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GET /api/v1/entities/?format=api&page=342
{ "count": 36026, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=343", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=341", "results": [ { "gene_data": { "alias": [ "B3GNT-2", "BETA3GNT", "B3GN-T2", "B3GN-T1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15629", "gene_name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2", "omim_gene": [ "605581" ], "alias_name": null, "gene_symbol": "B3GNT2", "hgnc_symbol": "B3GNT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:62423248-62451866", "ensembl_id": "ENSG00000170340" } }, "GRch38": { "90": { "location": "2:62196113-62224731", "ensembl_id": "ENSG00000170340" } } }, "hgnc_date_symbol_changed": "2006-04-12" }, "entity_type": "gene", "entity_name": "B3GNT2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23359570", "23877401" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Brain Malformations Flagship" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 15, "hash_id": null, "name": "Lissencephaly and Band Heterotopia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nIt contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.\r\n\r\nPlease also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.", "status": "public", "version": "1.30", "version_created": "2026-01-19T11:50:01.984105+11:00", "relevant_disorders": [ "Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp313L0718" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4620", "gene_name": "gelsolin", "omim_gene": [ "137350" ], "alias_name": [ "amyloidosis, Finnish type" ], "gene_symbol": "GSN", "hgnc_symbol": "GSN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:123970072-124095121", "ensembl_id": "ENSG00000148180" } }, "GRch38": { "90": { "location": "9:121207794-121332843", "ensembl_id": "ENSG00000148180" } } }, "hgnc_date_symbol_changed": "1988-07-19" }, "entity_type": "gene", "entity_name": "GSN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Amyloidosis, Finnish type MIM#105120" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 24, "hash_id": null, "name": "Early-onset Dementia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.58", "version_created": "2026-03-31T16:43:37.497568+11:00", "relevant_disorders": [ "Cognitive impairment", "HP:0100543" ], "stats": { "number_of_genes": 96, "number_of_strs": 6, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": null, "hgnc_id": "HGNC:32925", "gene_name": "ataxin 8", "omim_gene": [ "613289" ], "alias_name": null, "gene_symbol": "ATXN8", "hgnc_symbol": "ATXN8", "hgnc_release": "2017-11-03", "ensembl_genes": {}, "hgnc_date_symbol_changed": "2006-07-18" }, "entity_type": "gene", "entity_name": "ATXN8", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 24285970" ], "evidence": [ "Expert Review Removed", "Literature" ], "phenotypes": [ "Spinocerebellar 8", "Parkinsonism", "OMIM 608768" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "STR" ], "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": [ "C-P4Halpha(I)" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8546", "gene_name": "prolyl 4-hydroxylase subunit alpha 1", "omim_gene": [ "176710" ], "alias_name": [ "collagen prolyl 4-hydroxylase alpha(I)" ], "gene_symbol": "P4HA1", "hgnc_symbol": "P4HA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:74766975-74856732", "ensembl_id": "ENSG00000122884" } }, "GRch38": { "90": { "location": "10:73007217-73096974", "ensembl_id": "ENSG00000122884" } } }, "hgnc_date_symbol_changed": "1999-02-23" }, "entity_type": "gene", "entity_name": "P4HA1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28419360" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Joint hypermobility", "Contractures", "Hypotonia", "Mild skeletal dysplasia without bone fragility", "High myopia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 44, "hash_id": null, "name": "Aortopathy_Connective Tissue Disorders", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.", "status": "public", "version": "1.105", "version_created": "2026-02-05T18:09:24.690760+11:00", "relevant_disorders": [ "Aortic aneurysm", "HP:0004942;Joint dislocation", "HP:0001373;Cutis laxa", "HP:0000973; Ectopia lentis", "HP:0001083;Arachnodactyly", "HP:0001166" ], "stats": { "number_of_genes": 100, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DYNII", "DYN2", "CMTDIB", "CMTDI1", "DI-CMTB", "CMT2M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2974", "gene_name": "dynamin 2", "omim_gene": [ "602378" ], "alias_name": [ "dynamin II", "cytoskeletal protein" ], "gene_symbol": "DNM2", "hgnc_symbol": "DNM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:10828755-10944164", "ensembl_id": "ENSG00000079805" } }, "GRch38": { "90": { "location": "19:10718079-10833488", "ensembl_id": "ENSG00000079805" } } }, "hgnc_date_symbol_changed": "1996-10-11" }, "entity_type": "gene", "entity_name": "DNM2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23092955" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Lethal congenital contracture syndrome 5, MIM# 615368" ], "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": [ "KIAA0976", "Lmnt1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23319", "gene_name": "netrin G1", "omim_gene": [ "608818" ], "alias_name": [ "netrin G1f", "Netrin-G1" ], "gene_symbol": "NTNG1", "hgnc_symbol": "NTNG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:107682629-108026080", "ensembl_id": "ENSG00000162631" } }, "GRch38": { "90": { "location": "1:107140007-107483458", "ensembl_id": "ENSG00000162631" } } }, "hgnc_date_symbol_changed": "2003-12-02" }, "entity_type": "gene", "entity_name": "NTNG1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.248", "version_created": "2026-03-19T12:51:18.584438+11:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Kv11.1", "HERG", "erg1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6251", "gene_name": "potassium voltage-gated channel subfamily H member 2", "omim_gene": [ "152427" ], "alias_name": null, "gene_symbol": "KCNH2", "hgnc_symbol": "KCNH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:150642049-150675403", "ensembl_id": "ENSG00000055118" } }, "GRch38": { "90": { "location": "7:150944961-150978315", "ensembl_id": "ENSG00000055118" } } }, "hgnc_date_symbol_changed": "1993-03-22" }, "entity_type": "gene", "entity_name": "KCNH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Brugada syndrome, MONDO:0015263" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 60, "hash_id": null, "name": "Brugada syndrome", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.46", "version_created": "2026-02-06T09:29:49.325637+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 23, "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": [ "FKSG32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25461", "gene_name": "pseudouridylate synthase 3", "omim_gene": [ "616283" ], "alias_name": null, "gene_symbol": "PUS3", "hgnc_symbol": "PUS3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:125763381-125773116", "ensembl_id": "ENSG00000110060" } }, "GRch38": { "90": { "location": "11:125893485-125903221", "ensembl_id": "ENSG00000110060" } } }, "hgnc_date_symbol_changed": "2004-08-23" }, "entity_type": "gene", "entity_name": "PUS3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27055666", "30308082", "30697592", "31444731" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal recessive 55 (MIM#617051)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 72, "hash_id": null, "name": "Cerebellar and Pontocerebellar Hypoplasia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.", "status": "public", "version": "1.100", "version_created": "2026-04-02T11:42:58.167964+11:00", "relevant_disorders": [ "Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879" ], "stats": { "number_of_genes": 122, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4081", "gene_name": "gamma-aminobutyric acid type A receptor beta1 subunit", "omim_gene": [ "137190" ], "alias_name": [ "GABA(A) receptor, beta 1" ], "gene_symbol": "GABRB1", "hgnc_symbol": "GABRB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:46995740-47428461", "ensembl_id": "ENSG00000163288" } }, "GRch38": { "90": { "location": "4:46993723-47426444", "ensembl_id": "ENSG00000163288" } } }, "hgnc_date_symbol_changed": "1989-06-02" }, "entity_type": "gene", "entity_name": "GABRB1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34540776" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy MIM#617153" ], "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": [ "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": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Essential tremor, MIM#614782" ], "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": [ "querkopf", "qkf", "Morf", "MOZ2", "ZC2HC6B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17582", "gene_name": "lysine acetyltransferase 6B", "omim_gene": [ "605880" ], "alias_name": [ "MOZ-related factor" ], "gene_symbol": "KAT6B", "hgnc_symbol": "KAT6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:76585340-76792380", "ensembl_id": "ENSG00000156650" } }, "GRch38": { "90": { "location": "10:74825582-75032622", "ensembl_id": "ENSG00000156650" } } }, "hgnc_date_symbol_changed": "2011-07-21" }, "entity_type": "gene", "entity_name": "KAT6B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "SBBYSS syndrome, MIM#603736", "Genitopatellar syndrome, MIM#606170" ], "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": [ "Wip1", "PP2C-DELTA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9277", "gene_name": "protein phosphatase, Mg2+/Mn2+ dependent 1D", "omim_gene": [ "605100" ], "alias_name": [ "wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform" ], "gene_symbol": "PPM1D", "hgnc_symbol": "PPM1D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:58677544-58741849", "ensembl_id": "ENSG00000170836" } }, "GRch38": { "90": { "location": "17:60600183-60666280", "ensembl_id": "ENSG00000170836" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "PPM1D", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Jansen-de Vries syndrome, MIM#617450" ], "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": [ "FLJ11061", "FLJ13244", "MGC71859" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7608", "gene_name": "myosin IXA", "omim_gene": [ "604875" ], "alias_name": null, "gene_symbol": "MYO9A", "hgnc_symbol": "MYO9A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:72114632-72410918", "ensembl_id": "ENSG00000066933" } }, "GRch38": { "90": { "location": "15:71822289-72118577", "ensembl_id": "ENSG00000066933" } } }, "hgnc_date_symbol_changed": "1996-04-04" }, "entity_type": "gene", "entity_name": "MYO9A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Myasthenic syndrome, congenital, 24, presynaptic, MIM#618198" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MYOP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23246", "gene_name": "myopalladin", "omim_gene": [ "608517" ], "alias_name": [ "sarcomeric protein myopalladin, 145 kDa" ], "gene_symbol": "MYPN", "hgnc_symbol": "MYPN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:69865912-69971774", "ensembl_id": "ENSG00000138347" } }, "GRch38": { "90": { "location": "10:68106117-68212017", "ensembl_id": "ENSG00000138347" } } }, "hgnc_date_symbol_changed": "2004-02-03" }, "entity_type": "gene", "entity_name": "MYPN", "confidence_level": "1", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "30681346", "20801532", "22286171" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hypertrophic cardiomyopathy, MONDO:0005045" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": null }, { "gene_data": { "alias": [ "PRSC", "CRN", "ATC2", "Lrp4", "TMPRSS10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19012", "gene_name": "corin, serine peptidase", "omim_gene": [ "605236" ], "alias_name": null, "gene_symbol": "CORIN", "hgnc_symbol": "CORIN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:47596015-47840123", "ensembl_id": "ENSG00000145244" } }, "GRch38": { "90": { "location": "4:47593998-47838106", "ensembl_id": "ENSG00000145244" } } }, "hgnc_date_symbol_changed": "2004-05-10" }, "entity_type": "gene", "entity_name": "CORIN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37913506", "15637153" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "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": null }, { "gene_data": { "alias": [ "GPI3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8957", "gene_name": "phosphatidylinositol glycan anchor biosynthesis class A", "omim_gene": [ "311770" ], "alias_name": [ "paroxysmal nocturnal hemoglobinuria", "phosphatidylinositol N-acetylglucosaminyltransferase" ], "gene_symbol": "PIGA", "hgnc_symbol": "PIGA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:15337573-15353676", "ensembl_id": "ENSG00000165195" } }, "GRch38": { "90": { "location": "X:15319451-15335580", "ensembl_id": "ENSG00000165195" } } }, "hgnc_date_symbol_changed": "1993-10-28" }, "entity_type": "gene", "entity_name": "PIGA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 116, "hash_id": null, "name": "Hydrops fetalis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.", "status": "public", "version": "0.328", "version_created": "2025-07-08T23:27:02.854141+10:00", "relevant_disorders": [ "Hydrops fetalis", "HP:0001789" ], "stats": { "number_of_genes": 169, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC23980", "DENNL72" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28337", "gene_name": "chromosome 9 open reading frame 72", "omim_gene": [ "614260" ], "alias_name": null, "gene_symbol": "C9orf72", "hgnc_symbol": "C9orf72", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:27546544-27573864", "ensembl_id": "ENSG00000147894" } }, "GRch38": { "90": { "location": "9:27546545-27573866", "ensembl_id": "ENSG00000147894" } } }, "hgnc_date_symbol_changed": "2004-01-06" }, "entity_type": "gene", "entity_name": "C9orf72", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Removed", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [ "STR" ], "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": [ "LIMK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6613", "gene_name": "LIM domain kinase 1", "omim_gene": [ "601329" ], "alias_name": null, "gene_symbol": "LIMK1", "hgnc_symbol": "LIMK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:73497263-73536855", "ensembl_id": "ENSG00000106683" } }, "GRch38": { "90": { "location": "7:74082933-74122525", "ensembl_id": "ENSG00000106683" } } }, "hgnc_date_symbol_changed": "1996-03-14" }, "entity_type": "gene", "entity_name": "LIMK1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40491492" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Endocrine system disorder, MONDO:0005151, LIMK1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "JAW1L", "IRAG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7237", "gene_name": "murine retrovirus integration site 1 homolog", "omim_gene": [ "604673" ], "alias_name": [ "inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate" ], "gene_symbol": "MRVI1", "hgnc_symbol": "MRVI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:10594638-10715535", "ensembl_id": "ENSG00000072952" } }, "GRch38": { "90": { "location": "11:10573091-10693988", "ensembl_id": "ENSG00000072952" } } }, "hgnc_date_symbol_changed": "1999-06-10" }, "entity_type": "gene", "entity_name": "MRVI1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30001348" ], "evidence": [ "Expert Review Red", "NHS GMS" ], "phenotypes": [ "Moyamoya disease MONDO:0016820" ], "mode_of_inheritance": "Unknown", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:21328", "gene_name": "neuraminidase 4", "omim_gene": [ "608527" ], "alias_name": null, "gene_symbol": "NEU4", "hgnc_symbol": "NEU4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:242749920-242758739", "ensembl_id": "ENSG00000204099" } }, "GRch38": { "90": { "location": "2:241808825-241817413", "ensembl_id": "ENSG00000204099" } } }, "hgnc_date_symbol_changed": "2003-09-16" }, "entity_type": "gene", "entity_name": "NEU4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41833579" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hearing loss disorder, MONDO:0005365, NEU4-related" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ARA70", "RFG", "ELE1", "PTC3", "DKFZp762E1112" ], "biotype": null, "hgnc_id": "HGNC:7671", "gene_name": "nuclear receptor coactivator 4", "omim_gene": [ "601984" ], "alias_name": [ "RET-activating gene ELE1" ], "gene_symbol": "NCOA4", "hgnc_symbol": "NCOA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:51565108-51590734", "ensembl_id": "ENSG00000138293" } }, "GRch38": { "90": { "location": "10:46005088-46030714", "ensembl_id": "ENSG00000266412" } } }, "hgnc_date_symbol_changed": "1999-12-17" }, "entity_type": "gene", "entity_name": "NCOA4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RAR2", "RLGP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25410", "gene_name": "RAB40A like", "omim_gene": [ "300405" ], "alias_name": [ "Ras like GTPase" ], "gene_symbol": "RAB40AL", "hgnc_symbol": "RAB40AL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:102192200-102193228", "ensembl_id": "ENSG00000102128" } }, "GRch38": { "90": { "location": "X:102937272-102938300", "ensembl_id": "ENSG00000102128" } } }, "hgnc_date_symbol_changed": "2005-04-11" }, "entity_type": "gene", "entity_name": "RAB40AL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25044830" ], "evidence": [ "Genetic Health Queensland", "Expert Review Red", "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "refuted" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cipp" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28881", "gene_name": "PATJ, crumbs cell polarity complex component", "omim_gene": [ "603199" ], "alias_name": [ "inactivation-no-afterpotential D-like", "Pals1-associated tight junction" ], "gene_symbol": "PATJ", "hgnc_symbol": "PATJ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:62208149-62629592", "ensembl_id": "ENSG00000132849" } }, "GRch38": { "90": { "location": "1:61742477-62178675", "ensembl_id": "ENSG00000132849" } } }, "hgnc_date_symbol_changed": "2016-02-22" }, "entity_type": "gene", "entity_name": "PATJ", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40931526" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Ciliopathy, MONDO:0005308, PATJ-related" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PAM", "KIAA0916", "FLJ10106" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23386", "gene_name": "MYC binding protein 2, E3 ubiquitin protein ligase", "omim_gene": [ "610392" ], "alias_name": null, "gene_symbol": "MYCBP2", "hgnc_symbol": "MYCBP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:77618792-77901185", "ensembl_id": "ENSG00000005810" } }, "GRch38": { "90": { "location": "13:77044655-77327050", "ensembl_id": "ENSG00000005810" } } }, "hgnc_date_symbol_changed": "2004-04-01" }, "entity_type": "gene", "entity_name": "MYCBP2", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "PMID: 36200388" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related", "corpus callosum abnormalities" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp434D0917" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18632", "gene_name": "kinesin family member 27", "omim_gene": [ "611253" ], "alias_name": null, "gene_symbol": "KIF27", "hgnc_symbol": "KIF27", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:86451613-86536342", "ensembl_id": "ENSG00000165115" } }, "GRch38": { "90": { "location": "9:83836698-83921465", "ensembl_id": "ENSG00000165115" } } }, "hgnc_date_symbol_changed": "2003-04-16" }, "entity_type": "gene", "entity_name": "KIF27", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ACS5", "ACS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16526", "gene_name": "acyl-CoA synthetase long chain family member 5", "omim_gene": [ "605677" ], "alias_name": [ "FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5" ], "gene_symbol": "ACSL5", "hgnc_symbol": "ACSL5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:114133776-114188138", "ensembl_id": "ENSG00000197142" } }, "GRch38": { "90": { "location": "10:112374018-112428380", "ensembl_id": "ENSG00000197142" } } }, "hgnc_date_symbol_changed": "2004-02-20" }, "entity_type": "gene", "entity_name": "ACSL5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33191500" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Diarrhoea 13, MIM# \t620357" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ODAG", "RG083M05.2", "FLJ22489" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29941", "gene_name": "GATA zinc finger domain containing 1", "omim_gene": [ "614518" ], "alias_name": [ "ocular development associated gene" ], "gene_symbol": "GATAD1", "hgnc_symbol": "GATAD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:92076767-92088150", "ensembl_id": "ENSG00000157259" } }, "GRch38": { "90": { "location": "7:92447453-92458836", "ensembl_id": "ENSG00000157259" } } }, "hgnc_date_symbol_changed": "2005-03-31" }, "entity_type": "gene", "entity_name": "GATAD1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21965549" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "?Cardiomyopathy, dilated, 2B MIM#614672" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FREAC7", "FKH6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3817", "gene_name": "forkhead box L1", "omim_gene": [ "603252" ], "alias_name": null, "gene_symbol": "FOXL1", "hgnc_symbol": "FOXL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:86609974-86615303", "ensembl_id": "ENSG00000176678" } }, "GRch38": { "90": { "location": "16:86576368-86582160", "ensembl_id": "ENSG00000176678" } } }, "hgnc_date_symbol_changed": "1995-06-05" }, "entity_type": "gene", "entity_name": "FOXL1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 34633540" ], "evidence": [ "Expert Review Red", "ClinGen", "Expert Review Red", "Literature" ], "phenotypes": [ "Otosclerosis 11 #MIM620576", "Congenital heart disease, MONDO:0005453" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ37478", "Hcml3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26742", "gene_name": "N-acetyltransferase 8 like", "omim_gene": [ "610647" ], "alias_name": [ "Shati" ], "gene_symbol": "NAT8L", "hgnc_symbol": "NAT8L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:2061239-2070816", "ensembl_id": "ENSG00000185818" } }, "GRch38": { "90": { "location": "4:2059512-2069089", "ensembl_id": "ENSG00000185818" } } }, "hgnc_date_symbol_changed": "2006-10-24" }, "entity_type": "gene", "entity_name": "NAT8L", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11310630", "19807691", "32275776" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "N-acetylaspartate deficiency - MIM#614063" ], "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": "1.4723", "version_created": "2026-04-06T18:01:52.429035+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NOP5", "HSPC120" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29926", "gene_name": "NOP58 ribonucleoprotein", "omim_gene": [ "616742" ], "alias_name": null, "gene_symbol": "NOP58", "hgnc_symbol": "NOP58", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:203130439-203168389", "ensembl_id": "ENSG00000055044" } }, "GRch38": { "90": { "location": "2:202265716-202303666", "ensembl_id": "ENSG00000055044" } } }, "hgnc_date_symbol_changed": "2009-01-13" }, "entity_type": "gene", "entity_name": "NOP58", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41383020" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, NOP58-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Map80", "KIAA0572", "GANP", "SAC3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6946", "gene_name": "minichromosome maintenance complex component 3 associated protein", "omim_gene": [ "603294" ], "alias_name": [ "germinal-centre associated nuclear protein" ], "gene_symbol": "MCM3AP", "hgnc_symbol": "MCM3AP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:47655047-47706211", "ensembl_id": "ENSG00000160294" } }, "GRch38": { "90": { "location": "21:46235126-46286297", "ensembl_id": "ENSG00000160294" } } }, "hgnc_date_symbol_changed": "1999-03-04" }, "entity_type": "gene", "entity_name": "MCM3AP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32202298" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM#618124)" ], "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": [ "FLJ37706", "RAD26L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26922", "gene_name": "ERCC excision repair 6 like 2", "omim_gene": [ "615667" ], "alias_name": null, "gene_symbol": "ERCC6L2", "hgnc_symbol": "ERCC6L2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:98637983-98776842", "ensembl_id": "ENSG00000182150" } }, "GRch38": { "90": { "location": "9:95875701-96014571", "ensembl_id": "ENSG00000182150" } } }, "hgnc_date_symbol_changed": "2012-03-30" }, "entity_type": "gene", "entity_name": "ERCC6L2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29987015", "24507776" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Bone marrow failure syndrome 2, MIM#615715" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 437, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20487", "SDH5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26034", "gene_name": "succinate dehydrogenase complex assembly factor 2", "omim_gene": [ "613019" ], "alias_name": null, "gene_symbol": "SDHAF2", "hgnc_symbol": "SDHAF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:61197514-61215001", "ensembl_id": "ENSG00000167985" } }, "GRch38": { "90": { "location": "11:61430042-61447529", "ensembl_id": "ENSG00000167985" } } }, "hgnc_date_symbol_changed": "2009-08-10" }, "entity_type": "gene", "entity_name": "SDHAF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Paragangliomas 2, MIM# 601650" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 437, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "E46L", "FLJ37990" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10549", "gene_name": "ataxin 10", "omim_gene": [ "611150" ], "alias_name": null, "gene_symbol": "ATXN10", "hgnc_symbol": "ATXN10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:46067678-46241187", "ensembl_id": "ENSG00000130638" } }, "GRch38": { "90": { "location": "22:45671798-45845307", "ensembl_id": "ENSG00000130638" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "gene", "entity_name": "ATXN10", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Removed", "Genetic Health Queensland", "Victorian Clinical Genetics Services" ], "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": [ "FLJ10996" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25611", "gene_name": "coiled-coil domain containing 93", "omim_gene": null, "alias_name": null, "gene_symbol": "CCDC93", "hgnc_symbol": "CCDC93", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:118673054-118771709", "ensembl_id": "ENSG00000125633" } }, "GRch38": { "90": { "location": "2:117915478-118014133", "ensembl_id": "ENSG00000125633" } } }, "hgnc_date_symbol_changed": "2006-03-24" }, "entity_type": "gene", "entity_name": "CCDC93", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40601774" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Ritscher-Schinzel syndrome, MONDO:0019078, CCDC93-related" ], "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": [ "VAMP-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12642", "gene_name": "vesicle associated membrane protein 1", "omim_gene": [ "185880" ], "alias_name": null, "gene_symbol": "VAMP1", "hgnc_symbol": "VAMP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6571403-6580153", "ensembl_id": "ENSG00000139190" } }, "GRch38": { "90": { "location": "12:6462237-6470987", "ensembl_id": "ENSG00000139190" } } }, "hgnc_date_symbol_changed": "1990-03-14" }, "entity_type": "gene", "entity_name": "VAMP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22958904" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic ataxia 1, autosomal dominant, MIM# 108600" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.610", "version_created": "2026-03-31T18:57:58.699788+11:00", "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": [ "HBLP1", "VRP", "AD3", "GRAMD8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17791", "gene_name": "TBC1 domain family member 8", "omim_gene": null, "alias_name": [ "BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein" ], "gene_symbol": "TBC1D8", "hgnc_symbol": "TBC1D8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:101624079-101869328", "ensembl_id": "ENSG00000204634" } }, "GRch38": { "90": { "location": "2:101007617-101252866", "ensembl_id": "ENSG00000204634" } } }, "hgnc_date_symbol_changed": "2003-05-19" }, "entity_type": "gene", "entity_name": "TBC1D8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35248088" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "non-syndromic hearing loss MONDO:0019587" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.359", "version_created": "2026-04-03T14:38:51.840380+11:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RPC39", "RPC6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15763", "gene_name": "RNA polymerase III subunit F", "omim_gene": [ "617455" ], "alias_name": [ "RNA