protein L27" ], "gene_symbol": "RPL27", "hgnc_symbol": "RPL27", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:41150290-41154976", "ensembl_id": "ENSG00000131469" } }, "GRch38": { "90": { "location": "17:42998273-43002959", "ensembl_id": "ENSG00000131469" } } }, "hgnc_date_symbol_changed": "1994-05-16" }, "entity_type": "gene", "entity_name": "RPL27", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25424902" ], "evidence": [ "Expert Review Amber", "IBMDx Study", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diamond-Blackfan anemia 16, MIM# 617408" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "EFTu", "EF-TuMT", "EFTU" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12420", "gene_name": "Tu translation elongation factor, mitochondrial", "omim_gene": [ "602389" ], "alias_name": null, "gene_symbol": "TUFM", "hgnc_symbol": "TUFM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:28853732-28857729", "ensembl_id": "ENSG00000178952" } }, "GRch38": { "90": { "location": "16:28842411-28846408", "ensembl_id": "ENSG00000178952" } } }, "hgnc_date_symbol_changed": "1997-04-10" }, "entity_type": "gene", "entity_name": "TUFM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26741492", "17160893", "37433570", "30903008", "38630895" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 4, 610678 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DFFRX", "FAF", "MRX99" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12632", "gene_name": "ubiquitin specific peptidase 9, X-linked", "omim_gene": [ "300072" ], "alias_name": null, "gene_symbol": "USP9X", "hgnc_symbol": "USP9X", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:40944888-41095832", "ensembl_id": "ENSG00000124486" } }, "GRch38": { "90": { "location": "X:41085635-41236579", "ensembl_id": "ENSG00000124486" } } }, "hgnc_date_symbol_changed": "1999-02-01" }, "entity_type": "gene", "entity_name": "USP9X", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31443933", "26833328" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Intellectual developmental disorder 99 MIM#300919", "syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968" ], "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": 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": [ "XPCT", "MCT8", "MCT7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10923", "gene_name": "solute carrier family 16 member 2", "omim_gene": [ "300095" ], "alias_name": null, "gene_symbol": "SLC16A2", "hgnc_symbol": "SLC16A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:73641085-73753752", "ensembl_id": "ENSG00000147100" } }, "GRch38": { "90": { "location": "X:74421461-74533917", "ensembl_id": "ENSG00000147100" } } }, "hgnc_date_symbol_changed": "1994-04-22" }, "entity_type": "gene", "entity_name": "SLC16A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301789", "20083155", "15980113" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Allan-Herndon-Dudley syndrome, MIM #300523" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "AGM1", "DKFZP434B187", "PAGM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8907", "gene_name": "phosphoglucomutase 3", "omim_gene": [ "172100" ], "alias_name": [ "acetylglucosamine phosphomutase" ], "gene_symbol": "PGM3", "hgnc_symbol": "PGM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:83870869-83903655", "ensembl_id": "ENSG00000013375" } }, "GRch38": { "90": { "location": "6:83161150-83193936", "ensembl_id": "ENSG00000013375" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PGM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31231132", "33098103" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency 23, 615816 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4115", "gene_name": "galactosylceramidase", "omim_gene": [ "606890" ], "alias_name": [ "Krabbe disease" ], "gene_symbol": "GALC", "hgnc_symbol": "GALC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:88304164-88460009", "ensembl_id": "ENSG00000054983" } }, "GRch38": { "90": { "location": "14:87837820-87993665", "ensembl_id": "ENSG00000054983" } } }, "hgnc_date_symbol_changed": "1989-06-02" }, "entity_type": "gene", "entity_name": "GALC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20886637", "21070211", "30899093", "24252386" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Krabbe disease, MIM# 245200", "MONDO:0009499" ], "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": [ "FLJ38663", "SPG55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26784", "gene_name": "chromosome 12 open reading frame 65", "omim_gene": [ "613541" ], "alias_name": null, "gene_symbol": "C12orf65", "hgnc_symbol": "C12orf65", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:123717463-123742506", "ensembl_id": "ENSG00000130921" } }, "GRch38": { "90": { "location": "12:123232916-123257959", "ensembl_id": "ENSG00000130921" } } }, "hgnc_date_symbol_changed": "2007-02-26" }, "entity_type": "gene", "entity_name": "C12orf65", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23188110", "24080142", "24198383", "20598281", "32808965", "32478789", "28804760" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 7, MIM# 613559", "Spastic paraplegia 55, autosomal recessive, MIM#615035" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "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": [ "ATPIB", "ML-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13533", "gene_name": "ATPase phospholipid transporting 8A2", "omim_gene": [ "605870" ], "alias_name": null, "gene_symbol": "ATP8A2", "hgnc_symbol": "ATP8A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:25946209-26599989", "ensembl_id": "ENSG00000132932" } }, "GRch38": { "90": { "location": "13:25372071-26025851", "ensembl_id": "ENSG00000132932" } } }, "hgnc_date_symbol_changed": "2000-09-25" }, "entity_type": "gene", "entity_name": "ATP8A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22892528", "31612321" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268)" ], "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:3579", "gene_name": "fumarylacetoacetate hydrolase", "omim_gene": [ "613871" ], "alias_name": [ "fumarylacetoacetase" ], "gene_symbol": "FAH", "hgnc_symbol": "FAH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:80444832-80479288", "ensembl_id": "ENSG00000103876" } }, "GRch38": { "90": { "location": "15:80152490-80186946", "ensembl_id": "ENSG00000103876" } } }, "hgnc_date_symbol_changed": "1989-06-07" }, "entity_type": "gene", "entity_name": "FAH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301688", "8318997", "7550234", "7942842", "2378356", "9095403", "26829318" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "tyrosinemia