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GET /api/v1/entities/?format=api&page=283
{ "count": 36035, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=284", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=282", "results": [ { "gene_data": { "alias": [ "KIAA0622", "MAST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17088", "gene_name": "cytoplasmic linker associated protein 1", "omim_gene": [ "605852" ], "alias_name": [ "multiple asters 1" ], "gene_symbol": "CLASP1", "hgnc_symbol": "CLASP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:122095352-122407163", "ensembl_id": "ENSG00000074054" } }, "GRch38": { "90": { "location": "2:121337776-121649587", "ensembl_id": "ENSG00000074054" } } }, "hgnc_date_symbol_changed": "2002-06-12" }, "entity_type": "gene", "entity_name": "CLASP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39040917" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, CLASP1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 15, "hash_id": null, "name": "Lissencephaly and Band Heterotopia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nIt contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.\r\n\r\nPlease also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.", "status": "public", "version": "1.30", "version_created": "2026-01-19T11:50:01.984105+11:00", "relevant_disorders": [ "Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AIM-1", "OCA4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16472", "gene_name": "solute carrier family 45 member 2", "omim_gene": [ "606202" ], "alias_name": null, "gene_symbol": "SLC45A2", "hgnc_symbol": "SLC45A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:33944721-33984835", "ensembl_id": "ENSG00000164175" } }, "GRch38": { "90": { "location": "5:33944616-33984730", "ensembl_id": "ENSG00000164175" } } }, "hgnc_date_symbol_changed": "2005-10-06" }, "entity_type": "gene", "entity_name": "SLC45A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11574907", "14722913", "14961451" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Albinism, oculocutaneous, type IV, MIM# 606574", "MONDO:0011683" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 37, "hash_id": null, "name": "Ocular and Oculocutaneous Albinism", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "1.16", "version_created": "2026-03-27T19:38:01.497264+11:00", "relevant_disorders": [ "Albinism HP:0001022; Ocular albinism", "HP:0001107" ], "stats": { "number_of_genes": 24, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NE", "HNE", "HLE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3309", "gene_name": "elastase, neutrophil expressed", "omim_gene": [ "130130" ], "alias_name": [ "neutrophil elastase", "leukocyte elastase", "medullasin" ], "gene_symbol": "ELANE", "hgnc_symbol": "ELANE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:851014-856242", "ensembl_id": "ENSG00000197561" } }, "GRch38": { "90": { "location": "19:851014-856247", "ensembl_id": "ENSG00000197561" } } }, "hgnc_date_symbol_changed": "2009-05-05" }, "entity_type": "gene", "entity_name": "ELANE", "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": [ "19036076", "3124897", "33968054" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:23157", "gene_name": "ALG6, alpha-1,3-glucosyltransferase", "omim_gene": [ "604566" ], "alias_name": [ "dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase" ], "gene_symbol": "ALG6", "hgnc_symbol": "ALG6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:63833261-63904233", "ensembl_id": "ENSG00000088035" } }, "GRch38": { "90": { "location": "1:63367590-63438562", "ensembl_id": "ENSG00000088035" } } }, "hgnc_date_symbol_changed": "2003-10-15" }, "entity_type": "gene", "entity_name": "ALG6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10914684", "27498540" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ic (MIM#603147)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 68, "hash_id": null, "name": "Congenital Disorders of Glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.85", "version_created": "2026-04-02T10:46:27.496905+11:00", "relevant_disorders": [ "Abnormal transferrin saturation", "HP:0040135" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4092", "gene_name": "glutamate decarboxylase 1", "omim_gene": [ "605363" ], "alias_name": null, "gene_symbol": "GAD1", "hgnc_symbol": "GAD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:171669723-171717661", "ensembl_id": "ENSG00000128683" } }, "GRch38": { "90": { "location": "2:170813213-170861151", "ensembl_id": "ENSG00000128683" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GAD1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15571623" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebral palsy, spastic quadriplegic, 1, MIM#603513" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1416", "FLJ20357", "FLJ20361" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20626", "gene_name": "chromodomain helicase DNA binding protein 7", "omim_gene": [ "608892" ], "alias_name": null, "gene_symbol": "CHD7", "hgnc_symbol": "CHD7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:61591337-61779465", "ensembl_id": "ENSG00000171316" } }, "GRch38": { "90": { "location": "8:60678778-60868028", "ensembl_id": "ENSG00000171316" } } }, "hgnc_date_symbol_changed": "2004-06-22" }, "entity_type": "gene", "entity_name": "CHD7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26411921" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 5 with or without anosmia MIM#612370", "CHARGE syndrome MIM#214800" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.47", "version_created": "2026-04-06T10:50:25.990411+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSP70-HOM", "hum70t" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5234", "gene_name": "heat shock protein family A (Hsp70) member 1 like", "omim_gene": [ "140559" ], "alias_name": null, "gene_symbol": "HSPA1L", "hgnc_symbol": "HSPA1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31777396-31783437", "ensembl_id": "ENSG00000204390" } }, "GRch38": { "90": { "location": "6:31809619-31815065", "ensembl_id": "ENSG00000204390" } } }, "hgnc_date_symbol_changed": "1989-05-12" }, "entity_type": "gene", "entity_name": "HSPA1L", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28126021" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "inflammatory bowel disease, MONDO:0005265, HSPA1L-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 123, "hash_id": null, "name": "Inflammatory bowel disease", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.126", "version_created": "2025-10-16T15:50:33.114198+11:00", "relevant_disorders": [ "Gastrointestinal inflammation", "HP:0004386" ], "stats": { "number_of_genes": 85, "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": [ "MGC22014", "hCG_40738" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28313", "gene_name": "tet methylcytosine dioxygenase 3", "omim_gene": [ "613555" ], "alias_name": null, "gene_symbol": "TET3", "hgnc_symbol": "TET3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74229840-74335303", "ensembl_id": "ENSG00000187605" } }, "GRch38": { "90": { "location": "2:73986404-74108176", "ensembl_id": "ENSG00000187605" } } }, "hgnc_date_symbol_changed": "2008-03-12" }, "entity_type": "gene", "entity_name": "TET3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 31928709" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Beck-Fahrner syndrome\tMIM#618798" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10262" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22931", "gene_name": "kelch like family member 13", "omim_gene": [ "300655" ], "alias_name": null, "gene_symbol": "KLHL13", "hgnc_symbol": "KLHL13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:117031776-117251303", "ensembl_id": "ENSG00000003096" } }, "GRch38": { "90": { "location": "X:117897813-118117340", "ensembl_id": "ENSG00000003096" } } }, "hgnc_date_symbol_changed": "2004-02-18" }, "entity_type": "gene", "entity_name": "KLHL13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 41159445" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, KLHL13-related" ], "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": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ13231", "JBTS17", "Hug" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25801", "gene_name": "chromosome 5 open reading frame 42", "omim_gene": [ "614571" ], "alias_name": null, "gene_symbol": "C5orf42", "hgnc_symbol": "C5orf42", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:37106330-37249530", "ensembl_id": "ENSG00000197603" } }, "GRch38": { "90": { "location": "5:37106228-37249428", "ensembl_id": "ENSG00000197603" } } }, "hgnc_date_symbol_changed": "2007-12-13" }, "entity_type": "gene", "entity_name": "C5orf42", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22425360", "24178751" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 17, MIM# 614615", "Orofaciodigital syndrome VI, MIM# 277170" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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:12776", "gene_name": "Wnt family member 11", "omim_gene": [ "603699" ], "alias_name": null, "gene_symbol": "WNT11", "hgnc_symbol": "WNT11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:75897369-75921780", "ensembl_id": "ENSG00000085741" } }, "GRch38": { "90": { "location": "11:76186325-76210736", "ensembl_id": "ENSG00000085741" } } }, "hgnc_date_symbol_changed": "1998-08-06" }, "entity_type": "gene", "entity_name": "WNT11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34875064" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "osteoporosis, MONDO:0005298", "osteoarthritis, MONDO:0005178", "recurrent fractures" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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": [ "perlecan", "PRCAN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5273", "gene_name": "heparan sulfate proteoglycan 2", "omim_gene": [ "142461" ], "alias_name": [ "perlecan