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GET /api/v1/entities/?format=api&page=133
{ "count": 36124, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=134", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=132", "results": [ { "gene_data": { "alias": [ "NY-REN-55", "KIAA1901" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7744", "gene_name": "NIMA related kinase 1", "omim_gene": [ "604588" ], "alias_name": null, "gene_symbol": "NEK1", "hgnc_symbol": "NEK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:170314426-170533780", "ensembl_id": "ENSG00000137601" } }, "GRch38": { "90": { "location": "4:169392857-169612629", "ensembl_id": "ENSG00000137601" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "NEK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31768050", "26945885", "27455347", "29929116" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.49", "version_created": "2026-04-23T12:45:48.200383+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SAS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19237", "gene_name": "N-acetylneuraminate synthase", "omim_gene": [ "605202" ], "alias_name": [ "sialic acid synthase" ], "gene_symbol": "NANS", "hgnc_symbol": "NANS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:100819021-100845357", "ensembl_id": "ENSG00000095380" } }, "GRch38": { "90": { "location": "9:98056739-98083075", "ensembl_id": "ENSG00000095380" } } }, "hgnc_date_symbol_changed": "2002-12-16" }, "entity_type": "gene", "entity_name": "NANS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34163424" ], "evidence": [ "Expert Review Green", "Expert list", "Literature" ], "phenotypes": [ "Spondyloepimetaphyseal dysplasia, Camera-Genevieve type-MIM#610442", "NANS-CDG" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.250", "version_created": "2026-04-28T10:59:42.452256+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ11113", "KIAA1461" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20444", "gene_name": "methyl-CpG binding domain protein 5", "omim_gene": [ "611472" ], "alias_name": null, "gene_symbol": "MBD5", "hgnc_symbol": "MBD5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:148778580-149275805", "ensembl_id": "ENSG00000204406" } }, "GRch38": { "90": { "location": "2:148021011-148516971", "ensembl_id": "ENSG00000204406" } } }, "hgnc_date_symbol_changed": "2003-03-03" }, "entity_type": "gene", "entity_name": "MBD5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18812405", "21981781", "23708187", "22726846", "33912662" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal dominant 1, MIM# 156200", "MONDO:0007974" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "SV/CNV" ], "panel": { "id": 41, "hash_id": null, "name": "Angelman Rett like syndromes", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "1.15", "version_created": "2026-04-18T18:48:21.864731+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 38, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2040", "gene_name": "claudin 19", "omim_gene": [ "610036" ], "alias_name": null, "gene_symbol": "CLDN19", "hgnc_symbol": "CLDN19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:43198764-43205925", "ensembl_id": "ENSG00000164007" } }, "GRch38": { "90": { "location": "1:42733093-42740254", "ensembl_id": "ENSG00000164007" } } }, "hgnc_date_symbol_changed": "2000-03-15" }, "entity_type": "gene", "entity_name": "CLDN19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hypomagnesemia 5, renal, with ocular involvement, MIM#248190" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 42, "hash_id": null, "name": "Anophthalmia_Microphthalmia_Coloboma", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.57", "version_created": "2026-03-03T11:23:37.804849+11:00", "relevant_disorders": [ "Anophthalmia", "HP:0000528;Microphthalmia", "HP:0000568;Coloboma", "HP:0000589" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RhoA", "Rho12", "RHOH12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:667", "gene_name": "ras homolog family member A", "omim_gene": [ "165390" ], "alias_name": null, "gene_symbol": "RHOA", "hgnc_symbol": "RHOA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49396578-49450431", "ensembl_id": "ENSG00000067560" } }, "GRch38": { "90": { "location": "3:49359145-49412998", "ensembl_id": "ENSG00000067560" } } }, "hgnc_date_symbol_changed": "2004-03-23" }, "entity_type": "gene", "entity_name": "RHOA", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "31570889", "40414526" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, MIM# 618727" ], "mode_of_inheritance": "Other", "tags": [ "somatic" ], "panel": { "id": 42, "hash_id": null, "name": "Anophthalmia_Microphthalmia_Coloboma", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.57", "version_created": "2026-03-03T11:23:37.804849+11:00", "relevant_disorders": [ "Anophthalmia", "HP:0000528;Microphthalmia", "HP:0000568;Coloboma", "HP:0000589" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GLUT10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13444", "gene_name": "solute carrier family 2 member 10", "omim_gene": [ "606145" ], "alias_name": null, "gene_symbol": "SLC2A10", "hgnc_symbol": "SLC2A10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:45338126-45364965", "ensembl_id": "ENSG00000197496" } }, "GRch38": { "90": { "location": "20:46709487-46736347", "ensembl_id": "ENSG00000197496" } } }, "hgnc_date_symbol_changed": "2001-04-02" }, "entity_type": "gene", "entity_name": "SLC2A10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30071989", "16550171", "17935213" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Arterial tortuosity syndrome MIM#208050" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3535", "gene_name": "coagulation factor II, thrombin", "omim_gene": [ "176930" ], "alias_name": [ "prepro-coagulation factor II" ], "gene_symbol": "F2", "hgnc_symbol": "F2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:46740730-46761056", "ensembl_id": "ENSG00000180210" } }, "GRch38": { "90": { "location": "11:46719180-46739506", "ensembl_id": "ENSG00000180210" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "F2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "30297698" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD", "{Stroke, ischemic, susceptibility to} 601367 Mu", "Dysprothrombinemia 613679 AR", "Hypoprothrombinemia 613679 AR", "Thrombophilia due to thrombin defect 188050 AD" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "5'UTR" ], "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": "1.78", "version_created": "2026-04-28T15:02:15.205532+10:00", "relevant_disorders": [ "Abnormal bleeding", "HP:0001892;Abnormal thrombosis", "HP:0001977" ], "stats": { "number_of_genes": 140, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1241", "gene_name": "complement C1q A chain", "omim_gene": [ "120550" ], "alias_name": null, "gene_symbol": "C1QA", "hgnc_symbol": "C1QA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:22962999-22966101", "ensembl_id": "ENSG00000173372" } }, "GRch38": { "90": { "location": "1:22636506-22639608", "ensembl_id": "ENSG00000173372" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C1QA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9225968", "21654842", "9590289" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Immunology Flagship", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C1q deficiency, MIM# 613652" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "2.9", "version_created": "2026-04-27T16:21:49.971882+10:00", "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": [ "MGC9753", "CAB2", "PP1498", "PER1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23719", "gene_name": "post-GPI attachment to proteins 3", "omim_gene": [ "611801" ], "alias_name": [ "post-GPI attachment to proteins 3" ], "gene_symbol": "PGAP3", "hgnc_symbol": "PGAP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:37827375-37853050", "ensembl_id": "ENSG00000161395" } }, "GRch38": { "90": { "location": "17:39671122-39696797", "ensembl_id": "ENSG00000161395" } } }, "hgnc_date_symbol_changed": "2009-06-02" }, "entity_type": "gene", "entity_name": "PGAP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24439110", "29620724", "30345601", "30217754" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318" ], "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": "1.88", "version_created": "2026-04-29T19:07:54.905474+10:00", "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": [ "bA371L19.1", "hRFT2", "RFVT3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16187", "gene_name": "solute carrier family 52 member 3", "omim_gene": [ "613350" ], "alias_name": [ "hypothetical protein LOC113278" ], "gene_symbol": "SLC52A3", "hgnc_symbol": "SLC52A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:740724-749131", "ensembl_id": "ENSG00000101276" } }, "GRch38": { "90": { "location": "20:760080-776015", "ensembl_id": "ENSG00000101276" } } }, "hgnc_date_symbol_changed": "2012-02-29" }, "entity_type": "gene", "entity_name": "SLC52A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Brown-Vialetto-Van Laere syndrome 1, MIM#\t211530" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 71, "hash_id": null, "name": "Central Hypoventilation", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS.\r\n\r\nMore than 90% of individuals with congenital central hypoventilation syndrome have variants in the PHOX2B gene, most commonly an expansion of the polyalanine tract, which may not be tractable by all NGS assays.", "status": "public", "version": "1.7", "version_created": "2026-01-04T18:41:11.422790+11:00", "relevant_disorders": [ "Central hypoventilation HP:0007110" ], "stats": { "number_of_genes": 12, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Mi-2a", "ZFH", "Mi2-ALPHA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1918", "gene_name": "chromodomain helicase DNA binding protein 3", "omim_gene": [ "602120" ], "alias_name": null, "gene_symbol": "CHD3", "hgnc_symbol": "CHD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7788124-7816078", "ensembl_id": "ENSG00000170004" } }, "GRch38": { "90": { "location": "17:7884806-7912760", "ensembl_id": "ENSG00000170004" } } }, "hgnc_date_symbol_changed": "1998-03-20" }, "entity_type": "gene", "entity_name": "CHD3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38168508" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Snijders Blok-Campeau syndrome, MIM#618205" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.412", "version_created": "2026-04-29T13:55:13.542887+10:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RIBB", "ROC1", "MGC125864", "MGC125865" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10023", "gene_name": "Ras like without CAAX 1", "omim_gene": [ "609591" ], "alias_name": [ "Ric-like, expressed in many tissues", "GTP-binding protein Roc1" ], "gene_symbol": "RIT1", "hgnc_symbol": "RIT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155867599-155881195", "ensembl_id": "ENSG00000143622" } }, "GRch38": { "90": { "location": "1:155897808-155911404", "ensembl_id": "ENSG00000143622" } } }, "hgnc_date_symbol_changed": "2002-09-13" }, "entity_type": "gene", "entity_name": "RIT1", "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": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.540", "version_created": "2026-04-29T17:20:21.794068+10:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 254, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HLA-H" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4886", "gene_name": "hemochromatosis", "omim_gene": [ "613609" ], "alias_name": [ "high Fe" ], "gene_symbol": "HFE", "hgnc_symbol": "HFE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:26087509-26098571", "ensembl_id": "ENSG00000010704" } }, "GRch38": { "90": { "location": "6:26087281-26098343", "ensembl_id": "ENSG00000010704" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "HFE", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hemochromatosis, MIM# 235200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 78, "hash_id": null, "name": "Cholestasis", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.10", "version_created": "2026-03-26T17:26:27.105917+11:00", "relevant_disorders": [ "Cholestasis HP:0001396" ], "stats": { "number_of_genes": 99, "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": [ "P5", "ERp5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30168", "gene_name": "protein disulfide isomerase family A member 6", "omim_gene": [ "611099" ], "alias_name": [ "protein disulfide isomerase-related protein" ], "gene_symbol": "PDIA6", "hgnc_symbol": "PDIA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:10923517-10978103", "ensembl_id": "ENSG00000143870" } }, "GRch38": { "90": { "location": "2:10783391-10837977", "ensembl_id": "ENSG00000143870" } } }, "hgnc_date_symbol_changed": "2005-03-03" }, "entity_type": "gene", "entity_name": "PDIA6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40974269", "35856135", "33495992" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "multiple congenital anomalies, MONDO:0019042, PDIA6-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RSK", "RSK2", "HU-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10432", "gene_name": "ribosomal protein S6 kinase A3", "omim_gene": [ "300075" ], "alias_name": null, "gene_symbol": "RPS6KA3", "hgnc_symbol": "RPS6KA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:20168029-20285523", "ensembl_id": "ENSG00000177189" } }, "GRch38": { "90": { "location": "X:20149911-20267100", "ensembl_id": "ENSG00000177189" } } }, "hgnc_date_symbol_changed": "1994-07-11" }, "entity_type": "gene", "entity_name": "RPS6KA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 115, "hash_id": null, "name": "Hydrocephalus_Ventriculomegaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.", "status": "public", "version": "0.134", "version_created": "2026-01-28T12:49:29.963583+11:00", "relevant_disorders": [ "Hydrocephalus", "HP:0000238; Ventriculomegaly", "HP:0002119" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GAP1M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9872", "gene_name": "RAS p21 protein activator 2", "omim_gene": [ "601589" ], "alias_name": null, "gene_symbol": "RASA2", "hgnc_symbol": "RASA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:141205889-141334184", "ensembl_id": "ENSG00000155903" } }, "GRch38": { "90": { "location": "3:141487047-141615342", "ensembl_id": "ENSG00000155903" } } }, "hgnc_date_symbol_changed": "1996-11-15" }, "entity_type": "gene", "entity_name": "RASA2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25049390", "30311384" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9725", "gene_name": "glycogen phosphorylase L", "omim_gene": [ "613741" ], "alias_name": [ "Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form" ], "gene_symbol": "PYGL", "hgnc_symbol": "PYGL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:51324609-51411454", "ensembl_id": "ENSG00000100504" } }, "GRch38": { "90": { "location": "14:50857891-50944736", "ensembl_id": "ENSG00000100504" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PYGL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9529348", "9536091", "33505429", "32961316", "32892177" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease VI, MIM# 232700" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "WNT14B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12779", "gene_name": "Wnt family member 9B", "omim_gene": [ "602864" ], "alias_name": null, "gene_symbol": "WNT9B", "hgnc_symbol": "WNT9B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:44910567-44964096", "ensembl_id": "ENSG00000158955" } }, "GRch38": { "90": { "location": "17:46833201-46886730", "ensembl_id": "ENSG00000158955" } } }, "hgnc_date_symbol_changed": "2003-03-14" }, "entity_type": "gene", "entity_name": "WNT9B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34145744" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Renal agenesis/hypoplasia/dysplasia" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "HBA-T3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4823", "gene_name": "hemoglobin subunit alpha 1", "omim_gene": [ "141800" ], "alias_name": null, "gene_symbol": "HBA1", "hgnc_symbol": "HBA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:226679-227521", "ensembl_id": "ENSG00000206172" } }, "GRch38": { "90": { "location": "16:176680-177522", "ensembl_id": "ENSG00000206172" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HBA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Erythrocytosis 7, MIM# 617981", "Heinz body anemias, alpha-, MIM# 140700", "Methemoglobinemia, alpha type , MIM#617973", "Thalassemias, alpha-, MIM# 604131", "Hemoglobin H disease, nondeletional, MIM# 613978" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "VEGFR3", "PCL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3767", "gene_name": "fms related tyrosine kinase 4", "omim_gene": [ "136352" ], "alias_name": null, "gene_symbol": "FLT4", "hgnc_symbol": "FLT4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:180028506-180076624", "ensembl_id": "ENSG00000037280" } }, "GRch38": { "90": { "location": "5:180601506-180649624", "ensembl_id": "ENSG00000037280" } } }, "hgnc_date_symbol_changed": "1991-10-25" }, "entity_type": "gene", "entity_name": "FLT4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9817924", "10835628", "12960217", "30232381" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital heart defects, multiple types, 7, MIM# 618780", "Lymphatic malformation 1, MIM# 153100" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "SmgGDS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9859", "gene_name": "Rap1 GTPase-GDP dissociation stimulator 1", "omim_gene": [ "179502" ], "alias_name": null, "gene_symbol": "RAP1GDS1", "hgnc_symbol": "RAP1GDS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:99182535-99365012", "ensembl_id": "ENSG00000138698" } }, "GRch38": { "90": { "location": "4:98261384-98443861", "ensembl_id": "ENSG00000138698" } } }, "hgnc_date_symbol_changed": "1994-03-23" }, "entity_type": "gene", "entity_name": "RAP1GDS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32431071", "33875846" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Alfadhel syndrome, MIM# 620655" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "retSDR1", "Rsdr1", "SDR1", "RDH17", "SDR16C1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17693", "gene_name": "dehydrogenase/reductase 3", "omim_gene": [ "612830" ], "alias_name": [ "short chain dehydrogenase/reductase family 16C, member 1" ], "gene_symbol": "DHRS3", "hgnc_symbol": "DHRS3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:12627939-12677737", "ensembl_id": "ENSG00000162496" } }, "GRch38": { "90": { "location": "1:12567910-12617731", "ensembl_id": "ENSG00000162496" } } }, "hgnc_date_symbol_changed": "2003-12-02" }, "entity_type": "gene", "entity_name": "DHRS3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40519748" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Craniosynostosis-scoliosis syndrome, MIM# 621499" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "FLJ21062", "FAP69" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26107", "gene_name": "cilia and flagella associated protein 69", "omim_gene": null, "alias_name": [ "hypothetical protein FLJ21062", "flagellar protein 69 homolog (Chlamydomonas)" ], "gene_symbol": "CFAP69", "hgnc_symbol": "CFAP69", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:89874488-89940377", "ensembl_id": "ENSG00000105792" } }, "GRch38": { "90": { "location": "7:90245174-90311063", "ensembl_id": "ENSG00000105792" } } }, "hgnc_date_symbol_changed": "2014-07-31" }, "entity_type": "gene", "entity_name": "CFAP69", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29606301", "30415212" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Asthenoteratospermia (Impaired sperm motility", "severe flagellar abnormalities (short, coiled, absent or irregular calibre))" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "HB9", "HOXHB9", "SCRA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4979", "gene_name": "motor neuron and pancreas homeobox 1", "omim_gene": [ "142994" ], "alias_name": null, "gene_symbol": "MNX1", "hgnc_symbol": "MNX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:156786745-156803345", "ensembl_id": "ENSG00000130675" } }, "GRch38": { "90": { "location": "7:156994051-157010651", "ensembl_id": "ENSG00000130675" } } }, "hgnc_date_symbol_changed": "2007-08-09" }, "entity_type": "gene", "entity_name": "MNX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32571425", "33836786", "11528505" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Currarino