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{ "count": 36035, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=69", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=67", "results": [ { "gene_data": { "alias": [ "TrpRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12730", "gene_name": "tryptophanyl tRNA synthetase 2, mitochondrial", "omim_gene": [ "604733" ], "alias_name": [ "tryptophan tRNA ligase 2, mitochondrial" ], "gene_symbol": "WARS2", "hgnc_symbol": "WARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:119573839-119683294", "ensembl_id": "ENSG00000116874" } }, "GRch38": { "90": { "location": "1:119031216-119140671", "ensembl_id": "ENSG00000116874" } } }, "hgnc_date_symbol_changed": "1999-06-11" }, "entity_type": "gene", "entity_name": "WARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 29120065", "34890876", "31970218" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Parkinsonism-dystonia 3, childhood-onset, MIM# 619738" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.51", "version_created": "2026-03-30T11:47:22.375379+11:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2209", "gene_name": "collagen type V alpha 1 chain", "omim_gene": [ "120215" ], "alias_name": [ "alpha 1 type V collagen" ], "gene_symbol": "COL5A1", "hgnc_symbol": "COL5A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:137533620-137736686", "ensembl_id": "ENSG00000130635" } }, "GRch38": { "90": { "location": "9:134641774-134844843", "ensembl_id": "ENSG00000130635" } } }, "hgnc_date_symbol_changed": "1992-02-26" }, "entity_type": "gene", "entity_name": "COL5A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30071989", "32938213" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ehlers-Danlos syndrome, classic type, 1, MIM#\t130000", "Fibromuscular dysplasia, multifocal, MIM# 619329" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 44, "hash_id": null, "name": "Aortopathy_Connective Tissue Disorders", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.", "status": "public", "version": "1.105", "version_created": "2026-02-05T18:09:24.690760+11:00", "relevant_disorders": [ "Aortic aneurysm", "HP:0004942;Joint dislocation", "HP:0001373;Cutis laxa", "HP:0000973; Ectopia lentis", "HP:0001083;Arachnodactyly", "HP:0001166" ], "stats": { "number_of_genes": 100, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hFKBP65", "FLJ22041", "FKBP6", "FLJ20683", "FLJ23833" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18169", "gene_name": "FK506 binding protein 10", "omim_gene": [ "607063" ], "alias_name": null, "gene_symbol": "FKBP10", "hgnc_symbol": "FKBP10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39968932-39979465", "ensembl_id": "ENSG00000141756" } }, "GRch38": { "90": { "location": "17:41812680-41823217", "ensembl_id": "ENSG00000141756" } } }, "hgnc_date_symbol_changed": "2002-03-12" }, "entity_type": "gene", "entity_name": "FKBP10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bruck syndrome 1 MIM#259450" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "THO2", "dJ506G2.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19073", "gene_name": "THO complex 2", "omim_gene": [ "300395" ], "alias_name": null, "gene_symbol": "THOC2", "hgnc_symbol": "THOC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:122734412-122866906", "ensembl_id": "ENSG00000125676" } }, "GRch38": { "90": { "location": "X:123600561-123733056", "ensembl_id": "ENSG00000125676" } } }, "hgnc_date_symbol_changed": "2002-12-09" }, "entity_type": "gene", "entity_name": "THOC2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 34976470", "37945483" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Arthrogryposis (MONDO:0008779), THOC2-related" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HRGP", "HPRG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5181", "gene_name": "histidine rich glycoprotein", "omim_gene": [ "142640" ], "alias_name": [ "histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG" ], "gene_symbol": "HRG", "hgnc_symbol": "HRG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:186378005-186396029", "ensembl_id": "ENSG00000113905" } }, "GRch38": { "90": { "location": "3:186660216-186678240", "ensembl_id": "ENSG00000113905" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "HRG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8236132", "11057869", "11057869", "29108964" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Thrombophilia 11 due to HRG deficiency, MIM# 613116" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 54, "hash_id": null, "name": "Bleeding and Platelet Disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.", "status": "public", "version": "1.77", "version_created": "2026-04-08T12:32:35.286494+10:00", "relevant_disorders": [ "Abnormal bleeding", "HP:0001892;Abnormal thrombosis", "HP:0001977" ], "stats": { "number_of_genes": 140, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0838", "GLS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4331", "gene_name": "glutaminase", "omim_gene": [ "138280" ], "alias_name": null, "gene_symbol": "GLS", "hgnc_symbol": "GLS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:191745553-191830278", "ensembl_id": "ENSG00000115419" } }, "GRch38": { "90": { "location": "2:190880827-190965552", "ensembl_id": "ENSG00000115419" } } }, "hgnc_date_symbol_changed": "1989-02-07" }, "entity_type": "gene", "entity_name": "GLS", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "30239721" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ECM39", "CDG1G" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19358", "gene_name": "ALG12, alpha-1,6-mannosyltransferase", "omim_gene": [ "607144" ], "alias_name": [ "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase" ], "gene_symbol": "ALG12", "hgnc_symbol": "ALG12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50293877-50312106", "ensembl_id": "ENSG00000182858" } }, "GRch38": { "90": { "location": "22:49900229-49918458", "ensembl_id": "ENSG00000182858" } } }, "hgnc_date_symbol_changed": "2003-10-15" }, "entity_type": "gene", "entity_name": "ALG12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31481313" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ig\t607143" ], "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": [ "KIAA0465", "ACF7", "ABP620", "KIAA1251", "MACF", "FLJ45612", "FLJ46776" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13664", "gene_name": "microtubule-actin crosslinking factor 1", "omim_gene": [ "608271" ], "alias_name": [ "actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7" ], "gene_symbol": "MACF1", "hgnc_symbol": "MACF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:39546988-39952849", "ensembl_id": "ENSG00000127603" } }, "GRch38": { "90": { "location": "1:39081316-39487177", "ensembl_id": "ENSG00000127603" } } }, "hgnc_date_symbol_changed": "2002-01-09" }, "entity_type": "gene", "entity_name": "MACF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "30471716" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Lissencephaly 9 with complex brainstem malformation (MIM#618325)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 72, "hash_id": null, "name": "Cerebellar and Pontocerebellar Hypoplasia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.", "status": "public", "version": "1.100", "version_created": "2026-04-02T11:42:58.167964+11:00", "relevant_disorders": [ "Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879" ], "stats": { "number_of_genes": 122, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dJ734P14.3", "TGY", "SCA35" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16255", "gene_name": "transglutaminase 6", "omim_gene": [ "613900" ], "alias_name": [ "spinocerebellar ataxia 35" ], "gene_symbol": "TGM6", "hgnc_symbol": "TGM6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:2361554-2413399", "ensembl_id": "ENSG00000166948" } }, "GRch38": { "90": { "location": "20:2380908-2432753", "ensembl_id": "ENSG00000166948" } } }, "hgnc_date_symbol_changed": "2004-07-07" }, "entity_type": "gene", "entity_name": "TGM6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Spinocerebellar ataxia 35, MIM#613908" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "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": [ "LIN2", "CAGH39", "FGS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1497", "gene_name": "calcium/calmodulin dependent serine protein kinase", "omim_gene": [ "300172" ], "alias_name": null, "gene_symbol": "CASK", "hgnc_symbol": "CASK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:41374187-41782716", "ensembl_id": "ENSG00000147044" } }, "GRch38": { "90": { "location": "X:41514934-41923463", "ensembl_id": "ENSG00000147044" } } }, "hgnc_date_symbol_changed": "1998-09-25" }, "entity_type": "gene", "entity_name": "CASK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33528536" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749" ], "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": 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": [ "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": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32664970", "7768185", "32664970", "10603341", "19509466", "9462741", "10603341", "12223415" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Congenital heart disease MONDO:0005453, FGF8-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.534", "version_created": "2026-03-30T13:14:35.719896+11:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 253, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6469", "gene_name": "kynureninase", "omim_gene": [ "605197" ], "alias_name": [ "L-kynurenine hydrolase" ], "gene_symbol": "KYNU", "hgnc_symbol": "KYNU", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:143635067-143799890", "ensembl_id": "ENSG00000115919" } }, "GRch38": { "90": { "location": "2:142877498-143055832", "ensembl_id": "ENSG00000115919" } } }, "hgnc_date_symbol_changed": "1999-09-20" }, "entity_type": "gene", "entity_name": "KYNU", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28792876", "33942433" ], "evidence": [ "Expert Review Green", "Expert list", "Literature" ], "phenotypes": [ "Vertebral, cardiac, renal, and