proteoglycan" ], "gene_symbol": "HSPG2", "hgnc_symbol": "HSPG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:22148738-22263790", "ensembl_id": "ENSG00000142798" } }, "GRch38": { "90": { "location": "1:21822245-21937297", "ensembl_id": "ENSG00000142798" } } }, "hgnc_date_symbol_changed": "2007-02-16" }, "entity_type": "gene", "entity_name": "HSPG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11101850", "16927315", "11279527" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Schwartz-Jampel syndrome, type 1, MIM# 255800", "MONDO:0009717", "Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410", "MONDO:0009140" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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": [ "K2p3.1", "TASK", "TASK-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6278", "gene_name": "potassium two pore domain channel subfamily K member 3", "omim_gene": [ "603220" ], "alias_name": null, "gene_symbol": "KCNK3", "hgnc_symbol": "KCNK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:26915619-26956288", "ensembl_id": "ENSG00000171303" } }, "GRch38": { "90": { "location": "2:26692690-26733420", "ensembl_id": "ENSG00000171303" } } }, "hgnc_date_symbol_changed": "1997-12-12" }, "entity_type": "gene", "entity_name": "KCNK3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33057194" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pulmonary hypertension, primary, 4 MIM#615344", "Neurodevelopmental disorder, MONDO:0700092, KCNK3-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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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": [ "KIAA1176", "KCC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13818", "gene_name": "solute carrier family 12 member 5", "omim_gene": [ "606726" ], "alias_name": null, "gene_symbol": "SLC12A5", "hgnc_symbol": "SLC12A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:44650356-44688784", "ensembl_id": "ENSG00000124140" } }, "GRch38": { "90": { "location": "20:46021690-46060152", "ensembl_id": "ENSG00000124140" } } }, "hgnc_date_symbol_changed": "2000-11-09" }, "entity_type": "gene", "entity_name": "SLC12A5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26333769", "27436767", "24928908", "30763027", "24668262" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Developmental and epileptic encephalopathy 34, MIM# 616645", "{Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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": [ "MLTKalpha", "MLTKbeta", "ZAK", "MLTK", "MLK7", "MRK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17797", "gene_name": "mitogen-activated protein kinase kinase kinase 20", "omim_gene": [ "609479" ], "alias_name": [ "ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)", "mixed lineage kinase 7" ], "gene_symbol": "MAP3K20", "hgnc_symbol": "MAP3K20", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:173940163-174132738", "ensembl_id": "ENSG00000091436" } }, "GRch38": { "90": { "location": "2:173075435-173268010", "ensembl_id": "ENSG00000091436" } } }, "hgnc_date_symbol_changed": "2016-10-19" }, "entity_type": "gene", "entity_name": "MAP3K20", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27816943", "26755636", "38451290" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Syndromic disease, MONDO:0002254, MAP3K20-related", "Centronuclear myopathy 6 with fiber-type disproportion MIM#617760", "Split-foot malformation with mesoaxial polydactyly MIM#616890" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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": [ "CSGalNAcT-1", "FLJ11264", "ChGn" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24290", "gene_name": "chondroitin sulfate N-acetylgalactosaminyltransferase 1", "omim_gene": [ "616615" ], "alias_name": [ "chondroitin beta1,4 N-acetylgalactosaminyltransferase", "glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase" ], "gene_symbol": "CSGALNACT1", "hgnc_symbol": "CSGALNACT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:19261672-19615540", "ensembl_id": "ENSG00000147408" } }, "GRch38": { "90": { "location": "8:19404161-19758029", "ensembl_id": "ENSG00000147408" } } }, "hgnc_date_symbol_changed": "2008-02-26" }, "entity_type": "gene", "entity_name": "CSGALNACT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31705726", "31325655" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review" ], "phenotypes": [ "Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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:414", "gene_name": "aldolase, fructose-bisphosphate A", "omim_gene": [ "103850" ], "alias_name": null, "gene_symbol": "ALDOA", "hgnc_symbol": "ALDOA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:30064411-30081778", "ensembl_id": "ENSG00000149925" } }, "GRch38": { "90": { "location": "16:30053090-30070457", "ensembl_id": "ENSG00000149925" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ALDOA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7331996", "8598869", "25392908" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease XII , MIM#611881" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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": [ "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": [ "7553855" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 3, MIM# 204200", "MONDO:0008767" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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": [ "trnW" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7501", "gene_name": "mitochondrially encoded tRNA tryptophan", "omim_gene": [ "590095" ], "alias_name": null, "gene_symbol": "MT-TW", "hgnc_symbol": "MT-TW", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:5512-5579", "ensembl_id": "ENSG00000210117" } }, "GRch38": { "90": { "location": "MT:5512-5579", "ensembl_id": "ENSG00000210117" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TW", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "7695240", "9266739", "9673981", "12776230", "15054399", "18337306", "19809478", "26524491", "23841600", "30937556" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TW-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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": [ "LBA1", "KIAA0342" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29011", "gene_name": "tetratricopeptide repeat and ankyrin repeat containing 1", "omim_gene": null, "alias_name": [ "lupus brain antigen 1", "KIAA0342" ], "gene_symbol": "TRANK1", "hgnc_symbol": "TRANK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:36868311-36986548", "ensembl_id": "ENSG00000168016" } }, "GRch38": { "90": { "location": "3:36826820-36945057", "ensembl_id": "ENSG00000168016" } } }, "hgnc_date_symbol_changed": "2009-09-25" }, "entity_type": "gene", "entity_name": "TRANK1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38649688", "30504930" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Autism, MONDO:0005260" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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": [ "RPC11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14121", "gene_name": "RNA polymerase III subunit K", "omim_gene": [ "606007" ], "alias_name": null, "gene_symbol": "POLR3K", "hgnc_symbol": "POLR3K", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:96407-103628", "ensembl_id": "ENSG00000161980" } }, "GRch38": { "90": { "location": "16:46407-53628", "ensembl_id": "ENSG00000161980" } } }, "hgnc_date_symbol_changed": "2000-12-21" }, "entity_type": "gene", "entity_name": "POLR3K", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30584594", "33659930", "https://doi.org/10.1155/2024/8807171" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "POLR3-related leukodystrophy MONDO:0700282" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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": [ "FLJ38144", "hang" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24750", "gene_name": "zinc finger protein 699", "omim_gene": [ "609571" ], "alias_name": null, "gene_symbol": "ZNF699", "hgnc_symbol": "ZNF699", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:9404951-9420514", "ensembl_id": "ENSG00000196110" } }, "GRch38": { "90": { "location": "19:9294275-9309838", "ensembl_id": "ENSG00000196110" } } }, "hgnc_date_symbol_changed": "2005-08-11" }, "entity_type": "gene", "entity_name": "ZNF699", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33875846" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "DEGCAGS syndrome, MIM# 619488" ], "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": "1.4736", "version_created": "2026-04-11T11:19:25.397495+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": [ "CFD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8042", "gene_name": "nucleotide binding protein 2", "omim_gene": [ "610779" ], "alias_name": null, "gene_symbol": "NUBP2", "hgnc_symbol": "NUBP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1832902-1839192", "ensembl_id": "ENSG00000095906" } }, "GRch38": { "90": { "location": "16:1782901-1789191", "ensembl_id": "ENSG00000095906" } } }, "hgnc_date_symbol_changed": "1999-05-25" }, "entity_type": "gene", "entity_name": "NUBP2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39867373" ], "evidence": [ "Literature", "Expert Review Amber", "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ11052", "BRFU", "TFIIIB50" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17298", "gene_name": "BRF2, RNA polymerase III transcription initiation factor subunit", "omim_gene": [ "607013" ], "alias_name": null, "gene_symbol": "BRF2", "hgnc_symbol": "BRF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:37700786-37707422", "ensembl_id": "ENSG00000104221" } }, "GRch38": { "90": { "location": "8:37843268-37849904", "ensembl_id": "ENSG00000104221" } } }, "hgnc_date_symbol_changed": "2001-11-30" }, "entity_type": "gene", "entity_name": "BRF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40229899" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Syndromic disease, MONDO:0002254, BRF2-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GPRC1A", "mGlu1", "MGLUR1", "PPP1R85" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4593", "gene_name": "glutamate metabotropic receptor 