syndrome, MIM# 176450", "Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "LASP2", "LNEBL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16932", "gene_name": "nebulette", "omim_gene": [ "605491" ], "alias_name": [ "LIM and SH3 protein 2", "LIM-nebulette" ], "gene_symbol": "NEBL", "hgnc_symbol": "NEBL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:21068902-21463116", "ensembl_id": "ENSG00000078114" } }, "GRch38": { "90": { "location": "10:20779973-21174187", "ensembl_id": "ENSG00000078114" } } }, "hgnc_date_symbol_changed": "2004-05-27" }, "entity_type": "gene", "entity_name": "NEBL", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27186169" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypertrophic cardiomyopathy", "dilated cardiomyopathy" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "FLJ25513", "DKFZp547J199", "IFITMD1", "FICCA", "DSPB3", "PKC", "EKD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30500", "gene_name": "proline rich transmembrane protein 2", "omim_gene": [ "614386" ], "alias_name": [ "interferon induced transmembrane protein domain containing 1" ], "gene_symbol": "PRRT2", "hgnc_symbol": "PRRT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:29823177-29827201", "ensembl_id": "ENSG00000167371" } }, "GRch38": { "90": { "location": "16:29811382-29815892", "ensembl_id": "ENSG00000167371" } } }, "hgnc_date_symbol_changed": "2005-11-25" }, "entity_type": "gene", "entity_name": "PRRT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33126500", "30501978", "30713971", "27423591", "25595153" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "PRRT2-associated paroxysmal movement disorder MONDO:0100556" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "PC-1", "PCA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3356", "gene_name": "ectonucleotide pyrophosphatase/phosphodiesterase 1", "omim_gene": [ "173335" ], "alias_name": null, "gene_symbol": "ENPP1", "hgnc_symbol": "ENPP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:132129156-132216295", "ensembl_id": "ENSG00000197594" } }, "GRch38": { "90": { "location": "6:131808016-131895155", "ensembl_id": "ENSG00000197594" } } }, "hgnc_date_symbol_changed": "1992-12-08" }, "entity_type": "gene", "entity_name": "ENPP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24075184", "32598042" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cole disease (MIM#615522)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DIC5", "MGC20486", "bA216B9.3", "FAP133" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28296", "gene_name": "WD repeat domain 34", "omim_gene": [ "613363" ], "alias_name": null, "gene_symbol": "WDR34", "hgnc_symbol": "WDR34", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131395940-131419066", "ensembl_id": "ENSG00000119333" } }, "GRch38": { "90": { "location": "9:128633661-128656787", "ensembl_id": "ENSG00000119333" } } }, "hgnc_date_symbol_changed": "2013-02-19" }, "entity_type": "gene", "entity_name": "WDR34", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 159, "hash_id": null, "name": "Polydactyly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.", "status": "public", "version": "0.303", "version_created": "2026-04-23T20:20:44.540776+10:00", "relevant_disorders": [ "Polydactyly", "HP:0010442" ], "stats": { "number_of_genes": 141, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PKND" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2536", "gene_name": "cathepsin K", "omim_gene": [ "601105" ], "alias_name": null, "gene_symbol": "CTSK", "hgnc_symbol": "CTSK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:150768684-150780799", "ensembl_id": "ENSG00000143387" } }, "GRch38": { "90": { "location": "1:150796208-150808323", "ensembl_id": "ENSG00000143387" } } }, "hgnc_date_symbol_changed": "1995-05-11" }, "entity_type": "gene", "entity_name": "CTSK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32667742", "25725806", "25304337" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Pycnodysostosis\t265800" ], "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": [ "SLB", "wim", "osm-1", "NPHP17", "BBS20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30391", "gene_name": "intraflagellar transport 172", "omim_gene": [ "607386" ], "alias_name": [ "wimple homolog" ], "gene_symbol": "IFT172", "hgnc_symbol": "IFT172", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:27667238-27712656", "ensembl_id": "ENSG00000138002" } }, "GRch38": { "90": { "location": "2:27444371-27489789", "ensembl_id": "ENSG00000138002" } } }, "hgnc_date_symbol_changed": "2005-11-02" }, "entity_type": "gene", "entity_name": "IFT172", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30761183", "26763875", "25168386", "24140113" ], "evidence": [ "Expert Review Green", "KidGen_CilioNephronop v38.1.0", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 20, MIM# 619471", "Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 193, "hash_id": null, "name": "Renal Ciliopathies and Nephronophthisis", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen", "status": "public", "version": "1.53", "version_created": "2026-03-19T17:14:29.802874+11:00", "relevant_disorders": [ "Abnormality of renal medullary morphology", "HP:0025361; Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RAYL", "BBS19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18626", "gene_name": "intraflagellar transport 27", "omim_gene": [ "615870" ], "alias_name": null, "gene_symbol": "IFT27", "hgnc_symbol": "IFT27", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:37154246-37172300", "ensembl_id": "ENSG00000100360" } }, "GRch38": { "90": { "location": "22:36758202-36776256", "ensembl_id": "ENSG00000100360" } } }, "hgnc_date_symbol_changed": "2010-04-22" }, "entity_type": "gene", "entity_name": "IFT27", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24488770", "30761183", "26763875", "25443296" ], "evidence": [ "Expert Review Green", "Expert list", "KidGen_CilioNephronop v38.1.0" ], "phenotypes": [ "Bardet-Biedl syndrome 19, MIM#615996" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 193, "hash_id": null, "name": "Renal Ciliopathies and Nephronophthisis", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen", "status": "public", "version": "1.53", "version_created": "2026-03-19T17:14:29.802874+11:00", "relevant_disorders": [ "Abnormality of renal medullary morphology", "HP:0025361; Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "semaZ", "SEMA-VIB", "SEM-SEMA-Y" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10739", "gene_name": "semaphorin 6B", "omim_gene": [ "608873" ], "alias_name": [ "Sema VIb", "semaphorin Z", "semaphorin VIB" ], "gene_symbol": "SEMA6B", "hgnc_symbol": "SEMA6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:4542600-4559820", "ensembl_id": "ENSG00000167680" } }, "GRch38": { "90": { "location": "19:4542593-4559808", "ensembl_id": "ENSG00000167680" } } }, "hgnc_date_symbol_changed": "1999-06-25" }, "entity_type": "gene", "entity_name": "SEMA6B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "32169168" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Progressive myoclonic epilepsy" ], "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": "1.414", "version_created": "2026-04-29T19:08:58.015652+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1157, "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": [ "FLJ20695" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22965", "gene_name": "peroxisomal biogenesis factor 26", "omim_gene": [ "608666" ], "alias_name": null, "gene_symbol": "PEX26", "hgnc_symbol": "PEX26", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:18560689-18613905", "ensembl_id": "ENSG00000215193" } }, "GRch38": { "90": { "location": "22:18077920-18131138", "ensembl_id": "ENSG00000215193" } } }, "hgnc_date_symbol_changed": "2003-08-05" }, "entity_type": "gene", "entity_name": "PEX26", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34430430", "28823628" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872" ], "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": "1.414", "version_created": "2026-04-29T19:08:58.015652+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1157, "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": [ "bA59I9.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23041", "gene_name": "decaprenyl diphosphate synthase subunit 2", "omim_gene": [ "610564" ], "alias_name": null, "gene_symbol": "PDSS2", "hgnc_symbol": "PDSS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:107473761-107780768", "ensembl_id": "ENSG00000164494" } }, "GRch38": { "90": { "location": "6:107152557-107459564", "ensembl_id": "ENSG00000164494" } } }, "hgnc_date_symbol_changed": "2006-02-14" }, "entity_type": "gene", "entity_name": "PDSS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29032433", "25349199", "17186472", "21723727", "10972372" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 3 MIM#614652" ], "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": "1.23", "version_created": "2026-04-30T15:32:02.669324+10:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 439, "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": [ "AIGF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3686", "gene_name": "fibroblast growth factor 8", "omim_gene": [ "600483" ], "alias_name": [ "androgen-induced growth factor" ], "gene_symbol": "FGF8", "hgnc_symbol": "FGF8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:103529899-103535854", "ensembl_id": "ENSG00000107831" } }, "GRch38": { "90": { "location": "10:101770130-101780369", "ensembl_id": "ENSG00000107831" } } }, "hgnc_date_symbol_changed": "1995-08-15" }, "entity_type": "gene", "entity_name": "FGF8", "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": 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": [ "NK3R" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11528", "gene_name": "tachykinin receptor 3", "omim_gene": [ "162332" ], "alias_name": [ "neurokinin beta receptor" ], "gene_symbol": "TACR3", "hgnc_symbol": "TACR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:104507188-104640973", "ensembl_id": "ENSG00000169836" } }, "GRch38": { "90": { "location": "4:103586031-103719816", "ensembl_id": "ENSG00000169836" } } }, "hgnc_date_symbol_changed": "1997-11-28" }, "entity_type": "gene", "entity_name": "TACR3", "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": 