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GET /api/v1/entities/?format=api&page=281
{ "count": 36038, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=282", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=280", "results": [ { "gene_data": { "alias": [ "D12S1889", "NKHC", "MY050" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6323", "gene_name": "kinesin family member 5A", "omim_gene": [ "602821" ], "alias_name": null, "gene_symbol": "KIF5A", "hgnc_symbol": "KIF5A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:57943781-57980415", "ensembl_id": "ENSG00000155980" } }, "GRch38": { "90": { "location": "12:57549998-57586632", "ensembl_id": "ENSG00000155980" } } }, "hgnc_date_symbol_changed": "1998-08-24" }, "entity_type": "gene", "entity_name": "KIF5A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29342275", "30301576", "29566793" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4879", "gene_name": "hexosaminidase subunit beta", "omim_gene": [ "606873" ], "alias_name": [ "beta-hexosaminidase subunit beta" ], "gene_symbol": "HEXB", "hgnc_symbol": "HEXB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:73935848-74018472", "ensembl_id": "ENSG00000049860" } }, "GRch38": { "90": { "location": "5:74640023-74722647", "ensembl_id": "ENSG00000049860" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HEXB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31995250", "24263030" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Sandhoff disease, infantile, juvenile, and adult forms MIM#268800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "D2LIC", "LIC3", "CGI-60", "DKFZP564A033" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24595", "gene_name": "dynein cytoplasmic 2 light intermediate chain 1", "omim_gene": [ "617083" ], "alias_name": null, "gene_symbol": "DYNC2LI1", "hgnc_symbol": "DYNC2LI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:44001178-44037149", "ensembl_id": "ENSG00000138036" } }, "GRch38": { "90": { "location": "2:43774039-43810010", "ensembl_id": "ENSG00000138036" } } }, "hgnc_date_symbol_changed": "2005-11-29" }, "entity_type": "gene", "entity_name": "DYNC2LI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Expert Review Green", "Melbourne Genomics Health Alliance Perinatal Autopsy Flagship" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.246", "version_created": "2026-03-02T10:22:48.751874+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dJ482C21.1", "NET25" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21244", "gene_name": "LEM domain containing 2", "omim_gene": [ "616312" ], "alias_name": null, "gene_symbol": "LEMD2", "hgnc_symbol": "LEMD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33738979-33756913", "ensembl_id": "ENSG00000161904" } }, "GRch38": { "90": { "location": "6:33771202-33789136", "ensembl_id": "ENSG00000161904" } } }, "hgnc_date_symbol_changed": "2003-05-29" }, "entity_type": "gene", "entity_name": "LEMD2", "confidence_level": "2", "penetrance": "Incomplete", "mode_of_pathogenicity": null, "publications": [ "31061923", "26788539", "30905398", "36377660" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 48, "hash_id": null, "name": "Arrhythmogenic Cardiomyopathy", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Arrhythmogenic Cardiomyopathy' panel and against the current gene-disease curations by the ClinGen ARVC group, 03/08/2020.", "status": "public", "version": "1.0", "version_created": "2026-03-24T16:23:29.666707+11:00", "relevant_disorders": [ "Arrhythmia", "HP:0011675;Cardiomyopathy", "HP:0001638" ], "stats": { "number_of_genes": 19, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8653", "gene_name": "propionyl-CoA carboxylase alpha subunit", "omim_gene": [ "232000" ], "alias_name": null, "gene_symbol": "PCCA", "hgnc_symbol": "PCCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:100741269-101182686", "ensembl_id": "ENSG00000175198" } }, "GRch38": { "90": { "location": "13:100089015-100530437", "ensembl_id": "ENSG00000175198" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PCCA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.248", "version_created": "2026-03-19T12:51:18.584438+11:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GAT1", "GABATR", "GABATHG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11042", "gene_name": "solute carrier family 6 member 1", "omim_gene": [ "137165" ], "alias_name": [ "GABA transporter 1" ], "gene_symbol": "SLC6A1", "hgnc_symbol": "SLC6A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:11034410-11080933", "ensembl_id": "ENSG00000157103" } }, "GRch38": { "90": { "location": "3:10992724-11039247", "ensembl_id": "ENSG00000157103" } } }, "hgnc_date_symbol_changed": "1994-02-16" }, "entity_type": "gene", "entity_name": "SLC6A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29315614" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myoclonic-atonic epilepsy, MIM#616421" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.248", "version_created": "2026-03-19T12:51:18.584438+11:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD110", "TPOR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7217", "gene_name": "MPL proto-oncogene, thrombopoietin receptor", "omim_gene": [ "159530" ], "alias_name": null, "gene_symbol": "MPL", "hgnc_symbol": "MPL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:43803478-43818443", "ensembl_id": "ENSG00000117400" } }, "GRch38": { "90": { "location": "1:43337849-43352772", "ensembl_id": "ENSG00000117400" } } }, "hgnc_date_symbol_changed": "1990-09-10" }, "entity_type": "gene", "entity_name": "MPL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28955303", "26423830" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myelofibrosis with myeloid metaplasia, somatic, MIM#254450", "Thrombocythemia 2, MIM#601977, AD, SMu", "Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 56, "hash_id": null, "name": "Bone Marrow Failure", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.", "status": "public", "version": "1.141", "version_created": "2026-03-17T18:48:23.244194+11:00", "relevant_disorders": [ "Abnormality of multiple cell lineages of the bone marrow", "HP:0012145" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0806" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20889", "gene_name": "leucine rich repeats and immunoglobulin like domains 2", "omim_gene": [ "608869" ], "alias_name": null, "gene_symbol": "LRIG2", "hgnc_symbol": "LRIG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:113615831-113674882", "ensembl_id": "ENSG00000198799" } }, "GRch38": { "90": { "location": "1:113073209-113132260", "ensembl_id": "ENSG00000198799" } } }, "hgnc_date_symbol_changed": "2003-04-25" }, "entity_type": "gene", "entity_name": "LRIG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23313374", "27855655", "30885509" ], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [ "Urofacial syndrome 2, MIM# 615112" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 63, "hash_id": null, "name": "Congenital anomalies of the kidney and urinary tract (CAKUT)", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).", "status": "public", "version": "0.204", "version_created": "2026-03-19T13:24:30.325727+11:00", "relevant_disorders": [ "Abnormality of the urinary system HP:0000079" ], "stats": { "number_of_genes": 124, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "O-GLCNAC", "HRNT1", "MGC22921", "FLJ23071", "OGT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8127", "gene_name": "O-linked N-acetylglucosamine (GlcNAc) transferase", "omim_gene": [ "300255" ], "alias_name": [ "UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase" ], "gene_symbol": "OGT", "hgnc_symbol": "OGT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:70752933-70795747", "ensembl_id": "ENSG00000147162" } }, "GRch38": { "90": { "location": "X:71533083-71575897", "ensembl_id": "ENSG00000147162" } } }, "hgnc_date_symbol_changed": "1998-12-03" }, "entity_type": "gene", "entity_name": "OGT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28302723", "28584052", "31296563", "31627256", "29769320", "29606577" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Mental retardation, X-linked 106, MIM#\t300997" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 68, "hash_id": null, "name": "Congenital Disorders of Glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.85", "version_created": "2026-04-02T10:46:27.496905+11:00", "relevant_disorders": [ "Abnormal transferrin saturation", "HP:0040135" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IGDS", "RS", "Brx1", "Otlx2", "ARP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9005", "gene_name": "paired like homeodomain 2", "omim_gene": [ "601542" ], "alias_name": null, "gene_symbol": "PITX2", "hgnc_symbol": "PITX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:111538579-111563279", "ensembl_id": "ENSG00000164093" } }, "GRch38": { "90": { "location": "4:110617423-110642123", "ensembl_id": "ENSG00000164093" } } }, "hgnc_date_symbol_changed": "1992-10-05" }, "entity_type": "gene", "entity_name": "PITX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8944018", "31185933", "29023440" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Axenfeld-Rieger syndrome, type 1, MIM# 180500" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 105, "hash_id": null, "name": "Glaucoma congenital", "disease_group": "Ophthalmological 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 'Glaucoma (developmental)' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England, 7/8/2020.", "status": "public", "version": "1.12", "version_created": "2026-04-07T13:50:17.268940+10:00", "relevant_disorders": [ "Glaucoma", "HP:0000501" ], "stats": { "number_of_genes": 28, "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": [ "FGE", "UNQ3037" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20376", "gene_name": "sulfatase modifying factor 1", "omim_gene": [ "607939" ], "alias_name": null, "gene_symbol": "SUMF1", "hgnc_symbol": "SUMF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:3742498-4508965", "ensembl_id": "ENSG00000144455" } }, "GRch38": { "90": { "location": "3:3700814-4467281", "ensembl_id": "ENSG00000144455" } } }, "hgnc_date_symbol_changed": "2004-04-30" }, "entity_type": "gene", "entity_name": "SUMF1", "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": [ "querkopf", "qkf", "Morf", "MOZ2", "ZC2HC6B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17582", "gene_name": "lysine acetyltransferase 6B", "omim_gene": [ "605880" ], "alias_name": [ "MOZ-related factor" ], "gene_symbol": "KAT6B", "hgnc_symbol": "KAT6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:76585340-76792380", "ensembl_id": "ENSG00000156650" } }, "GRch38": { "90": { "location": "10:74825582-75032622", "ensembl_id": "ENSG00000156650" } } }, "hgnc_date_symbol_changed": "2011-07-21" }, "entity_type": "gene", "entity_name": "KAT6B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Other" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 116, "hash_id": null, "name": "Hydrops fetalis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.", "status": "public", "version": "0.328", "version_created": "2025-07-08T23:27:02.854141+10:00", "relevant_disorders": [ "Hydrops fetalis", "HP:0001789" ], "stats": { "number_of_genes": 169, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8896", "gene_name": "phosphoglycerate kinase 1", "omim_gene": [ "311800" ], "alias_name": null, "gene_symbol": "PGK1", "hgnc_symbol": "PGK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:77320685-77384793", "ensembl_id": "ENSG00000102144" } }, "GRch38": { "90": { "location": "X:78065188-78129296", "ensembl_id": "ENSG00000102144" } } }, "hgnc_date_symbol_changed": "1989-04-24" }, "entity_type": "gene", "entity_name": "PGK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "6933565", "1547346", "7577653", "9512313" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Phosphoglycerate kinase 1 deficiency, MIM# 300653", "MONDO:0010392" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10640", "KIAA1933" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25557", "gene_name": "protein arginine methyltransferase 7", "omim_gene": [ "610087" ], "alias_name": null, "gene_symbol": "PRMT7", "hgnc_symbol": "PRMT7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:68344877-68392466", "ensembl_id": "ENSG00000132600" } }, "GRch38": { "90": { "location": "16:68310974-68358563", "ensembl_id": "ENSG00000132600" } } }, "hgnc_date_symbol_changed": "2006-02-16" }, "entity_type": "gene", "entity_name": "PRMT7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26437029", "27718516", "30513135" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C1IN", "C1-INH", "HAE1", "HAE2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1228", "gene_name": "serpin family G member 1", "omim_gene": [ "606860" ], "alias_name": [ "plasma protease C1 inhibitor", "angioedema, hereditary" ], "gene_symbol": "SERPING1", "hgnc_symbol": "SERPING1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:57364860-57382326", "ensembl_id": "ENSG00000149131" } }, "GRch38": { "90": { "location": "11:57597387-57614853", "ensembl_id": "ENSG00000149131" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "SERPING1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "35386643", "31517426", "29753808" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Angioedema, hereditary, 1 and 2, MIM#106100", "Complement component 4, partial deficiency of, MIM#120790" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HsT1341", "RACH1", "RACH2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10918", "gene_name": "solute carrier family 14 member 1 (Kidd blood group)", "omim_gene": [ "613868" ], "alias_name": null, "gene_symbol": "SLC14A1", "hgnc_symbol": "SLC14A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:43304092-43332485", "ensembl_id": "ENSG00000141469" } }, "GRch38": { "90": { "location": "18:45724127-45752520", "ensembl_id": "ENSG00000141469" } } }, "hgnc_date_symbol_changed": "1994-02-15" }, "entity_type": "gene", "entity_name": "SLC14A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28065763", "27834480" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "[Blood group, Kidd], MIM#111000" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TGASE", "TGK", "LI", "LI1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11777", "gene_name": "transglutaminase 1", "omim_gene": [ "190195" ], "alias_name": [ "K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase" ], "gene_symbol": "TGM1", "hgnc_symbol": "TGM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:24718320-24733638", "ensembl_id": "ENSG00000092295" } }, "GRch38": { "90": { "location": "14:24249114-24264432", "ensembl_id": "ENSG00000092295" } } }, "hgnc_date_symbol_changed": "1990-05-25" }, "entity_type": "gene", "entity_name": "TGM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19890349", "24261627", "30302839" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ichthyosis, congenital, autosomal recessive 1, MIM#242300" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "D6S81E", "UAP56" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13917", "gene_name": "DExD-box helicase 39B", "omim_gene": [ "142560" ], "alias_name": [ "U2AF65-associated protein 56" ], "gene_symbol": "DDX39B", "hgnc_symbol": "DDX39B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31497996-31510225", "ensembl_id": "ENSG00000198563" } }, "GRch38": { "90": { "location": "6:31530219-31542448", "ensembl_id": "ENSG00000198563" } } }, "hgnc_date_symbol_changed": "2011-02-08" }, "entity_type": "gene", "entity_name": "DDX39B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39918047" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, DDX39B-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "U6-2" ], "biotype": "snRNA", "hgnc_id": "HGNC:34270", "gene_name": "RNA, U6 small nuclear 2", "omim_gene": null, "alias_name": null, "gene_symbol": "RNU6-2", "hgnc_symbol": "RNU6-2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:1021521-1021627", "ensembl_id": "ENSG00000207357" } }, "GRch38": { "90": { "location": "19:1021522-1021628", "ensembl_id": "ENSG00000207357" } } }, "hgnc_date_symbol_changed": "2013-05-01" }, "entity_type": "gene", "entity_name": "RNU6-2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39830270" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Retinitis pigmentosa MONDO:0019200, RNU6-2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZP564L0862", "MGC4954", "FLJ20636" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17184", "gene_name": "ankyrin repeat and SOCS box containing 9", "omim_gene": [ "300890" ], "alias_name": null, "gene_symbol": "ASB9", "hgnc_symbol": "ASB9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:15253410-15288589", "ensembl_id": "ENSG00000102048" } }, "GRch38": { "90": { "location": "X:15235288-15270467", "ensembl_id": "ENSG00000102048" } } }, "hgnc_date_symbol_changed": "2001-12-05" }, "entity_type": "gene", "entity_name": "ASB9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41730923" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Infertility disorder, MONDO:0005047, ASB9-related" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Ringo2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32681", "gene_name": "speedy/RINGO cell cycle regulator family member C", "omim_gene": [ "614030" ], "alias_name": null, "gene_symbol": "SPDYC", "hgnc_symbol": "SPDYC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64937625-64940715", "ensembl_id": "ENSG00000204710" } }, "GRch38": { "90": { "location": "11:65170154-65173244", "ensembl_id": "ENSG00000204710" } } }, "hgnc_date_symbol_changed": "2006-03-31" }, "entity_type": "gene", "entity_name": "SPDYC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41005306" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Primary ovarian failure, MONDO:0005387" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3771", "gene_name": "flavin containing monooxygenase 3", "omim_gene": [ "136132" ], "alias_name": null, "gene_symbol": "FMO3", "hgnc_symbol": "FMO3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:171060018-171086959", "ensembl_id": "ENSG00000007933" } }, "GRch38": { "90": { "location": "1:171090877-171117819", "ensembl_id": "ENSG00000007933" } } }, "hgnc_date_symbol_changed": "1992-10-16" }, "entity_type": "gene", "entity_name": "FMO3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28649550", "31240165" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Trimethylaminuria, MIM#602079" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5967", "gene_name": "interleukin 11 receptor subunit alpha", "omim_gene": [ "600939" ], "alias_name": null, "gene_symbol": "IL11RA", "hgnc_symbol": "IL11RA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:34650699-34661889", "ensembl_id": "ENSG00000137070" } }, "GRch38": { "90": { "location": "9:34650702-34661892", "ensembl_id": "ENSG00000137070" } } }, "hgnc_date_symbol_changed": "1995-08-10" }, "entity_type": "gene", "entity_name": "IL11RA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21741611", "32277509", "30811827", "29926465", "24498618" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Craniosynostosis and dental anomalies, MIM# 614188" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0042" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19181", "gene_name": "kinesin family member 14", "omim_gene": [ "611279" ], "alias_name": null, "gene_symbol": "KIF14", "hgnc_symbol": "KIF14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:200520628-200589862", "ensembl_id": "ENSG00000118193" } }, "GRch38": { "90": { "location": "1:200551497-200620734", "ensembl_id": "ENSG00000118193" } } }, "hgnc_date_symbol_changed": "2002-09-12" }, "entity_type": "gene", "entity_name": "KIF14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28892560", "29343805", "24128419" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microcephaly 20, primary, autosomal recessive, MIM# 617914", "Meckel syndrome 12, MIM# 