limb defects syndrome 2, MIM# 617661" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.534", "version_created": "2026-03-30T13:14:35.719896+11:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 253, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZGRF7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11992", "gene_name": "DNA topoisomerase III alpha", "omim_gene": [ "601243" ], "alias_name": [ "zinc finger, GRF-type containing 7" ], "gene_symbol": "TOP3A", "hgnc_symbol": "TOP3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:18174742-18218321", "ensembl_id": "ENSG00000177302" } }, "GRch38": { "90": { "location": "17:18271428-18315007", "ensembl_id": "ENSG00000177302" } } }, "hgnc_date_symbol_changed": "1999-03-18" }, "entity_type": "gene", "entity_name": "TOP3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30057030", "33631320" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 79, "hash_id": null, "name": "Chromosome Breakage Disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.", "status": "public", "version": "1.24", "version_created": "2025-10-16T15:58:38.818741+11:00", "relevant_disorders": [ "Chromosome breakage HP:0040012" ], "stats": { "number_of_genes": 60, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC20983" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28303", "gene_name": "coiled-coil domain containing 151", "omim_gene": [ "615956" ], "alias_name": null, "gene_symbol": "CCDC151", "hgnc_symbol": "CCDC151", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:11531272-11546603", "ensembl_id": "ENSG00000198003" } }, "GRch38": { "90": { "location": "19:11420604-11435782", "ensembl_id": "ENSG00000198003" } } }, "hgnc_date_symbol_changed": "2008-04-10" }, "entity_type": "gene", "entity_name": "CCDC151", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25192045", "25224326", "32490514", "32286033", "30504913" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 30, MIM# 616037" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": 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": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Hypertrophic cardiomyopathy, MONDO:0005045" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 111, "hash_id": null, "name": "Hypertrophic cardiomyopathy", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).", "status": "public", "version": "1.25", "version_created": "2026-03-11T18:45:28.302854+11:00", "relevant_disorders": [ "Hypertrophic cardiomyopathy", "HP:0001639" ], "stats": { "number_of_genes": 64, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "A3a", "156DAG", "AGRNR", "DAG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2666", "gene_name": "dystroglycan 1", "omim_gene": [ "128239" ], "alias_name": [ "alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan" ], "gene_symbol": "DAG1", "hgnc_symbol": "DAG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49506146-49573048", "ensembl_id": "ENSG00000173402" } }, "GRch38": { "90": { "location": "3:49468703-49535618", "ensembl_id": "ENSG00000173402" } } }, "hgnc_date_symbol_changed": "1997-07-22" }, "entity_type": "gene", "entity_name": "DAG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 115, "hash_id": null, "name": "Hydrocephalus_Ventriculomegaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.", "status": "public", "version": "0.134", "version_created": "2026-01-28T12:49:29.963583+11:00", "relevant_disorders": [ "Hydrocephalus", "HP:0000238; Ventriculomegaly", "HP:0002119" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "THES" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23639", "gene_name": "tetratricopeptide repeat domain 37", "omim_gene": [ "614589" ], "alias_name": [ "thespin" ], "gene_symbol": "TTC37", "hgnc_symbol": "TTC37", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:94799599-94890711", "ensembl_id": "ENSG00000198677" } }, "GRch38": { "90": { "location": "5:95463895-95555007", "ensembl_id": "ENSG00000198677" } } }, "hgnc_date_symbol_changed": "2008-06-11" }, "entity_type": "gene", "entity_name": "TTC37", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29334452", "27302973" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Trichohepatoenteric syndrome 1, MIM#222470", "Colitis", "Pancolitis", "Inflammatory bowel disease-like phenotype", "Very Early Onset Inflammatory Bowel Disease" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:870", "gene_name": "ATPase copper transporting beta", "omim_gene": [ "606882" ], "alias_name": [ "Wilson disease", "copper pump 2", "copper-transporting ATPase 2" ], "gene_symbol": "ATP7B", "hgnc_symbol": "ATP7B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:52506809-52585630", "ensembl_id": "ENSG00000123191" } }, "GRch38": { "90": { "location": "13:51930436-52012125", "ensembl_id": "ENSG00000123191" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ATP7B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8298639", "9554743", "10790207", "7626145", "16133174" ], "evidence": [ "Expert Review Green", "Expert Review Red", "Melbourne Genomics Health Alliance", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [ "Wilson Disease (MONDO:0010200", "MIM #277900)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 126, "hash_id": null, "name": "Incidentalome", "disease_group": "", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).", "status": "public", "version": "0.433", "version_created": "2026-03-25T17:03:27.624542+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 161, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TLS", "FUS1", "hnRNP-P2", "HNRNPP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4010", "gene_name": "FUS RNA binding protein", "omim_gene": [ "137070" ], "alias_name": [ "heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma" ], "gene_symbol": "FUS", "hgnc_symbol": "FUS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:31191431-31203127", "ensembl_id": "ENSG00000089280" } }, "GRch38": { "90": { "location": "16:31180110-31194871", "ensembl_id": "ENSG00000089280" } } }, "hgnc_date_symbol_changed": "1992-11-26" }, "entity_type": "gene", "entity_name": "FUS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32941707", "32770214", "19251628", "19251627" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "adult onset neurodegenerative" ], "panel": { "id": 126, "hash_id": null, "name": "Incidentalome", "disease_group": "", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).", "status": "public", "version": "0.433", "version_created": "2026-03-25T17:03:27.624542+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 161, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MRP-S25", "FLJ00023", "DKFZp313H0817", "RPMS25" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14511", "gene_name": "mitochondrial ribosomal protein S25", "omim_gene": [ "611987" ], "alias_name": [ "mitochondrial 28S ribosomal protein S25" ], "gene_symbol": "MRPS25", "hgnc_symbol": "MRPS25", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:15083967-15106842", "ensembl_id": "ENSG00000131368" } }, "GRch38": { "90": { "location": "3:15042460-15065335", "ensembl_id": "ENSG00000131368" } } }, "hgnc_date_symbol_changed": "2001-01-26" }, "entity_type": "gene", "entity_name": "MRPS25", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31039582" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 50, MIM#\t619025", "Dyskinetic cerebral palsy", "Mitochondrial myopathy", "Partial agenesis of the corpus callosum" ], "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": [ "LORSDH", "LKRSDH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17366", "gene_name": "aminoadipate-semialdehyde synthase", "omim_gene": [ "605113" ], "alias_name": null, "gene_symbol": "AASS", "hgnc_symbol": "AASS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:121715701-121784334", "ensembl_id": "ENSG00000008311" } }, "GRch38": { "90": { "location": "7:122075647-122144280", "ensembl_id": "ENSG00000008311" } } }, "hgnc_date_symbol_changed": "2002-01-09" }, "entity_type": "gene", "entity_name": "AASS", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23570448" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperlysinemia, MIM# 238700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "disputed" ], "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": [ "SPG48", "zeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22197", "gene_name": "adaptor related protein complex 5 zeta 1 subunit", "omim_gene": [ "613653" ], "alias_name": null, "gene_symbol": "AP5Z1", "hgnc_symbol": "AP5Z1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:4815253-4833943", "ensembl_id": "ENSG00000242802" } }, "GRch38": { "90": { "location": "7:4775622-4794312", "ensembl_id": "ENSG00000242802" } } }, "hgnc_date_symbol_changed": "2012-03-20" }, "entity_type": "gene", "entity_name": "AP5Z1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26085577", "33543803", "27606357" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic paraplegia 48, autosomal recessive, MIM# 613647", "MONDO:0013342" ], "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": [ "ORF", "XAP-3", "VATPS1", "16A", "Ac45", "XAP3", "CF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:868", "gene_name": "ATPase H+ transporting accessory protein 1", "omim_gene": [ "300197" ], "alias_name": null, "gene_symbol": "ATP6AP1", "hgnc_symbol": "ATP6AP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153656978-153664862", "ensembl_id": "ENSG00000071553" } }, "GRch38": { "90": { "location": "X:154428632-154436516", "ensembl_id": "ENSG00000071553" } } }, "hgnc_date_symbol_changed": "2003-08-29" }, "entity_type": "gene", "entity_name": "ATP6AP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27231034" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency 47, MIM#300972", "Hepatopathy", "Leukopaenia", "Low copper", "Intellectual disability in some" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4736", "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": [ "iGNT", "iGAT", "iGnT", "BETA3GNTI", "B3GN-T1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15685", "gene_name": "beta-1,4-glucuronyltransferase 1", "omim_gene": [ "605517" ], "alias_name": [ "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase" ], "gene_symbol": "B4GAT1", "hgnc_symbol": "B4GAT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:66112843-66115163", "ensembl_id": "ENSG00000174684" } }, "GRch38": { "90": { "location": "11:66345372-66347692", "ensembl_id": "ENSG00000174684" } } }, "hgnc_date_symbol_changed": "2014-12-17" }, "entity_type": "gene", "entity_name": "B4GAT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23359570", "23877401" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287" ], "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": [ "E1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:983", "gene_name": "butyrylcholinesterase", "omim_gene": [ "177400" ], "alias_name": null, "gene_symbol": "BCHE", "hgnc_symbol": "BCHE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:165490692-165555260", "ensembl_id": "ENSG00000114200" } }, "GRch38": { "90": { "location": "3:165772904-165837472", "ensembl_id": "ENSG00000114200" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "BCHE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Butyrylcholinesterase deficiency, MIM# 617936" ], "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": [ "Kv10.1", "eag", "h-eag", "eag1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6250", "gene_name": "potassium voltage-gated channel subfamily H member 1", "omim_gene": [ "603305" ], "alias_name": null, "gene_symbol": "KCNH1", "hgnc_symbol": "KCNH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:210856555-211307457", "ensembl_id": "ENSG00000143473" } }, "GRch38": { "90": { "location": "1:210676823-211134180", "ensembl_id": "ENSG00000143473" } } }, "hgnc_date_symbol_changed": "1993-03-22" }, "entity_type": "gene", "entity_name": "KCNH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33811134" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "KCNH1 associated disorder MONDO:0100485", "Temple-Baraitser syndrome, OMIM:611816", "Zimmermann-Laband syndrome 1, OMIM:135500" ], "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": [ "KIAA0249" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14450", "gene_name": "lipin 2", "omim_gene": [ "605519" ], "alias_name": null, "gene_symbol": "LPIN2", "hgnc_symbol": "LPIN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:2916992-3013313", "ensembl_id": "ENSG00000101577" } }, "GRch38": { "90": { "location": "18:2916994-3013315", "ensembl_id": "ENSG00000101577" } } }, "hgnc_date_symbol_changed": "2001-01-24" }, "entity_type": "gene", "entity_name": "LPIN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15994876", "33993107", "33670882", "33314777", "31727123" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Majeed syndrome, MIM# 609628", "Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia" ], "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": [ "EAR-3", "COUP-TFI", "TCFCOUP1", "SVP44" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7975", "gene_name": "nuclear receptor subfamily 2 group F member 1", "omim_gene": [ "132890" ], "alias_name": null, "gene_symbol": "NR2F1", "hgnc_symbol": "NR2F1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:92919043-92930321", "ensembl_id": "ENSG00000175745" } }, "GRch38": { "90": { "location": "5:93583337-93594615", "ensembl_id": "ENSG00000175745" } } }, "hgnc_date_symbol_changed": "1995-03-21" }, "entity_type": "gene", "entity_name": "NR2F1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32275123" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722" ], "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": [ "SUH", "IGKJRB", "RBPJK", "KBF2", "RBP-J", "CBF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5724", "gene_name": "recombination signal binding protein for immunoglobulin kappa J region", "omim_gene": [ "147183" ], "alias_name": [ "suppressor of hairless homolog (Drosophila)" ], "gene_symbol": "RBPJ", "hgnc_symbol": "RBPJ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:26165077-26436541", "ensembl_id": "ENSG00000168214" } }, "GRch38": { "90": { "location": "4:26163455-26435131", "ensembl_id": "ENSG00000168214" } } }, "hgnc_date_symbol_changed": "2007-02-26" }, "entity_type": "gene", "entity_name": "RBPJ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22883147", "29924900" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Adams-Oliver syndrome 3, MIM# 614814" ], "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": [ "LCA12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19689", "gene_name": "retinal degeneration 3", "omim_gene": [ "180040" ], "alias_name": null, "gene_symbol": "RD3", "hgnc_symbol": "RD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:211649864-211666259", "ensembl_id": "ENSG00000198570" } }, "GRch38": { "90": { "location": "1:211476522-211492917", "ensembl_id": "ENSG00000198570" } } }, "hgnc_date_symbol_changed": "2006-11-13" }, "entity_type": "gene", "entity_name": "RD3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23308101", "22531706", "17186464" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Leber congenital amaurosis 12, MIM#610612" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11273", "gene_name": "spectrin alpha, non-erythrocytic 1", "omim_gene": [ "182810" ], "alias_name": [ "alpha-fodrin" ], "gene_symbol": "SPTAN1", "hgnc_symbol": "SPTAN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131314866-131395941", "ensembl_id": "ENSG00000197694" } }, "GRch38": { "90": { "location": "9:128552558-128633662", "ensembl_id": "ENSG00000197694" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "SPTAN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20493457", "22258530", "32811770", "33578420", "31332438", "36331550" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Developmental and epileptic encephalopathy 5, MIM# 613477", "Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related", "Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528", "Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538" ], "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": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11720", "gene_name": "tectorin alpha", "omim_gene": [ "602574" ], "alias_name": null, "gene_symbol": "TECTA", "hgnc_symbol": "TECTA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:120971882-121062202", "ensembl_id": "ENSG00000109927" } }, "GRch38": { "90": { "location": "11:121101173-121191493", "ensembl_id": "ENSG00000109927" } } }, "hgnc_date_symbol_changed": "1997-08-22" }, "entity_type": "gene", "entity_name": "TECTA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "22718023", "17136632", "31554319", "21520338" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Deafness, autosomal recessive 21 603629", "Deafness, autosomal dominant 8/12 601543" ], "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": null }, { "gene_data": { "alias": [ "Dnahc14", "HL-18", "HL18", "DKFZp781B1548", "MGC27277" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2945", "gene_name": "dynein axonemal heavy chain 14", "omim_gene": [ "603341" ], "alias_name": null, "gene_symbol": "DNAH14", "hgnc_symbol": "DNAH14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:225083964-225586996", "ensembl_id": "ENSG00000185842" } }, "GRch38": { "90": { "location": "1:224896262-225399292", "ensembl_id": "ENSG00000185842" } } }, "hgnc_date_symbol_changed": "1997-02-05" }, "entity_type": "gene", "entity_name": "DNAH14", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35438214" ], "evidence": [ "Expert Review Red", "ClinGen", "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO#0700092), DNAH14-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "disputed" ], "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": [ "RE2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23694", "gene_name": "G protein-coupled receptor 161", "omim_gene": [ "612250" ], "alias_name": null, "gene_symbol": "GPR161", "hgnc_symbol": "GPR161", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:168053997-168106821", "ensembl_id": "ENSG00000143147" } }, "GRch38": { "90": { "location": "1:168079543-168137667", "ensembl_id": "ENSG00000143147" } } }, "hgnc_date_symbol_changed": "2003-12-01" }, "entity_type": "gene", "entity_name": "GPR161", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31609649" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Medulloblastoma predisposition syndrome MIM#155255" ], "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": [] }, { "gene_data": { "alias": [ "FLJ35779", "MGC120442", "MGC120443", "MGC120444", "hPOC5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26658", "gene_name": "POC5 centriolar protein", "omim_gene": null, "alias_name": null, "gene_symbol": "POC5", "hgnc_symbol": "POC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:74969949-75013313", "ensembl_id": "ENSG00000152359" } }, "GRch38": { "90": { "location": "5:75674124-75717481", "ensembl_id": "ENSG00000152359" } } }, "hgnc_date_symbol_changed": "2010-03-26" }, "entity_type": "gene", "entity_name": "POC5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25642776", "29272404", "40590205" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ciliopathy, MONDO:0005308, POC5-related", "Scoliosis, MONDO:0005392, POC5-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4736", "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": [ "IRAK", "pelle" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6112", "gene_name": "interleukin 1 receptor associated kinase 1", "omim_gene": [ "300283" ], "alias_name": null, "gene_symbol": "IRAK1", "hgnc_symbol": "IRAK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153275951-153285431", "ensembl_id": "ENSG00000184216" } }, "GRch38": { "90": { "location": "X:154010500-154019980", "ensembl_id": "ENSG00000184216" } } }, "hgnc_date_symbol_changed": "1998-06-22" }, "entity_type": "gene", "entity_name": "IRAK1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28069966" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Susceptibility to bacterial infections" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4736", "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": [ "KLHL6", "SBBI26", "RP42" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15646", "gene_name": "kelch