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": [ "ATV", "AT-V2", "AT-V1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7652", "gene_name": "nibrin", "omim_gene": [ "602667" ], "alias_name": null, "gene_symbol": "NBN", "hgnc_symbol": "NBN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:90945564-91015456", "ensembl_id": "ENSG00000104320" } }, "GRch38": { "90": { "location": "8:89933336-90003228", "ensembl_id": "ENSG00000104320" } } }, "hgnc_date_symbol_changed": "2005-06-02" }, "entity_type": "gene", "entity_name": "NBN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "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": [ "KIAA1307", "KIAA0462", "RBAF600" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30313", "gene_name": "ubiquitin protein ligase E3 component n-recognin 4", "omim_gene": [ "609890" ], "alias_name": null, "gene_symbol": "UBR4", "hgnc_symbol": "UBR4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:19401000-19536770", "ensembl_id": "ENSG00000127481" } }, "GRch38": { "90": { "location": "1:19074506-19210276", "ensembl_id": "ENSG00000127481" } } }, "hgnc_date_symbol_changed": "2007-06-19" }, "entity_type": "gene", "entity_name": "UBR4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29062094", "23982692", "28600779" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Episodic ataxia", "progressive neurological deterioration" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2204", "gene_name": "collagen type IV alpha 3 chain", "omim_gene": [ "120070" ], "alias_name": [ "tumstatin" ], "gene_symbol": "COL4A3", "hgnc_symbol": "COL4A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:228029281-228179508", "ensembl_id": "ENSG00000169031" } }, "GRch38": { "90": { "location": "2:227164565-227314792", "ensembl_id": "ENSG00000169031" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "COL4A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Alport syndrome 2, autosomal recessive, MIM# 203780" ], "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": [ "B14.7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20371", "gene_name": "NADH:ubiquinone oxidoreductase subunit A11", "omim_gene": [ "612638" ], "alias_name": [ "complex I B14.7 subunit" ], "gene_symbol": "NDUFA11", "hgnc_symbol": "NDUFA11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:5891287-5904017", "ensembl_id": "ENSG00000174886" } }, "GRch38": { "90": { "location": "19:5891276-5904006", "ensembl_id": "ENSG00000174886" } } }, "hgnc_date_symbol_changed": "2003-12-03" }, "entity_type": "gene", "entity_name": "NDUFA11", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18306244", "31074871" ], "evidence": [ "Expert Review Amber", "Genetic Health Queensland" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 14, MIM#618236" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "JTK12", "CD140b", "PDGFR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8804", "gene_name": "platelet derived growth factor receptor beta", "omim_gene": [ "173410" ], "alias_name": null, "gene_symbol": "PDGFRB", "hgnc_symbol": "PDGFRB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:149493400-149535435", "ensembl_id": "ENSG00000113721" } }, "GRch38": { "90": { "location": "5:150113837-150155872", "ensembl_id": "ENSG00000113721" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PDGFRB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31710779", "35221873" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Kosaki overgrowth syndrome MIM#616592" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "FBI-1", "LRF", "DKFZp547O146", "pokemon", "ZNF857A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18078", "gene_name": "zinc finger and BTB domain containing 7A", "omim_gene": [ "605878" ], "alias_name": [ "zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor" ], "gene_symbol": "ZBTB7A", "hgnc_symbol": "ZBTB7A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:4044362-4066943", "ensembl_id": "ENSG00000178951" } }, "GRch38": { "90": { "location": "19:4044364-4066945", "ensembl_id": "ENSG00000178951" } } }, "hgnc_date_symbol_changed": "2005-04-07" }, "entity_type": "gene", "entity_name": "ZBTB7A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34515416", "31645653" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769)" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "NR3B3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3474", "gene_name": "estrogen related receptor gamma", "omim_gene": [ "602969" ], "alias_name": null, "gene_symbol": "ESRRG", "hgnc_symbol": "ESRRG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:216676588-217311097", "ensembl_id": "ENSG00000196482" } }, "GRch38": { "90": { "location": "1:216503246-217137755", "ensembl_id": "ENSG00000196482" } } }, "hgnc_date_symbol_changed": "1998-02-17" }, "entity_type": "gene", "entity_name": "ESRRG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41265451" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Movement disorder, MONDO:0005395, ESRRG-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "P5", "ERp5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30168", "gene_name": "protein disulfide isomerase family A member 6", "omim_gene": [ "611099" ], "alias_name": [ "protein disulfide isomerase-related protein" ], "gene_symbol": "PDIA6", "hgnc_symbol": "PDIA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:10923517-10978103", "ensembl_id": "ENSG00000143870" } }, "GRch38": { "90": { "location": "2:10783391-10837977", "ensembl_id": "ENSG00000143870" } } }, "hgnc_date_symbol_changed": "2005-03-03" }, "entity_type": "gene", "entity_name": "PDIA6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40974269", "35856135", "33495992" ], "evidence": [ "Expert Review Green", "Literature", "Literature", "Literature", "Literature" ], "phenotypes": [ "multiple congenital anomalies, MONDO:0019042, PDIA6-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.444", "version_created": "2026-04-30T17:18:26.299482+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 639, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3642", "gene_name": "ferredoxin reductase", "omim_gene": [ "103270" ], "alias_name": [ "adrenodoxin-NADP(+) reductase", "adrenodoxin reductase" ], "gene_symbol": "FDXR", "hgnc_symbol": "FDXR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:72858619-72869156", "ensembl_id": "ENSG00000161513" } }, "GRch38": { "90": { "location": "17:74862497-74873031", "ensembl_id": "ENSG00000161513" } } }, "hgnc_date_symbol_changed": "1988-06-09" }, "entity_type": "gene", "entity_name": "FDXR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30250212", "28965846", "29040572", "33348459", "37046037", "37481223" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887" ], "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": [ "FLJ45472" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4235", "gene_name": "glial fibrillary acidic protein", "omim_gene": [ "137780" ], "alias_name": [ "intermediate filament protein" ], "gene_symbol": "GFAP", "hgnc_symbol": "GFAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42982376-42994305", "ensembl_id": "ENSG00000131095" } }, "GRch38": { "90": { "location": "17:44903161-44916937", "ensembl_id": "ENSG00000131095" } } }, "hgnc_date_symbol_changed": "1989-12-07" }, "entity_type": "gene", "entity_name": "GFAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Alexander disease, 203450", "Autosomal Dominant Ataxia", "Alexander disease" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": [ "FLJ30273", "SDR7C2", "LCA13", "RP53" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19977", "gene_name": "retinol dehydrogenase 12 (all-trans/9-cis/11-cis)", "omim_gene": [ "608830" ], "alias_name": [ "short chain dehydrogenase/reductase family 7C, member 2" ], "gene_symbol": "RDH12", "hgnc_symbol": "RDH12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:68168603-68201169", "ensembl_id": "ENSG00000139988" } }, "GRch38": { "90": { "location": "14:67701886-67734452", "ensembl_id": "ENSG00000139988" } } }, "hgnc_date_symbol_changed": "2002-12-11" }, "entity_type": "gene", "entity_name": "RDH12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15258582", "32014858" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Leber congenital amaurosis 13, 612712", "RDH12-related recessive retinopathy MONDO:0800099" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CSNB3", "rd1", "RP40", "CSNBAD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8786", "gene_name": "phosphodiesterase 6B", "omim_gene": [ "180072" ], "alias_name": [ "congenital stationary night blindness 3, autosomal dominant" ], "gene_symbol": "PDE6B", "hgnc_symbol": "PDE6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:619373-664571", "ensembl_id": "ENSG00000133256" } }, "GRch38": { "90": { "location": "4:625584-670782", "ensembl_id": "ENSG00000133256" } } }, "hgnc_date_symbol_changed": "1991-01-15" }, "entity_type": "gene", "entity_name": "PDE6B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8394174", "7599633", "18854872", "33177553", "33673512", "25827439" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "inherited retinal dystrophy MONDO:0019118" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSPC138", "HSPC179", "OPI10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26938", "gene_name": "Hikeshi, heat shock protein nuclear import factor", "omim_gene": [ "614908" ], "alias_name": null, "gene_symbol": "HIKESHI", "hgnc_symbol": "HIKESHI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:86013253-86056969", "ensembl_id": "ENSG00000149196" } }, "GRch38": { "90": { "location": "11:86302211-86345931", "ensembl_id": "ENSG00000149196" } } }, "hgnc_date_symbol_changed": "2016-06-07" }, "entity_type": "gene", "entity_name": "HIKESHI", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list", "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 13, MIM#616881" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10852", "gene_name": "serine hydroxymethyltransferase 2", "omim_gene": [ "138450" ], "alias_name": null, "gene_symbol": "SHMT2", "hgnc_symbol": "SHMT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:57623110-57628718", "ensembl_id": "ENSG00000182199" } }, "GRch38": { "90": { "location": "12:57229327-57234935", "ensembl_id": "ENSG00000182199" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "SHMT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33015733" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121", "Congenital microcephaly", "Infantile axial hypotonia", "Spastic paraparesis", "Global developmental delay", "Intellectual disability", "Abnormality of the corpus callosum", "Abnormal cortical gyration", "Hypertrophic cardiomyopathy", "Abnormality of the face", "Proximal placement of thumb", "2-3 toe syndactyly" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KCS1", "pac2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11582", "gene_name": "tubulin folding cofactor E", "omim_gene": [ "604934" ], "alias_name": null, "gene_symbol": "TBCE", "hgnc_symbol": "TBCE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:235530675-235612283", "ensembl_id": "ENSG00000116957" } }, "GRch38": { "90": { "location": "1:235367360-235448968", "ensembl_id": "ENSG00000116957" } } }, "hgnc_date_symbol_changed": "1998-07-31" }, "entity_type": "gene", "entity_name": "TBCE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 27666369" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Encephalopathy, progressive, with amyotrophy and optic atrophy\t617207" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6189", "gene_name": "jagged 2", "omim_gene": [ "602570" ], "alias_name": null, "gene_symbol": "JAG2", "hgnc_symbol": "JAG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:105607318-105635161", "ensembl_id": "ENSG00000184916" } }, "GRch38": { "90": { "location": "14:105140981-105168824", "ensembl_id": "ENSG00000184916" } } }, "hgnc_date_symbol_changed": "1998-06-05" }, "entity_type": "gene", "entity_name": "JAG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33861953" ], "evidence": [ "Expert Review Green", "Other", "Literature" ], "phenotypes": [ "muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "OATP8", "OATP1B3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10961", "gene_name": "solute carrier organic anion transporter family member 1B3", "omim_gene": [ "605495" ], "alias_name": null, "gene_symbol": "SLCO1B3", "hgnc_symbol": "SLCO1B3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:20963636-21243040", "ensembl_id": "ENSG00000111700" } }, "GRch38": { "90": { "location": "12:20810702-20916911", "ensembl_id": "ENSG00000111700" } } }, "hgnc_date_symbol_changed": "2003-11-26" }, "entity_type": "gene", "entity_name": "SLCO1B3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "36964102, 33860121" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 3077, "hash_id": null, "name": "Haem degradation and bilirubin metabolism defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause disorders of tetrapyrroles, including porphyria and disorders of bilirubin metabolism and biliary transport. \r\n\r\nThis panel is part of the Metabolic Disorders Superpanl. It was developed and maintained by RMH, and is a consensus panel used by VCGS.", "status": "public", "version": "0.20", "version_created": "2026-02-22T15:38:52.606788+11:00", "relevant_disorders": [ "Porphyria", "MONDO:0037939;Abnormal circulating porphyrin concentration", "HP:0010472;Hyperbilirubinemia", "HP:0002904" ], "stats": { "number_of_genes": 25, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC10442" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1057", "gene_name": "BLK proto-oncogene, Src family tyrosine kinase", "omim_gene": [ "191305" ], "alias_name": null, "gene_symbol": "BLK", "hgnc_symbol": "BLK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:11351510-11422113", "ensembl_id": "ENSG00000136573" } }, "GRch38": { "90": { "location": "8:11494001-11564604", "ensembl_id": "ENSG00000136573" } } }, "hgnc_date_symbol_changed": "1995-05-17" }, "entity_type": "gene", "entity_name": "BLK", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Radboud University Medical Center, Nijmegen", "Expert Review Red", "Illumina TruGenome Clinical Sequencing Services", "Royal Melbourne Hospital" ], "phenotypes": [ "Maturity-onset diabetes of the young, type 11, 613375", "Maturity Onset Diabetes of the Young" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "refuted" ], "panel": { "id": 3093, "hash_id": null, "name": "Monogenic Diabetes", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).", "status": "public", "version": "0.224", "version_created": "2026-04-06T18:03:06.439122+10:00", "relevant_disorders": [ "Diabetes mellitus", "HP:0000819" ], "stats": { "number_of_genes": 109, "number_of_strs": 0, "number_of_regions": 2 }, "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" }, { "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:449", "gene_name": "ALX homeobox 3", "omim_gene": [ "606014" ], "alias_name": null, "gene_symbol": "ALX3", "hgnc_symbol": "ALX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:110602616-110613322", "ensembl_id": "ENSG00000156150" } }, "GRch38": { "90": { "location": "1:110059994-110070700", "ensembl_id": "ENSG00000156150" } } }, "hgnc_date_symbol_changed": "1998-04-08" }, "entity_type": "gene", "entity_name": "ALX3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15127764" ], "evidence": [ "UKGTN", "Radboud University Medical Center, Nijmegen", "Expert Review Red" ], "phenotypes": [ "Frontonasal dysplasia 1 136760" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3098, "hash_id": null, "name": "Lymphoedema", "disease_group": "Cardiovascular disorders", "disease_sub_group": "Lymphatic Disorders", "description": "The panel contains genes associated with nonsyndromic and syndromic lymphoedema.", "status": "public", "version": "0.32", "version_created": "2026-02-06T22:04:55.315713+11:00", "relevant_disorders": [ "Lymphedema", "HP:0001004" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PITALRE", "C-2k", "TAK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1780", "gene_name": "cyclin dependent kinase 9", "omim_gene": [ "603251" ], "alias_name": null, "gene_symbol": "CDK9", "hgnc_symbol": "CDK9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:130547958-130553066", "ensembl_id": "ENSG00000136807" } }, "GRch38": { "90": { "location": "9:127785679-127790787", "ensembl_id": "ENSG00000136807" } } }, "hgnc_date_symbol_changed": "1998-04-29" }, "entity_type": "gene", "entity_name": "CDK9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40954203", "33640901", "30237576", "26633546" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160", "CHARGE-like syndrome with retinal dystrophy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3099, "hash_id": null, "name": "Syndromic Retinopathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.", "status": "public", "version": "0.259", "version_created": "2026-04-29T17:42:46.611968+10:00", "relevant_disorders": [ "Retinopathy", "HP:0000488" ], "stats": { "number_of_genes": 139, "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": [] }, { "gene_data": { "alias": [ "bA430M15.1", "CanIon" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19082", "gene_name": "sodium leak channel, non-selective", "omim_gene": [ "611549" ], "alias_name": null, "gene_symbol": "NALCN", "hgnc_symbol": "NALCN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:101706130-102068843", "ensembl_id": "ENSG00000102452" } }, "GRch38": { "90": { "location": "13:101053776-101416492", "ensembl_id": "ENSG00000102452" } } }, "hgnc_date_symbol_changed": "2007-04-26" }, "entity_type": "gene", "entity_name": "NALCN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (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": [ "HGPS", "MADA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6636", "gene_name": "lamin A/C", "omim_gene": [ "150330" ], "alias_name": [ "mandibuloacral dysplasia type A" ], "gene_symbol": "LMNA", "hgnc_symbol": "LMNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156052364-156109880", "ensembl_id": "ENSG00000160789" } }, "GRch38": { "90": { "location": "1:156082573-156140089", "ensembl_id": "ENSG00000160789" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "LMNA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Restrictive dermopathy, lethal, 275210 (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": [ "bK3184A7.3", "NHL", "DKFZP434C013", "KIAA1088", "RTEL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15888", "gene_name": "regulator of telomere elongation helicase 1", "omim_gene": [ "608833" ], "alias_name": null, "gene_symbol": "RTEL1", "hgnc_symbol": "RTEL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:62289163-62328416", "ensembl_id": "ENSG00000258366" } }, "GRch38": { "90": { "location": "20:63657810-63696253", "ensembl_id": "ENSG00000258366" } } }, "hgnc_date_symbol_changed": "2004-10-29" }, "entity_type": "gene", "entity_name": "RTEL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Dyskeratosis congenita, autosomal recessive 5, 615190 (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": [ "p180" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9173", "gene_name": "DNA polymerase alpha 1, catalytic subunit", "omim_gene": [ "312040" ], "alias_name": null, "gene_symbol": "POLA1", "hgnc_symbol": "POLA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:24712036-25015103", "ensembl_id": "ENSG00000101868" } }, "GRch38": { "90": { "location": "X:24693919-24996986", "ensembl_id": "ENSG00000101868" } } }, "hgnc_date_symbol_changed": "2006-09-26" }, "entity_type": "gene", "entity_name": "POLA1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Mackenzie's Mission" ], "phenotypes": [ "Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220", "Van Esch-O'Driscoll syndrome, MIM #301030" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "ISSX", "CT121", "EIEE1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18060", "gene_name": "aristaless related homeobox", "omim_gene": [ "300382" ], "alias_name": [ "cancer/testis antigen 121" ], "gene_symbol": "ARX", "hgnc_symbol": "ARX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:25021811-25034065", "ensembl_id": "ENSG00000004848" } }, "GRch38": { "90": { "location": "X:25003694-25016420", "ensembl_id": "ENSG00000004848" } } }, "hgnc_date_symbol_changed": "2002-02-11" }, "entity_type": "gene", "entity_name": "ARX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hydranencephaly with abnormal genitalia, 300215 (3)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "KIAA0307", "bHLHe1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16876", "gene_name": "aryl hydrocarbon receptor nuclear translocator 2", "omim_gene": [ "606036" ], "alias_name": null, "gene_symbol": "ARNT2", "hgnc_symbol": "ARNT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:80696692-80890278", "ensembl_id": "ENSG00000172379" } }, "GRch38": { "90": { "location": "15:80404350-80597937", "ensembl_id": "ENSG00000172379" } } }, "hgnc_date_symbol_changed": "2001-12-05" }, "entity_type": "gene", "entity_name": "ARNT2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24022475, 11381139" ], "evidence": [ "Expert Review Amber", "Literature", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Webb-Dattani syndrome 615926" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.226", "version_created": "2026-04-23T15:35:12.037215+10:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 128, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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:1071", "gene_name": "bone morphogenetic protein 4", "omim_gene": [ "112262" ], "alias_name": null, "gene_symbol": "BMP4", "hgnc_symbol": "BMP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:54416454-54425479", "ensembl_id": "ENSG00000125378" } }, "GRch38": { "90": { "location": "14:53949736-53958761", "ensembl_id": "ENSG00000125378" } } }, "hgnc_date_symbol_changed": "1990-06-11" }, "entity_type": "gene", "entity_name": "BMP4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31120642, 24289245, 18252212, 35633847" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Microphthalmia, syndromic 6, MIM#607932" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.226", "version_created": "2026-04-23T15:35:12.037215+10:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 128, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1839", "FLJ20008", "RBM40", "SNRNP65" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18666", "gene_name": "RNA binding region (RNP1, RRM) containing 3", "omim_gene": null, "alias_name": [ "U11/U12 snRNP 65K" ], "gene_symbol": "RNPC3", "hgnc_symbol": "RNPC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:104068313-104097861", "ensembl_id": "ENSG00000185946" } }, "GRch38": { "90": { "location": "1:103525691-103555239", "ensembl_id": "ENSG00000185946" } } }, "hgnc_date_symbol_changed": "2002-09-17" }, "entity_type": "gene", "entity_name": "RNPC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29866761", "32462814", "33650182", "37463572", "35792517", "34906446" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Growth hormone deficiency", "Intellectual disability" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.226", "version_created": "2026-04-23T15:35:12.037215+10:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 128, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AQDQ", "CI-18" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7711", "gene_name": "NADH:ubiquinone oxidoreductase subunit S4", "omim_gene": [ "602694" ], "alias_name": [ "complex I 18kDa subunit" ], "gene_symbol": "NDUFS4", "hgnc_symbol": "NDUFS4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:52856463-52979168", "ensembl_id": "ENSG00000164258" } }, "GRch38": { "90": { "location": "5:53560633-53683340", "ensembl_id": "ENSG00000164258" } } }, "hgnc_date_symbol_changed": "1995-11-08" }, "entity_type": "gene", "entity_name": "NDUFS4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "MetBioNet", "NHS GMS" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 1, 252010" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.231", "version_created": "2026-04-28T11:37:58.412234+10:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ABL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7467", "gene_name": "microsomal triglyceride transfer protein", "omim_gene": [ "157147" ], "alias_name": null, "gene_symbol": "MTTP", "hgnc_symbol": "MTTP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:100484918-100545156", "ensembl_id": "ENSG00000138823" } }, "GRch38": { "90": { "location": "4:99563761-99623999", "ensembl_id": "ENSG00000138823" } } }, "hgnc_date_symbol_changed": "2005-11-04" }, "entity_type": "gene", "entity_name": "MTTP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Abetalipoproteinaemia" ], "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": [ "NET" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11048", "gene_name": "solute carrier family 6 member 2", "omim_gene": [ "163970" ], "alias_name": [ "norepinephrine transporter" ], "gene_symbol": "SLC6A2", "hgnc_symbol": "SLC6A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:55689516-55740104", "ensembl_id": "ENSG00000103546" } }, "GRch38": { "90": { "location": "16:55655604-55706192", "ensembl_id": "ENSG00000103546" } } }, "hgnc_date_symbol_changed": "1994-03-16" }, "entity_type": "gene", "entity_name": "SLC6A2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Orthostatic intolerance" ], "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": [ "DFNB95" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18183", "gene_name": "GIPC PDZ domain containing family member 3", "omim_gene": [ "608792" ], "alias_name": null, "gene_symbol": "GIPC3", "hgnc_symbol": "GIPC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:3585551-3593539", "ensembl_id": "ENSG00000179855" } }, "GRch38": { "90": { "location": "19:3585553-3593541", "ensembl_id": "ENSG00000179855" } } }, "hgnc_date_symbol_changed": "2005-06-28" }, "entity_type": "gene", "entity_name": "GIPC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Hearing loss" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1967", "gene_name": "cholinergic receptor nicotinic gamma subunit", "omim_gene": [ "100730" ], "alias_name": [ "acetylcholine receptor, nicotinic, gamma (muscle)" ], "gene_symbol": "CHRNG", "hgnc_symbol": "CHRNG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:233404437-233411113", "ensembl_id": "ENSG00000196811" } }, "GRch38": { "90": { "location": "2:232539727-232546403", "ensembl_id": "ENSG00000196811" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "CHRNG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Pterygium syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "merlin", "ACN", "SCH", "BANF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7773", "gene_name": "neurofibromin 2", "omim_gene": [ "607379" ], "alias_name": [ "moesin-ezrin-radixin like", "schwannomin" ], "gene_symbol": "NF2", "hgnc_symbol": "NF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29999545-30094587", "ensembl_id": "ENSG00000186575" } }, "GRch38": { "90": { "location": "22:29603556-29698598", "ensembl_id": "ENSG00000186575" } } }, "hgnc_date_symbol_changed": "1992-01-01" }, "entity_type": "gene", "entity_name": "NF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29409008" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Schwannomatosis, somatic 162091", "Meningioma, NF2-related, somatic 607174", "Neurofibromatosis, type 2 101000" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "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": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NTE", "sws", "iPLA2delta", "SPG39" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16268", "gene_name": "patatin like phospholipase domain containing 6", "omim_gene": [ "603197" ], "alias_name": [ "neuropathy target esterase" ], "gene_symbol": "PNPLA6", "hgnc_symbol": "PNPLA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:7598890-7626650", "ensembl_id": "ENSG00000032444" } }, "GRch38": { "90": { "location": "19:7534004-7561764", "ensembl_id": "ENSG00000032444" } } }, "hgnc_date_symbol_changed": "2006-07-05" }, "entity_type": "gene", "entity_name": "PNPLA6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25480986", "33818269", "32758583", "30097146" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Oliver-McFarlane syndrome, MIM# 275400", "Laurence-Moon syndrome, MIM# 245800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.107", "version_created": "2026-04-30T15:03:50.139368+10:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HGF", "GF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11187", "gene_name": "SOS Ras/Rac guanine nucleotide exchange factor 1", "omim_gene": [ "182530" ], "alias_name": null, "gene_symbol": "SOS1", "hgnc_symbol": "SOS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:39208537-39351486", "ensembl_id": "ENSG00000115904" } }, "GRch38": { "90": { "location": "2:38981396-39124345", "ensembl_id": "ENSG00000115904" } } }, "hgnc_date_symbol_changed": "1993-10-27" }, "entity_type": "gene", "entity_name": "SOS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "17143285", "17586837", "17143282", "19438935" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Noonan syndrome 4, MIM# 610733" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.107", "version_created": "2026-04-30T15:03:50.139368+10:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "B120", "P270", "C10rf4", "BAF250", "BAF250a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11110", "gene_name": "AT-rich interaction domain 1A", "omim_gene": [ "603024" ], "alias_name": null, "gene_symbol": "ARID1A", "hgnc_symbol": "ARID1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:27022524-27108595", "ensembl_id": "ENSG00000117713" } }, "GRch38": { "90": { "location": "1:26693236-26782104", "ensembl_id": "ENSG00000117713" } } }, "hgnc_date_symbol_changed": "2004-01-30" }, "entity_type": "gene", "entity_name": "ARID1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Coffin-Siris" ], "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:2867", "gene_name": "dihydroorotate dehydrogenase (quinone)", "omim_gene": [ "126064" ], "alias_name": null, "gene_symbol": "DHODH", "hgnc_symbol": "DHODH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:72042487-72058954", "ensembl_id": "ENSG00000102967" } }, "GRch38": { "90": { "location": "16:72008588-72027664", "ensembl_id": "ENSG00000102967" } } }, "hgnc_date_symbol_changed": "1993-06-29" }, "entity_type": "gene", "entity_name": "DHODH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert Review Green", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Miller syndrome (postaxial acrofacial dysostosis) 263750" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [ "PKND" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2536", "gene_name": "cathepsin K", "omim_gene": [ "601105" ], "alias_name": null, "gene_symbol": "CTSK", "hgnc_symbol": "CTSK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:150768684-150780799", "ensembl_id": "ENSG00000143387" } }, "GRch38": { "90": { "location": "1:150796208-150808323", "ensembl_id": "ENSG00000143387" } } }, "hgnc_date_symbol_changed": "1995-05-11" }, "entity_type": "gene", "entity_name": "CTSK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Pycnodysostosis, MIM# 265800" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12660", "IND1", "huInd1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20278", "gene_name": "nucleotide binding protein like", "omim_gene": [ "613621" ], "alias_name": [ "iron-sulfur protein required for NADH dehydrogenase" ], "gene_symbol": "NUBPL", "hgnc_symbol": "NUBPL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:31959162-32330430", "ensembl_id": "ENSG00000151413" } }, "GRch38": { "90": { "location": "14:31489956-31861224", "ensembl_id": "ENSG00000151413" } } }, "hgnc_date_symbol_changed": "2005-01-07" }, "entity_type": "gene", "entity_name": "NUBPL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29982452" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242)" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BIGM103" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20862", "gene_name": "solute carrier family 39 member 8", "omim_gene": [ "608732" ], "alias_name": null, "gene_symbol": "SLC39A8", "hgnc_symbol": "SLC39A8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:103172198-103352415", "ensembl_id": "ENSG00000138821" } }, "GRch38": { "90": { "location": "4:102251041-102431258", "ensembl_id": "ENSG00000138821" } } }, "hgnc_date_symbol_changed": "2003-10-08" }, "entity_type": "gene", "entity_name": "SLC39A8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26637978", "26637979" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIn , MIM#616721" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDHP", "PCAD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1762", "gene_name": "cadherin 3", "omim_gene": [ "114021" ], "alias_name": [ "P-cadherin" ], "gene_symbol": "CDH3", "hgnc_symbol": "CDH3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:68670092-68756519", "ensembl_id": "ENSG00000062038" } }, "GRch38": { "90": { "location": "16:68636189-68722616", "ensembl_id": "ENSG00000062038" } } }, "hgnc_date_symbol_changed": "1992-07-10" }, "entity_type": "gene", "entity_name": "CDH3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15805154", "22140374" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD51" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6150", "gene_name": "integrin subunit alpha V", "omim_gene": [ "193210" ], "alias_name": null, "gene_symbol": "ITGAV", "hgnc_symbol": "ITGAV", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:187454792-187545628", "ensembl_id": "ENSG00000138448" } }, "GRch38": { "90": { "location": "2:186590065-186680901", "ensembl_id": "ENSG00000138448" } } }, "hgnc_date_symbol_changed": "1988-07-19" }, "entity_type": "gene", "entity_name": "ITGAV", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39526957" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TEL1", "TELO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:795", "gene_name": "ATM serine/threonine kinase", "omim_gene": [ "607585" ], "alias_name": [ "TEL1, telomere maintenance 1, homolog (S. cerevisiae)" ], "gene_symbol": "ATM", "hgnc_symbol": "ATM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:108093211-108239829", "ensembl_id": "ENSG00000149311" } }, "GRch38": { "90": { "location": "11:108222484-108369102", "ensembl_id": "ENSG00000149311" } } }, "hgnc_date_symbol_changed": "1995-07-07" }, "entity_type": "gene", "entity_name": "ATM", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Ataxia-telangiectasia, MIM# 208900" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14934", "gene_name": "sirtuin 6", "omim_gene": [ "606211" ], "alias_name": null, "gene_symbol": "SIRT6", "hgnc_symbol": "SIRT6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:4174106-4182601", "ensembl_id": "ENSG00000077463" } }, "GRch38": { "90": { "location": "19:4174109-4182604", "ensembl_id": "ENSG00000077463" } } }, "hgnc_date_symbol_changed": "2001-03-20" }, "entity_type": "gene", "entity_name": "SIRT6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29555651", "30135584" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "syndromic disease, MONDO:0002254, SIRT6-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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp762G094", "FLJ22028" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26162", "gene_name": "pyridine nucleotide-disulphide oxidoreductase domain 1", "omim_gene": [ "617220" ], "alias_name": null, "gene_symbol": "PYROXD1", "hgnc_symbol": "PYROXD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:21590549-21623300", "ensembl_id": "ENSG00000121350" } }, "GRch38": { "90": { "location": "12:21437615-21471252", "ensembl_id": "ENSG00000121350" } } }, "hgnc_date_symbol_changed": "2007-08-02" }, "entity_type": "gene", "entity_name": "PYROXD1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30345904", "30515627", "27745833" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Myopathy, myofibrillar, 8 (MIM#617258)" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SPANK-2", "prosap2", "KIAA1650", "PSAP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14294", "gene_name": "SH3 and multiple ankyrin repeat domains 3", "omim_gene": [ "606230" ], "alias_name": [ "proline rich synapse associated protein 2", "shank postsynaptic density protein" ], "gene_symbol": "SHANK3", "hgnc_symbol": "SHANK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:51112843-51171726", "ensembl_id": "ENSG00000251322" } }, "GRch38": { "90": { "location": "22:50674415-50733298", "ensembl_id": "ENSG00000251322" } } }, "hgnc_date_symbol_changed": "2002-02-22" }, "entity_type": "gene", "entity_name": "SHANK3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16284256", "17173049", "20186804", "22892527" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Phelan-McDermid syndrome, MONDO:0011652", "Phelan-McDermid syndrome, OMIM:606232" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nM15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6814", "gene_name": "MAGE family member L2", "omim_gene": [ "605283" ], "alias_name": null, "gene_symbol": "MAGEL2", "hgnc_symbol": "MAGEL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:23888691-23891175", "ensembl_id": "ENSG00000254585" } }, "GRch38": { "90": { "location": "15:23643544-23647841", "ensembl_id": "ENSG00000254585" } } }, "hgnc_date_symbol_changed": "1999-10-29" }, "entity_type": "gene", "entity_name": "MAGEL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30238631", "24076603", "27195816" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Schaaf-Yang syndrome, MIM# 615547", "Obesity" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)", "tags": [], "panel": { "id": 3764, "hash_id": null, "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.", "status": "public", "version": "1.32", "version_created": "2026-04-20T20:39:13.285624+10:00", "relevant_disorders": [ "Obesity", "HP:0001513" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NPHS5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6487", "gene_name": "laminin subunit beta 2", "omim_gene": [ "150325" ], "alias_name": [ "laminin S" ], "gene_symbol": "LAMB2", "hgnc_symbol": "LAMB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49158547-49170551", "ensembl_id": "ENSG00000172037" } }, "GRch38": { "90": { "location": "3:49121114-49133118", "ensembl_id": "ENSG00000172037" } } }, "hgnc_date_symbol_changed": "1992-05-06" }, "entity_type": "gene", "entity_name": "LAMB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Pierson syndrome, MIM# 609049", "Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "bA465L10.2", "NIF-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15807", "gene_name": "zinc finger protein 335", "omim_gene": [ "610827" ], "alias_name": [ "NRC-interacting factor 1" ], "gene_symbol": "ZNF335", "hgnc_symbol": "ZNF335", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:44577292-44600833", "ensembl_id": "ENSG00000198026" } }, "GRch38": { "90": { "location": "20:45948653-45972172", "ensembl_id": "ENSG00000198026" } } }, "hgnc_date_symbol_changed": "2001-09-17" }, "entity_type": "gene", "entity_name": "ZNF335", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "38549403", "27540107", "29652087", "34982360" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly 10, primary, autosomal recessive, MIM# 615095" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OCIF", "TR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11909", "gene_name": "TNF receptor superfamily member 11b", "omim_gene": [ "602643" ], "alias_name": null, "gene_symbol": "TNFRSF11B", "hgnc_symbol": "TNFRSF11B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:119935796-119964439", "ensembl_id": "ENSG00000164761" } }, "GRch38": { "90": { "location": "8:118923557-118952200", "ensembl_id": "ENSG00000164761" } } }, "hgnc_date_symbol_changed": "1997-09-05" }, "entity_type": "gene", "entity_name": "TNFRSF11B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25108083", "34166796", "29080812", "14672344" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Paget disease of bone 5, juvenile-onset MIM#239000" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZO-2", "X104", "ZO2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11828", "gene_name": "tight junction protein 2", "omim_gene": [ "607709" ], "alias_name": [ "Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2" ], "gene_symbol": "TJP2", "hgnc_symbol": "TJP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:71736209-71870124", "ensembl_id": "ENSG00000119139" } }, "GRch38": { "90": { "location": "9:69121264-69255208", "ensembl_id": "ENSG00000119139" } } }, "hgnc_date_symbol_changed": "1999-07-01" }, "entity_type": "gene", "entity_name": "TJP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24614073", "31696999" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cholestasis, progressive familial intrahepatic 4, MIM# 