616258" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nicein-100kDa", "kalinin-105kDa", "BM600-100kDa" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6493", "gene_name": "laminin subunit gamma 2", "omim_gene": [ "150292" ], "alias_name": null, "gene_symbol": "LAMC2", "hgnc_symbol": "LAMC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:183155373-183214035", "ensembl_id": "ENSG00000058085" } }, "GRch38": { "90": { "location": "1:183186238-183244900", "ensembl_id": "ENSG00000058085" } } }, "hgnc_date_symbol_changed": "1993-07-13" }, "entity_type": "gene", "entity_name": "LAMC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11810295", "25888738", "24533970" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa, junctional 3A, intermediate MIM#619785", "Epidermolysis bullosa, junctional 3B, severe MIM#619786" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "mPA-PLA1", "PLA1B", "mPA-PLA1alpha", "LPDLR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18483", "gene_name": "lipase H", "omim_gene": [ "607365" ], "alias_name": [ "phospholipase A(1)" ], "gene_symbol": "LIPH", "hgnc_symbol": "LIPH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:185224050-185270401", "ensembl_id": "ENSG00000163898" } }, "GRch38": { "90": { "location": "3:185506262-185552613", "ensembl_id": "ENSG00000163898" } } }, "hgnc_date_symbol_changed": "2002-11-28" }, "entity_type": "gene", "entity_name": "LIPH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379", "Hypotrichosis 7, MIM# 604379" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TFAR15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8761", "gene_name": "programmed cell death 10", "omim_gene": [ "609118" ], "alias_name": null, "gene_symbol": "PDCD10", "hgnc_symbol": "PDCD10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:167401086-167452727", "ensembl_id": "ENSG00000114209" } }, "GRch38": { "90": { "location": "3:167683298-167734939", "ensembl_id": "ENSG00000114209" } } }, "hgnc_date_symbol_changed": "1999-12-10" }, "entity_type": "gene", "entity_name": "PDCD10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30356112", "15543491" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebral cavernous malformations 3 MIM#603285" ], "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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KCIP-1", "14-3-3-zeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12855", "gene_name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta", "omim_gene": [ "601288" ], "alias_name": [ "14-3-3 zeta", "14-3-3 delta" ], "gene_symbol": "YWHAZ", "hgnc_symbol": "YWHAZ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:101928753-101965616", "ensembl_id": "ENSG00000164924" } }, "GRch38": { "90": { "location": "8:100916525-100953388", "ensembl_id": "ENSG00000164924" } } }, "hgnc_date_symbol_changed": "1993-09-20" }, "entity_type": "gene", "entity_name": "YWHAZ", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36001342", "31024343", "35143101", "35501409", "22124272", "26207352", "40692796" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BETA-4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:572", "gene_name": "adaptor related protein complex 4 beta 1 subunit", "omim_gene": [ "607245" ], "alias_name": [ "beta 4 subunit of AP-4", "AP-4 complex subunit beta-1" ], "gene_symbol": "AP4B1", "hgnc_symbol": "AP4B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:114437370-114447823", "ensembl_id": "ENSG00000134262" } }, "GRch38": { "90": { "location": "1:113894748-113905201", "ensembl_id": "ENSG00000134262" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "AP4B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21620353", "22290197", "24700674", "24781758" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic paraplegia 47, autosomal recessive, MIM# 614066" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 144, "hash_id": null, "name": "Proteinuria", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.", "status": "public", "version": "0.239", "version_created": "2026-03-12T18:51:41.043263+11:00", "relevant_disorders": [ "Proteinuria HP:0000093" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "B14.5a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7691", "gene_name": "NADH:ubiquinone oxidoreductase subunit A7", "omim_gene": [ "602139" ], "alias_name": [ "complex I B14.5a subunit" ], "gene_symbol": "NDUFA7", "hgnc_symbol": "NDUFA7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:8373490-8386280", "ensembl_id": "ENSG00000267855" } }, "GRch38": { "90": { "location": "19:8308768-8321396", "ensembl_id": "ENSG00000267855" } } }, "hgnc_date_symbol_changed": "1996-11-15" }, "entity_type": "gene", "entity_name": "NDUFA7", "confidence_level": "1", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Other" ], "phenotypes": [ "Optic atrophy, MONDO:0003608, NDUFA7-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 149, "hash_id": null, "name": "Optic Atrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.", "status": "public", "version": "1.72", "version_created": "2026-03-31T18:57:17.873049+11:00", "relevant_disorders": [ "Optic atrophy", "HP:0000648" ], "stats": { "number_of_genes": 80, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5102", "gene_name": "homeobox A13", "omim_gene": [ "142959" ], "alias_name": null, "gene_symbol": "HOXA13", "hgnc_symbol": "HOXA13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:27233122-27239725", "ensembl_id": "ENSG00000106031" } }, "GRch38": { "90": { "location": "7:27193503-27200106", "ensembl_id": "ENSG00000106031" } } }, "hgnc_date_symbol_changed": "1990-07-05" }, "entity_type": "gene", "entity_name": "HOXA13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hand-foot-uterus syndrome, MIM# 140000" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 163, "hash_id": null, "name": "Radial Ray Abnormalities", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.21", "version_created": "2026-01-15T11:51:47.687282+11:00", "relevant_disorders": [ "Abnormality of radial ray", "HP:0410049" ], "stats": { "number_of_genes": 62, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSpin1", "nrs", "SPINL", "PP2030", "SPIN1", "LAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30621", "gene_name": "sphingolipid transporter 1 (putative)", "omim_gene": [ "612583" ], "alias_name": null, "gene_symbol": "SPNS1", "hgnc_symbol": "SPNS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:28985542-28995869", "ensembl_id": "ENSG00000169682" } }, "GRch38": { "90": { "location": "16:28974221-28984548", "ensembl_id": "ENSG00000169682" } } }, "hgnc_date_symbol_changed": "2007-04-12" }, "entity_type": "gene", "entity_name": "SPNS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40608416", "38451736" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lysosomal disorder, SPNS1-related, MONDO:0002561" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8806", "gene_name": "pyruvate dehydrogenase E1 alpha 1 subunit", "omim_gene": [ "300502" ], "alias_name": [ "pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial" ], "gene_symbol": "PDHA1", "hgnc_symbol": "PDHA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:19362011-19379823", "ensembl_id": "ENSG00000131828" } }, "GRch38": { "90": { "location": "X:19343893-19361705", "ensembl_id": "ENSG00000131828" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "PDHA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8504309" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC33727", "FLJ11273" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22407", "gene_name": "transmembrane protein 106B", "omim_gene": [ "613413" ], "alias_name": null, "gene_symbol": "TMEM106B", "hgnc_symbol": "TMEM106B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:12250867-12282993", "ensembl_id": "ENSG00000106460" } }, "GRch38": { "90": { "location": "7:12211241-12243367", "ensembl_id": "ENSG00000106460" } } }, "hgnc_date_symbol_changed": "2005-12-19" }, "entity_type": "gene", "entity_name": "TMEM106B", "confidence_level": "2", "penetrance": "Complete", "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": [ "29186371", "29444210", "32595021" ], "evidence": [ "Expert Review Green", "Expert Review Amber", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 16 (MIM #617964)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CIA30", "CGI-65" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18828", "gene_name": "NADH:ubiquinone oxidoreductase complex assembly factor 1", "omim_gene": [ "606934" ], "alias_name": null, "gene_symbol": "NDUFAF1", "hgnc_symbol": "NDUFAF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:41679551-41694717", "ensembl_id": "ENSG00000137806" } }, "GRch38": { "90": { "location": "15:41387349-41402519", "ensembl_id": "ENSG00000137806" } } }, "hgnc_date_symbol_changed": "2004-02-02" }, "entity_type": "gene", "entity_name": "NDUFAF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17557076", "21931170", "16218961", "24963768", "34975718" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dJ967N21.6", "CLS1", "GCD10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16148", "gene_name": "cardiolipin synthase 1", "omim_gene": [ "608188" ], "alias_name": [ "GCD10 homolog (S. cerevisiae)" ], "gene_symbol": "CRLS1", "hgnc_symbol": "CRLS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:5986736-6020699", "ensembl_id": "ENSG00000088766" } }, "GRch38": { "90": { "location": "20:6006090-6040053", "ensembl_id": "ENSG00000088766" } } }, "hgnc_date_symbol_changed": "2006-04-04" }, "entity_type": "gene", "entity_name": "CRLS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35147173" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 57, MIM# 620167" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5103", "gene_name": "homeobox A2", "omim_gene": [ "604685" ], "alias_name": null, "gene_symbol": "HOXA2", "hgnc_symbol": "HOXA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:27139721-27142430", "ensembl_id": "ENSG00000105996" } }, "GRch38": { "90": { "location": "7:27100354-27102811", "ensembl_id": "ENSG00000105996" } } }, "hgnc_date_symbol_changed": "1993-02-18" }, "entity_type": "gene", "entity_name": "HOXA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18394579", "23775976", "27503514", "32649979", "31567444" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Deafness Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microtia