like family member 7", "omim_gene": [ "611119" ], "alias_name": [ "retinitis pigmentosa 42" ], "gene_symbol": "KLHL7", "hgnc_symbol": "KLHL7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:23145353-23217533", "ensembl_id": "ENSG00000122550" } }, "GRch38": { "90": { "location": "7:23105758-23177914", "ensembl_id": "ENSG00000122550" } } }, "hgnc_date_symbol_changed": "2002-05-21" }, "entity_type": "gene", "entity_name": "KLHL7", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27392078", "29074562" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "PERCHING syndrome, MIM# 617055" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4180", "gene_name": "1,4-alpha-glucan branching enzyme 1", "omim_gene": [ "607839" ], "alias_name": [ "glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV" ], "gene_symbol": "GBE1", "hgnc_symbol": "GBE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:81538850-81811312", "ensembl_id": "ENSG00000114480" } }, "GRch38": { "90": { "location": "3:81489699-81762161", "ensembl_id": "ENSG00000114480" } } }, "hgnc_date_symbol_changed": "1993-06-21" }, "entity_type": "gene", "entity_name": "GBE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8613547", "30303820" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease IV, MIM# 232500" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 139, "hash_id": null, "name": "Multiple pterygium syndrome_Fetal akinesia sequence", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains genes associated with severe perinatal disorders presenting with joint contractures, webbing and reduced fetal movements in particular those associated with:\r\n-fetal akinesia deformation sequence (FADS);\r\n-multiple pterygium syndromes;\r\n-lethal congenital contractures syndromes.\r\n\r\nPlease also consider a broader range of neurological conditions covered by the Congenital Myasthenia, Myopathy - paediatric onset, Arthrogryposis and Neuropathy panels, as well as the Intellectual disability panel.", "status": "public", "version": "1.11", "version_created": "2026-02-25T14:53:33.284450+11:00", "relevant_disorders": [ "Pterygium", "HP:0001059; Akinesia", "HP:0002304; Fetal akinesia sequence", "HP:0001989" ], "stats": { "number_of_genes": 28, "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": [ "ITBA2", "CVG5", "DXS9951E", "DXS9879E", "ESO3", "Pcc1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26058", "gene_name": "L antigen family member 3", "omim_gene": [ "300060" ], "alias_name": [ "DNA segment on chromosome X (unique) 9879 expressed sequence" ], "gene_symbol": "LAGE3", "hgnc_symbol": "LAGE3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153706028-153707596", "ensembl_id": "ENSG00000196976" } }, "GRch38": { "90": { "location": "X:154477769-154479257", "ensembl_id": "ENSG00000196976" } } }, "hgnc_date_symbol_changed": "2006-07-04" }, "entity_type": "gene", "entity_name": "LAGE3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28805828" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Galloway-Mowat syndrome 2, X-linked, MIM# 301006" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 144, "hash_id": null, "name": "Proteinuria", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.", "status": "public", "version": "0.239", "version_created": "2026-03-12T18:51:41.043263+11:00", "relevant_disorders": [ "Proteinuria HP:0000093" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0172" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27263", "gene_name": "KN motif and ankyrin repeat domains 4", "omim_gene": [ "614612" ], "alias_name": null, "gene_symbol": "KANK4", "hgnc_symbol": "KANK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:62702651-62785085", "ensembl_id": "ENSG00000132854" } }, "GRch38": { "90": { "location": "1:62236979-62319414", "ensembl_id": "ENSG00000132854" } } }, "hgnc_date_symbol_changed": "2008-01-29" }, "entity_type": "gene", "entity_name": "KANK4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25961457" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 144, "hash_id": null, "name": "Proteinuria", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.", "status": "public", "version": "0.239", "version_created": "2026-03-12T18:51:41.043263+11:00", "relevant_disorders": [ "Proteinuria HP:0000093" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDHF4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3048", "gene_name": "desmoglein 1", "omim_gene": [ "125670" ], "alias_name": null, "gene_symbol": "DSG1", "hgnc_symbol": "DSG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:28898052-28936992", "ensembl_id": "ENSG00000134760" } }, "GRch38": { "90": { "location": "18:31318089-31357029", "ensembl_id": "ENSG00000134760" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "DSG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Phox2b", "NBPhox" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9143", "gene_name": "paired like homeobox 2b", "omim_gene": [ "603851" ], "alias_name": null, "gene_symbol": "PHOX2B", "hgnc_symbol": "PHOX2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:41746099-41750987", "ensembl_id": "ENSG00000109132" } }, "GRch38": { "90": { "location": "4:41744082-41748970", "ensembl_id": "ENSG00000109132" } } }, "hgnc_date_symbol_changed": "2003-02-14" }, "entity_type": "gene", "entity_name": "PHOX2B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301600" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 162, "hash_id": null, "name": "Pulmonary Fibrosis_Interstitial Lung Disease", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.", "status": "public", "version": "1.10", "version_created": "2026-03-17T11:39:32.713501+11:00", "relevant_disorders": [ "Pulmonary fibrosis", "HP:0002206; Abnormal pulmonary interstitial morphology", "HP:0006530" ], "stats": { "number_of_genes": 97, "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" }, { "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:914", "gene_name": "beta-2-microglobulin", "omim_gene": [ "109700" ], "alias_name": null, "gene_symbol": "B2M", "hgnc_symbol": "B2M", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:45003675-45011075", "ensembl_id": "ENSG00000166710" } }, "GRch38": { "90": { "location": "15:44711477-44718877", "ensembl_id": "ENSG00000166710" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "B2M", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22693999", "37223323", "24014031", "35575118", "32875920" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "variant ABeta2M amyloidosis\tMONDO:0017810" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 191, "hash_id": null, "name": "Amyloidosis", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes that cause amyloidosis, characterised by a buildup of abnormal amyloid deposits in the heart, brain, kidneys, spleen and other parts of the body.\r\n\r\nThe panel was originally named \"Renal Amyloidosis\" and was developed by the KidGen Collaborative. It is also a consensus panel used by VCGS and RMH.", "status": "public", "version": "1.1", "version_created": "2025-07-04T20:21:06.835536+10:00", "relevant_disorders": [ "Renal amyloidosis", "HP:0001917; Amyloidosis", "HP:0011034" ], "stats": { "number_of_genes": 11, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CAM2", "CAMK2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1461", "gene_name": "calcium/calmodulin dependent protein kinase II beta", "omim_gene": [ "607707" ], "alias_name": [ "CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase" ], "gene_symbol": "CAMK2B", "hgnc_symbol": "CAMK2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:44256749-44374176", "ensembl_id": "ENSG00000058404" } }, "GRch38": { "90": { "location": "7:44217150-44334577", "ensembl_id": "ENSG00000058404" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "CAMK2B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29100089", "29560374", "32875707" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Mental retardation, autosomal dominant 54, MIM# 617799" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0929", "MINT", "SHARP", "RBM15C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17575", "gene_name": "spen family transcriptional repressor", "omim_gene": [ "613484" ], "alias_name": null, "gene_symbol": "SPEN", "hgnc_symbol": "SPEN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:16174359-16266955", "ensembl_id": "ENSG00000065526" } }, "GRch38": { "90": { "location": "1:15847864-15940460", "ensembl_id": "ENSG00000065526" } } }, "hgnc_date_symbol_changed": "2004-12-13" }, "entity_type": "gene", "entity_name": "SPEN", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33596411" ], "evidence": [ "Expert Review Amber", "Literature", "Expert Review Green", "Literature" ], "phenotypes": [ "Radio-Tartaglia syndrome MIM#619312" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12525", "gene_name": "UDP-glucose 6-dehydrogenase", "omim_gene": [ "603370" ], "alias_name": null, "gene_symbol": "UGDH", "hgnc_symbol": "UGDH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:39500375-39529931", "ensembl_id": "ENSG00000109814" } }, "GRch38": { "90": { "location": "4:39498755-39528311", "ensembl_id": "ENSG00000109814" } } }, "hgnc_date_symbol_changed": "1997-12-01" }, "entity_type": "gene", "entity_name": "UGDH", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "32001716" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Literature" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 84 - MIM #618792" ], "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": [ "KIAA1733", "dJ257A7.