type I MONDO:0010161" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ25330", "ODA7", "CILD13", "swt" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30539", "gene_name": "dynein axonemal assembly factor 1", "omim_gene": [ "613190" ], "alias_name": [ "outer row dynein assembly 7 homolog (Chlamydomonas)" ], "gene_symbol": "DNAAF1", "hgnc_symbol": "DNAAF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:84178865-84212373", "ensembl_id": "ENSG00000154099" } }, "GRch38": { "90": { "location": "16:84145287-84178767", "ensembl_id": "ENSG00000154099" } } }, "hgnc_date_symbol_changed": "2011-06-09" }, "entity_type": "gene", "entity_name": "DNAAF1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Ciliary dyskinesia, primary, 13, MIM# 613193" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "WASP", "WASPA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12731", "gene_name": "Wiskott-Aldrich syndrome", "omim_gene": [ "300392" ], "alias_name": [ "eczema-thrombocytopenia" ], "gene_symbol": "WAS", "hgnc_symbol": "WAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48534985-48549818", "ensembl_id": "ENSG00000015285" } }, "GRch38": { "90": { "location": "X:48676596-48691427", "ensembl_id": "ENSG00000015285" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "WAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301357" ], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Neutropenia, severe congenital, X-linked , MIM#300299", "Thrombocytopaenia, X-linked, MIM# 313900", "Wiskott-Aldrich syndrome, MIM# 301000" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "treatable", "haematological" ], "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": [ "MRP6", "EST349056", "MLP1", "URG7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:57", "gene_name": "ATP binding cassette subfamily C member 6", "omim_gene": [ "603234" ], "alias_name": null, "gene_symbol": "ABCC6", "hgnc_symbol": "ABCC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:16242785-16317379", "ensembl_id": "ENSG00000091262" } }, "GRch38": { "90": { "location": "16:16148928-16223522", "ensembl_id": "ENSG00000091262" } } }, "hgnc_date_symbol_changed": "1997-10-27" }, "entity_type": "gene", "entity_name": "ABCC6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33005041", "34355424" ], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Arterial calcification, generalized, of infancy, 2, #MIM614473" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "for review", "treatable" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12774", "gene_name": "Wnt family member 1", "omim_gene": [ "164820" ], "alias_name": null, "gene_symbol": "WNT1", "hgnc_symbol": "WNT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49372398-49375459", "ensembl_id": "ENSG00000125084" } }, "GRch38": { "90": { "location": "12:48978453-48981676", "ensembl_id": "ENSG00000125084" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "WNT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23499310", "23499309", "23656646", "26671912" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Osteogenesis imperfecta, type XV, MIM# 615220" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MDR2", "PFIC-3", "GBD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:45", "gene_name": "ATP binding cassette subfamily B member 4", "omim_gene": [ "171060" ], "alias_name": null, "gene_symbol": "ABCB4", "hgnc_symbol": "ABCB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:87031013-87109751", "ensembl_id": "ENSG00000005471" } }, "GRch38": { "90": { "location": "7:87401697-87480435", "ensembl_id": "ENSG00000005471" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "ABCB4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission", "Mackenzie's Mission" ], "phenotypes": [ "Cholestasis, progressive familial intrahepatic 3, 602347 (3)" ], "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:7108", "gene_name": "McKusick-Kaufman syndrome", "omim_gene": [ "604896" ], "alias_name": null, "gene_symbol": "MKKS", "hgnc_symbol": "MKKS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:10381657-10414870", "ensembl_id": "ENSG00000125863" } }, "GRch38": { "90": { "location": "20:10401009-10434222", "ensembl_id": "ENSG00000125863" } } }, "hgnc_date_symbol_changed": "1998-09-08" }, "entity_type": "gene", "entity_name": "MKKS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10973238", "10973251", "12107442", "20472660", "15770229", "20177705", "28761321", "30718709" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bardet-Biedl syndrome 6 MIM#605231", "McKusick-Kaufman syndrome MIM#236700", "MKKS-related ciliopathy MONDO:1040050" ], "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": [ "FLJ20277", "MGAT1.2", "LGMD2O" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19139", "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)", "omim_gene": [ "606822" ], "alias_name": [ "protein O-mannose beta-1,2-N-acetylglucosaminyltransferase" ], "gene_symbol": "POMGNT1", "hgnc_symbol": "POMGNT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:46654354-46685977", "ensembl_id": "ENSG00000085998" } }, "GRch38": { "90": { "location": "1:46188682-46220305", "ensembl_id": "ENSG00000085998" } } }, "hgnc_date_symbol_changed": "2005-06-02" }, "entity_type": "gene", "entity_name": "POMGNT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27391550", "26908613", "30961548", "30937090" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280", "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#61315" ], "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": [ "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": "str", "entity_name": "NAXE_NME_GGGCC", "confidence_level": "2", "penetrance": null, "publications": [ "39455596" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "repeated_sequence": "GGGCC", "chromosome": "1", "grch37_coordinates": [ 156561557, 156561575 ], "grch38_coordinates": [ 156591765, 156591783 ], "normal_repeats": 7, "pathogenic_repeats": 200, "tags": [], "panel": { "id": 3597, "hash_id": null, "name": "Repeat Disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.", "status": "public", "version": "0.272", "version_created": "2026-01-02T15:16:39.779953+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 76, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] } } ] }