1", "omim_gene": [ "604473" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 85" ], "gene_symbol": "GRM1", "hgnc_symbol": "GRM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:146348782-146758734", "ensembl_id": "ENSG00000152822" } }, "GRch38": { "90": { "location": "6:146027646-146437598", "ensembl_id": "ENSG00000152822" } } }, "hgnc_date_symbol_changed": "1993-10-21" }, "entity_type": "gene", "entity_name": "GRM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26308914", "31319223", "22901947" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Cerebellar ataxia MONDO:0000437", "Glutamate neurotransmitter disorders" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 145, "hash_id": null, "name": "Neurotransmitter Defects", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.8", "version_created": "2026-01-09T20:59:22.980216+11:00", "relevant_disorders": [ "Abnormal CSF metabolite concentration", "HP:0025454" ], "stats": { "number_of_genes": 41, "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": [ "ACONM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:118", "gene_name": "aconitase 2", "omim_gene": [ "100850" ], "alias_name": [ "aconitate hydratase, mitochondrial", "mitochondrial aconitase" ], "gene_symbol": "ACO2", "hgnc_symbol": "ACO2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:41865129-41924993", "ensembl_id": "ENSG00000100412" } }, "GRch38": { "90": { "location": "22:41469125-41528989", "ensembl_id": "ENSG00000100412" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ACO2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25351951", "22405087", "34056600" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Optic atrophy 9, MIM# 616289", "Infantile cerebellar-retinal degeneration, MIM# 614559" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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": [ "DAP12", "PLO-SL", "KARAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12449", "gene_name": "TYRO protein tyrosine kinase binding protein", "omim_gene": [ "604142" ], "alias_name": [ "killer activating receptor associated protein", "DNAX-activation protein 12" ], "gene_symbol": "TYROBP", "hgnc_symbol": "TYROBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36395303-36399197", "ensembl_id": "ENSG00000011600" } }, "GRch38": { "90": { "location": "19:35904401-35908295", "ensembl_id": "ENSG00000011600" } } }, "hgnc_date_symbol_changed": "1998-06-25" }, "entity_type": "gene", "entity_name": "TYROBP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301376", "25547154" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0020749" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 150, "hash_id": null, "name": "Osteopetrosis", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.", "status": "public", "version": "1.0", "version_created": "2025-12-22T12:45:57.007049+11:00", "relevant_disorders": [ "Increased bone mineral density", "HP:0011001" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "WIPI3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25072", "gene_name": "WD repeat domain 45B", "omim_gene": [ "609226" ], "alias_name": null, "gene_symbol": "WDR45B", "hgnc_symbol": "WDR45B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:80572438-80606429", "ensembl_id": "ENSG00000141580" } }, "GRch38": { "90": { "location": "17:82614562-82648553", "ensembl_id": "ENSG00000141580" } } }, "hgnc_date_symbol_changed": "2013-01-11" }, "entity_type": "gene", "entity_name": "WDR45B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21937992", "28503735", "27431290" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PSSALRE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1774", "gene_name": "cyclin dependent kinase 5", "omim_gene": [ "123831" ], "alias_name": null, "gene_symbol": "CDK5", "hgnc_symbol": "CDK5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:150750899-150755617", "ensembl_id": "ENSG00000164885" } }, "GRch38": { "90": { "location": "7:151053812-151058530", "ensembl_id": "ENSG00000164885" } } }, "hgnc_date_symbol_changed": "1993-07-28" }, "entity_type": "gene", "entity_name": "CDK5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25560765", "40186457" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Lissencephaly 7 with cerebellar hypoplasia \tMIM#616342" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1162", "gene_name": "FRA10A associated CGG repeat 1", "omim_gene": [ "608866" ], "alias_name": null, "gene_symbol": "FRA10AC1", "hgnc_symbol": "FRA10AC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:95427640-95462329", "ensembl_id": "ENSG00000148690" } }, "GRch38": { "90": { "location": "10:93667883-93702572", "ensembl_id": "ENSG00000148690" } } }, "hgnc_date_symbol_changed": "2010-05-25" }, "entity_type": "gene", "entity_name": "FRA10AC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34694367" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DAP13", "B17.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23987", "gene_name": "NADH:ubiquinone oxidoreductase subunit A12", "omim_gene": [ "614530" ], "alias_name": [ "complex I B17.2 subunit" ], "gene_symbol": "NDUFA12", "hgnc_symbol": "NDUFA12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:95290831-95397546", "ensembl_id": "ENSG00000184752" } }, "GRch38": { "90": { "location": "12:94897055-95003770", "ensembl_id": "ENSG00000184752" } } }, "hgnc_date_symbol_changed": "2005-07-19" }, "entity_type": "gene", "entity_name": "NDUFA12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21617257", "33715266" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 23 618244" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "trnE" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7479", "gene_name": "mitochondrially encoded tRNA glutamic acid", "omim_gene": [ "590025" ], "alias_name": null, "gene_symbol": "MT-TE", "hgnc_symbol": "MT-TE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:14674-14742", "ensembl_id": "ENSG00000210194" } }, "GRch38": { "90": { "location": "MT:14674-14742", "ensembl_id": "ENSG00000210194" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8155739", "21194154", "17715279", "23334599", "7726155", "7726154", "9353617", "15048886", "15670724", "23847141", "23334599", "17266923", "17056256" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TE-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ11856", "PAR1", "GPCR41", "D15Ertd747e", "RFVT2", "hRFT3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30224", "gene_name": "solute carrier family 52 member 2", "omim_gene": [ "607882" ], "alias_name": null, "gene_symbol": "SLC52A2", "hgnc_symbol": "SLC52A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145577795-145584932", "ensembl_id": "ENSG00000185803" } }, "GRch38": { "90": { "location": "8:144354135-144361272", "ensembl_id": "ENSG00000185803" } } }, "hgnc_date_symbol_changed": "2012-02-29" }, "entity_type": "gene", "entity_name": "SLC52A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Expert list" ], "phenotypes": [ "Brown-Vialetto-Van Laere syndrome 2, MIM#\t614707" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CHLR1", "KRG2", "CHL1", "ChlR1", "WABS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2736", "gene_name": "DEAD/H-box helicase 11", "omim_gene": [ "601150" ], "alias_name": [ "CHL1-like helicase homolog (S. cerevisiae)" ], "gene_symbol": "DDX11", "hgnc_symbol": "DDX11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:31226779-31257725", "ensembl_id": "ENSG00000013573" } }, "GRch38": { "90": { "location": "12:31073845-31104791", "ensembl_id": "ENSG00000013573" } } }, "hgnc_date_symbol_changed": "1995-12-11" }, "entity_type": "gene", "entity_name": "DDX11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 31169992" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Warsaw breakage syndrome - MIM#613398" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZP564I122", "cblC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24525", "gene_name": "methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria", "omim_gene": [ "609831" ], "alias_name": null, "gene_symbol": "MMACHC", "hgnc_symbol": "MMACHC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45965725-45976739", "ensembl_id": "ENSG00000132763" } }, "GRch38": { "90": { "location": "1:45500053-45513382", "ensembl_id": "ENSG00000132763" } } }, "hgnc_date_symbol_changed": "2006-01-12" }, "entity_type": "gene", "entity_name": "MMACHC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "NHS GMS", "Expert Review Green", "Expert list" ], "phenotypes": [ "Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 211, "hash_id": null, "name": "Atypical Haemolytic Uraemic Syndrome_MPGN", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "Renal complement disorders panel including atypical Haemolytic Uraemic Syndrome (aHUS) and Membranoproliferative Glomerulonephritis (MPGN).\r\n\r\nThis panel was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS and RMH.\r\n\r\nThe contents of this panel have been compared against the Genomics England PanelApp aHUS and MPGN panels, and discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England. 