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20990", "gene_name": "phosphatase and actin regulator 1", "omim_gene": [ "608723" ], "alias_name": null, "gene_symbol": "PHACTR1", "hgnc_symbol": "PHACTR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:12717893-13288645", "ensembl_id": "ENSG00000112137" } }, "GRch38": { "90": { "location": "6:12716805-13290484", "ensembl_id": "ENSG00000112137" } } }, "hgnc_date_symbol_changed": "2004-05-21" }, "entity_type": "gene", "entity_name": "PHACTR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23033978", "30256902" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 70, MIM#\t618298" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1172", "DKFZp434E098", "SRA4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19304", "gene_name": "SR-related CTD associated factor 4", "omim_gene": [ "616023" ], "alias_name": null, "gene_symbol": "SCAF4", "hgnc_symbol": "SCAF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:33043346-33104388", "ensembl_id": "ENSG00000156304" } }, "GRch38": { "90": { "location": "21:31671033-31732075", "ensembl_id": "ENSG00000156304" } } }, "hgnc_date_symbol_changed": "2011-01-10" }, "entity_type": "gene", "entity_name": "SCAF4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32730804" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Fliedner-Zweier syndrome, MIM#620511" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCA31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11831", "gene_name": "thymidine kinase 2, mitochondrial", "omim_gene": [ "188250" ], "alias_name": null, "gene_symbol": "TK2", "hgnc_symbol": "TK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:66541906-66586447", "ensembl_id": "ENSG00000166548" } }, "GRch38": { "90": { "location": "16:66508003-66552544", "ensembl_id": "ENSG00000166548" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25446393", "16504786" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "iGNT", "iGAT", "iGnT", "BETA3GNTI", "B3GN-T1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15685", "gene_name": "beta-1,4-glucuronyltransferase 1", "omim_gene": [ "605517" ], "alias_name": [ "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase" ], "gene_symbol": "B4GAT1", "hgnc_symbol": "B4GAT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:66112843-66115163", "ensembl_id": "ENSG00000174684" } }, "GRch38": { "90": { "location": "11:66345372-66347692", "ensembl_id": "ENSG00000174684" } } }, "hgnc_date_symbol_changed": "2014-12-17" }, "entity_type": "gene", "entity_name": "B4GAT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23359570", "23877401", "23359570", "23217742" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287" ], "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": null }, { "gene_data": { "alias": [ "SATT", "ASCT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10942", "gene_name": "solute carrier family 1 member 4", "omim_gene": [ "600229" ], "alias_name": [ "alanine/serine/cysteine/threonine transporter" ], "gene_symbol": "SLC1A4", "hgnc_symbol": "SLC1A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:65215611-65250999", "ensembl_id": "ENSG00000115902" } }, "GRch38": { "90": { "location": "2:64988477-65023865", "ensembl_id": "ENSG00000115902" } } }, "hgnc_date_symbol_changed": "1993-12-16" }, "entity_type": "gene", "entity_name": "SLC1A4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11590", "gene_name": "T-box, brain 1", "omim_gene": [ "604616" ], "alias_name": null, "gene_symbol": "TBR1", "hgnc_symbol": "TBR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:162272605-162282381", "ensembl_id": "ENSG00000136535" } }, "GRch38": { "90": { "location": "2:161416094-161425870", "ensembl_id": "ENSG00000136535" } } }, "hgnc_date_symbol_changed": "1999-12-14" }, "entity_type": "gene", "entity_name": "TBR1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25232744", "30250039" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Intellectual developmental disorder with autism and speech delay, MIM# 606053" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8512", "gene_name": "ornithine carbamoyltransferase", "omim_gene": [ "300461" ], "alias_name": null, "gene_symbol": "OTC", "hgnc_symbol": "OTC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:38211798-38280703", "ensembl_id": "ENSG00000036473" } }, "GRch38": { "90": { "location": "X:38352545-38421450", "ensembl_id": "ENSG00000036473" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "OTC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RNASEHI", "RNHIA", "RNHL", "AGS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18518", "gene_name": "ribonuclease H2 subunit A", "omim_gene": [ "606034" ], "alias_name": null, "gene_symbol": "RNASEH2A", "hgnc_symbol": "RNASEH2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:12917394-12924452", "ensembl_id": "ENSG00000104889" } }, "GRch38": { "90": { "location": "19:12802063-12813638", "ensembl_id": "ENSG00000104889" } } }, "hgnc_date_symbol_changed": "2002-06-05" }, "entity_type": "gene", "entity_name": "RNASEH2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 229, "hash_id": null, "name": "Disorders of immune dysregulation", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.43", "version_created": "2026-04-06T13:01:39.255117+10:00", "relevant_disorders": [ "Immune dysregulation", "HP:0002958" ], "stats": { "number_of_genes": 118, "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": [ "CD212" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5971", "gene_name": "interleukin 12 receptor subunit beta 1", "omim_gene": [ "601604" ], "alias_name": null, "gene_symbol": "IL12RB1", "hgnc_symbol": "IL12RB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:18169805-18209754", "ensembl_id": "ENSG00000096996" } }, "GRch38": { "90": { "location": "19:18058995-18098944", "ensembl_id": "ENSG00000096996" } } }, "hgnc_date_symbol_changed": "1995-09-14" }, "entity_type": "gene", "entity_name": "IL12RB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9603733", "9603732", "12591909", "15736007", "23864330" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency 30, MIM# 614891" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:18648", "gene_name": "dipeptidyl peptidase 9", "omim_gene": [ "608258" ], "alias_name": null, "gene_symbol": "DPP9", "hgnc_symbol": "DPP9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:4675236-4724685", "ensembl_id": "ENSG00000142002" } }, "GRch38": { "90": { "location": "19:4675224-4724673", "ensembl_id": "ENSG00000142002" } } }, "hgnc_date_symbol_changed": "2002-05-21" }, "entity_type": "gene", "entity_name": "DPP9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36112693" ], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review Green", "Expert Review", "Expert Review Green", "Literature" ], "phenotypes": [ "Autoinflammatory syndrome MONDO:0019751, DPP9-related", "recurrent fevers", "repeated infections", "herpes susceptibility", "cytopaenias" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0343", "Bravo" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7994", "gene_name": "neuronal cell adhesion molecule", "omim_gene": [ "601581" ], "alias_name": [ "NgCAM-related cell adhesion molecule" ], "gene_symbol": "NRCAM", "hgnc_symbol": "NRCAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:107788068-108097161", "ensembl_id": "ENSG00000091129" } }, "GRch38": { "90": { "location": "7:108147623-108456717", "ensembl_id": "ENSG00000091129" } } }, "hgnc_date_symbol_changed": "1996-06-19" }, "entity_type": "gene", "entity_name": "NRCAM", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 35108495" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833" ], "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": [ "FLJ20297", "FLJ20756", "nSMase-3", "KIAA1418", "NSMASE3", "NET13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32949", "gene_name": "sphingomyelin phosphodiesterase 4", "omim_gene": [ "610457" ], "alias_name": [ "neutral sphingomyelinase-3" ], "gene_symbol": "SMPD4", "hgnc_symbol": "SMPD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:130908981-130940323", "ensembl_id": "ENSG00000136699" } }, "GRch38": { "90": { "location": "2:130151392-130182750", "ensembl_id": "ENSG00000136699" } } }, "hgnc_date_symbol_changed": "2006-07-12" }, "entity_type": "gene", "entity_name": "SMPD4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31495489" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Severe neurodevelopmental delay, microcephaly, arthrogryposis" ], "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": [ "FHF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3668", "gene_name": "fibroblast growth factor 12", "omim_gene": [ "601513" ], "alias_name": [ "fibroblast growth factor 12B", "fibroblast growth factor homologous factor 1", "myocyte-activating factor", "fibroblast growth factor FGF-12b" ], "gene_symbol": "FGF12", "hgnc_symbol": "FGF12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:191857184-192485553", "ensembl_id": "ENSG00000114279" } }, "GRch38": { "90": { "location": "3:192139395-192767764", "ensembl_id": "ENSG00000114279" } } }, "hgnc_date_symbol_changed": "1996-10-26" }, "entity_type": "gene", "entity_name": "FGF12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32645220", "27164707", "27830185", "27872899" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Developmental and epileptic encephalopathy 47, MIM# 617166" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EIF-2Balpha", "EIF-2B", "EIF2BA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3257", "gene_name": "eukaryotic translation initiation factor 2B subunit alpha", "omim_gene": [ "606686" ], "alias_name": null, "gene_symbol": "EIF2B1", "hgnc_symbol": "EIF2B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:124104953-124118313", "ensembl_id": "ENSG00000111361" } }, "GRch38": { "90": { "location": "12:123620406-123633766", "ensembl_id": "ENSG00000111361" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "EIF2B1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Leukoencephalopathy with vanishing white matter, MIM#603896" ], "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": [ "ABBA-1", "LOC92154", "ABBA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25094", "gene_name": "MTSS1L, I-BAR domain containing", "omim_gene": [ "616951" ], "alias_name": [ "actin-bundling protein with BAIAP2 homology" ], "gene_symbol": "MTSS1L", "hgnc_symbol": "MTSS1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:70695107-70719969", "ensembl_id": "ENSG00000132613" } }, "GRch38": { "90": { "location": "16:70661204-70686066", "ensembl_id": "ENSG00000132613" } } }, "hgnc_date_symbol_changed": "2008-12-05" }, "entity_type": "gene", "entity_name": "MTSS1L", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36067766", "39890443", "40698928" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "new gene name" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12017", "gene_name": "translocated promoter region, nuclear basket protein", "omim_gene": [ "189940" ], "alias_name": null, "gene_symbol": "TPR", "hgnc_symbol": "TPR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:186280784-186344825", "ensembl_id": "ENSG00000047410" } }, "GRch38": { "90": { "location": "1:186311652-186375693", "ensembl_id": "ENSG00000047410" } } }, "hgnc_date_symbol_changed": "1991-11-21" }, "entity_type": "gene", "entity_name": "TPR", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34494102" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 79, MIM# 620393" ], "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": [] }, { "gene_data": { "alias": [ "BBS8", "RP51" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20087", "gene_name": "tetratricopeptide repeat domain 8", "omim_gene": [ "608132" ], "alias_name": null, "gene_symbol": "TTC8", "hgnc_symbol": "TTC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:89290497-89344335", "ensembl_id": "ENSG00000165533" } }, "GRch38": { "90": { "location": "14:88824153-88881078", "ensembl_id": "ENSG00000165533" } } }, "hgnc_date_symbol_changed": "2002-12-17" }, "entity_type": "gene", "entity_name": "TTC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Polydactyly", "Bardet-Biedl syndrome 8, 615985" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1613", "PPP1R142" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29326", "gene_name": "solute carrier family 7 member 14", "omim_gene": [ "615720" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 142" ], "gene_symbol": "SLC7A14", "hgnc_symbol": "SLC7A14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:170177372-170303863", "ensembl_id": "ENSG00000013293" } }, "GRch38": { "90": { "location": "3:170459584-170586074", "ensembl_id": "ENSG00000013293" } } }, "hgnc_date_symbol_changed": "2005-06-06" }, "entity_type": "gene", "entity_name": "SLC7A14", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27028480", "24670872" ], "evidence": [ "Expert Review Red", "Royal Melbourne Hospital" ], "phenotypes": [ "Retinitis pigmentosa 68, 615725 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "disputed" ], "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": [ "CDHP", "PCAD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1762", "gene_name": "cadherin 3", "omim_gene": [ "114021" ], "alias_name": [ "P-cadherin" ], "gene_symbol": "CDH3", "hgnc_symbol": "CDH3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:68670092-68756519", "ensembl_id": "ENSG00000062038" } }, "GRch38": { "90": { "location": "16:68636189-68722616", "ensembl_id": "ENSG00000062038" } } }, "hgnc_date_symbol_changed": "1992-07-10" }, "entity_type": "gene", "entity_name": "CDH3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280", "Hypotrichosis, congenital, with juvenile macular dystrophy, 601553" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "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": [ "KIAA1354", "FLJ13568" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18732", "gene_name": "kelch like family member 9", "omim_gene": [ "611201" ], "alias_name": null, "gene_symbol": "KLHL9", "hgnc_symbol": "KLHL9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:21329670-21335379", "ensembl_id": "ENSG00000198642" } }, "GRch38": { "90": { "location": "9:21329671-21335380", "ensembl_id": "ENSG00000198642" } } }, "hgnc_date_symbol_changed": "2002-06-12" }, "entity_type": "gene", "entity_name": "KLHL9", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20554658", "40818927", "33458580" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "distal myopathy MONDO:0018949" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CMD1I", "CSM1", "CSM2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2770", "gene_name": "desmin", "omim_gene": [ "125660" ], "alias_name": [ "intermediate filament protein" ], "gene_symbol": "DES", "hgnc_symbol": "DES", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:220283099-220291461", "ensembl_id": "ENSG00000175084" } }, "GRch38": { "90": { "location": "2:219418377-219426739", "ensembl_id": "ENSG00000175084" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "DES", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Myopathy, myofibrillar, 1\t, MIM#601419" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3087, "hash_id": null, "name": "Gastrointestinal neuromuscular disease", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause disorders where intestinal pseudo-obstruction is a prominent feature of the condition.\r\n\r\nIt was previously known as 'Visceral Myopathy', and was developed and is maintained by RMH. It is a consensus panel used by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp \"Gastrointestinal neuromuscular disorders\" panel V1.15, 31/07/2021, with all discordances resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.26", "version_created": "2026-03-26T19:32:59.997765+11:00", "relevant_disorders": [ "Gastrointestinal dysmotility", "HP:0002579" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CD25" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6008", "gene_name": "interleukin 2 receptor subunit alpha", "omim_gene": [ "147730" ], "alias_name": null, "gene_symbol": "IL2RA", "hgnc_symbol": "IL2RA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:6052652-6104288", "ensembl_id": "ENSG00000134460" } }, "GRch38": { "90": { "location": "10:6010689-6062325", "ensembl_id": "ENSG00000134460" } } }, "hgnc_date_symbol_changed": "1990-01-22" }, "entity_type": "gene", "entity_name": "IL2RA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17196245" ], "evidence": [ "NHS GMS", "Expert Review Green", "Expert Review" ], "phenotypes": [ "Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive", "{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942", "insulin-dependent diabetes mellitus at 8-weeks", "IPEX-like syndrome", "neonatal diabetes" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7897", "gene_name": "NPC intracellular cholesterol transporter 1", "omim_gene": [ "607623" ], "alias_name": null, "gene_symbol": "NPC1", "hgnc_symbol": "NPC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:21086148-21166862", "ensembl_id": "ENSG00000141458" } }, "GRch38": { "90": { "location": "18:23506184-23586898", "ensembl_id": "ENSG00000141458" } } }, "hgnc_date_symbol_changed": "1993-04-13" }, "entity_type": "gene", "entity_name": "NPC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Niemann-Pick disease, type C1, 257220 (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": [ "WAGR", "WIT-2", "AWT1", "NPHS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12796", "gene_name": "Wilms tumor 1", "omim_gene": [ "607102" ], "alias_name": null, "gene_symbol": "WT1", "hgnc_symbol": "WT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:32409321-32457176", "ensembl_id": "ENSG00000184937" } }, "GRch38": { "90": { "location": "11:32387775-32435630", "ensembl_id": "ENSG00000184937" } } }, "hgnc_date_symbol_changed": "1989-04-13" }, "entity_type": "gene", "entity_name": "WT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26358501, 34845858" ], "evidence": [ "Expert List", "Expert Review Green" ], "phenotypes": [ "Primary ovarian failure, MONDO:0005387" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.410", "version_created": "2026-04-06T10:52:55.877866+10:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 164, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ30544", "bA120J8.2", "TTD-A", "TFB5", "TFIIH", "TTDA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21157", "gene_name": "general transcription factor IIH subunit 5", "omim_gene": [ "608780" ], "alias_name": [ "DNA repair syndrome trichothiodystrophy group A" ], "gene_symbol": "GTF2H5", "hgnc_symbol": "GTF2H5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:158589384-158620376", "ensembl_id": "ENSG00000272047" } }, "GRch38": { "90": { "location": "6:158168352-158199344", "ensembl_id": "ENSG00000272047" } } }, "hgnc_date_symbol_changed": "2004-07-16" }, "entity_type": "gene", "entity_name": "GTF2H5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31332722", "28833524", "15220921", "8213812", "24986372" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Trichothiodystrophy 3, photosensitive, 616395" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3269, "hash_id": null, "name": "Hair disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.84", "version_created": "2026-03-30T12:08:41.487037+11:00", "relevant_disorders": [ "Abnormal hair morphology", "HP:0001595" ], "stats": { "number_of_genes": 60, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1025", "TRAP240L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22962", "gene_name": "mediator complex subunit 13 like", "omim_gene": [ "608771" ], "alias_name": null, "gene_symbol": "MED13L", "hgnc_symbol": "MED13L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:116395711-116715143", "ensembl_id": "ENSG00000123066" } }, "GRch38": { "90": { "location": "12:115953872-116277338", "ensembl_id": "ENSG00000123066" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "MED13L", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Transposition of great arteries" ], "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": [ "FLJ20041" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17993", "gene_name": "transient receptor potential cation channel subfamily M member 4", "omim_gene": [ "606936" ], "alias_name": null, "gene_symbol": "TRPM4", "hgnc_symbol": "TRPM4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:49660998-49715093", "ensembl_id": "ENSG00000130529" } }, "GRch38": { "90": { "location": "19:49157741-49211836", "ensembl_id": "ENSG00000130529" } } }, "hgnc_date_symbol_changed": "2002-01-11" }, "entity_type": "gene", "entity_name": "TRPM4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Cardiac conduction disease" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:132", "gene_name": "actin beta", "omim_gene": [ "102630" ], "alias_name": null, "gene_symbol": "ACTB", "hgnc_symbol": "ACTB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:5566782-5603415", "ensembl_id": "ENSG00000075624" } }, "GRch38": { "90": { "location": "7:5527151-5563784", "ensembl_id": "ENSG00000075624" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ACTB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene", "BabySeq Category A gene" ], "phenotypes": [ "Neutrophil dysfunction and recurrent infection", "Baraitser-Winter 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": [ "querkopf", "qkf", "Morf", "MOZ2", "ZC2HC6B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17582", "gene_name": "lysine acetyltransferase 6B", "omim_gene": [ "605880" ], "alias_name": [ "MOZ-related factor" ], "gene_symbol": "KAT6B", "hgnc_symbol": "KAT6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:76585340-76792380", "ensembl_id": "ENSG00000156650" } }, "GRch38": { "90": { "location": "10:74825582-75032622", "ensembl_id": "ENSG00000156650" } } }, "hgnc_date_symbol_changed": "2011-07-21" }, "entity_type": "gene", "entity_name": "KAT6B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "SBBYSS syndrome MIM #603736", "Genitopatellar syndrome MIM #606170" ], "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": [ "D22S676", "D22S750", "TC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11653", "gene_name": "transcobalamin 2", "omim_gene": [ "613441" ], "alias_name": [ "macrocytic anemia" ], "gene_symbol": "TCN2", "hgnc_symbol": "TCN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:31002825-31023265", "ensembl_id": "ENSG00000185339" } }, "GRch38": { "90": { "location": "22:30606838-30627278", "ensembl_id": "ENSG00000185339" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TCN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10518276", "7849710", "32841161", "33023511", "30124850" ], "evidence": [ "Expert Review Green", "Yorkshire and North East GLH", "NHS GMS", "Wessex and West Midlands GLH", "North West GLH", "London South GLH" ], "phenotypes": [ "Transcobalamin II deficiency MIM# 275350", "Decreased Ig levels", "Megaloblastic anaemia", "pancytopaenia", "Reticulocytopaenia", "failure to thrive", "diarrhoea", "hypogammaglobulinaemia", "pallor", "hypotonia", "respiratory infection", "if untreated (B12) for prolonged periods results in intellectual disability" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3366, "hash_id": null, "name": "Red cell disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.", "status": "public", "version": "1.52", "version_created": "2026-03-28T15:18:36.006857+11:00", "relevant_disorders": [ "Abnormal erythrocyte morphology", "HP:0001877" ], "stats": { "number_of_genes": 116, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PTC4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8727", "gene_name": "pericentriolar material 1", "omim_gene": [ "600299" ], "alias_name": null, "gene_symbol": "PCM1", "hgnc_symbol": "PCM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:17780349-17885478", "ensembl_id": "ENSG00000078674" } }, "GRch38": { "90": { "location": "8:17922840-18029944", "ensembl_id": "ENSG00000078674" } } }, "hgnc_date_symbol_changed": "1994-09-30" }, "entity_type": "gene", "entity_name": "PCM1", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8622", "gene_name": "paired box 8", "omim_gene": [ "167415" ], "alias_name": null, "gene_symbol": "PAX8", "hgnc_symbol": "PAX8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:113973574-114036527", "ensembl_id": "ENSG00000125618" } }, "GRch38": { "90": { "location": "2:113215997-113278950", "ensembl_id": "ENSG00000125618" } } }, "hgnc_date_symbol_changed": "1998-11-16" }, "entity_type": "gene", "entity_name": "PAX8", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33434492" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700", "Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:28957", "gene_name": "ER membrane protein complex subunit 1", "omim_gene": [ "616846" ], "alias_name": null, "gene_symbol": "EMC1", "hgnc_symbol": "EMC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:19542158-19578046", "ensembl_id": "ENSG00000127463" } }, "GRch38": { "90": { "location": "1:19215664-19251552", "ensembl_id": "ENSG00000127463" } } }, "hgnc_date_symbol_changed": "2012-05-23" }, "entity_type": "gene", "entity_name": "EMC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26942288", "29271071" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875" ], "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": [ "ANOVA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7887", "gene_name": "NOVA alternative splicing regulator 2", "omim_gene": [ "601991" ], "alias_name": [ "neuro-oncological ventral antigen 3" ], "gene_symbol": "NOVA2", "hgnc_symbol": "NOVA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46436992-46476804", "ensembl_id": "ENSG00000104967" } }, "GRch38": { "90": { "location": "19:45933734-45973546", "ensembl_id": "ENSG00000104967" } } }, "hgnc_date_symbol_changed": "1998-01-16" }, "entity_type": "gene", "entity_name": "NOVA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "32197073" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM#\t618859" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:24316", "gene_name": "translational activator of cytochrome c oxidase I", "omim_gene": [ "612958" ], "alias_name": null, "gene_symbol": "TACO1", "hgnc_symbol": "TACO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:61678231-61685725", "ensembl_id": "ENSG00000136463" } }, "GRch38": { "90": { "location": "17:63600872-63608365", "ensembl_id": "ENSG00000136463" } } }, "hgnc_date_symbol_changed": "2009-06-26" }, "entity_type": "gene", "entity_name": "TACO1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19503089", "20727754", "25044680" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Mitochondrial complex IV deficiency, OMIM #220110" ], "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:1806", "gene_name": "caudal type homeobox 2", "omim_gene": [ "600297" ], "alias_name": null, "gene_symbol": "CDX2", "hgnc_symbol": "CDX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:28536274-28545276", "ensembl_id": "ENSG00000165556" } }, "GRch38": { "90": { "location": "13:27962137-27971139", "ensembl_id": "ENSG00000165556" } } }, "hgnc_date_symbol_changed": "1994-09-07" }, "entity_type": "gene", "entity_name": "CDX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29177441" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005", "Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2213", "gene_name": "collagen type VI alpha 3 chain", "omim_gene": [ "120250" ], "alias_name": null, "gene_symbol": "COL6A3", "hgnc_symbol": "COL6A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:238232646-238323018", "ensembl_id": "ENSG00000163359" } }, "GRch38": { "90": { "location": "2:237324003-237414375", "ensembl_id": "ENSG00000163359" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL6A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Bethlem myopathy 1, MIM# 158810", "Ullrich congenital muscular dystrophy 1, MIM# 254090" ], "mode_of_inheritance": "BOTH monoallelic and 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": [ "ORF20", "TTDN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16002", "gene_name": "M-phase specific PLK1 interacting protein", "omim_gene": [ "609188" ], "alias_name": null, "gene_symbol": "MPLKIP", "hgnc_symbol": "MPLKIP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:40165622-40174258", "ensembl_id": "ENSG00000168303" } }, "GRch38": { "90": { "location": "7:40126023-40134659", "ensembl_id": "ENSG00000168303" } } }, "hgnc_date_symbol_changed": "2012-03-01" }, "entity_type": "gene", "entity_name": "MPLKIP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15645389", "16977596" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Trichothiodystrophy 4, nonphotosensitive, MIM# 234050", "MONDO:0021013" ], "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": [ "FLJ22386" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29478", "gene_name": "rogdi homolog", "omim_gene": [ "614574" ], "alias_name": null, "gene_symbol": "ROGDI", "hgnc_symbol": "ROGDI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:4846969-4852951", "ensembl_id": "ENSG00000067836" } }, "GRch38": { "90": { "location": "16:4796968-4802950", "ensembl_id": "ENSG00000067836" } } }, "hgnc_date_symbol_changed": "2006-03-08" }, "entity_type": "gene", "entity_name": "ROGDI", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22424600", "23086778", "33866847" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Kohlschutter-Tonz syndrome, MIM# 226750" ], "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": [ "GFI1A", "GFI-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4237", "gene_name": "growth factor independent 1 transcriptional repressor", "omim_gene": [ "600871" ], "alias_name": null, "gene_symbol": "GFI1", "hgnc_symbol": "GFI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:92940319-92952433", "ensembl_id": "ENSG00000162676" } }, "GRch38": { "90": { "location": "1:92474762-92486876", "ensembl_id": "ENSG00000162676" } } }, "hgnc_date_symbol_changed": "1994-10-17" }, "entity_type": "gene", "entity_name": "GFI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "IBMDx Study", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107" ], "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": [ "PEBP2A2", "AMLCR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10471", "gene_name": "runt related transcription factor 1", "omim_gene": [ "151385" ], "alias_name": [ "aml1 oncogene" ], "gene_symbol": "RUNX1", "hgnc_symbol": "RUNX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:36160098-37376965", "ensembl_id": "ENSG00000159216" } }, "GRch38": { "90": { "location": "21:34787801-36004667", "ensembl_id": "ENSG00000159216" } } }, "hgnc_date_symbol_changed": "1991-08-20" }, "entity_type": "gene", "entity_name": "RUNX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "IBMDx Study", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399" ], "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": [ "MGC13379", "HSPC244", "JBTS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25018", "gene_name": "transmembrane