with or without hearing impairment, MIM# 612290" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hIk-1", "LyF-1", "Hs.54452", "IKAROS", "PPP1R92" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13176", "gene_name": "IKAROS family zinc finger 1", "omim_gene": [ "603023" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 92" ], "gene_symbol": "IKZF1", "hgnc_symbol": "IKZF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:50343720-50472799", "ensembl_id": "ENSG00000185811" } }, "GRch38": { "90": { "location": "7:50304124-50405101", "ensembl_id": "ENSG00000185811" } } }, "hgnc_date_symbol_changed": "2006-08-25" }, "entity_type": "gene", "entity_name": "IKZF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21548011", "26981933", "29889099", "31057532", "7923373", "11805317" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency, common variable, 13 MIM# 616873", "recurrent bacterial respiratory infections", "Thrombocytopaenia", "immunodeficiency", "Hypogammaglobulinaemia", "decrease B-cells", "decrease B-cell differentiation", "decrease memory B/T cells", "Low Ig", "pneumocystis early CID onset" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 223, "hash_id": null, "name": "Combined Immunodeficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.", "status": "public", "version": "1.145", "version_created": "2026-03-02T21:55:19.238904+11:00", "relevant_disorders": [ "Combined immunodeficiency", "MONDO:0015131; Combined immunodeficiency", "HP:0005387" ], "stats": { "number_of_genes": 170, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "STAT113" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11363", "gene_name": "signal transducer and activator of transcription 2", "omim_gene": [ "600556" ], "alias_name": null, "gene_symbol": "STAT2", "hgnc_symbol": "STAT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:56735381-56753939", "ensembl_id": "ENSG00000170581" } }, "GRch38": { "90": { "location": "12:56341597-56360155", "ensembl_id": "ENSG00000170581" } } }, "hgnc_date_symbol_changed": "1995-11-08" }, "entity_type": "gene", "entity_name": "STAT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [ "Susceptibility to viral disease" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GP130", "CD130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6021", "gene_name": "interleukin 6 signal transducer", "omim_gene": [ "600694" ], "alias_name": [ "gp130, oncostatin M receptor", "Interleukin-6 receptor subunit beta" ], "gene_symbol": "IL6ST", "hgnc_symbol": "IL6ST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:55230923-55290821", "ensembl_id": "ENSG00000134352" } }, "GRch38": { "90": { "location": "5:55935095-55994993", "ensembl_id": "ENSG00000134352" } } }, "hgnc_date_symbol_changed": "1991-08-12" }, "entity_type": "gene", "entity_name": "IL6ST", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33517393" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Immunodeficiency 94 with autoinflammation and dysmorphic facies \t619750" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SECRET", "DJ501N12.8", "SEGN", "CALBL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16941", "gene_name": "secretagogin, EF-hand calcium binding protein", "omim_gene": [ "609202" ], "alias_name": [ "calbindin-like" ], "gene_symbol": "SCGN", "hgnc_symbol": "SCGN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:25652464-25702011", "ensembl_id": "ENSG00000079689" } }, "GRch38": { "90": { "location": "6:25652201-25701783", "ensembl_id": "ENSG00000079689" } } }, "hgnc_date_symbol_changed": "2002-05-23" }, "entity_type": "gene", "entity_name": "SCGN", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31663849" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "ulcerative colitis, MONDO:0005101" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "beta-catenin", "armadillo" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2514", "gene_name": "catenin beta 1", "omim_gene": [ "116806" ], "alias_name": null, "gene_symbol": "CTNNB1", "hgnc_symbol": "CTNNB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:41236328-41301587", "ensembl_id": "ENSG00000168036" } }, "GRch38": { "90": { "location": "3:41194837-41260096", "ensembl_id": "ENSG00000168036" } } }, "hgnc_date_symbol_changed": "1993-07-13" }, "entity_type": "gene", "entity_name": "CTNNB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23033978", "24614104", "25326669", "27915094" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZNF990" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30690", "gene_name": "Sp9 transcription factor", "omim_gene": null, "alias_name": [ "zinc finger protein 990" ], "gene_symbol": "SP9", "hgnc_symbol": "SP9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:175199674-175203220", "ensembl_id": "ENSG00000217236" } }, "GRch38": { "90": { "location": "2:174334946-174338492", "ensembl_id": "ENSG00000217236" } } }, "hgnc_date_symbol_changed": "2008-12-09" }, "entity_type": "gene", "entity_name": "SP9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38288683" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ11046" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25622", "gene_name": "TBC1 domain family member 23", "omim_gene": [ "617687" ], "alias_name": null, "gene_symbol": "TBC1D23", "hgnc_symbol": "TBC1D23", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:99979844-100044095", "ensembl_id": "ENSG00000036054" } }, "GRch38": { "90": { "location": "3:100261000-100325251", "ensembl_id": "ENSG00000036054" } } }, "hgnc_date_symbol_changed": "2006-01-06" }, "entity_type": "gene", "entity_name": "TBC1D23", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28823707", "28823706" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 11, MIM# 617695" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FIR", "SIAHBP1", "RoBPI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17042", "gene_name": "poly(U) binding splicing factor 60", "omim_gene": [ "604819" ], "alias_name": [ "siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1" ], "gene_symbol": "PUF60", "hgnc_symbol": "PUF60", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:144898514-144912029", "ensembl_id": "ENSG00000179950" } }, "GRch38": { "90": { "location": "8:143816344-143829859", "ensembl_id": "ENSG00000179950" } } }, "hgnc_date_symbol_changed": "2007-07-27" }, "entity_type": "gene", "entity_name": "PUF60", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28327570" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Verheij syndrome, MIM# 615583" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CRSP77", "TRAP80", "DRIP80", "SRB4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2375", "gene_name": "mediator complex subunit 17", "omim_gene": [ "603810" ], "alias_name": null, "gene_symbol": "MED17", "hgnc_symbol": "MED17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:93517393-93547861", "ensembl_id": "ENSG00000042429" } }, "GRch38": { "90": { "location": "11:93784227-93814963", "ensembl_id": "ENSG00000042429" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "MED17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30345598" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "D2LIC", "LIC3", "CGI-60", "DKFZP564A033" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24595", "gene_name": "dynein cytoplasmic 2 light intermediate chain 1", "omim_gene": [ "617083" ], "alias_name": null, "gene_symbol": "DYNC2LI1", "hgnc_symbol": "DYNC2LI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:44001178-44037149", "ensembl_id": "ENSG00000138036" } }, "GRch38": { "90": { "location": "2:43774039-43810010", "ensembl_id": "ENSG00000138036" } } }, "hgnc_date_symbol_changed": "2005-11-29" }, "entity_type": "gene", "entity_name": "DYNC2LI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert Review Green", "Other", "NHS GMS", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "SRTD15 #617088", "SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10493", "bA219P18.1", "D4Ertd89e", "TRIC-B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25535", "gene_name": "transmembrane protein 38B", "omim_gene": [ "611236" ], "alias_name": null, "gene_symbol": "TMEM38B", "hgnc_symbol": "TMEM38B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:108456825-108538893", "ensembl_id": "ENSG00000095209" } }, "GRch38": { "90": { "location": "9:105694544-105776612", "ensembl_id": "ENSG00000095209" } } }, "hgnc_date_symbol_changed": "2004-12-22" }, "entity_type": "gene", "entity_name": "TMEM38B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert", "Radboud University Medical Center, Nijmegen", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Osteogenesis imperfecta, type XIV 615066", "osteogenesis imperfecta", "Osteogenesis imperfecta, type XIV, 615066" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "bA571F15.4", "FLJ10933", "FLJ43884" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19916", "gene_name": "kinesin family member 24", "omim_gene": [ "613747" ], "alias_name": null, "gene_symbol": "KIF24", "hgnc_symbol": "KIF24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:34252379-34329198", "ensembl_id": "ENSG00000186638" } }, "GRch38": { "90": { "location": "9:34252381-34311371", "ensembl_id": "ENSG00000186638" } } }, "hgnc_date_symbol_changed": "2002-12-03" }, "entity_type": "gene", "entity_name": "KIF24", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35748595" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Skeletal dysplasia MONDO:0018230, KIF24 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": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9498", "gene_name": "prosaposin", "omim_gene": [ "176801" ], "alias_name": [ "variant Gaucher disease and variant metachromatic