09/01/2020", "status": "public", "version": "1.0", "version_created": "2026-03-24T16:31:25.995226+11:00", "relevant_disorders": [ "Haemolytic anaemia", "HP:0001878" ], "stats": { "number_of_genes": 16, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "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" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TRIF", "TICAM-1", "MGC35334", "PRVTIRB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18348", "gene_name": "toll like receptor adaptor molecule 1", "omim_gene": [ "607601" ], "alias_name": [ "TIR domain-containing adapter molecule 1" ], "gene_symbol": "TICAM1", "hgnc_symbol": "TICAM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:4815944-4831716", "ensembl_id": "ENSG00000127666" } }, "GRch38": { "90": { "location": "19:4815932-4831704", "ensembl_id": "ENSG00000127666" } } }, "hgnc_date_symbol_changed": "2005-06-27" }, "entity_type": "gene", "entity_name": "TICAM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 231, "hash_id": null, "name": "Defects of intrinsic and innate immunity", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.36", "version_created": "2026-04-08T12:35:08.612526+10:00", "relevant_disorders": [ "Unusual infections", "HP:0032101" ], "stats": { "number_of_genes": 86, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "INM02", "HSS1", "HSM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27609", "gene_name": "ER membrane protein complex subunit 10", "omim_gene": [ "614545" ], "alias_name": [ "hematopoietic signal peptide-containing secreted 1", "hematopoietic signal peptide-containing membrane domain-containing 1" ], "gene_symbol": "EMC10", "hgnc_symbol": "EMC10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50979657-50986608", "ensembl_id": "ENSG00000161671" } }, "GRch38": { "90": { "location": "19:50476400-50490870", "ensembl_id": "ENSG00000161671" } } }, "hgnc_date_symbol_changed": "2012-05-30" }, "entity_type": "gene", "entity_name": "EMC10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33531666", "35684946", "37318954", "40150819" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "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. 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10262" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22931", "gene_name": "kelch like family member 13", "omim_gene": [ "300655" ], "alias_name": null, "gene_symbol": "KLHL13", "hgnc_symbol": "KLHL13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:117031776-117251303", "ensembl_id": "ENSG00000003096" } }, "GRch38": { "90": { "location": "X:117897813-118117340", "ensembl_id": "ENSG00000003096" } } }, "hgnc_date_symbol_changed": "2004-02-18" }, "entity_type": "gene", "entity_name": "KLHL13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 41159445" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, KLHL13-related" ], "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": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GL004" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24858", "gene_name": "mitochondrial fission factor", "omim_gene": [ "614785" ], "alias_name": null, "gene_symbol": "MFF", "hgnc_symbol": "MFF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:228189867-228222550", "ensembl_id": "ENSG00000168958" } }, "GRch38": { "90": { "location": "2:227325151-227357836", "ensembl_id": "ENSG00000168958" } } }, "hgnc_date_symbol_changed": "2008-05-29" }, "entity_type": "gene", "entity_name": "MFF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22499341", "26783368", "32181496" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PNPase", "OLD35", "old-35" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23166", "gene_name": "polyribonucleotide nucleotidyltransferase 1", "omim_gene": [ "610316" ], "alias_name": [ "polynucleotide phosphorylase", "3'-5' RNA exonuclease" ], "gene_symbol": "PNPT1", "hgnc_symbol": "PNPT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:55861400-55921045", "ensembl_id": "ENSG00000138035" } }, "GRch38": { "90": { "location": "2:55634265-55693910", "ensembl_id": "ENSG00000138035" } } }, "hgnc_date_symbol_changed": "2003-09-25" }, "entity_type": "gene", "entity_name": "PNPT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 13, MIM#614932" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:28984", "gene_name": "WASH complex subunit 5", "omim_gene": [ "610657" ], "alias_name": [ "strumpellin" ], "gene_symbol": "WASHC5", "hgnc_symbol": "WASHC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:126036502-126104082", "ensembl_id": "ENSG00000164961" } }, "GRch38": { "90": { "location": "8:125024260-125091840", "ensembl_id": "ENSG00000164961" } } }, "hgnc_date_symbol_changed": "2016-10-14" }, "entity_type": "gene", "entity_name": "WASHC5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PubMed: 24065355" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Spastic paraplegia 8, autosomal dominant, OMIM #603563", "Ritscher-Schinzel syndrome 1", "OMIM #220210" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:29217", "gene_name": "proline rich 12", "omim_gene": [ "616633" ], "alias_name": null, "gene_symbol": "PRR12", "hgnc_symbol": "PRR12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50094900-50129696", "ensembl_id": "ENSG00000126464" } }, "GRch38": { "90": { "location": "19:49591643-49626439", "ensembl_id": "ENSG00000126464" } } }, "hgnc_date_symbol_changed": "2006-02-06" }, "entity_type": "gene", "entity_name": "PRR12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29556724", "33824499" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neuroocular syndrome, MIM#619539", "Intellectual disability", "Iris abnormalities", "Complex microphthalmia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [ "intellectual disability", "iris abnormalities" ] }, { "gene_data": { "alias": [ "CDw92", "CTL1", "CHTL1", "CD92" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18798", "gene_name": "solute carrier family 44 member 1", "omim_gene": [ "606105" ], "alias_name": null, "gene_symbol": "SLC44A1", "hgnc_symbol": "SLC44A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:108006903-108201452", "ensembl_id": "ENSG00000070214" } }, "GRch38": { "90": { "location": "9:105244622-105439171", "ensembl_id": "ENSG00000070214" } } }, "hgnc_date_symbol_changed": "2005-09-06" }, "entity_type": "gene", "entity_name": "SLC44A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31855247" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Childhood-onset neurodegeneration", "progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HELO1", "dJ483K16.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21308", "gene_name": "ELOVL fatty acid elongase 5", "omim_gene": [ "611805" ], "alias_name": null, "gene_symbol": "ELOVL5", "hgnc_symbol": "ELOVL5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:53132196-53213947", "ensembl_id": "ENSG00000012660" } }, "GRch38": { "90": { "location": "6:53267398-53349179", "ensembl_id": "ENSG00000012660" } } }, "hgnc_date_symbol_changed": "2003-06-12" }, "entity_type": "gene", "entity_name": "ELOVL5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25065913" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Spinocerebellar ataxia 38, MIM#615957" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20069", "ORF1", "JBTS3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21575", "gene_name": "Abelson helper integration site 1", "omim_gene": [ "608894" ], "alias_name": [ "Jouberin" ], "gene_symbol": "AHI1", "hgnc_symbol": "AHI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:135604670-135818914", "ensembl_id": "ENSG00000135541" } }, "GRch38": { "90": { "location": "6:135283532-135497776", "ensembl_id": "ENSG00000135541" } } }, "hgnc_date_symbol_changed": "2003-08-22" }, "entity_type": "gene", "entity_name": "AHI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28442542" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "nonsyndromic retinitis pigmentosa", "Joubert syndrome 17" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.245", "version_created": "2026-03-28T13:33:23.781842+11:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "D10S64", "D10S65", "D10S66", "RP66" ], "biotype": null, "hgnc_id": "HGNC:9921", "gene_name": "retinol binding protein 3", "omim_gene": [ "180290" ], "alias_name": [ "interstitial retinol-binding protein 3" ], "gene_symbol": "RBP3", "hgnc_symbol": "RBP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:48381487-48390991", "ensembl_id": "ENSG00000107618" } }, "GRch38": { "90": { "location": "10:47348371-47357875", "ensembl_id": "ENSG00000265203" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "RBP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19074801", "25766589", "19357286", "9614228" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Retinitis pigmentosa 66, 615233" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.245", "version_created": "2026-03-28T13:33:23.781842+11:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:29071", "gene_name": "von Willebrand factor A domain containing 8", "omim_gene": [ "617509" ], "alias_name": null, "gene_symbol": "VWA8", "hgnc_symbol": "VWA8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:42140973-42535256", "ensembl_id": "ENSG00000102763" } }, "GRch38": { "90": { "location": "13:41566837-41961120", "ensembl_id": "ENSG00000102763" } } }, "hgnc_date_symbol_changed": "2012-08-02" }, "entity_type": "gene", "entity_name": "VWA8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37012052", "40638000" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Retinitis pigmentosa 97, MIM#620422" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.245", "version_created": "2026-03-28T13:33:23.781842+11:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GAN1", "KLHL16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4137", "gene_name": "gigaxonin", "omim_gene": [ "605379" ], "alias_name": [ "kelch-like family member 16" ], "gene_symbol": "GAN", "hgnc_symbol": "GAN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:81348557-81424489", "ensembl_id": "ENSG00000261609" } }, "GRch38": { "90": { "location": "16:81314952-81390884", "ensembl_id": "ENSG00000261609" } } }, "hgnc_date_symbol_changed": "1998-09-14" }, "entity_type": "gene", "entity_name": "GAN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Red", "Expert Review Red" ], "phenotypes": [ "Giant axonal neuropathy-1, MIM#256850" ], "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": [ "CAR", "SPG5C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11237", "gene_name": "SPG7, paraplegin matrix AAA peptidase subunit", "omim_gene": [ "602783" ], "alias_name": [ "paraplegin" ], "gene_symbol": "SPG7", "hgnc_symbol": "SPG7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:89557325-89624176", "ensembl_id": "ENSG00000197912" } }, "GRch38": { "90": { "location": "16:89490917-89557768", "ensembl_id": "ENSG00000197912" } } }, "hgnc_date_symbol_changed": "1998-06-25" }, "entity_type": "gene", "entity_name": "SPG7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22571692" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spastic paraplegia 7, autosomal