protein 216", "omim_gene": [ "613277" ], "alias_name": null, "gene_symbol": "TMEM216", "hgnc_symbol": "TMEM216", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:61159159-61166335", "ensembl_id": "ENSG00000187049" } }, "GRch38": { "90": { "location": "11:61391687-61398863", "ensembl_id": "ENSG00000187049" } } }, "hgnc_date_symbol_changed": "2008-06-10" }, "entity_type": "gene", "entity_name": "TMEM216", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20512146" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Joubert syndrome 2, MIM#608091", "Meckel syndrome 2, MIM#603194", "Retinitis pigmentosa 98, MIM#620996", "ciliopathy MONDO:0005308" ], "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": [ "LCA8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2343", "gene_name": "crumbs 1, cell polarity complex component", "omim_gene": [ "604210" ], "alias_name": null, "gene_symbol": "CRB1", "hgnc_symbol": "CRB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:197170592-197447585", "ensembl_id": "ENSG00000134376" } }, "GRch38": { "90": { "location": "1:197268204-197478455", "ensembl_id": "ENSG00000134376" } } }, "hgnc_date_symbol_changed": "1999-06-02" }, "entity_type": "gene", "entity_name": "CRB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11231775", "11389483", "16543197" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Leber congenital amaurosis 8, 613835 (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": [ "ASAM", "FLJ22415", "ACAM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24039", "gene_name": "CXADR like membrane protein", "omim_gene": [ "611693" ], "alias_name": [ "adipocyte-specific adhesion molecule", "coxsackie- and adenovirus receptor-like membrane protein", "adipocyte adhesion molecule" ], "gene_symbol": "CLMP", "hgnc_symbol": "CLMP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:122943035-123065989", "ensembl_id": "ENSG00000166250" } }, "GRch38": { "90": { "location": "11:123069865-123195281", "ensembl_id": "ENSG00000166250" } } }, "hgnc_date_symbol_changed": "2011-01-27" }, "entity_type": "gene", "entity_name": "CLMP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22155368" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Congenital short bowel syndrome , MIM#615237" ], "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": [ "IMAGE:4942737", "DKFZp547D065", "DMP4", "G-CK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22140", "gene_name": "FAM20C, golgi associated secretory pathway kinase", "omim_gene": [ "611061" ], "alias_name": [ "dentin matrix protein 4", "golgi casein kinase" ], "gene_symbol": "FAM20C", "hgnc_symbol": "FAM20C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:192969-300711", "ensembl_id": "ENSG00000177706" } }, "GRch38": { "90": { "location": "7:192969-260745", "ensembl_id": "ENSG00000177706" } } }, "hgnc_date_symbol_changed": "2003-09-03" }, "entity_type": "gene", "entity_name": "FAM20C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32833257", "19250384", "20825432", "33676444", "32299476" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Expert list", "Expert Review Green", "Expert list" ], "phenotypes": [ "MONDO:0009821", "Raine syndrome, MIM# 259775" ], "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": [ "CHS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1968", "gene_name": "lysosomal trafficking regulator", "omim_gene": [ "606897" ], "alias_name": null, "gene_symbol": "LYST", "hgnc_symbol": "LYST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:235824341-236046940", "ensembl_id": "ENSG00000143669" } }, "GRch38": { "90": { "location": "1:235661041-235883640", "ensembl_id": "ENSG00000143669" } } }, "hgnc_date_symbol_changed": "2004-12-10" }, "entity_type": "gene", "entity_name": "LYST", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "Chediak-Higashi syndrome, MIM# 214500" ], "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": [ "DKFZp761H079", "JBTS8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25419", "gene_name": "ADP ribosylation factor like GTPase 13B", "omim_gene": [ "608922" ], "alias_name": null, "gene_symbol": "ARL13B", "hgnc_symbol": "ARL13B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:93698983-93774512", "ensembl_id": "ENSG00000169379" } }, "GRch38": { "90": { "location": "3:93980139-94055668", "ensembl_id": "ENSG00000169379" } } }, "hgnc_date_symbol_changed": "2005-11-18" }, "entity_type": "gene", "entity_name": "ARL13B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "38219074", "18674751", "25138100", "26092869", "27894351", "29255182" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission", "Mackenzie's Mission" ], "phenotypes": [ "Joubert syndrome 8, MIM# 612291" ], "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": [ "ORC1", "D13S327" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10985", "gene_name": "solute carrier family 25 member 15", "omim_gene": [ "603861" ], "alias_name": [ "ornithine transporter 1" ], "gene_symbol": "SLC25A15", "hgnc_symbol": "SLC25A15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:41363548-41384247", "ensembl_id": "ENSG00000102743" } }, "GRch38": { "90": { "location": "13:40789412-40810111", "ensembl_id": "ENSG00000102743" } } }, "hgnc_date_symbol_changed": "1999-06-28" }, "entity_type": "gene", "entity_name": "SLC25A15", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10369256", "19242930" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970" ], "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": [ "RET1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1975", "gene_name": "visual system homeobox 2", "omim_gene": [ "142993" ], "alias_name": null, "gene_symbol": "VSX2", "hgnc_symbol": "VSX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:74706175-74729441", "ensembl_id": "ENSG00000119614" } }, "GRch38": { "90": { "location": "14:74239472-74262738", "ensembl_id": "ENSG00000119614" } } }, "hgnc_date_symbol_changed": "2007-08-21" }, "entity_type": "gene", "entity_name": "VSX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15257456", "8630490", "17661825", "3378363", "10932181" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microphthalmia with coloboma 3, MIM# 610092", "Microphthalmia, isolated 2, MIM# 610093" ], "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": [ "HSP47", "colligen" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1546", "gene_name": "serpin family H member 1", "omim_gene": [ "600943" ], "alias_name": [ "collagen binding protein 1" ], "gene_symbol": "SERPINH1", "hgnc_symbol": "SERPINH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:75273101-75283828", "ensembl_id": "ENSG00000149257" } }, "GRch38": { "90": { "location": "11:75562056-75572783", "ensembl_id": "ENSG00000149257" } } }, "hgnc_date_symbol_changed": "1994-01-10" }, "entity_type": "gene", "entity_name": "SERPINH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20188343", "25510505", "31179625", "29520608", "33524049" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Osteogenesis imperfecta, type X, MIM# 613848", "Osteogenesis imperfecta type 10, MONDO:0013459" ], "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": [ "HGPS", "MADA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6636", "gene_name": "lamin A/C", "omim_gene": [ "150330" ], "alias_name": [ "mandibuloacral dysplasia type A" ], "gene_symbol": "LMNA", "hgnc_symbol": "LMNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156052364-156109880", "ensembl_id": "ENSG00000160789" } }, "GRch38": { "90": { "location": "1:156082573-156140089", "ensembl_id": "ENSG00000160789" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "LMNA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "18364375", "19283854", "39595984" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Laminopathy", "Female infertility, premature ovarian insufficiency" ], "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": [ "MCAD", "MCADH", "ACAD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:89", "gene_name": "acyl-CoA dehydrogenase medium chain", "omim_gene": [ "607008" ], "alias_name": [ "medium-chain acyl-CoA dehydrogenase" ], "gene_symbol": "ACADM", "hgnc_symbol": "ACADM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:76190036-76253260", "ensembl_id": "ENSG00000117054" } }, "GRch38": { "90": { "location": "1:75724347-75787575", "ensembl_id": "ENSG00000117054" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ACADM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Acyl-CoA dehydrogenase, medium chain, deficiency of\tMIM# 201450" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6595", "gene_name": "LIM homeobox 3", "omim_gene": [ "600577" ], "alias_name": null, "gene_symbol": "LHX3", "hgnc_symbol": "LHX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139088096-139096955", "ensembl_id": "ENSG00000107187" } }, "GRch38": { "90": { "location": "9:136196250-136205109", "ensembl_id": "ENSG00000107187" } } }, "hgnc_date_symbol_changed": "2000-03-22" }, "entity_type": "gene", "entity_name": "LHX3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Pituitary hormone deficiency, combined, 3 (MIM#221750)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Ptop", "Pip1", "Tpp1", "Tint1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25070", "gene_name": "ACD, shelterin complex subunit and telomerase recruitment factor", "omim_gene": [ "609377" ], "alias_name": [ "TIN2 interacting protein 1", "POT1 and TIN2 organizing protein" ], "gene_symbol": "ACD", "hgnc_symbol": "ACD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67691415-67694713", "ensembl_id": "ENSG00000102977" } }, "GRch38": { "90": { "location": "16:67657512-67660815", "ensembl_id": "ENSG00000102977" } } }, "hgnc_date_symbol_changed": "2005-01-04" }, "entity_type": "gene", "entity_name": "ACD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27807141", "31515401", "30995915", "27528712", "25205116", "24316971", "30064976", "33446513", "25233904" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "ACD-related short telomere syndrome MONDO:0100569" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "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": [] } ] }