polymerase III C39 subunit" ], "gene_symbol": "POLR3F", "hgnc_symbol": "POLR3F", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:18447771-18465287", "ensembl_id": "ENSG00000132664" } }, "GRch38": { "90": { "location": "20:18467127-18484643", "ensembl_id": "ENSG00000132664" } } }, "hgnc_date_symbol_changed": "2001-09-17" }, "entity_type": "gene", "entity_name": "POLR3F", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30211253" ], "evidence": [ "Expert list", "Expert Review Red", "Expert list" ], "phenotypes": [ "Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "1.35", "version_created": "2026-03-25T18:20:57.051027+11:00", "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": [] }, { "gene_data": { "alias": [ "ALK-5", "ACVRLK4", "ALK5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11772", "gene_name": "transforming growth factor beta receptor 1", "omim_gene": [ "190181" ], "alias_name": [ "activin A receptor type II-like kinase, 53kDa" ], "gene_symbol": "TGFBR1", "hgnc_symbol": "TGFBR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:101866320-101916474", "ensembl_id": "ENSG00000106799" } }, "GRch38": { "90": { "location": "9:99104038-99154192", "ensembl_id": "ENSG00000106799" } } }, "hgnc_date_symbol_changed": "1993-09-30" }, "entity_type": "gene", "entity_name": "TGFBR1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Loeys-Dietz syndrome 1", "OMIM #609192" ], "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": [ "FLJ10842" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21869", "gene_name": "acylglycerol kinase", "omim_gene": [ "610345" ], "alias_name": null, "gene_symbol": "AGK", "hgnc_symbol": "AGK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:141250989-141355044", "ensembl_id": "ENSG00000006530" } }, "GRch38": { "90": { "location": "7:141551189-141655244", "ensembl_id": "ENSG00000006530" } } }, "hgnc_date_symbol_changed": "2007-01-11" }, "entity_type": "gene", "entity_name": "AGK", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Sengers syndrome, MIM#212350" ], "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": [ "BIG-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2174", "gene_name": "contactin 4", "omim_gene": [ "607280" ], "alias_name": null, "gene_symbol": "CNTN4", "hgnc_symbol": "CNTN4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:2140497-3099645", "ensembl_id": "ENSG00000144619" } }, "GRch38": { "90": { "location": "3:2098813-3057956", "ensembl_id": "ENSG00000144619" } } }, "hgnc_date_symbol_changed": "2000-05-26" }, "entity_type": "gene", "entity_name": "CNTN4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15106122", "18349135", "17932120" ], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "complex neurodevelopmental disorder, MONDO:0100038" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "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": [ "CTX", "CP27" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2605", "gene_name": "cytochrome P450 family 27 subfamily A member 1", "omim_gene": [ "606530" ], "alias_name": [ "cerebrotendinous xanthomatosis" ], "gene_symbol": "CYP27A1", "hgnc_symbol": "CYP27A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:219646472-219680016", "ensembl_id": "ENSG00000135929" } }, "GRch38": { "90": { "location": "2:218781749-218815293", "ensembl_id": "ENSG00000135929" } } }, "hgnc_date_symbol_changed": "1991-08-22" }, "entity_type": "gene", "entity_name": "CYP27A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Cerebrotendinous xanthomatosis, MIM# 213700" ], "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": [ "FLJ44734", "IGF-II" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5466", "gene_name": "insulin like growth factor 2", "omim_gene": [ "147470" ], "alias_name": [ "somatomedin A", "preptin" ], "gene_symbol": "IGF2", "hgnc_symbol": "IGF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:2150342-2170833", "ensembl_id": "ENSG00000167244" } }, "GRch38": { "90": { "location": "11:2129112-2141238", "ensembl_id": "ENSG00000167244" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "IGF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31544945", "26154720" ], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Growth restriction, severe, with distinctive facies, MIM#616489" ], "mode_of_inheritance": "Unknown", "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": [ "DBA", "S19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10402", "gene_name": "ribosomal protein S19", "omim_gene": [ "603474" ], "alias_name": [ "Diamond-Blackfan anemia" ], "gene_symbol": "RPS19", "hgnc_symbol": "RPS19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:42363988-42376994", "ensembl_id": "ENSG00000105372" } }, "GRch38": { "90": { "location": "19:41859918-41872926", "ensembl_id": "ENSG00000105372" } } }, "hgnc_date_symbol_changed": "1998-07-22" }, "entity_type": "gene", "entity_name": "RPS19", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Diamond-Blackfan anemia 1, MIM#105650" ], "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": [ "MGC2793" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28423", "gene_name": "SH3 and cysteine rich domain 3", "omim_gene": [ "615521" ], "alias_name": null, "gene_symbol": "STAC3", "hgnc_symbol": "STAC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:57637236-57644976", "ensembl_id": "ENSG00000185482" } }, "GRch38": { "90": { "location": "12:57243453-57251193", "ensembl_id": "ENSG00000185482" } } }, "hgnc_date_symbol_changed": "2004-05-19" }, "entity_type": "gene", "entity_name": "STAC3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Myopathy, congenital, Baily-Bloch", "OMIM #255995" ], "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": [ "EXLM1", "CRSP150", "TRAP170", "RGR1", "CSRP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2370", "gene_name": "mediator complex subunit 14", "omim_gene": [ "300182" ], "alias_name": null, "gene_symbol": "MED14", "hgnc_symbol": "MED14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:40507558-40595110", "ensembl_id": "ENSG00000180182" } }, "GRch38": { "90": { "location": "X:40648306-40735858", "ensembl_id": "ENSG00000180182" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "MED14", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40597352" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO:0700092), MED14-related" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "UGT1A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12530", "gene_name": "UDP glucuronosyltransferase family 1 member A1", "omim_gene": [ "191740" ], "alias_name": null, "gene_symbol": "UGT1A1", "hgnc_symbol": "UGT1A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:234526291-234681956", "ensembl_id": "ENSG00000241635" } }, "GRch38": { "90": { "location": "2:233760248-233773299", "ensembl_id": "ENSG00000241635" } } }, "hgnc_date_symbol_changed": "1989-02-13" }, "entity_type": "gene", "entity_name": "UGT1A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Crigler-Najjar syndrome, type I, OMIM #218800", "Crigler-Najjar syndrome, type II, OMIM #606785" ], "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": [ "VATC", "Vma5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:856", "gene_name": "ATPase H+ transporting V1 subunit C1", "omim_gene": [ "603097" ], "alias_name": null, "gene_symbol": "ATP6V1C1", "hgnc_symbol": "ATP6V1C1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:104033291-104085279", "ensembl_id": "ENSG00000155097" } }, "GRch38": { "90": { "location": "8:103021063-103073051", "ensembl_id": "ENSG00000155097" } } }, "hgnc_date_symbol_changed": "2002-05-10" }, "entity_type": "gene", "entity_name": "ATP6V1C1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39210597" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "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": [ "DKFZp762H1311", "FLJ22445", "JBTS15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12370", "gene_name": "centrosomal protein 41", "omim_gene": [ "610523" ], "alias_name": null, "gene_symbol": "CEP41", "hgnc_symbol": "CEP41", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:130033612-130082274", "ensembl_id": "ENSG00000106477" } }, "GRch38": { "90": { "location": "7:130393771-130442433", "ensembl_id": "ENSG00000106477" } } }, "hgnc_date_symbol_changed": "2011-10-04" }, "entity_type": "gene", "entity_name": "CEP41", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "", "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": [ "ET" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8756", "gene_name": "phosphate cytidylyltransferase 2, ethanolamine", "omim_gene": [ "602679" ], "alias_name": [ "CTP:phosphoethanolamine cytidylyltransferase" ], "gene_symbol": "PCYT2", "hgnc_symbol": "PCYT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:79858841-79869340", "ensembl_id": "ENSG00000185813" } }, "GRch38": { "90": { "location": "17:81900965-81911464", "ensembl_id": "ENSG00000185813" } } }, "hgnc_date_symbol_changed": "1997-06-09" }, "entity_type": "gene", "entity_name": "PCYT2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31637422" ], "evidence": [ "Expert Review Green", "Expert Review Red", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "global developmental delay", "regression", "spastic parapesis or tetraparesis", "epilepsy", "progressive cerebral and cerebellar atrophy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.202", "version_created": "2026-04-02T15:02:17.166617+11:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0760", "OAZ", "Roaz", "Ebfaz", "Zfp104", "NPHP14", "JBTS19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16762", "gene_name": "zinc finger protein 423", "omim_gene": [ "604557" ], "alias_name": [ "OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein" ], "gene_symbol": "ZNF423", "hgnc_symbol": "ZNF423", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:49521435-49891830", "ensembl_id": "ENSG00000102935" } }, "GRch38": { "90": { "location": "16:49487524-49857919", "ensembl_id": "ENSG00000102935" } } }, "hgnc_date_symbol_changed": "2004-04-06" }, "entity_type": "gene", "entity_name": "ZNF423", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Expert Review Red", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nephronophthisis 14" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.202", "version_created": "2026-04-02T15:02:17.166617+11:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AT-1", "AT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:95", "gene_name": "solute carrier family 33 member 1", "omim_gene": [ "603690" ], "alias_name": null, "gene_symbol": "SLC33A1", "hgnc_symbol": "SLC33A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:155538813-155572218", "ensembl_id": "ENSG00000169359" } }, "GRch38": { "90": { "location": "3:155821024-155854429", "ensembl_id": "ENSG00000169359" } } }, "hgnc_date_symbol_changed": "2002-12-06" }, "entity_type": "gene", "entity_name": "SLC33A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19061983", "20461110" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Spastic paraplegia 42, autosomal dominant, MIM#\t612539" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PC4", "TIS7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5456", "gene_name": "interferon related developmental regulator 1", "omim_gene": [ "603502" ], "alias_name": null, "gene_symbol": "IFRD1", "hgnc_symbol": "IFRD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:112063023-112121072", "ensembl_id": "ENSG00000006652" } }, "GRch38": { "90": { "location": "7:112422968-112481017", "ensembl_id": "ENSG00000006652" } } }, "hgnc_date_symbol_changed": "1998-01-21" }, "entity_type": "gene", "entity_name": "IFRD1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29362493" ], "evidence": [ "Expert Review Red", "Royal Melbourne Hospital" ], "phenotypes": [ "Hereditary spastic paraplegia MONDO:0019064, IFRD1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "refuted" ], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10826", "gene_name": "SH3 domain binding protein 4", "omim_gene": [ "605611" ], "alias_name": null, "gene_symbol": "SH3BP4", "hgnc_symbol": "SH3BP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:235860617-235964358", "ensembl_id": "ENSG00000130147" } }, "GRch38": { "90": { "location": "2:234951973-235055714", "ensembl_id": "ENSG00000130147" } } }, "hgnc_date_symbol_changed": "1999-08-26" }, "entity_type": "gene", "entity_name": "SH3BP4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24627108" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Red", "Royal Melbourne Hospital" ], "phenotypes": [ "HMSN" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "B3GN-T4", "beta3Gn-T4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15683", "gene_name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4", "omim_gene": [ "605864" ], "alias_name": null, "gene_symbol": "B3GNT4", "hgnc_symbol": "B3GNT4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:122688090-122693499", "ensembl_id": "ENSG00000176383" } }, "GRch38": { "90": { "location": "12:122203543-122208952", "ensembl_id": "ENSG00000176383" } } }, "hgnc_date_symbol_changed": "2001-05-14" }, "entity_type": "gene", "entity_name": "B3GNT4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41444428" ], "evidence": [ "Literature", "Literature" ], "phenotypes": [ "Hereditary neurological disease, MONDO:0100545, B3GNT4-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3344", "gene_name": "enamelin", "omim_gene": [ "606585" ], "alias_name": null, "gene_symbol": "ENAM", "hgnc_symbol": "ENAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:71494461-71552533", "ensembl_id": "ENSG00000132464" } }, "GRch38": { "90": { "location": "4:70628744-70686816", "ensembl_id": "ENSG00000132464" } } }, "hgnc_date_symbol_changed": "1999-05-17" }, "entity_type": "gene", "entity_name": "ENAM", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Amelogenesis imperfecta, type IB, MIM#\t104500", "Amelogenesis imperfecta, type IC, MIM#\t204650" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3089, "hash_id": null, "name": "Ectodermal Dysplasia", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.", "status": "public", "version": "0.110", "version_created": "2026-03-31T16:43:36.155380+11:00", "relevant_disorders": [ "Ectodermal dysplasia", "HP:0000968" ], "stats": { "number_of_genes": 61, "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": [ "ADHAPS", "ADAS", "ALDHPSY", "ADPS", "ADAP-S" ], "biotype": "protein_coding", "hgnc_id": "HGNC:327", "gene_name": "alkylglycerone phosphate synthase", "omim_gene": [ "603051" ], "alias_name": null, "gene_symbol": "AGPS", "hgnc_symbol": "AGPS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:178257372-178408564", "ensembl_id": "ENSG00000018510" } }, "GRch38": { "90": { "location": "2:177392644-177559299", "ensembl_id": "ENSG00000018510" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "AGPS", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red" ], "phenotypes": [ "Lipodystrophy, congenital generalized, type 1, 608594" ], "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": [ "LEAP-1", "HEPC", "HFE2B", "LEAP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15598", "gene_name": "hepcidin antimicrobial peptide", "omim_gene": [ "606464" ], "alias_name": null, "gene_symbol": "HAMP", "hgnc_symbol": "HAMP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:35771619-35776046", "ensembl_id": "ENSG00000105697" } }, "GRch38": { "90": { "location": "19:35280716-35285143", "ensembl_id": "ENSG00000105697" } } }, "hgnc_date_symbol_changed": "2001-05-29" }, "entity_type": "gene", "entity_name": "HAMP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33861982", "12469120", "34828384", "15198949", "33016646" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Hemochromatosis, type 2B 613313" ], "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": [ "SPAX5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:315", "gene_name": "AFG3 like matrix AAA peptidase subunit 2", "omim_gene": [ "604581" ], "alias_name": null, "gene_symbol": "AFG3L2", "hgnc_symbol": "AFG3L2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:12328943-12377313", "ensembl_id": "ENSG00000141385" } }, "GRch38": { "90": { "location": "18:12328944-12377314", "ensembl_id": "ENSG00000141385" } } }, "hgnc_date_symbol_changed": "1999-07-13" }, "entity_type": "gene", "entity_name": "AFG3L2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29181157", "26539208", "30252181", "30389403", "32219868", "32600459", "32548275" ], "evidence": [ "Expert Review Red", "Expert list", "RetNet", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic ataxia 5, autosomal recessive (MIM#614487)", "Spinocerebellar ataxia 28 (MIM#610246)", "Optic atrophy 12, MIM# 618977" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3099, "hash_id": null, "name": "Syndromic Retinopathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.", "status": "public", "version": "0.256", "version_created": "2026-03-31T19:05:29.271183+11:00", "relevant_disorders": [ "Retinopathy", "HP:0000488" ], "stats": { "number_of_genes": 138, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CPAP", "BM032", "LAP", "LIP1", "Sas-4", "SASS4", "SCKL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17272", "gene_name": "centromere protein J", "omim_gene": [ "609279" ], "alias_name": [ "centrosomal P4.1-associated protein" ], "gene_symbol": "CENPJ", "hgnc_symbol": "CENPJ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:25457171-25497018", "ensembl_id": "ENSG00000151849" } }, "GRch38": { "90": { "location": "13:24882284-24922889", "ensembl_id": "ENSG00000151849" } } }, "hgnc_date_symbol_changed": "2002-02-15" }, "entity_type": "gene", "entity_name": "CENPJ", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Seckel syndrome 4 613676" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3144, "hash_id": null, "name": "Cerebral vascular malformations", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.", "status": "public", "version": "1.12", "version_created": "2026-01-22T10:52:30.127872+11:00", "relevant_disorders": [ "Abnormal cerebral vascular morphology HP:0100659" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0912", "SCKL5", "MCPH9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29298", "gene_name": "centrosomal protein 152", "omim_gene": [ "613529" ], "alias_name": [ "asterless" ], "gene_symbol": "CEP152", "hgnc_symbol": "CEP152", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:49005125-49103343", "ensembl_id": "ENSG00000103995" } }, "GRch38": { "90": { "location": "15:48712928-48811146", "ensembl_id": "ENSG00000103995" } } }, "hgnc_date_symbol_changed": "2005-12-01" }, "entity_type": "gene", "entity_name": "CEP152", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21131973" ], "evidence": [ "Expert Review Red", "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Seckel syndrome 5 613823" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3144, "hash_id": null, "name": "Cerebral vascular malformations", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.", "status": "public", "version": "1.12", "version_created": "2026-01-22T10:52:30.127872+11:00", "relevant_disorders": [ "Abnormal cerebral vascular morphology HP:0100659" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TEM8", "FLJ21776", "FLJ10601", "ATR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21014", "gene_name": "anthrax toxin receptor 1", "omim_gene": [ "606410" ], "alias_name": [ "anthrax