recessive, MIM#\t607259" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DAPLE", "HkRP2", "SCA40" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19967", "gene_name": "coiled-coil domain containing 88C", "omim_gene": [ "611204" ], "alias_name": [ "Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40" ], "gene_symbol": "CCDC88C", "hgnc_symbol": "CCDC88C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:91737667-91884188", "ensembl_id": "ENSG00000015133" } }, "GRch38": { "90": { "location": "14:91271323-91417844", "ensembl_id": "ENSG00000015133" } } }, "hgnc_date_symbol_changed": "2007-05-31" }, "entity_type": "gene", "entity_name": "CCDC88C", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33602173" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Early-onset pure hereditary spastic paraplegia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0098" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1618", "gene_name": "chaperonin containing TCP1 subunit 5", "omim_gene": [ "610150" ], "alias_name": null, "gene_symbol": "CCT5", "hgnc_symbol": "CCT5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:10250033-10266524", "ensembl_id": "ENSG00000150753" } }, "GRch38": { "90": { "location": "5:10249921-10266412", "ensembl_id": "ENSG00000150753" } } }, "hgnc_date_symbol_changed": "1999-09-29" }, "entity_type": "gene", "entity_name": "CCT5", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16399879", "25124038", "25345891", "33076433", "37237456" ], "evidence": [ "Expert Review Amber", "Royal Melbourne Hospital" ], "phenotypes": [ "Neuropathy, hereditary sensory, with spastic paraplegia, 256840", "HMSN" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ33718", "FLJ39137", "Dok-7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26594", "gene_name": "docking protein 7", "omim_gene": [ "610285" ], "alias_name": null, "gene_symbol": "DOK7", "hgnc_symbol": "DOK7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:3465033-3503200", "ensembl_id": "ENSG00000175920" } }, "GRch38": { "90": { "location": "4:3463311-3494483", "ensembl_id": "ENSG00000175920" } } }, "hgnc_date_symbol_changed": "2006-08-24" }, "entity_type": "gene", "entity_name": "DOK7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31453852", "32360404", "31561939", "31449669" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myasthenic syndrome, congenital, 10\t254300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RNF205", "CMS1D", "CMS1E" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9863", "gene_name": "receptor associated protein of the synapse", "omim_gene": [ "601592" ], "alias_name": [ "rapsyn" ], "gene_symbol": "RAPSN", "hgnc_symbol": "RAPSN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47459308-47470730", "ensembl_id": "ENSG00000165917" } }, "GRch38": { "90": { "location": "11:47437757-47449178", "ensembl_id": "ENSG00000165917" } } }, "hgnc_date_symbol_changed": "1996-03-12" }, "entity_type": "gene", "entity_name": "RAPSN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11791205", "14504330", "20930056", "25194721" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326", "acute respiratory crises", "late and early onset" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV", "founder" ], "panel": { "id": 3078, "hash_id": null, "name": "Congenital Myasthenia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the Congenital Myasthenia panels developed by the Royal Melbourne Hospital and by the Victorian Clinical Genetics Services.\r\n\r\nThis panel has been compared against the Genomics England 'Congenital myasthenic syndrome' panel V2.2, with all discrepancies resolved and reciprocal provided to Genomics England.", "status": "public", "version": "1.20", "version_created": "2026-01-02T17:01:50.322172+11:00", "relevant_disorders": [ "Fatiguable weakness HP:0003473;Hypotonia HP:0001252" ], "stats": { "number_of_genes": 37, "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": [ "HLA-H" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4886", "gene_name": "hemochromatosis", "omim_gene": [ "613609" ], "alias_name": [ "high Fe" ], "gene_symbol": "HFE", "hgnc_symbol": "HFE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:26087509-26098571", "ensembl_id": "ENSG00000010704" } }, "GRch38": { "90": { "location": "6:26087281-26098343", "ensembl_id": "ENSG00000010704" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "HFE", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8696333", "10575540", "20301613", "38560130" ], "evidence": [ "Expert Review Red", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "haemochromatosis type 1 MONDO:0021001" ], "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": [ "FLK1", "VEGFR", "VEGFR2", "CD309" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6307", "gene_name": "kinase insert domain receptor", "omim_gene": [ "191306" ], "alias_name": [ "vascular endothelial growth factor receptor 2", "fetal liver kinase 1" ], "gene_symbol": "KDR", "hgnc_symbol": "KDR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:55944644-55991756", "ensembl_id": "ENSG00000128052" } }, "GRch38": { "90": { "location": "4:55078477-55125589", "ensembl_id": "ENSG00000128052" } } }, "hgnc_date_symbol_changed": "1991-07-10" }, "entity_type": "gene", "entity_name": "KDR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31980491", "29650961" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Pulmonary hypertension" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3095, "hash_id": null, "name": "Pulmonary Arterial Hypertension", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.", "status": "public", "version": "1.57", "version_created": "2026-04-07T13:46:27.864798+10:00", "relevant_disorders": [ "Pulmonary arterial hypertension", "HP:0002092" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "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": [ "KIAA0912", "SCKL5", "MCPH9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29298", "gene_name": "centrosomal protein 152", "omim_gene": [ "613529" ], "alias_name": [ "asterless" ], "gene_symbol": "CEP152", "hgnc_symbol": "CEP152", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:49005125-49103343", "ensembl_id": "ENSG00000103995" } }, "GRch38": { "90": { "location": "15:48712928-48811146", "ensembl_id": "ENSG00000103995" } } }, "hgnc_date_symbol_changed": "2005-12-01" }, "entity_type": "gene", "entity_name": "CEP152", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Seckel syndrome 5, 613823 (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:9751", "gene_name": "glutaminyl-tRNA synthetase", "omim_gene": [ "603727" ], "alias_name": [ "glutamine tRNA ligase" ], "gene_symbol": "QARS", "hgnc_symbol": "QARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49133365-49142553", "ensembl_id": "ENSG00000172053" } }, "GRch38": { "90": { "location": "3:49095932-49105135", "ensembl_id": "ENSG00000172053" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "QARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (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": [ "hCG_1645727", "NEM6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:37227", "gene_name": "kelch repeat and BTB domain containing 13", "omim_gene": [ "613727" ], "alias_name": [ "nemaline myopathy type 6" ], "gene_symbol": "KBTBD13", "hgnc_symbol": "KBTBD13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:65369154-65372276", "ensembl_id": "ENSG00000234438" } }, "GRch38": { "90": { "location": "15:65076816-65078192", "ensembl_id": "ENSG00000234438" } } }, "hgnc_date_symbol_changed": "2010-01-25" }, "entity_type": "gene", "entity_name": "KBTBD13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Nemaline myopathy" ], "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": [ "Uae1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23657", "gene_name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase", "omim_gene": [ "603824" ], "alias_name": [ "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase" ], "gene_symbol": "GNE", "hgnc_symbol": "GNE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:36214438-36277053", "ensembl_id": "ENSG00000159921" } }, "GRch38": { "90": { "location": "9:36214441-36277056", "ensembl_id": "ENSG00000159921" } } }, "hgnc_date_symbol_changed": "2003-11-28" }, "entity_type": "gene", "entity_name": "GNE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Inclusion body myopathy" ], "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": [ "KIAA1667", "LE", "BLOC3S2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15844", "gene_name": "HPS4, biogenesis of lysosomal organelles complex 3 subunit 2", "omim_gene": [ "606682" ], "alias_name": null, "gene_symbol": "HPS4", "hgnc_symbol": "HPS4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:26839389-26879803", "ensembl_id": "ENSG00000100099" } }, "GRch38": { "90": { "location": "22:26443423-26483837", "ensembl_id": "ENSG00000100099" } } }, "hgnc_date_symbol_changed": "2001-06-28" }, "entity_type": "gene", "entity_name": "HPS4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Hermansky-Pudlak syndrome 4" ], "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": [ "LRBP", "MK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7530", "gene_name": "mevalonate kinase", "omim_gene": [ "251170" ], "alias_name": [ "LH receptor mRNA-binding protein", "mevalonic aciduria" ], "gene_symbol": "MVK", "hgnc_symbol": "MVK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:110011060-110035067", "ensembl_id": "ENSG00000110921" } }, "GRch38": { "90": { "location": "12:109573255-109598117", "ensembl_id": "ENSG00000110921" } } }, "hgnc_date_symbol_changed": "1992-10-06" }, "entity_type": "gene", "entity_name": "MVK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Hyperimmunoglobulin D and periodic fever 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": [ "MYH2A", "MYHSA2", "MyHC-IIa", "MYHas8", "MyHC-2A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7572", "gene_name": "myosin heavy chain 2", "omim_gene": [ "160740" ], "alias_name": null, "gene_symbol": "MYH2", "hgnc_symbol": "MYH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:10424465-10453274", "ensembl_id": "ENSG00000125414" } }, "GRch38": { "90": { "location": "17:10521148-10549957", "ensembl_id": "ENSG00000125414" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MYH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Proximal myopathy and ophthalmoplegia" ], "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": [ "IDN3", "DKFZp434L1319", "FLJ11203", "FLJ12597", "FLJ13354", "FLJ13648", "Scc2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28862", "gene_name": "NIPBL, cohesin loading factor", "omim_gene": [ "608667" ], "alias_name": [ "sister chromatid cohesion 2 homolog (yeast)" ], "gene_symbol": "NIPBL", "hgnc_symbol": "NIPBL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:36876861-37066515", "ensembl_id": "ENSG00000164190" } }, "GRch38": { "90": { "location": "5:36876759-37066413", "ensembl_id": "ENSG00000164190" } } }, "hgnc_date_symbol_changed": "2004-07-21" }, "entity_type": "gene", "entity_name": "NIPBL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Cornelia de Lange syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FHR-3", "HLF4", "FHR3", "DOWN16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16980", "gene_name": "complement factor H related 3", "omim_gene": [ "605336" ], "alias_name": null, "gene_symbol": "CFHR3", "hgnc_symbol": "CFHR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:196743925-196763203", "ensembl_id": "ENSG00000116785" } }, "GRch38": { "90": { "location": "1:196774795-196795406", "ensembl_id": "ENSG00000116785" } } }, "hgnc_date_symbol_changed": "2006-02-28" }, "entity_type": "gene", "entity_name": "CFHR3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Haemolytic uraemic 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:10891", "gene_name": "SIX homeobox 5", "omim_gene": [ "600963" ], "alias_name": null, "gene_symbol": "SIX5", "hgnc_symbol": "SIX5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46268043-46272484", "ensembl_id": "ENSG00000177045" } }, "GRch38": { "90": { "location": "19:45764785-45769226", "ensembl_id": "ENSG00000177045" } } }, "hgnc_date_symbol_changed": "1997-05-29" }, "entity_type": "gene", "entity_name": "SIX5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Branchiootorenal syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TP", "LAP2", "LEMD4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11875", "gene_name": "thymopoietin", "omim_gene": [ "188380" ], "alias_name": [ "LEM domain containing 4" ], "gene_symbol": "TMPO", "hgnc_symbol": "TMPO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:98909290-98944157", "ensembl_id": "ENSG00000120802" } }, "GRch38": { "90": { "location": "12:98515512-98550379", "ensembl_id": "ENSG00000120802" } } }, "hgnc_date_symbol_changed": "1994-11-08" }, "entity_type": "gene", "entity_name": "TMPO", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Cardiomyopathy, dilated" ], "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": [ "bHLHe37", "N-myc", "MYCNOT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7559", "gene_name": "MYCN proto-oncogene, bHLH transcription factor", "omim_gene": [ "164840" ], "alias_name": null, "gene_symbol": "MYCN", "hgnc_symbol": "MYCN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:16080686-16087129", "ensembl_id": "ENSG00000134323" } }, "GRch38": { "90": { "location": "2:15940564-15947007", "ensembl_id": "ENSG00000134323" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MYCN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34590686" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "cleft lip with or without cleft palate, MONDO:0016034" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IDD", "MED", "EDM3", "FLJ90759", "DJ885L7.4.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2219", "gene_name": "collagen type IX alpha 3 chain", "omim_gene": [ "120270" ], "alias_name": [ "collagen type IX proteoglycan" ], "gene_symbol": "COL9A3", "hgnc_symbol": "COL9A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:61447596-61472511", "ensembl_id": "ENSG00000092758" } }, "GRch38": { "90": { "location": "20:62816244-62841159", "ensembl_id": "ENSG00000092758" } } }, "hgnc_date_symbol_changed": "1995-08-15" }, "entity_type": "gene", "entity_name": "COL9A3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24273071", "30450842", "31090205", "20301479" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Stickler syndrome, type VI, MIM# 620022" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CHOP10", "GADD153", "CHOP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2726", "gene_name": "DNA damage inducible transcript 3", "omim_gene": [ "126337" ], "alias_name": [ "C/EBP zeta" ], "gene_symbol": "DDIT3", "hgnc_symbol": "DDIT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:57910371-57914300", "ensembl_id": "ENSG00000175197" } }, "GRch38": { "90": { "location": "12:57516588-57520517", "ensembl_id": "ENSG00000175197" } } }, "hgnc_date_symbol_changed": "1991-09-11" }, "entity_type": "gene", "entity_name": "DDIT3", "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": [ "NS5ATP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4907", "gene_name": "3-hydroxyisobutyrate dehydrogenase", "omim_gene": [ "608475" ], "alias_name": null, "gene_symbol": "HIBADH", "hgnc_symbol": "HIBADH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:27565061-27702614", "ensembl_id": "ENSG00000106049" } }, "GRch38": { "90": { "location": "7:27525442-27662995", "ensembl_id": "ENSG00000106049" } } }, "hgnc_date_symbol_changed": "1999-08-05" }, "entity_type": "gene", "entity_name": "HIBADH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34176136" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "organic aciduria" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "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": [ "Car2", "CA-II", "CAII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1373", "gene_name": "carbonic anhydrase 2", "omim_gene": [ "611492" ], "alias_name": null, "gene_symbol": "CA2", "hgnc_symbol": "CA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:86376081-86393722", "ensembl_id": "ENSG00000104267" } }, "GRch38": { "90": { "location": "8:85463852-85481493", "ensembl_id": "ENSG00000104267" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "CA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730" ], "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": [ "EIEE2", "CFAP247" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11411", "gene_name": "cyclin dependent kinase like 5", "omim_gene": [ "300203" ], "alias_name": null, "gene_symbol": "CDKL5", "hgnc_symbol": "CDKL5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:18443703-18671749", "ensembl_id": "ENSG00000008086" } }, "GRch38": { "90": { "location": "X:18425583-18653629", "ensembl_id": "ENSG00000008086" } } }, "hgnc_date_symbol_changed": "2002-11-29" }, "entity_type": "gene", "entity_name": "CDKL5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19793311" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Developmental and epileptic encephalopathy 2, MIM# 300672" ], "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": 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": [ "DIK", "ANKK2", "RIP4", "PKK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:496", "gene_name": "receptor interacting serine/threonine kinase 4", "omim_gene": [ "605706" ], "alias_name": [ "protein kinase C-associated kinase", "PKC-delta-interacting protein kinase" ], "gene_symbol": "RIPK4", "hgnc_symbol": "RIPK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:43159529-43187266", "ensembl_id": "ENSG00000183421" } }, "GRch38": { "90": { "location": "21:41739369-41767106", "ensembl_id": "ENSG00000183421" } } }, "hgnc_date_symbol_changed": "2004-07-06" }, "entity_type": "gene", "entity_name": "RIPK4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28425981", "28940926", "22197489", "22197488" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4006", "gene_name": "alpha-L-fucosidase 1", "omim_gene": [ "612280" ], "alias_name": [ "α-L-fucosidase 1", "tissue fucosidase", "a-L-fucosidase 1" ], "gene_symbol": "FUCA1", "hgnc_symbol": "FUCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24171567-24194784", "ensembl_id": "ENSG00000179163" } }, "GRch38": { "90": { "location": "1:23845077-23868294", "ensembl_id": "ENSG00000179163" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FUCA1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Fucosidosis, MIM# 230000" ], "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": [ "KIAA0755" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10706", "gene_name": "SEC24 homolog D, COPII coat complex component", "omim_gene": [ "607186" ], "alias_name": null, "gene_symbol": "SEC24D", "hgnc_symbol": "SEC24D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:119643978-119759838", "ensembl_id": "ENSG00000150961" } }, "GRch38": { "90": { "location": "4:118722823-118838683", "ensembl_id": "ENSG00000150961" } } }, "hgnc_date_symbol_changed": "2000-01-07" }, "entity_type": "gene", "entity_name": "SEC24D", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30462379", "27942778", "26467156", "25683121" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Cole-Carpenter syndrome 2, MIM# 616294" ], "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": [ "Kv7.2", "ENB1", "BFNC", "KCNA11", "HNSPC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6296", "gene_name": "potassium voltage-gated channel subfamily Q member 2", "omim_gene": [ "602235" ], "alias_name": null, "gene_symbol": "KCNQ2", "hgnc_symbol": "KCNQ2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:62037542-62103993", "ensembl_id": "ENSG00000075043" } }, "GRch38": { "90": { "location": "20:63400210-63472677", "ensembl_id": "ENSG00000075043" } } }, "hgnc_date_symbol_changed": "1998-01-12" }, "entity_type": "gene", "entity_name": "KCNQ2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30712880", "31105003", "33134511" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Developmental and epileptic encephalopathy 7 (MIM#613720)", "Myokymia (MIM#121200)", "Seizures, benign neonatal, 1 (MIM#121200)" ], "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": [ "HSPC196", "JBTS16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26944", "gene_name": "transmembrane protein 138", "omim_gene": [ "614459" ], "alias_name": null, "gene_symbol": "TMEM138", "hgnc_symbol": "TMEM138", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:61129473-61136981", "ensembl_id": "ENSG00000149483" } }, "GRch38": { "90": { "location": "11:61362001-61369509", "ensembl_id": "ENSG00000149483" } } }, "hgnc_date_symbol_changed": "2006-03-15" }, "entity_type": "gene", "entity_name": "TMEM138", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22282472", "28102635", "27434533" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 16, MIM# 614465", "MONDO:0013764" ], "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": [ "RAD1", "FANCQ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3436", "gene_name": "ERCC excision repair 4, endonuclease catalytic subunit", "omim_gene": [ "133520" ], "alias_name": [ "xeroderma pigmentosum, complementation group F" ], "gene_symbol": "ERCC4", "hgnc_symbol": "ERCC4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:14014014-14046202", "ensembl_id": "ENSG00000175595" } }, "GRch38": { "90": { "location": "16:13920157-13952345", "ensembl_id": "ENSG00000175595" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ERCC4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "IBMDx Study", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fanconi anemia, complementation group Q, MIM# 615272" ], "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": [ "PDIB2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1513", "gene_name": "calsequestrin 2", "omim_gene": [ "114251" ], "alias_name": null, "gene_symbol": "CASQ2", "hgnc_symbol": "CASQ2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:116242628-116311402", "ensembl_id": "ENSG00000118729" } }, "GRch38": { "90": { "location": "1:115700007-115768781", "ensembl_id": "ENSG00000118729" } } }, "hgnc_date_symbol_changed": "1992-11-05" }, "entity_type": "gene", "entity_name": "CASQ2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34012068" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (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": [ "CX32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4283", "gene_name": "gap junction protein beta 1", "omim_gene": [ "304040" ], "alias_name": [ "Charcot-Marie-Tooth neuropathy, X-linked", "connexin 32" ], "gene_symbol": "GJB1", "hgnc_symbol": "GJB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:70435044-70445366", "ensembl_id": "ENSG00000169562" } }, "GRch38": { "90": { "location": "X:71215194-71225516", "ensembl_id": "ENSG00000169562" } } }, "hgnc_date_symbol_changed": "1990-02-12" }, "entity_type": "gene", "entity_name": "GJB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1\t(MIM#302800)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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", "39634241", "37927319", "37031378" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270" ], "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:2084", "gene_name": "caseinolytic mitochondrial matrix peptidase proteolytic subunit", "omim_gene": [ "601119" ], "alias_name": [ "ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human" ], "gene_symbol": "CLPP", "hgnc_symbol": "CLPP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:6361463-6368919", "ensembl_id": "ENSG00000125656" } }, "GRch38": { "90": { "location": "19:6361452-6368908", "ensembl_id": "ENSG00000125656" } } }, "hgnc_date_symbol_changed": "1999-09-20" }, "entity_type": "gene", "entity_name": "CLPP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23541340", "27087618", "27899912", "25254289" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Perrault syndrome 3, 614129 (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": [ "PRO19563" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18053", "gene_name": "polycystin 1 like 1, transient receptor potential channel interacting", "omim_gene": [ "609721" ], "alias_name": [ "polycystin-1L1" ], "gene_symbol": "PKD1L1", "hgnc_symbol": "PKD1L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:47814250-47988088", "ensembl_id": "ENSG00000158683" } }, "GRch38": { "90": { "location": "7:47774652-47948491", "ensembl_id": "ENSG00000158683" } } }, "hgnc_date_symbol_changed": "2002-03-21" }, "entity_type": "gene", "entity_name": "PKD1L1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33655537", "PMID: 27616478" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Heterotaxy, visceral, 8, autosomal\tMIM#617205" ], "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": [] }, { "gene_data": { "alias": [ "FLJ32069", "EPM3", "CLN14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21957", "gene_name": "potassium channel tetramerization domain containing 7", "omim_gene": [ "611725" ], "alias_name": null, "gene_symbol": "KCTD7", "hgnc_symbol": "KCTD7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:66093868-66276446", "ensembl_id": "ENSG00000243335" } }, "GRch38": { "90": { "location": "7:66628767-66649067", "ensembl_id": "ENSG00000243335" } } }, "hgnc_date_symbol_changed": "2003-10-28" }, "entity_type": "gene", "entity_name": "KCTD7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)" ], "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": [ "MDR2", "PFIC-3", "GBD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:45", "gene_name": "ATP binding cassette subfamily B member 4", "omim_gene": [ "171060" ], "alias_name": null, "gene_symbol": "ABCB4", "hgnc_symbol": "ABCB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:87031013-87109751", "ensembl_id": "ENSG00000005471" } }, "GRch38": { "90": { "location": "7:87401697-87480435", "ensembl_id": "ENSG00000005471" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "ABCB4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Cholestasis, progressive familial intrahepatic 3 MIM#602347", "disorder of bile acid metabolism", "Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972)", "Gallbladder disease 1 (MIM#600803)" ], "mode_of_inheritance": "BOTH monoallelic and 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": [ "FLJ13995", "CGI-04", "mt-TyrRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24249", "gene_name": "tyrosyl-tRNA synthetase 2", "omim_gene": [ "610957" ], "alias_name": [ "tyrosine tRNA ligase 2, mitochondrial" ], "gene_symbol": "YARS2", "hgnc_symbol": "YARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:32880424-32908836", "ensembl_id": "ENSG00000139131" } }, "GRch38": { "90": { "location": "12:32727490-32755902", "ensembl_id": "ENSG00000139131" } } }, "hgnc_date_symbol_changed": "2005-06-28" }, "entity_type": "gene", "entity_name": "YARS2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Myopathy, lactic acidosis, and sideroblastic anemia" ], "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": [ "JV15-2", "HsT17436" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6769", "gene_name": "SMAD family member 3", "omim_gene": [ "603109" ], "alias_name": null, "gene_symbol": "SMAD3", "hgnc_symbol": "SMAD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:67356101-67487533", "ensembl_id": "ENSG00000166949" } }, "GRch38": { "90": { "location": "15:67063763-67195195", "ensembl_id": "ENSG00000166949" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "SMAD3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301312" ], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Loeys-Dietz syndrome 3, MIM# 613795" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "cardiac", "treatable" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MASS", "OCTD", "SGS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3603", "gene_name": "fibrillin 1", "omim_gene": [ "134797" ], "alias_name": [ "Marfan syndrome", "asprosin" ], "gene_symbol": "FBN1", "hgnc_symbol": "FBN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:48700503-48938046", "ensembl_id": "ENSG00000166147" } }, "GRch38": { "90": { "location": "15:48408306-48645849", "ensembl_id": "ENSG00000166147" } } }, "hgnc_date_symbol_changed": "1987-09-11" }, "entity_type": "gene", "entity_name": "FBN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12598898", "1864149", "11786720", "2595640", "15161620", "25765122" ], "evidence": [ "NHS GMS", "Expert Review Green", "Expert list", "Eligibility statement prior genetic testing" ], "phenotypes": [ "Marfan syndrome, OMIM:154700" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3960, "hash_id": null, "name": "Pneumothorax", "disease_group": "Respiratory disorders", "disease_sub_group": "Structural lung disorders", "description": "This panel contains genes that are reported causes of familial/sporadic spontaneous pneumothorax, or conditions where spontaneous pneumothorax is a differential diagnosis.