615878" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8512", "gene_name": "ornithine carbamoyltransferase", "omim_gene": [ "300461" ], "alias_name": null, "gene_symbol": "OTC", "hgnc_symbol": "OTC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:38211798-38280703", "ensembl_id": "ENSG00000036473" } }, "GRch38": { "90": { "location": "X:38352545-38421450", "ensembl_id": "ENSG00000036473" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "OTC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26059767", "31441224", "25135652" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ornithine transcarbamylase deficiency, MIM# 311250" ], "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": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12716", "gry", "foigr" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25751", "gene_name": "trafficking protein particle complex 11", "omim_gene": [ "614138" ], "alias_name": [ "gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)" ], "gene_symbol": "TRAPPC11", "hgnc_symbol": "TRAPPC11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:184580420-184634745", "ensembl_id": "ENSG00000168538" } }, "GRch38": { "90": { "location": "4:183659267-183713594", "ensembl_id": "ENSG00000168538" } } }, "hgnc_date_symbol_changed": "2011-12-12" }, "entity_type": "gene", "entity_name": "TRAPPC11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23830518", "26322222", "29855340", "30105108", "38564972" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, type 2S, 615356 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "XH2", "XNP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:886", "gene_name": "ATRX, chromatin remodeler", "omim_gene": [ "300032", "300504" ], "alias_name": [ "RAD54 homolog (S. cerevisiae)" ], "gene_symbol": "ATRX", "hgnc_symbol": "ATRX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:76760356-77041702", "ensembl_id": "ENSG00000085224" } }, "GRch38": { "90": { "location": "X:77504878-77786269", "ensembl_id": "ENSG00000085224" } } }, "hgnc_date_symbol_changed": "1992-11-27" }, "entity_type": "gene", "entity_name": "ATRX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16813605", "16955409", "15350606", "23681356" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "ATR-X-related syndrome MONDO:0016980" ], "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": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5005", "gene_name": "3-hydroxymethyl-3-methylglutaryl-CoA lyase", "omim_gene": [ "613898" ], "alias_name": [ "hydroxymethylglutaricaciduria" ], "gene_symbol": "HMGCL", "hgnc_symbol": "HMGCL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24128375-24165110", "ensembl_id": "ENSG00000117305" } }, "GRch38": { "90": { "location": "1:23801885-23838620", "ensembl_id": "ENSG00000117305" } } }, "hgnc_date_symbol_changed": "1993-12-13" }, "entity_type": "gene", "entity_name": "HMGCL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29152456", "8617516" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "3-hydroxy-3-methylglutaric aciduria MONDO:0009520" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "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": [ "MADR2", "JV18-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6768", "gene_name": "SMAD family member 2", "omim_gene": [ "601366" ], "alias_name": null, "gene_symbol": "SMAD2", "hgnc_symbol": "SMAD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:45357922-45457515", "ensembl_id": "ENSG00000175387" } }, "GRch38": { "90": { "location": "18:47808957-47931146", "ensembl_id": "ENSG00000175387" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "SMAD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Loeys-Dietz syndrome 6, MIM# 619656" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "cardiac", "treatable" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RECQL2", "RECQ3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12791", "gene_name": "Werner syndrome RecQ like helicase", "omim_gene": [ "604611" ], "alias_name": null, "gene_symbol": "WRN", "hgnc_symbol": "WRN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:30891317-31031285", "ensembl_id": "ENSG00000165392" } }, "GRch38": { "90": { "location": "8:31033801-31173769", "ensembl_id": "ENSG00000165392" } } }, "hgnc_date_symbol_changed": "1991-08-21" }, "entity_type": "gene", "entity_name": "WRN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301687" ], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Werner syndrome MIM#277700" ], "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": [ "AAKG", "AAKG2", "H91620p", "WPWS", "CMH6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9386", "gene_name": "protein kinase AMP-activated non-catalytic subunit gamma 2", "omim_gene": [ "602743" ], "alias_name": [ "AMPK gamma2" ], "gene_symbol": "PRKAG2", "hgnc_symbol": "PRKAG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:151253197-151574210", "ensembl_id": "ENSG00000106617" } }, "GRch38": { "90": { "location": "7:151556111-151877125", "ensembl_id": "ENSG00000106617" } } }, "hgnc_date_symbol_changed": "1997-05-09" }, "entity_type": "gene", "entity_name": "PRKAG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30681346" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cardiomyopathy, hypertrophic 6, MIM# 600858" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCA31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11831", "gene_name": "thymidine kinase 2, mitochondrial", "omim_gene": [ "188250" ], "alias_name": null, "gene_symbol": "TK2", "hgnc_symbol": "TK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:66541906-66586447", "ensembl_id": "ENSG00000166548" } }, "GRch38": { "90": { "location": "16:66508003-66552544", "ensembl_id": "ENSG00000166548" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23230576" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560" ], "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": "2.1", "version_created": "2026-04-24T17:01:18.976102+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:362", "gene_name": "adenylate kinase 2", "omim_gene": [ "103020" ], "alias_name": null, "gene_symbol": "AK2", "hgnc_symbol": "AK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:33473585-33546597", "ensembl_id": "ENSG00000004455" } }, "GRch38": { "90": { "location": "1:33007940-33080996", "ensembl_id": "ENSG00000004455" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "AK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19043416", "19043417" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Reticular dysgenesis MIM# 267500" ], "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": "2.1", "version_created": "2026-04-24T17:01:18.976102+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OPCA3", "ADCAII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10560", "gene_name": "ataxin 7", "omim_gene": [ "607640" ], "alias_name": null, "gene_symbol": "ATXN7", "hgnc_symbol": "ATXN7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:63850233-63989138", "ensembl_id": "ENSG00000163635" } }, "GRch38": { "90": { "location": "3:63864557-64003462", "ensembl_id": "ENSG00000163635" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "str", "entity_name": "ATXN7_SCA7_CAG", "confidence_level": "3", "penetrance": null, "publications": [ "29325606", "20301433" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 7 MIM#164500" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "3", "grch37_coordinates": [ 63898362, 63898391 ], "grch38_coordinates": [ 63912686, 63912715 ], "normal_repeats": 27, "pathogenic_repeats": 37, "tags": [], "panel": { "id": 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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [] } }, { "gene_data": { "alias": [ "BMD", "DXS142", "DXS164", "DXS206", "DXS230", "DXS239", "DXS268", "DXS269", "DXS270", "DXS272" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2928", "gene_name": "dystrophin", "omim_gene": [ "300377" ], "alias_name": [ "muscular dystrophy, Duchenne and Becker types" ], "gene_symbol": "DMD", "hgnc_symbol": "DMD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:31115794-33357558", "ensembl_id": "ENSG00000198947" } }, "GRch38": { "90": { "location": "X:31097677-33339441", "ensembl_id": "ENSG00000198947" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "str", "entity_name": "DMD_DMD_GAA", "confidence_level": "2", "penetrance": null, "publications": [ "27417533", "36048237" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Duchenne muscular dystrophy MIM#310200", "Becker muscular dystrophy MIM#300376" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "repeated_sequence": "GAA", "chromosome": "X", "grch37_coordinates": [ 31302674, 31302722 ], "grch38_coordinates": [ 31284557, 31284605 ], "normal_repeats": 33, "pathogenic_repeats": 59, "tags": [ "adult-onset", "paediatric-onset" ], "panel": { "id": 3597, "hash_id": null, "name": "Repeat Disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.", "status": "public", "version": "0.272", "version_created": "2026-01-02T15:16:39.779953+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 76, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] } }, { "gene_data": { "alias": [], "biotype": "antisense_RNA", "hgnc_id": "HGNC:51204", "gene_name": "NUTM2B antisense RNA 1", "omim_gene": null, "alias_name": null, "gene_symbol": "NUTM2B-AS1", "hgnc_symbol": "NUTM2B-AS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:81563813-81586350", "ensembl_id": "ENSG00000225484" } }, "GRch38": { "90": { "location": "10:79663088-79826594", "ensembl_id": "ENSG00000225484" } } }, "hgnc_date_symbol_changed": "2014-08-07" }, "entity_type": "str", "entity_name": "NUTM2B-AS1_OPDM_CCG", "confidence_level": "3", "penetrance": null, "publications": [ "31332380" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CCG", "chromosome": "10", "grch37_coordinates": [ 81586142, 81586159 ], "grch38_coordinates": [ 79826386, 79826403 ], "normal_repeats": 16, "pathogenic_repeats": 35, "tags": [ "adult-onset" ], "panel": { "id": 3597, "hash_id": null, "name": "Repeat Disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.", "status": "public", "version": "0.272", "version_created": "2026-01-02T15:16:39.779953+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 76, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] } } ] }