leukodystrophy" ], "gene_symbol": "PSAP", "hgnc_symbol": "PSAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73576055-73611126", "ensembl_id": "ENSG00000197746" } }, "GRch38": { "90": { "location": "10:71816298-71851375", "ensembl_id": "ENSG00000197746" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PSAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Metachromatic leukodystrophy due to SAP-b deficiency, MIM#\t249900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3148", "gene_name": "thymidine phosphorylase", "omim_gene": [ "131222" ], "alias_name": [ "gliostatin" ], "gene_symbol": "TYMP", "hgnc_symbol": "TYMP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50964181-50968485", "ensembl_id": "ENSG00000025708" } }, "GRch38": { "90": { "location": "22:50525752-50530056", "ensembl_id": "ENSG00000025708" } } }, "hgnc_date_symbol_changed": "2008-01-21" }, "entity_type": "gene", "entity_name": "TYMP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 1 (MNGIE type)", "Mitochondrial Leukoencephalopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDHR23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13733", "gene_name": "cadherin related 23", "omim_gene": [ "605516" ], "alias_name": [ "cadherin-related family member 23" ], "gene_symbol": "CDH23", "hgnc_symbol": "CDH23", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73156691-73575702", "ensembl_id": "ENSG00000107736" } }, "GRch38": { "90": { "location": "10:71396934-71815947", "ensembl_id": "ENSG00000107736" } } }, "hgnc_date_symbol_changed": "2000-10-19" }, "entity_type": "gene", "entity_name": "CDH23", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11138009", "25468891", "21940737" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Usher syndrome, type 1D 601067", "Usher syndrome, type 1D/F digenic 601067" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3086, "hash_id": null, "name": "Usher Syndrome", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Deafness_IsolatedAndComplex and Retinal Disorders panels if findings are not specific, and a wider differential is considered, including the possibility of dual diagnosis.", "status": "public", "version": "1.5", "version_created": "2023-01-15T18:08:18.097118+11:00", "relevant_disorders": [ "Usher syndrome", "MONDO:0019501" ], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dUTPase" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3078", "gene_name": "deoxyuridine triphosphatase", "omim_gene": [ "601266" ], "alias_name": [ "dUTP diphosphatase" ], "gene_symbol": "DUT", "hgnc_symbol": "DUT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:48623208-48635570", "ensembl_id": "ENSG00000128951" } }, "GRch38": { "90": { "location": "15:48331011-48343373", "ensembl_id": "ENSG00000128951" } } }, "hgnc_date_symbol_changed": "1995-09-28" }, "entity_type": "gene", "entity_name": "DUT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28073829", "35611808" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Bone marrow failure and diabetes mellitus syndrome (MIM#620044)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "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": [ "JNCL", "BTN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2074", "gene_name": "CLN3, battenin", "omim_gene": [ "607042" ], "alias_name": [ "juvenile neuronal ceroid lipofuscinosis" ], "gene_symbol": "CLN3", "hgnc_symbol": "CLN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:28477983-28506896", "ensembl_id": "ENSG00000188603" } }, "GRch38": { "90": { "location": "16:28474111-28495575", "ensembl_id": "ENSG00000188603" } } }, "hgnc_date_symbol_changed": "1989-06-06" }, "entity_type": "gene", "entity_name": "CLN3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "RetNet", "Expert Review Green", "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Juvenile neuronal ceroid lipofuscinosis", "Retinitis pigmentosa" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3099, "hash_id": null, "name": "Syndromic Retinopathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.", "status": "public", "version": "0.256", "version_created": "2026-03-31T19:05:29.271183+11:00", "relevant_disorders": [ "Retinopathy", "HP:0000488" ], "stats": { "number_of_genes": 138, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC2562", "APOP-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20492", "gene_name": "apoptogenic 1, mitochondrial", "omim_gene": [ "616003" ], "alias_name": [ "apoptogenic protein 1" ], "gene_symbol": "APOPT1", "hgnc_symbol": "APOPT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:104029299-104073860", "ensembl_id": "ENSG00000256053" } }, "GRch38": { "90": { "location": "14:103562962-103607523", "ensembl_id": "ENSG00000256053" } } }, "hgnc_date_symbol_changed": "2011-09-07" }, "entity_type": "gene", "entity_name": "APOPT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial complex IV deficiency, 220110 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "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": [ "FI", "C3b-INA", "KAF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5394", "gene_name": "complement factor I", "omim_gene": [ "217030" ], "alias_name": [ "Konglutinogen-activating factor", "C3b-inactivator" ], "gene_symbol": "CFI", "hgnc_symbol": "CFI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:110661852-110723335", "ensembl_id": "ENSG00000205403" } }, "GRch38": { "90": { "location": "4:109740694-109802179", "ensembl_id": "ENSG00000205403" } } }, "hgnc_date_symbol_changed": "2006-02-10" }, "entity_type": "gene", "entity_name": "CFI", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Complement factor I deficiency, 610984 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6217", "gene_name": "katanin regulatory subunit B1", "omim_gene": [ "602703" ], "alias_name": null, "gene_symbol": "KATNB1", "hgnc_symbol": "KATNB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:57769642-57791162", "ensembl_id": "ENSG00000140854" } }, "GRch38": { "90": { "location": "16:57735730-57757250", "ensembl_id": "ENSG00000140854" } } }, "hgnc_date_symbol_changed": "1999-08-25" }, "entity_type": "gene", "entity_name": "KATNB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lissencephaly 6, with microcephaly, 616212 (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": [ "MR60", "ERGIC-53", "ERGIC53", "gp58", "MCFD1", "FMFD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6631", "gene_name": "lectin, mannose binding 1", "omim_gene": [ "601567" ], "alias_name": [ "endoplasmic reticulum-golgi intermediate compartment protein 53" ], "gene_symbol": "LMAN1", "hgnc_symbol": "LMAN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:56995055-57027194", "ensembl_id": "ENSG00000074695" } }, "GRch38": { "90": { "location": "18:59327823-59359962", "ensembl_id": "ENSG00000074695" } } }, "hgnc_date_symbol_changed": "1996-06-06" }, "entity_type": "gene", "entity_name": "LMAN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Combined factor V and VIII deficiency, 227300 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7863", "gene_name": "nicotinamide nucleotide transhydrogenase", "omim_gene": [ "607878" ], "alias_name": null, "gene_symbol": "NNT", "hgnc_symbol": "NNT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:43602794-43707507", "ensembl_id": "ENSG00000112992" } }, "GRch38": { "90": { "location": "5:43602692-43707405", "ensembl_id": "ENSG00000112992" } } }, "hgnc_date_symbol_changed": "1999-11-16" }, "entity_type": "gene", "entity_name": "NNT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Glucocorticoid deficiency 4, 614736 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8854", "gene_name": "peroxisomal biogenesis factor 12", "omim_gene": [ "601758" ], "alias_name": null, "gene_symbol": "PEX12", "hgnc_symbol": "PEX12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:33901814-33905882", "ensembl_id": "ENSG00000108733" } }, "GRch38": { "90": { "location": "17:35574795-35578863", "ensembl_id": "ENSG00000108733" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "PEX12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Peroxisome biogenesis disorder 3A (Zellweger), 614859" ], "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": [ "RecQ4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9949", "gene_name": "RecQ like helicase 4", "omim_gene": [ "603780" ], "alias_name": null, "gene_symbol": "RECQL4", "hgnc_symbol": "RECQL4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145736667-145743229", "ensembl_id": "ENSG00000160957" } }, "GRch38": { "90": { "location": "8:144511288-144517845", "ensembl_id": "ENSG00000160957" } } }, "hgnc_date_symbol_changed": "2014-03-07" }, "entity_type": "gene", "entity_name": "RECQL4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Baller-Gerold syndrome, 218600 (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": [ "FLJ22386" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29478", "gene_name": "rogdi homolog", "omim_gene": [ "614574" ], "alias_name": null, "gene_symbol": "ROGDI", "hgnc_symbol": "ROGDI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:4846969-4852951", "ensembl_id": "ENSG00000067836" } }, "GRch38": { "90": { "location": "16:4796968-4802950", "ensembl_id": "ENSG00000067836" } } }, "hgnc_date_symbol_changed": "2006-03-08" }, "entity_type": "gene", "entity_name": "ROGDI", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Kohlschutter-Tonz syndrome, 226750 (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": [ "ATF6A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:791", "gene_name": "activating transcription factor 6", "omim_gene": [ "605537" ], "alias_name": [ "activating transcription factor 6 alpha" ], "gene_symbol": "ATF6", "hgnc_symbol": "ATF6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:161736084-161933860", "ensembl_id": "ENSG00000118217" } }, "GRch38": { "90": { "location": "1:161766294-161964070", "ensembl_id": "ENSG00000118217" } } }, "hgnc_date_symbol_changed": "1999-12-15" }, "entity_type": "gene", "entity_name": "ATF6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26063662", "26029869" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Achromatopsia 7 