\r\n\r\nThis panel is based on the Genomics England Pneumothorax - familial v2.38 gene panel.", "status": "public", "version": "1.1", "version_created": "2025-04-24T14:31:41.408160+10:00", "relevant_disorders": [ "Pneumothorax", "HP:0002107" ], "stats": { "number_of_genes": 18, "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": [ "Glut9", "GLUTX", "URATv1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13446", "gene_name": "solute carrier family 2 member 9", "omim_gene": [ "606142" ], "alias_name": [ "urate voltage-driven efflux transporter 1" ], "gene_symbol": "SLC2A9", "hgnc_symbol": "SLC2A9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:9772777-10056560", "ensembl_id": "ENSG00000109667" } }, "GRch38": { "90": { "location": "4:9771153-10054936", "ensembl_id": "ENSG00000109667" } } }, "hgnc_date_symbol_changed": "2000-09-28" }, "entity_type": "gene", "entity_name": "SLC2A9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19926891", "25966807", "21256783", "19026395", "21810765" ], "evidence": [ "Expert Review Green", "KidGen_Tubulopathies v38.1.0", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypouricaemia, renal, 2, MIM# 612076" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3993, "hash_id": null, "name": "Renal Tubulopathies and related disorders", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.", "status": "public", "version": "1.26", "version_created": "2026-03-30T10:01:51.458813+11:00", "relevant_disorders": [ "Renal tubular dysfunction", "HP:0000124; Nephrolithiasis", "HP:0000787; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 134, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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" }, { "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CPTASE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2330", "gene_name": "carnitine palmitoyltransferase 2", "omim_gene": [ "600650" ], "alias_name": null, "gene_symbol": "CPT2", "hgnc_symbol": "CPT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:53662101-53679869", "ensembl_id": "ENSG00000157184" } }, "GRch38": { "90": { "location": "1:53196429-53214197", "ensembl_id": "ENSG00000157184" } } }, "hgnc_date_symbol_changed": "1991-05-09" }, "entity_type": "gene", "entity_name": "CPT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11477613", "12410208", "8358442", "8651281" ], "evidence": [ "Expert Review Green", "KidGen_MetabolicRenal v38.1.0", "Expert Review Green", "KidGen_MetabolicRenal v38.1.0", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "CPT II deficiency, lethal neonatal 608836", "CPT II deficiency, infantile 600649", "CPT II deficiency, myopathic, stress-induced 255110" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3993, "hash_id": null, "name": "Renal Tubulopathies and related disorders", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.", "status": "public", "version": "1.26", "version_created": "2026-03-30T10:01:51.458813+11:00", "relevant_disorders": [ "Renal tubular dysfunction", "HP:0000124; Nephrolithiasis", "HP:0000787; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 134, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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" }, { "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HPS9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8549", "gene_name": "biogenesis of lysosomal organelles complex 1 subunit 6", "omim_gene": [ "604310" ], "alias_name": null, "gene_symbol": "BLOC1S6", "hgnc_symbol": "BLOC1S6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:45879321-45908197", "ensembl_id": "ENSG00000104164" } }, "GRch38": { "90": { "location": "15:45587123-45615999", "ensembl_id": "ENSG00000104164" } } }, "hgnc_date_symbol_changed": "2012-08-01" }, "entity_type": "gene", "entity_name": "BLOC1S6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29054114", "33543539", "22461475", "26575419", "32245340", "10610180" ], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "Hermansky-pudlak syndrome 9, MIM# 614171" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PIG2", "TP53I2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4136", "gene_name": "guanidinoacetate N-methyltransferase", "omim_gene": [ "601240" ], "alias_name": null, "gene_symbol": "GAMT", "hgnc_symbol": "GAMT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:1397091-1401569", "ensembl_id": "ENSG00000130005" } }, "GRch38": { "90": { "location": "19:1397026-1401570", "ensembl_id": "ENSG00000130005" } } }, "hgnc_date_symbol_changed": "1996-07-19" }, "entity_type": "gene", "entity_name": "GAMT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33996490", "38469086" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cerebral creatine deficiency syndrome 2 (MIM#612736)" ], "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": [ "XH2", "XNP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:886", "gene_name": "ATRX, chromatin remodeler", "omim_gene": [ "300032", "300504" ], "alias_name": [ "RAD54 homolog (S. cerevisiae)" ], "gene_symbol": "ATRX", "hgnc_symbol": "ATRX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:76760356-77041702", "ensembl_id": "ENSG00000085224" } }, "GRch38": { "90": { "location": "X:77504878-77786269", "ensembl_id": "ENSG00000085224" } } }, "hgnc_date_symbol_changed": "1992-11-27" }, "entity_type": "gene", "entity_name": "ATRX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16813605", "16955409", "15350606", "23681356" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "LCA14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6685", "gene_name": "lecithin retinol acyltransferase", "omim_gene": [ "604863" ], "alias_name": [ "phosphatidylcholine--retinol O-acyltransferase" ], "gene_symbol": "LRAT", "hgnc_symbol": "LRAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:155548097-155674270", "ensembl_id": "ENSG00000121207" } }, "GRch38": { "90": { "location": "4:154626945-154753118", "ensembl_id": "ENSG00000121207" } } }, "hgnc_date_symbol_changed": "1999-02-16" }, "entity_type": "gene", "entity_name": "LRAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11381255" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Leber congenital amaurosis 14" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4257, "hash_id": null, "name": "Vitamin metabolism disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.7", "version_created": "2024-09-18T09:35:00.495806+10:00", "relevant_disorders": [ "Abnormality of vitamin metabolism", "HP:0100508" ], "stats": { "number_of_genes": 62, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MADR2", "JV18-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6768", "gene_name": "SMAD family member 2", "omim_gene": [ "601366" ], "alias_name": null, "gene_symbol": "SMAD2", "hgnc_symbol": "SMAD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:45357922-45457515", "ensembl_id": "ENSG00000175387" } }, "GRch38": { "90": { "location": "18:47808957-47931146", "ensembl_id": "ENSG00000175387" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "SMAD2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "32897753", "30448172" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Loeys-Dietz syndrome 6, MIM# 619656" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4323, "hash_id": null, "name": "Spontaneous coronary artery dissection", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "Spontaneous coronary artery (SCA) dissection is a rare cause of myocardial infarction, particularly in younger individuals. While the aetiology is likely to be polygenic in the majority of individuals, SCA dissection may also be indicative of an underlying systemic arteriopathy. This panel contains genes that have been reported in association with this clinical presentation.\r\n\r\nConsider also using the Aortopathy_Connective Tissue Disorders panel in conjunction.\r\n\r\nThis panel was developed in collaboration with Cardiovascular Genomics at the Victorian Heart Hospital and the Clinical Genetics & Genomics Service at Alfred Health.", "status": "public", "version": "0.58", "version_created": "2026-04-06T11:41:58.138051+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "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": [ "SEMA1", "SemD", "coll-1", "Hsema-I" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10723", "gene_name": "semaphorin 3A", "omim_gene": [ "603961" ], "alias_name": [ "sema III" ], "gene_symbol": "SEMA3A", "hgnc_symbol": "SEMA3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:83585093-84122040", "ensembl_id": "ENSG00000075213" } }, "GRch38": { "90": { "location": "7:83955777-84492724", "ensembl_id": "ENSG00000075213" } } }, "hgnc_date_symbol_changed": "1999-06-25" }, "entity_type": "gene", "entity_name": "SEMA3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22416012", "22927827", "32060892", "31200363", "33819414" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism 16 with or without anosmia, MIM# 614897" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": null }, { "gene_data": { "alias": [ "EIF2Bdelta", "EIF-2B", "DKFZP586J0119", "EIF2B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3260", "gene_name": "eukaryotic translation initiation factor 2B subunit delta", "omim_gene": [ "606687" ], "alias_name": null, "gene_symbol": "EIF2B4", "hgnc_symbol": "EIF2B4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:27587219-27593353", "ensembl_id": "ENSG00000115211" } }, "GRch38": { "90": { "location": "2:27364352-27370486", "ensembl_id": "ENSG00000115211" } } }, "hgnc_date_symbol_changed": "1998-10-16" }, "entity_type": "gene", "entity_name": "EIF2B4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11835386", "12707859", "14566705", "25600065", "26043506" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ovarioleukodystrophy, MIM# 620314" ], "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": null }, { "gene_data": { "alias": [ "AIGF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3686", "gene_name": "fibroblast growth factor 8", "omim_gene": [ "600483" ], "alias_name": [ "androgen-induced growth factor" ], "gene_symbol": "FGF8", "hgnc_symbol": "FGF8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:103529899-103535854", "ensembl_id": "ENSG00000107831" } }, "GRch38": { "90": { "location": "10:101770130-101780369", "ensembl_id": "ENSG00000107831" } } }, "hgnc_date_symbol_changed": "1995-08-15" }, "entity_type": "gene", "entity_name": "FGF8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22319038", "21832120", "20463092" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 6 with or without anosmia (612702)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NSCL2", "bHLHa34" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7818", "gene_name": "nescient helix-loop-helix 2", "omim_gene": [ "162361" ], "alias_name": null, "gene_symbol": "NHLH2", "hgnc_symbol": "NHLH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:116378998-116386538", "ensembl_id": "ENSG00000177551" } }, "GRch38": { "90": { "location": "1:115836377-115843917", "ensembl_id": "ENSG00000177551" } } }, "hgnc_date_symbol_changed": "1992-07-08" }, "entity_type": "gene", "entity_name": "NHLH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35066646" ], "evidence": [ "Expert Review", "Expert Review Red", "Expert Review Red", "Expert Review" ], "phenotypes": [ "Hypogonadotropic hypogonadism 27 without anosmia , MIM#\t619755" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] } ] }