toxin receptor", "tumor endothelial marker 8 precursor" ], "gene_symbol": "ANTXR1", "hgnc_symbol": "ANTXR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:69240310-69476459", "ensembl_id": "ENSG00000169604" } }, "GRch38": { "90": { "location": "2:69013178-69249327", "ensembl_id": "ENSG00000169604" } } }, "hgnc_date_symbol_changed": "2003-08-27" }, "entity_type": "gene", "entity_name": "ANTXR1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34794894", "27426988", "16272061", "2248288", "17262136" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "GAPO syndrome MIM#230740" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.410", "version_created": "2026-04-06T10:52:55.877866+10:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 164, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "UFO", "JTK11", "Tyro7", "ARK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:905", "gene_name": "AXL receptor tyrosine kinase", "omim_gene": [ "109135" ], "alias_name": null, "gene_symbol": "AXL", "hgnc_symbol": "AXL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:41725108-41767671", "ensembl_id": "ENSG00000167601" } }, "GRch38": { "90": { "location": "19:41219203-41261766", "ensembl_id": "ENSG00000167601" } } }, "hgnc_date_symbol_changed": "1992-09-15" }, "entity_type": "gene", "entity_name": "AXL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18787040", "24476074" ], "evidence": [ "Expert Review Red", "Royal Melbourne Hospital" ], "phenotypes": [ "Kallman syndrome", "normosmic idiopathic hypogonadotropic hypogonadism" ], "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": [ "KIAA1577" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29316", "gene_name": "zinc finger SWIM-type containing 6", "omim_gene": [ "615951" ], "alias_name": null, "gene_symbol": "ZSWIM6", "hgnc_symbol": "ZSWIM6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:60628100-60841997", "ensembl_id": "ENSG00000130449" } }, "GRch38": { "90": { "location": "5:61332273-61546170", "ensembl_id": "ENSG00000130449" } } }, "hgnc_date_symbol_changed": "2003-12-17" }, "entity_type": "gene", "entity_name": "ZSWIM6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Expert Review", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)", "Acromelic frontonasal dysostosis (603671)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TTF-1", "TTF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11825", "gene_name": "NK2 homeobox 1", "omim_gene": [ "600635" ], "alias_name": null, "gene_symbol": "NKX2-1", "hgnc_symbol": "NKX2-1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:36985602-36990354", "ensembl_id": "ENSG00000136352" } }, "GRch38": { "90": { "location": "14:36516392-36521149", "ensembl_id": "ENSG00000136352" } } }, "hgnc_date_symbol_changed": "2007-07-26" }, "entity_type": "gene", "entity_name": "NKX2-1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10931427", "27066577", "26839702", "26103969", "33270637", "30186310" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Royal Melbourne Hospital" ], "phenotypes": [ "NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TNNC1", "CMH7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11947", "gene_name": "troponin I3, cardiac type", "omim_gene": [ "191044" ], "alias_name": null, "gene_symbol": "TNNI3", "hgnc_symbol": "TNNI3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:55663137-55669141", "ensembl_id": "ENSG00000129991" } }, "GRch38": { "90": { "location": "19:55151767-55157773", "ensembl_id": "ENSG00000129991" } } }, "hgnc_date_symbol_changed": "1989-12-11" }, "entity_type": "gene", "entity_name": "TNNI3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "NSW Health Pathology" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3437, "hash_id": null, "name": "Incidentalome_PREGEN_DRAFT", "disease_group": "", "disease_sub_group": "", "description": "Imported to facilitate update work. Do not use while labeled as DRAFT", "status": "public", "version": "0.43", "version_created": "2021-01-20T16:42:09.286633+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 173, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:24475", "gene_name": "dimethylglycine dehydrogenase", "omim_gene": [ "605849" ], "alias_name": null, "gene_symbol": "DMGDH", "hgnc_symbol": "DMGDH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:78293438-78531861", "ensembl_id": "ENSG00000132837" } }, "GRch38": { "90": { "location": "5:78997606-79236038", "ensembl_id": "ENSG00000132837" } } }, "hgnc_date_symbol_changed": "2004-05-12" }, "entity_type": "gene", "entity_name": "DMGDH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11231903", "18937046", "28881522", "27604308" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Dimethylglycine dehydrogenase deficiency MIM#605850" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6715", "gene_name": "latent transforming growth factor beta binding protein 2", "omim_gene": [ "602091" ], "alias_name": null, "gene_symbol": "LTBP2", "hgnc_symbol": "LTBP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:74964873-75079306", "ensembl_id": "ENSG00000119681" } }, "GRch38": { "90": { "location": "14:74498170-74612378", "ensembl_id": "ENSG00000119681" } } }, "hgnc_date_symbol_changed": "1995-05-11" }, "entity_type": "gene", "entity_name": "LTBP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22539340" ], "evidence": [ "Expert Review Red", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Weill-Marchesani" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3729, "hash_id": null, "name": "Hand and foot malformations", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.", "status": "public", "version": "0.85", "version_created": "2026-03-26T15:53:21.747538+11:00", "relevant_disorders": [ "Abnormal hand morphology", "HP:0005922; Abnormal foot morphology", "HP:0001760" ], "stats": { "number_of_genes": 101, "number_of_strs": 1, "number_of_regions": 4 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UQCR4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2579", "gene_name": "cytochrome c1", "omim_gene": [ "123980" ], "alias_name": null, "gene_symbol": "CYC1", "hgnc_symbol": "CYC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145149930-145152428", "ensembl_id": "ENSG00000179091" } }, "GRch38": { "90": { "location": "8:144095027-144097525", "ensembl_id": "ENSG00000179091" } } }, "hgnc_date_symbol_changed": "1988-07-06" }, "entity_type": "gene", "entity_name": "CYC1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23910460" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10157" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25484", "gene_name": "kinesin family member 26B", "omim_gene": [ "614026" ], "alias_name": null, "gene_symbol": "KIF26B", "hgnc_symbol": "KIF26B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:245318287-245872733", "ensembl_id": "ENSG00000162849" } }, "GRch38": { "90": { "location": "1:245154985-245709431", "ensembl_id": "ENSG00000162849" } } }, "hgnc_date_symbol_changed": "2006-07-04" }, "entity_type": "gene", "entity_name": "KIF26B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30151950" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Multiple congenital anomalies MONDO:0019042, KIF26B-related" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KPL2", "FLJ23577", "CT122" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26293", "gene_name": "sperm flagellar 2", "omim_gene": [ "610172" ], "alias_name": [ "cancer/testis antigen 122" ], "gene_symbol": "SPEF2", "hgnc_symbol": "SPEF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:35617946-35814713", "ensembl_id": "ENSG00000152582" } }, "GRch38": { "90": { "location": "5:35617844-35814611", "ensembl_id": "ENSG00000152582" } } }, "hgnc_date_symbol_changed": "2007-08-20" }, "entity_type": "gene", "entity_name": "SPEF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31151990", "31278745", "31048344", "31942643" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Spermatogenic failure 43, MIM#618751", "Primary ciliary dyskinesia-like phenotype" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NBC1", "HNBC1", "NBC2", "pNBC", "hhNMC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11030", "gene_name": "solute carrier family 4 member 4", "omim_gene": [ "603345" ], "alias_name": null, "gene_symbol": "SLC4A4", "hgnc_symbol": "SLC4A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:72053003-72437804", "ensembl_id": "ENSG00000080493" } }, "GRch38": { "90": { "location": "4:71186757-71572087", "ensembl_id": "ENSG00000080493" } } }, "hgnc_date_symbol_changed": "1998-12-11" }, "entity_type": "gene", "entity_name": "SLC4A4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16636648", "10545938", "11131345" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278)" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LYRM8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:33867", "gene_name": "succinate dehydrogenase complex assembly factor 1", "omim_gene": [ "612848" ], "alias_name": [ "LYR motif containing 8" ], "gene_symbol": "SDHAF1", "hgnc_symbol": "SDHAF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36486090-36487220", "ensembl_id": "ENSG00000205138" } }, "GRch38": { "90": { "location": "19:35995199-35996315", "ensembl_id": "ENSG00000205138" } } }, "hgnc_date_symbol_changed": "2009-05-27" }, "entity_type": "gene", "entity_name": "SDHAF1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19465911", "26749241", "22995659" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TRKB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8032", "gene_name": "neurotrophic receptor tyrosine kinase 2", "omim_gene": [ "600456" ], "alias_name": null, "gene_symbol": "NTRK2", "hgnc_symbol": "NTRK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:87283466-87638505", "ensembl_id": "ENSG00000148053" } }, "GRch38": { "90": { "location": "9:84668551-85027070", "ensembl_id": "ENSG00000148053" } } }, "hgnc_date_symbol_changed": "1991-07-18" }, "entity_type": "gene", "entity_name": "NTRK2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15494731", "27884935", "29100083" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Obesity, hyperphagia, and developmental delay, MIM# 613886", "Developmental and epileptic encephalopathy 58, MIM# 617830" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6831", "gene_name": "mannosidase beta", "omim_gene": [ "609489" ], "alias_name": [ "beta-mannosidase A" ], "gene_symbol": "MANBA", "hgnc_symbol": "MANBA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:103552660-103682151", "ensembl_id": "ENSG00000109323" } }, "GRch38": { "90": { "location": "4:102631488-102760994", "ensembl_id": "ENSG00000109323" } } }, "hgnc_date_symbol_changed": "1990-05-25" }, "entity_type": "gene", "entity_name": "MANBA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Mannosidosis, beta, MIM# 248510", "MONDO:0009562" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32731", "HGNAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26527", "gene_name": "heparan-alpha-glucosaminide N-acetyltransferase", "omim_gene": [ "610453" ], "alias_name": null, "gene_symbol": "HGSNAT", "hgnc_symbol": "HGSNAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:42995556-43057998", "ensembl_id": "ENSG00000165102" } }, "GRch38": { "90": { "location": "8:43140455-43202855", "ensembl_id": "ENSG00000165102" } } }, "hgnc_date_symbol_changed": "2006-08-16" }, "entity_type": "gene", "entity_name": "HGSNAT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19479962", "31228227", "20825431", "20583299" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930", "MONDO:0009657" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ30570", "rd6", "NNO2", "C1QTNF5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18121", "gene_name": "membrane frizzled-related protein", "omim_gene": [ "606227" ], "alias_name": [ "membrane-type frizzled-related protein", "C1q and TNF related 5" ], "gene_symbol": "MFRP", "hgnc_symbol": "MFRP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:119209652-119217383", "ensembl_id": "ENSG00000235718" } }, "GRch38": { "90": { "location": "11:119338942-119346673", "ensembl_id": "ENSG00000235718" } } }, "hgnc_date_symbol_changed": "2002-02-25" }, "entity_type": "gene", "entity_name": "MFRP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17167404", "18554571", "20361016" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microphthalmia, isolated 5, MIM# 611040" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EPD", "PDE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:877", "gene_name": "aldehyde dehydrogenase 7 family member A1", "omim_gene": [ "107323" ], "alias_name": [ "antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase" ], "gene_symbol": "ALDH7A1", "hgnc_symbol": "ALDH7A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:125877533-125931110", "ensembl_id": "ENSG00000164904" } }, "GRch38": { "90": { "location": "5:126531200-126595418", "ensembl_id": "ENSG00000164904" } } }, "hgnc_date_symbol_changed": "1995-12-11" }, "entity_type": "gene", "entity_name": "ALDH7A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Epilepsy, pyridoxine-dependent, MIM# 266100" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PPARG1", "PPARG2", "NR1C3", "PPARgamma" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9236", "gene_name": "peroxisome proliferator activated receptor gamma", "omim_gene": [ "601487" ], "alias_name": null, "gene_symbol": "PPARG", "hgnc_symbol": "PPARG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:12328867-12475855", "ensembl_id": "ENSG00000132170" } }, "GRch38": { "90": { "location": "3:12287368-12434356", "ensembl_id": "ENSG00000132170" } } }, "hgnc_date_symbol_changed": "1996-03-12" }, "entity_type": "gene", "entity_name": "PPARG", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9425261", "9753710" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Obesity, severe, MIM#601665" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3764, "hash_id": null, "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.", "status": "public", "version": "1.30", "version_created": "2026-03-18T15:16:42.995334+11:00", "relevant_disorders": [ "Obesity", "HP:0001513" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dGK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2858", "gene_name": "deoxyguanosine kinase", "omim_gene": [ "601465" ], "alias_name": null, "gene_symbol": "DGUOK", "hgnc_symbol": "DGUOK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74153953-74186088", "ensembl_id": "ENSG00000114956" } }, "GRch38": { "90": { "location": "2:73926826-73958961", "ensembl_id": "ENSG00000114956" } } }, "hgnc_date_symbol_changed": "1996-07-17" }, "entity_type": "gene", "entity_name": "DGUOK", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HNL3", "KIAA1480", "ASPGX1", "AUTSX1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14289", "gene_name": "neuroligin 3", "omim_gene": [ "300336" ], "alias_name": null, "gene_symbol": "NLGN3", "hgnc_symbol": "NLGN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:70364681-70391051", "ensembl_id": "ENSG00000196338" } }, "GRch38": { "90": { "location": "X:71144831-71171201", "ensembl_id": "ENSG00000196338" } } }, "hgnc_date_symbol_changed": "2001-01-02" }, "entity_type": "gene", "entity_name": "NLGN3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Autism" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p53R2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17296", "gene_name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B", "omim_gene": [ "604712" ], "alias_name": null, "gene_symbol": "RRM2B", "hgnc_symbol": "RRM2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:103216730-103251346", "ensembl_id": "ENSG00000048392" } }, "GRch38": { "90": { "location": "8:102204502-102239118", "ensembl_id": "ENSG00000048392" } } }, "hgnc_date_symbol_changed": "2002-01-14" }, "entity_type": "gene", "entity_name": "RRM2B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075", "Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075", "Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:15672", "gene_name": "ALG9, alpha-1,2-mannosyltransferase", "omim_gene": [ "606941" ], "alias_name": [ "dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase" ], "gene_symbol": "ALG9", "hgnc_symbol": "ALG9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:111652919-111742305", "ensembl_id": "ENSG00000086848" } }, "GRch38": { "90": { "location": "11:111782195-111871581", "ensembl_id": "ENSG00000086848" } } }, "hgnc_date_symbol_changed": "2004-08-26" }, "entity_type": "gene", "entity_name": "ALG9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26453364", "25966638", "28932688" ], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210", "Congenital disorder of glycosylation, type Il, MIM#608776" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EIEE2", "CFAP247" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11411", "gene_name": "cyclin dependent kinase like 5", "omim_gene": [ "300203" ], "alias_name": null, "gene_symbol": "CDKL5", "hgnc_symbol": "CDKL5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:18443703-18671749", "ensembl_id": "ENSG00000008086" } }, "GRch38": { "90": { "location": "X:18425583-18653629", "ensembl_id": "ENSG00000008086" } } }, "hgnc_date_symbol_changed": "2002-11-29" }, "entity_type": "gene", "entity_name": "CDKL5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 2, MIM 300672" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1352", "gene_name": "complement C8 alpha chain", "omim_gene": [ "120950" ], "alias_name": null, "gene_symbol": "C8A", "hgnc_symbol": "C8A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:57320479-57383894", "ensembl_id": "ENSG00000157131" } }, "GRch38": { "90": { "location": "1:56854806-56918221", "ensembl_id": "ENSG00000157131" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C8A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BeginNGS" ], "phenotypes": [ "C8 deficiency, type I, MIM#\t613790" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCDO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2909", "gene_name": "delta like canonical Notch ligand 3", "omim_gene": [ "602768" ], "alias_name": null, "gene_symbol": "DLL3", "hgnc_symbol": "DLL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:39989535-39999121", "ensembl_id": "ENSG00000090932" } }, "GRch38": { "90": { "location": "19:39498895-39508481", "ensembl_id": "ENSG00000090932" } } }, "hgnc_date_symbol_changed": "2000-03-15" }, "entity_type": "gene", "entity_name": "DLL3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20487", "SDH5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26034", "gene_name": "succinate dehydrogenase complex assembly factor 2", "omim_gene": [ "613019" ], "alias_name": null, "gene_symbol": "SDHAF2", "hgnc_symbol": "SDHAF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:61197514-61215001", "ensembl_id": "ENSG00000167985" } }, "GRch38": { "90": { "location": "11:61430042-61447529", "ensembl_id": "ENSG00000167985" } } }, "hgnc_date_symbol_changed": "2009-08-10" }, "entity_type": "gene", "entity_name": "SDHAF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert Review", "Expert list" ], "phenotypes": [ "Renal carcinoma, MONDO:0005206", "Hereditary pheochromocytoma-paraganglioma, MONDO:0017366", "Pheochromocytoma/paraganglioma syndrome 2, MIM#601650" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4367, "hash_id": null, "name": "Kidney Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with