MIM#616517" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3149, "hash_id": null, "name": "Achromatopsia", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause achromatopsia, a condition characterised by a partial or total absence of colour vision, along with additional visual problems. This panel also contains genes that cause bradyopsia.", "status": "public", "version": "1.6", "version_created": "2026-03-16T10:52:20.739036+11:00", "relevant_disorders": [ "Achromatopsia", "HP:0011516" ], "stats": { "number_of_genes": 8, "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": [ "PGA1", "APS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:360", "gene_name": "autoimmune regulator", "omim_gene": [ "607358" ], "alias_name": [ "autoimmune polyendocrinopathy candidiasis ectodermal dystrophy" ], "gene_symbol": "AIRE", "hgnc_symbol": "AIRE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:45705721-45718531", "ensembl_id": "ENSG00000160224" } }, "GRch38": { "90": { "location": "21:44285838-44298648", "ensembl_id": "ENSG00000160224" } } }, "hgnc_date_symbol_changed": "1997-09-05" }, "entity_type": "gene", "entity_name": "AIRE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.410", "version_created": "2026-04-06T10:52:55.877866+10:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 164, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BRAF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1097", "gene_name": "B-Raf proto-oncogene, serine/threonine kinase", "omim_gene": [ "164757" ], "alias_name": null, "gene_symbol": "BRAF", "hgnc_symbol": "BRAF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:140419127-140624564", "ensembl_id": "ENSG00000157764" } }, "GRch38": { "90": { "location": "7:140719327-140924764", "ensembl_id": "ENSG00000157764" } } }, "hgnc_date_symbol_changed": "1991-07-16" }, "entity_type": "gene", "entity_name": "BRAF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "29316280", "30544177", "29461977" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Sporadic vascular malformations" ], "mode_of_inheritance": "Other", "tags": [ "somatic" ], "panel": { "id": 3181, "hash_id": null, "name": "Vascular Malformations_Somatic", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes that cause vascular malformations as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nIf a germline disorder is suspected, please use the Vascular Malformations_Germline panel.", "status": "public", "version": "1.16", "version_created": "2025-10-02T12:54:21.549968+10:00", "relevant_disorders": [ "Abnormal vascular morphology HP:0025015" ], "stats": { "number_of_genes": 25, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KPPS2", "PPKS2", "DPI", "DPII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3052", "gene_name": "desmoplakin", "omim_gene": [ "125647" ], "alias_name": null, "gene_symbol": "DSP", "hgnc_symbol": "DSP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:7541808-7586950", "ensembl_id": "ENSG00000096696" } }, "GRch38": { "90": { "location": "6:7541575-7586717", "ensembl_id": "ENSG00000096696" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "DSP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31332722" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Skin fragility-woolly hair syndrome, 607655", "Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676", "Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3269, "hash_id": null, "name": "Hair disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.84", "version_created": "2026-03-30T12:08:41.487037+11:00", "relevant_disorders": [ "Abnormal hair morphology", "HP:0001595" ], "stats": { "number_of_genes": 60, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RB", "PPP1R130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9884", "gene_name": "RB transcriptional corepressor 1", "omim_gene": [ "614041" ], "alias_name": [ "prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130" ], "gene_symbol": "RB1", "hgnc_symbol": "RB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:48877887-49056122", "ensembl_id": "ENSG00000139687" } }, "GRch38": { "90": { "location": "13:48303751-48481986", "ensembl_id": "ENSG00000139687" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "RB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Retinoblastoma" ], "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": [ "SCDO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2909", "gene_name": "delta like canonical Notch ligand 3", "omim_gene": [ "602768" ], "alias_name": null, "gene_symbol": "DLL3", "hgnc_symbol": "DLL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:39989535-39999121", "ensembl_id": "ENSG00000090932" } }, "GRch38": { "90": { "location": "19:39498895-39508481", "ensembl_id": "ENSG00000090932" } } }, "hgnc_date_symbol_changed": "2000-03-15" }, "entity_type": "gene", "entity_name": "DLL3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Spondylocostal dysostosis, autosomal recessive, 1" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8855", "gene_name": "peroxisomal biogenesis factor 13", "omim_gene": [ "601789" ], "alias_name": null, "gene_symbol": "PEX13", "hgnc_symbol": "PEX13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:61244360-61279125", "ensembl_id": "ENSG00000162928" } }, "GRch38": { "90": { "location": "2:61017225-61051990", "ensembl_id": "ENSG00000162928" } } }, "hgnc_date_symbol_changed": "1997-06-24" }, "entity_type": "gene", "entity_name": "PEX13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Zellweger 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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:17151", "gene_name": "origin recognition complex subunit 6", "omim_gene": [ "607213" ], "alias_name": null, "gene_symbol": "ORC6", "hgnc_symbol": "ORC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:46723555-46732306", "ensembl_id": "ENSG00000091651" } }, "GRch38": { "90": { "location": "16:46689643-46698394", "ensembl_id": "ENSG00000091651" } } }, "hgnc_date_symbol_changed": "2010-10-12" }, "entity_type": "gene", "entity_name": "ORC6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Meier-Gorlin 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": [ "ESSS", "NP17.3", "Np15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20372", "gene_name": "NADH:ubiquinone oxidoreductase subunit B11", "omim_gene": [ "300403" ], "alias_name": [ "complex I NP17.3 subunit" ], "gene_symbol": "NDUFB11", "hgnc_symbol": "NDUFB11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:47001615-47004903", "ensembl_id": "ENSG00000147123" } }, "GRch38": { "90": { "location": "X:47142216-47145504", "ensembl_id": "ENSG00000147123" } } }, "hgnc_date_symbol_changed": "2004-09-02" }, "entity_type": "gene", "entity_name": "NDUFB11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27488349" ], "evidence": [ "Expert Review Green", "Wessex and West Midlands GLH", "NHS GMS" ], "phenotypes": [ "X-linked sideroblastic anaemia" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3366, "hash_id": null, "name": "Red cell disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.", "status": "public", "version": "1.52", "version_created": "2026-03-28T15:18:36.006857+11:00", "relevant_disorders": [ "Abnormal erythrocyte morphology", "HP:0001877" ], "stats": { "number_of_genes": 116, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DXS423E", "KIAA0178", "SB1.8", "Smcb" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11111", "gene_name": "structural maintenance of chromosomes 1A", "omim_gene": [ "300040" ], "alias_name": null, "gene_symbol": "SMC1A", "hgnc_symbol": "SMC1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:53401070-53449677", "ensembl_id": "ENSG00000072501" } }, "GRch38": { "90": { "location": "X:53374149-53422728", "ensembl_id": "ENSG00000072501" } } }, "hgnc_date_symbol_changed": "2006-07-06" }, "entity_type": "gene", "entity_name": "SMC1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "CDLS2", "CORNELIA DE LANGE SYNDROME 2" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4161", "gene_name": "leucine rich repeat containing 32", "omim_gene": [ "137207" ], "alias_name": null, "gene_symbol": "LRRC32", "hgnc_symbol": "LRRC32", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:76368568-76381791", "ensembl_id": "ENSG00000137507" } }, "GRch38": { "90": { "location": "11:76657524-76670747", "ensembl_id": "ENSG00000137507" } } }, "hgnc_date_symbol_changed": "2005-02-25" }, "entity_type": "gene", "entity_name": "LRRC32", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30976112", "41041957" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SBP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30972", "gene_name": "SECIS binding protein 2", "omim_gene": [ "607693" ], "alias_name": [ "Sec insertion sequence-binding protein 2" ], "gene_symbol": "SECISBP2", "hgnc_symbol": "SECISBP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:91933421-91974557", "ensembl_id": "ENSG00000187742" } }, "GRch38": { "90": { "location": "9:89318506-89359662", "ensembl_id": "ENSG00000187742" } } }, "hgnc_date_symbol_changed": "2004-05-10" }, "entity_type": "gene", "entity_name": "SECISBP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22986150", "24629861", "19602558", "22247018", "20501692", "16228000", "21084748" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Thyroid hormone metabolism, abnormal, MIM#\t609698" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3372, "hash_id": null, "name": "Hyperthyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with hyperthyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hyperthyroidism' panel V3.4, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "0.25", "version_created": "2026-02-05T10:59:28.634960+11:00", "relevant_disorders": [ "Hyperthyroidism HP:0000836" ], "stats": { "number_of_genes": 8, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BABL", "LIPO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5009", "gene_name": "high mobility group AT-hook 2", "omim_gene": [ "600698" ], "alias_name": null, "gene_symbol": "HMGA2", "hgnc_symbol": "HMGA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:66217911-66360075", "ensembl_id": "ENSG00000149948" } }, "GRch38": { "90": { "location": "12:65824131-65966295", "ensembl_id": "ENSG00000149948" } } }, "hgnc_date_symbol_changed": "2002-07-26" }, "entity_type": "gene", "entity_name": "HMGA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NSW Health Pathology", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3437, "hash_id": null, "name": "Incidentalome_PREGEN_DRAFT", "disease_group": "", "disease_sub_group": "", "description": "Imported to facilitate update work. Do not use while labeled as DRAFT", "status": "public", "version": "0.43", "version_created": "2021-01-20T16:42:09.286633+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 173, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC99481" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25095", "gene_name": "DDB1 and CUL4 associated factor 15", "omim_gene": null, "alias_name": null, "gene_symbol": "DCAF15", "hgnc_symbol": "DCAF15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:14063304-14072254", "ensembl_id": "ENSG00000132017" } }, "GRch38": { "90": { "location": "19:13952492-13961449", "ensembl_id": "ENSG00000132017" } } }, "hgnc_date_symbol_changed": "2009-07-17" }, "entity_type": "gene", "entity_name": "DCAF15", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Amber", "Other" ], "phenotypes": [ "Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "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": "", "publications": [ "32462814", "29866761", "24480542", "33650182", "37463572", "35792517", "34906446" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Growth hormone deficiency", "Intellectual disability" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CSPGCP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:319", "gene_name": "aggrecan", "omim_gene": [ "155760" ], "alias_name": [ "aggrecan proteoglycan" ], "gene_symbol": "ACAN", "hgnc_symbol": "ACAN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:89346674-89418585", "ensembl_id": "ENSG00000157766" } }, "GRch38": { "90": { "location": "15:88803443-88875354", "ensembl_id": "ENSG00000157766" } } }, "hgnc_date_symbol_changed": "2007-02-16" }, "entity_type": "gene", "entity_name": "ACAN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24762113", "27870580", "19110214", "30124491", "28331218", "20137779" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, MIM# 165800", "Spondyloepimetaphyseal dysplasia, aggrecan type, MIM# 612813" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11195", "gene_name": "SRY-box 2", "omim_gene": [ "184429" ], "alias_name": null, "gene_symbol": "SOX2", "hgnc_symbol": "SOX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:181429714-181432221", "ensembl_id": "ENSG00000181449" } }, "GRch38": { "90": { "location": "3:181711924-181714436", "ensembl_id": "ENSG00000181449" } } }, "hgnc_date_symbol_changed": "1993-11-30" }, "entity_type": "gene", "entity_name": "SOX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15812812", "16543359", "16932809" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Microphthalmia, syndromic 3, MIM# 206900" ], "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": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1071" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17810", "gene_name": "angiomotin", "omim_gene": [ "300410" ], "alias_name": null, "gene_symbol": "AMOT", "hgnc_symbol": "AMOT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:112017731-112084043", "ensembl_id": "ENSG00000126016" } }, "GRch38": { "90": { "location": "X:112774503-112840815", "ensembl_id": "ENSG00000126016" } } }, "hgnc_date_symbol_changed": "2002-01-24" }, "entity_type": "gene", "entity_name": "AMOT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40892511" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Congenital hydrocephalus MONDO:0016349, AMOT-related" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10210", "KIAA1294", "bA295P9.4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25491", "gene_name": "FERM domain containing 4A", "omim_gene": [ "616305" ], "alias_name": null, "gene_symbol": "FRMD4A", "hgnc_symbol": "FRMD4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:13685706-14504141", "ensembl_id": "ENSG00000151474" } }, "GRch38": { "90": { "location": "10:13643706-14462142", "ensembl_id": "ENSG00000151474" } } }, "hgnc_date_symbol_changed": "2004-07-15" }, "entity_type": "gene", "entity_name": "FRMD4A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30266093", "25388005", "30214071" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp", "Expert Review" ], "phenotypes": [ "Intellectual disability", "microcephaly", "Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MCD", "hMCD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7150", "gene_name": "malonyl-CoA decarboxylase", "omim_gene": [ "606761" ], "alias_name": null, "gene_symbol": "MLYCD", "hgnc_symbol": "MLYCD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:83932731-83949787", "ensembl_id": "ENSG00000103150" } }, "GRch38": { "90": { "location": "16:83899126-83927026", "ensembl_id": "ENSG00000103150" } } }, "hgnc_date_symbol_changed": "2000-02-11" }, "entity_type": "gene", "entity_name": "MLYCD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12955715" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Malonyl-CoA decarboxylase deficiency, MIM# 248360" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FSSV", "DA2B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11946", "gene_name": "troponin I2, fast skeletal type", "omim_gene": [ "191043" ], "alias_name": [ "troponin I, fast-twitch skeletal muscle isoform", "troponin I fast twitch 2" ], "gene_symbol": "TNNI2", "hgnc_symbol": "TNNI2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:1860219-1862910", "ensembl_id": "ENSG00000130598" } }, "GRch38": { "90": { "location": "11:1838989-1841680", "ensembl_id": "ENSG00000130598" } } }, "hgnc_date_symbol_changed": "1989-12-11" }, "entity_type": "gene", "entity_name": "TNNI2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17194691", "25340332", "12592607" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Arthrogryposis multiplex congenita, distal, type 2B MIM#601680" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GCP6", "KIAA1669", "DJ402G11.6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18127", "gene_name": "tubulin gamma complex associated protein 6", "omim_gene": [ "610053" ], "alias_name": [ "gamma-tubulin complex component 6" ], "gene_symbol": "TUBGCP6", "hgnc_symbol": "TUBGCP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50656118-50683421", "ensembl_id": "ENSG00000128159" } }, "GRch38": { "90": { "location": "22:50217689-50244992", "ensembl_id": "ENSG00000128159" } } }, "hgnc_date_symbol_changed": "2002-08-14" }, "entity_type": "gene", "entity_name": "TUBGCP6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25344692", "22279524" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FRAXE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3776", "gene_name": "AF4/FMR2 family member 2", "omim_gene": [ "300806" ], "alias_name": null, "gene_symbol": "AFF2", "hgnc_symbol": "AFF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:147582139-148082193", "ensembl_id": "ENSG00000155966" } }, "GRch38": { "90": { "location": "X:148500619-149000663", "ensembl_id": "ENSG00000155966" } } }, "hgnc_date_symbol_changed": "2005-06-27" }, "entity_type": "gene", "entity_name": "AFF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8334699", "21739600", "22773736" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Mental retardation, X-linked, FRAXE type 309548" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "SV/CNV", "STR" ], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22170", "AAF132" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26169", "gene_name": "CST telomere replication complex component 1", "omim_gene": [ "613129" ], "alias_name": [ "conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1" ], "gene_symbol": "CTC1", "hgnc_symbol": "CTC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:8130191-8151362", "ensembl_id": "ENSG00000178971" } }, "GRch38": { "90": { "location": "17:8224821-8248044", "ensembl_id": "ENSG00000178971" } } }, "hgnc_date_symbol_changed": "2011-02-21" }, "entity_type": "gene", "entity_name": "CTC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "IBMDx Study", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3829, "hash_id": null, "name": "IBMDx study", "disease_group": "", "disease_sub_group": "", "description": "The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2, BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.", "status": "public", "version": "0.42", "version_created": "2026-03-19T18:45:41.236506+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Research", "slug": "research", "description": "Research panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ35630", "FLJ41559" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26648", "gene_name": "Bardet-Biedl syndrome 12", "omim_gene": [ "610683" ], "alias_name": null, "gene_symbol": "BBS12", "hgnc_symbol": "BBS12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:123653857-123666098", "ensembl_id": "ENSG00000181004" } }, "GRch38": { "90": { "location": "4:122732702-122744943", "ensembl_id": "ENSG00000181004" } } }, "hgnc_date_symbol_changed": "2006-12-13" }, "entity_type": "gene", "entity_name": "BBS12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bardet-Biedl syndrome 12, 615989 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PXAAA1", "PAF-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8859", "gene_name": "peroxisomal biogenesis factor 6", "omim_gene": [ "601498" ], "alias_name": null, "gene_symbol": "PEX6", "hgnc_symbol": "PEX6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:42931608-42946958", "ensembl_id": "ENSG00000124587" } }, "GRch38": { "90": { "location": "6:42963870-42979220", "ensembl_id": "ENSG00000124587" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "PEX6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8940266", "22894767" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862", "Peroxisome