kidney cancer. \r\n\r\nFurther information on the testing criteria for kidney cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3889-renal-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with kidney cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.12", "version_created": "2026-02-21T14:02:42.792697+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8582", "gene_name": "phenylalanine hydroxylase", "omim_gene": [ "612349" ], "alias_name": [ "phenylalanine 4-monooxygenase" ], "gene_symbol": "PAH", "hgnc_symbol": "PAH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:103230663-103352188", "ensembl_id": "ENSG00000171759" } }, "GRch38": { "90": { "location": "12:102836885-102958410", "ensembl_id": "ENSG00000171759" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PAH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39630157", "40378670" ], "evidence": [ "Expert list" ], "phenotypes": [ "Phenylketonuria MIM#261600" ], "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:20127", "gene_name": "tubulin epsilon and delta complex 1", "omim_gene": null, "alias_name": null, "gene_symbol": "C14orf80", "hgnc_symbol": "TEDC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:105956192-105965912", "ensembl_id": "ENSG00000185347" } }, "GRch38": { "90": { "location": "14:105489855-105499575", "ensembl_id": "ENSG00000185347" } } }, "hgnc_date_symbol_changed": "2017-07-13" }, "entity_type": "gene", "entity_name": "C14orf80", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39979680", "38252227", "30842647" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Syndromic disease, MONDO:0002254" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4523, "hash_id": null, "name": "Adrenal insufficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.", "status": "public", "version": "0.76", "version_created": "2026-03-19T16:21:18.336273+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "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": null, "entity_type": "region", "entity_name": "ISCA-37430-Loss", "verbose_name": "Miller-Dieker syndrome, chromosome 17p13.3 deletion syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "Miller-Dieker lissencephaly syndrome, MIM#\t247200" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 1344539, 2685615 ], "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37446-Loss", "verbose_name": "Chromosome 22q11.2 deletion syndrome, distal", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "18179902", "23765049", "21671380" ], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 22q11.2 deletion syndrome, distal MIM#611867", "intellectual disability", "autism", "multiple congenital anomalies" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 18924718, 21111384 ], "tags": [ "SV/CNV" ], "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37432-Loss", "verbose_name": "Chromosome 17q12 deletion syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "PMID: 19844256" ], "evidence": [ "Expert list", "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 17q12 deletion syndrome\tMIM#614527", "Renal cysts and diabetes (RCAD) syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 36458167, 37854617 ], "tags": [], "panel": { "id": 78, "hash_id": null, "name": "Cholestasis", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.10", "version_created": "2026-03-26T17:26:27.105917+11:00", "relevant_disorders": [ "Cholestasis HP:0001396" ], "stats": { "number_of_genes": 99, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] } }, { "gene_data": { "alias": [ "DAX1", "AHCH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7960", "gene_name": "nuclear receptor subfamily 0 group B member 1", "omim_gene": [ "300473" ], "alias_name": null, "gene_symbol": "NR0B1", "hgnc_symbol": "NR0B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:30322323-30327715", "ensembl_id": "ENSG00000169297" } }, "GRch38": { "90": { "location": "X:30304206-30309598", "ensembl_id": "ENSG00000169297" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "region", "entity_name": "ISCA-46302-Gain", "verbose_name": "Xp21.2 duplication syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "0", "triplosensitivity_score": "3", "required_overlap_percentage": 80, "type_of_variants": "cnv_gain", "publications": [], "evidence": [ "Expert Review Green", "ClinGen", "ClinGen" ], "phenotypes": [ "46,XY sex reversal 2, MONDO:0010226" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "chromosome": "X", "grch37_coordinates": null, "grch38_coordinates": [ 30176883, 30336883 ], "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.47", "version_created": "2026-04-06T10:50:25.990411+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37390-Loss", "verbose_name": "Cri-du-chat syndrome, 5p15 terminal deletion syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "small", "publications": [ "16953888" ], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review" ], "phenotypes": [ "Cri-du-chat syndrome MIM#123450", "intellectual disability", "microcephaly" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "5", "grch37_coordinates": null, "grch38_coordinates": [ 37695, 11347150 ], "tags": [ "SV/CNV" ], "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37393-Gain", "verbose_name": "Cat eye syndrome, 22q11.21 tetrasomy syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": null, "triplosensitivity_score": "3", "required_overlap_percentage": 80, "type_of_variants": "cnv_gain", "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review" ], "phenotypes": [ "Cat eye syndrome, MIM#\t115470", "coloboma", "anal atresia", "heart and renal malformations" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 16912063, 18109094 ], "tags": [ "SV/CNV" ], "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37446-Loss", "verbose_name": "Chromosome 22q11.2 deletion syndrome, distal", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "18179902", "23765049", "21671380" ], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 22q11.2 deletion syndrome, distal MIM#611867", "intellectual disability", "autism", "multiple congenital anomalies" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 18924718, 21111384 ], "tags": [ "SV/CNV" ], "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "FOXF1 upstream regulatory region", "verbose_name": "FOXF1 upstream regulatory region", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": null, "triplosensitivity_score": null, "required_overlap_percentage": 70, "type_of_variants": "cnv_loss", "publications": [ "PMID: 27822317, 27071622, 23034409, 24842713" ], "evidence": [ "Literature", "Literature" ], "phenotypes": [ "Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "16", "grch37_coordinates": null, "grch38_coordinates": [ 86212067, 86287054 ], "tags": [], "panel": { "id": 3095, "hash_id": null, "name": "Pulmonary Arterial Hypertension", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.", "status": "public", "version": "1.56", "version_created": "2026-03-28T14:21:49.158422+11:00", "relevant_disorders": [ "Pulmonary arterial hypertension", "HP:0002092" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37500-Loss", "verbose_name": "Chromosome 15q25 deletion syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "20921022", "24352913" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 15q25 deletion syndrome\tMIM#614294", "intellectual disability", "congenital abnormalities", "haematological abnormalities" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 82534141, 84045981 ], "tags": [], "panel": { "id": 3443, "hash_id": null, "name": "Common deletion and duplication syndromes", "disease_group": "", "disease_sub_group": "", "description": "Under construction", "status": "public", "version": "0.156", "version_created": "2026-02-06T14:14:01.107904+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 0, "number_of_regions": 71 }, "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37424-Loss", "verbose_name": "10q22.3q23.2 deletion syndrome (LCR-3/4-flanked)", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "20345475", "25846706" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked)", "intellectual disability", "autism", "macrocephaly" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "10", "grch37_coordinates": null, "grch38_coordinates": [ 79923892, 86983483 ], "tags": [ "SV/CNV" ], "panel": { "id": 3443, "hash_id": null, "name": "Common deletion and duplication syndromes", "disease_group": "", "disease_sub_group": "", "description": "Under construction", "status": "public", "version": "0.156", "version_created": "2026-02-06T14:14:01.107904+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 0, "number_of_regions": 71 }, "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37431-Loss", "verbose_name": "Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "12660952", "14729829" ], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 17q11.2 deletion syndrome, MIM#613675", "NF1 deletion syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 30835804, 31891648 ], "tags": [], "panel": { "id": 4365, "hash_id": null, "name": "Paraganglioma_phaeochromocytoma", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with paraganglioma and phaeochromocytoma. \r\n\r\nFurther information on the testing criteria for paraganglioma and phaeochromocytoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3601-paraganglioma-phaeochromocytoma-panel-testi\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with paraganglioma and phaeochromocytoma and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.2", "version_created": "2026-01-12T09:39:17.151164+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 18, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] } } ] }