biogenesis disorder-4B, MIM# 614863" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0806" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20889", "gene_name": "leucine rich repeats and immunoglobulin like domains 2", "omim_gene": [ "608869" ], "alias_name": null, "gene_symbol": "LRIG2", "hgnc_symbol": "LRIG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:113615831-113674882", "ensembl_id": "ENSG00000198799" } }, "GRch38": { "90": { "location": "1:113073209-113132260", "ensembl_id": "ENSG00000198799" } } }, "hgnc_date_symbol_changed": "2003-04-25" }, "entity_type": "gene", "entity_name": "LRIG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23313374", "30885509", "23967498" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Urofacial syndrome 2, MIM #615112" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4922", "gene_name": "hexokinase 1", "omim_gene": [ "142600" ], "alias_name": null, "gene_symbol": "HK1", "hgnc_symbol": "HK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:71029740-71161638", "ensembl_id": "ENSG00000156515" } }, "GRch38": { "90": { "location": "10:69269984-69401882", "ensembl_id": "ENSG00000156515" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33361148", "12393545", "38415930", "7655856", "31119733", "27282571" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hemolytic anemia due to hexokinase deficiency MIM#235700", "Neuropathy, hereditary motor and sensory, Russe type, MIM#605285" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4878", "gene_name": "hexosaminidase subunit alpha", "omim_gene": [ "606869" ], "alias_name": [ "Tay Sachs disease", "GM2 gangliosidosis", "beta-hexosaminidase subunit alpha" ], "gene_symbol": "HEXA", "hgnc_symbol": "HEXA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:72635775-72668817", "ensembl_id": "ENSG00000213614" } }, "GRch38": { "90": { "location": "15:72340919-72376476", "ensembl_id": "ENSG00000213614" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HEXA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31388111", "20301397" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Tay-Sachs disease, 272800 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C48", "FLJ10867", "CEP215" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18672", "gene_name": "CDK5 regulatory subunit associated protein 2", "omim_gene": [ "608201" ], "alias_name": [ "centrosomin" ], "gene_symbol": "CDK5RAP2", "hgnc_symbol": "CDK5RAP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:123151147-123342448", "ensembl_id": "ENSG00000136861" } }, "GRch38": { "90": { "location": "9:120388869-120580170", "ensembl_id": "ENSG00000136861" } } }, "hgnc_date_symbol_changed": "2002-07-22" }, "entity_type": "gene", "entity_name": "CDK5RAP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Microcephaly 3, primary, autosomal recessive, MIM# 604804", "MONDO:0011488" ], "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": [ "retGC", "RETGC-1", "ROS-GC1", "CYGD", "LCA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4689", "gene_name": "guanylate cyclase 2D, retinal", "omim_gene": [ "600179" ], "alias_name": [ "rod outer segment membrane guanylate cyclase", "retinal guanylate cyclase 1" ], "gene_symbol": "GUCY2D", "hgnc_symbol": "GUCY2D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7905912-7923657", "ensembl_id": "ENSG00000132518" } }, "GRch38": { "90": { "location": "17:8002594-8020339", "ensembl_id": "ENSG00000132518" } } }, "hgnc_date_symbol_changed": "1993-11-09" }, "entity_type": "gene", "entity_name": "GUCY2D", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15024725", "35314386" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Leber congenital amaurosis 1, MIM #204000" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BAF47", "Ini1", "Snr1", "hSNFS", "Sfh1p", "RDT", "PPP1R144" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11103", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1", "omim_gene": [ "601607" ], "alias_name": [ "sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144" ], "gene_symbol": "SMARCB1", "hgnc_symbol": "SMARCB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:24129150-24176703", "ensembl_id": "ENSG00000099956" } }, "GRch38": { "90": { "location": "22:23786963-23834516", "ensembl_id": "ENSG00000099956" } } }, "hgnc_date_symbol_changed": "1995-08-21" }, "entity_type": "gene", "entity_name": "SMARCB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Soft tissue sarcoma, MONDO:0018078", "Sarcoma, MONDO:0005089", "Rhabdoid tumor predisposition syndrome 1, MONDO:0012252", "Rhabdoid tumor predisposition syndrome 1, MIM#609322" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4358, "hash_id": null, "name": "Sarcoma soft tissue", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with soft tissue sarcoma.\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with soft tissue sarcoma and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2026-01-12T09:39:55.152718+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BUBR1", "MAD3L", "Bub1A", "SSK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1149", "gene_name": "BUB1 mitotic checkpoint serine/threonine kinase B", "omim_gene": [ "602860" ], "alias_name": null, "gene_symbol": "BUB1B", "hgnc_symbol": "BUB1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40453224-40513337", "ensembl_id": "ENSG00000156970" } }, "GRch38": { "90": { "location": "15:40161023-40221136", "ensembl_id": "ENSG00000156970" } } }, "hgnc_date_symbol_changed": "1998-03-25" }, "entity_type": "gene", "entity_name": "BUB1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Wilms tumor, MONDO:0006058", "Mosaic variegated aneuploidy syndrome 1, MONDO:0009759", "Mosaic variegated aneuploidy syndrome 1, MIM#257300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4366, "hash_id": null, "name": "Wilms Tumour", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with Wilms tumour. \r\n\r\nFurther information on the testing criteria for Wilms tumour can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3703-wilms-tumour-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with Wilms tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nWhere Beckwith-Wiedemann Syndrome (BWS) is suspected it is more appropriate to start with methylation studies of 11p15 BWS region in blood and tissue.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2025-09-05T08:17:06.102713+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNPCC", "FCC2", "HNPCC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7127", "gene_name": "mutL homolog 1", "omim_gene": [ "120436" ], "alias_name": null, "gene_symbol": "MLH1", "hgnc_symbol": "MLH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:37034823-37107380", "ensembl_id": "ENSG00000076242" } }, "GRch38": { "90": { "location": "3:36993332-37050918", "ensembl_id": "ENSG00000076242" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "MLH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Malignant pancreatic neoplasm, MONDO:0009831", "Lynch syndrome 2, MONDO:0012249", "Mismatch repair cancer syndrome 1, MONDO:0010159", "Lynch syndrome 2, MIM#609310", "Mismatch repair cancer syndrome 1, MIM#276300" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4370, "hash_id": null, "name": "Pancreatic Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with pancreatic cancer. \r\n\r\nFurther information on the testing criteria for pancreatic cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3906-pancreatic-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with pancreatic cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:32:06.575750+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DLP12", "Dnahc3", "HL-19", "hdhc3", "DHC3", "FLJ40427", "FLJ44290" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2943", "gene_name": "dynein axonemal heavy chain 12", "omim_gene": [ "603340" ], "alias_name": null, "gene_symbol": "DNAH12", "hgnc_symbol": "DNAH12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:57327727-57530071", "ensembl_id": "ENSG00000174844" } }, "GRch38": { "90": { "location": "3:57293699-57544344", "ensembl_id": "ENSG00000174844" } } }, "hgnc_date_symbol_changed": "1999-02-15" }, "entity_type": "gene", "entity_name": "DNAH12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39071892", "40146200" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 100, MIM#\t621209" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.140", "version_created": "2026-04-06T10:51:58.181866+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 264, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "JP-3", "CAGL237", "HDL2", "JP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14203", "gene_name": "junctophilin 3", "omim_gene": [ "605268" ], "alias_name": null, "gene_symbol": "JPH3", "hgnc_symbol": "JPH3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:87635441-87731762", "ensembl_id": "ENSG00000154118" } }, "GRch38": { "90": { "location": "16:87601835-87698156", "ensembl_id": "ENSG00000154118" } } }, "hgnc_date_symbol_changed": "2000-12-08" }, "entity_type": "str", "entity_name": "JPH3_HDL2_CTG", "confidence_level": "3", "penetrance": null, "publications": [ "20301701" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Huntington disease-like 2 MIM#606438" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CTG", "chromosome": "16", "grch37_coordinates": [ 87637894, 87637935 ], "grch38_coordinates": [ 87604288, 87604329 ], "normal_repeats": 28, "pathogenic_repeats": 40, "tags": [ "STR" ], "panel": { "id": 24, "hash_id": null, "name": "Early-onset Dementia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.58", "version_created": "2026-03-31T16:43:37.497568+11:00", "relevant_disorders": [ "Cognitive impairment", "HP:0100543" ], "stats": { "number_of_genes": 96, "number_of_strs": 6, "number_of_regions": 0 }, "types": [ { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] } } ] }