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GET /api/v1/entities/?format=api&page=92
{ "count": 36038, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=93", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=91", "results": [ { "gene_data": { "alias": [ "XKR1", "Kx", "X1k" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12811", "gene_name": "X-linked Kx blood group", "omim_gene": [ "314850" ], "alias_name": [ "Kx antigen", "McLeod syndrome" ], "gene_symbol": "XK", "hgnc_symbol": "XK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:37545012-37591383", "ensembl_id": "ENSG00000047597" } }, "GRch38": { "90": { "location": "X:37685759-37732130", "ensembl_id": "ENSG00000047597" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "XK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12899725" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "McLeod syndrome with or without chronic granulomatous disease (MIM#300842)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": 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": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33776626" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Acromelic frontonasal dysostosis - MIM#603671" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.246", "version_created": "2026-03-02T10:22:48.751874+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "XT-I", "PXYLT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15516", "gene_name": "xylosyltransferase 1", "omim_gene": [ "608124" ], "alias_name": [ "protein xylosyltransferase 1" ], "gene_symbol": "XYLT1", "hgnc_symbol": "XYLT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:17195626-17564738", "ensembl_id": "ENSG00000103489" } }, "GRch38": { "90": { "location": "16:17101769-17470881", "ensembl_id": "ENSG00000103489" } } }, "hgnc_date_symbol_changed": "2001-04-06" }, "entity_type": "gene", "entity_name": "XYLT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35081921", "30554721", "24581741", "23982343" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Desbuquois dysplasia 2, MIM# 615777", "Baratela-Scott syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.246", "version_created": "2026-03-02T10:22:48.751874+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BMD", "DXS142", "DXS164", "DXS206", "DXS230", "DXS239", "DXS268", "DXS269", "DXS270", "DXS272" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2928", "gene_name": "dystrophin", "omim_gene": [ "300377" ], "alias_name": [ "muscular dystrophy, Duchenne and Becker types" ], "gene_symbol": "DMD", "hgnc_symbol": "DMD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:31115794-33357558", "ensembl_id": "ENSG00000198947" } }, "GRch38": { "90": { "location": "X:31097677-33339441", "ensembl_id": "ENSG00000198947" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "DMD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.248", "version_created": "2026-03-19T12:51:18.584438+11:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CPETRL1", "BEC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2047", "gene_name": "claudin 5", "omim_gene": [ "602101" ], "alias_name": null, "gene_symbol": "CLDN5", "hgnc_symbol": "CLDN5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:19510547-19515068", "ensembl_id": "ENSG00000184113" } }, "GRch38": { "90": { "location": "22:19523024-19527545", "ensembl_id": "ENSG00000184113" } } }, "hgnc_date_symbol_changed": "1997-03-19" }, "entity_type": "gene", "entity_name": "CLDN5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35714222", "36477332" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Syndromic disorder, MONDO:0002254, CLDN5-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 58, "hash_id": null, "name": "Brain Calcification", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.", "status": "public", "version": "2.6", "version_created": "2026-01-08T18:01:53.861975+11:00", "relevant_disorders": [ "Cerebral calcification", "HP:0002514" ], "stats": { "number_of_genes": 96, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "JTK12", "CD140b", "PDGFR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8804", "gene_name": "platelet derived growth factor receptor beta", "omim_gene": [ "173410" ], "alias_name": null, "gene_symbol": "PDGFRB", "hgnc_symbol": "PDGFRB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:149493400-149535435", "ensembl_id": "ENSG00000113721" } }, "GRch38": { "90": { "location": "5:150113837-150155872", "ensembl_id": "ENSG00000113721" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PDGFRB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31004414", "30979360", "32613555", "34494111" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Basal ganglia calcification, idiopathic, 4, MIM# 615007", "MONDO:0014004" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 58, "hash_id": null, "name": "Brain Calcification", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.", "status": "public", "version": "2.6", "version_created": "2026-01-08T18:01:53.861975+11:00", "relevant_disorders": [ "Cerebral calcification", "HP:0002514" ], "stats": { "number_of_genes": 96, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MANA2X", "HsT19662" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6825", "gene_name": "mannosidase alpha class 2A member 2", "omim_gene": [ "600988" ], "alias_name": null, "gene_symbol": "MAN2A2", "hgnc_symbol": "MAN2A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:91445448-91465814", "ensembl_id": "ENSG00000196547" } }, "GRch38": { "90": { "location": "15:90902218-90922584", "ensembl_id": "ENSG00000196547" } } }, "hgnc_date_symbol_changed": "1997-07-01" }, "entity_type": "gene", "entity_name": "MAN2A2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36357165", "40628855" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 68, "hash_id": null, "name": "Congenital Disorders of Glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.85", "version_created": "2026-04-02T10:46:27.496905+11:00", "relevant_disorders": [ "Abnormal transferrin saturation", "HP:0040135" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "C6ST", "C6ST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1971", "gene_name": "carbohydrate sulfotransferase 3", "omim_gene": [ "603799" ], "alias_name": [ "chondroitin 6 sulfotransferase 1" ], "gene_symbol": "CHST3", "hgnc_symbol": "CHST3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73724123-73773322", "ensembl_id": "ENSG00000122863" } }, "GRch38": { "90": { "location": "10:71964365-72013564", "ensembl_id": "ENSG00000122863" } } }, "hgnc_date_symbol_changed": "1999-04-15" }, "entity_type": "gene", "entity_name": "CHST3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18513679" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 68, "hash_id": null, "name": "Congenital Disorders of Glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.85", "version_created": "2026-04-02T10:46:27.496905+11:00", "relevant_disorders": [ "Abnormal transferrin saturation", "HP:0040135" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1463", "gene_name": "calcium/calmodulin dependent protein kinase II gamma", "omim_gene": [ "602123" ], "alias_name": null, "gene_symbol": "CAMK2G", "hgnc_symbol": "CAMK2G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:75572259-75634343", "ensembl_id": "ENSG00000148660" } }, "GRch38": { "90": { "location": "10:73812501-73874591", "ensembl_id": "ENSG00000148660" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "CAMK2G", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 59, MIM#618522" ], "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": [ "KIAA0978" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18318", "gene_name": "additional sex combs like 1, transcriptional regulator", "omim_gene": [ "612990" ], "alias_name": null, "gene_symbol": "ASXL1", "hgnc_symbol": "ASXL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:30946155-31027122", "ensembl_id": "ENSG00000171456" } }, "GRch38": { "90": { "location": "20:32358344-32439319", "ensembl_id": "ENSG00000171456" } } }, "hgnc_date_symbol_changed": "2002-03-06" }, "entity_type": "gene", "entity_name": "ASXL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33528536", "30542205" ], "evidence": [ "Expert Review Green", "Expert Review", "Literature" ], "phenotypes": [ "Bohring-Opitz syndrome (MIM 605039)" ], "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": [ "DPC4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6770", "gene_name": "SMAD family member 4", "omim_gene": [ "600993" ], "alias_name": null, "gene_symbol": "SMAD4", "hgnc_symbol": "SMAD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:48494410-48611415", "ensembl_id": "ENSG00000141646" } }, "GRch38": { "90": { "location": "18:51028394-51085045", "ensembl_id": "ENSG00000141646" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "SMAD4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.534", "version_created": "2026-03-30T13:14:35.719896+11:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 253, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2935", "gene_name": "doublesex and mab-3 related transcription factor 2", "omim_gene": [ "604935" ], "alias_name": [ "terra-like protein" ], "gene_symbol": "DMRT2", "hgnc_symbol": "DMRT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:1050354-1057552", "ensembl_id": "ENSG00000173253" } }, "GRch38": { "90": { "location": "9:1049858-1057552", "ensembl_id": "ENSG00000173253" } } }, "hgnc_date_symbol_changed": "1999-07-09" }, "entity_type": "gene", "entity_name": "DMRT2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 41014130", "29681102", "16387292" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.534", "version_created": "2026-03-30T13:14:35.719896+11:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 253, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC24665", "BLAP18" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28349", "gene_name": "RecQ mediated genome instability 2", "omim_gene": [ "612426" ], "alias_name": null, "gene_symbol": "RMI2", "hgnc_symbol": "RMI2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:11343476-11445619", "ensembl_id": "ENSG00000175643" } }, "GRch38": { "90": { "location": "16:11249619-11351762", "ensembl_id": "ENSG00000175643" } } }, "hgnc_date_symbol_changed": "2011-06-09" }, "entity_type": "gene", "entity_name": "RMI2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27977684" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bloom-like syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 79, "hash_id": null, "name": "Chromosome Breakage Disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.", "status": "public", "version": "1.24", "version_created": "2025-10-16T15:58:38.818741+11:00", "relevant_disorders": [ "Chromosome breakage HP:0040012" ], "stats": { "number_of_genes": 60, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MRP7", "ABC35", "TNR-CFTR", "dJ760C5.1", "CFTR/MRP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1884", "gene_name": "cystic fibrosis transmembrane conductance regulator", "omim_gene": [ "602421" ], "alias_name": [ "ATP-binding cassette sub-family C, member 7" ], "gene_symbol": "CFTR", "hgnc_symbol": "CFTR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:117105838-117356025", "ensembl_id": "ENSG00000001626" } }, "GRch38": { "90": { "location": "7:117465784-117715971", "ensembl_id": "ENSG00000001626" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CFTR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Cystic fibrosis", "bronchiectasis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "K-FGF", "HBGF-4", "HST", "HST-1", "KFGF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3682", "gene_name": "fibroblast growth factor 4", "omim_gene": [ "164980" ], "alias_name": [ "human stomach cancer, transforming factor from FGF-related oncogene", "kaposi sarcoma oncogene", "transforming protein KS3" ], "gene_symbol": "FGF4", "hgnc_symbol": "FGF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:69587797-69590171", "ensembl_id": "ENSG00000075388" } }, "GRch38": { "90": { "location": "11:69771016-69775403", "ensembl_id": "ENSG00000075388" } } }, "hgnc_date_symbol_changed": "1988-04-20" }, "entity_type": "gene", "entity_name": "FGF4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40259859" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "fumarase" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3700", "gene_name": "fumarate hydratase", "omim_gene": [ "136850" ], "alias_name": null, "gene_symbol": "FH", "hgnc_symbol": "FH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:241660903-241683061", "ensembl_id": "ENSG00000091483" } }, "GRch38": { "90": { "location": "1:241497603-241519761", "ensembl_id": "ENSG00000091483" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23137060" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Fumarase deficiency, MIM#\t606812" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9020", "gene_name": "pyruvate kinase L/R", "omim_gene": [ "609712" ], "alias_name": null, "gene_symbol": "PKLR", "hgnc_symbol": "PKLR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155259630-155271225", "ensembl_id": "ENSG00000143627" } }, "GRch38": { "90": { "location": "1:155289839-155301434", "ensembl_id": "ENSG00000143627" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PKLR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29549173", "8285758", "10923218" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Pyruvate Kinase deficiency, MIM#\t266200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 116, "hash_id": null, "name": "Hydrops fetalis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.", "status": "public", "version": "0.328", "version_created": "2025-07-08T23:27:02.854141+10:00", "relevant_disorders": [ "Hydrops fetalis", "HP:0001789" ], "stats": { "number_of_genes": 169, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IFPS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:33276", "gene_name": "filaggrin family member 2", "omim_gene": [ "616284" ], "alias_name": null, "gene_symbol": "FLG2", "hgnc_symbol": "FLG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:152321211-152332482", "ensembl_id": "ENSG00000143520" } }, "GRch38": { "90": { "location": "1:152348735-152360006", "ensembl_id": "ENSG00000143520" } } }, "hgnc_date_symbol_changed": "2007-08-21" }, "entity_type": "gene", "entity_name": "FLG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29758285", "28884927", "29505760" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Peeling skin syndrome 6, MIM#\t618084" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 124, "hash_id": null, "name": "Ichthyosis and Porokeratosis", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.", "status": "public", "version": "1.25", "version_created": "2026-03-19T12:26:58.874178+11:00", "relevant_disorders": [ "Ichthyosis", "HP:0008064;Porokeratosis", "HP:0200044" ], "stats": { "number_of_genes": 65, "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": "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": [ "Chap1", "Dsk2", "RIHFB2157", "LIC-2", "CHAP1/DSK2", "PLIC-2", "N4BP4", "PLIC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12509", "gene_name": "ubiquilin 2", "omim_gene": [ "300264" ], "alias_name": [ "NEDD4 binding protein 4" ], "gene_symbol": "UBQLN2", "hgnc_symbol": "UBQLN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:56590026-56593443", "ensembl_id": "ENSG00000188021" } }, "GRch38": { "90": { "location": "X:56563639-56567868", "ensembl_id": "ENSG00000188021" } } }, "hgnc_date_symbol_changed": "2000-02-18" }, "entity_type": "gene", "entity_name": "UBQLN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21857683", "31319884", "26152284", "25388785" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MONDO: 0010459", "MIM#300857)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9608", "gene_name": "parathyroid hormone 1 receptor", "omim_gene": [ "168468" ], "alias_name": null, "gene_symbol": "PTH1R", "hgnc_symbol": "PTH1R", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:46919236-46945287", "ensembl_id": "ENSG00000160801" } }, "GRch38": { "90": { "location": "3:46877746-46903799", "ensembl_id": "ENSG00000160801" } } }, "hgnc_date_symbol_changed": "2008-11-18" }, "entity_type": "gene", "entity_name": "PTH1R", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DAP12", "PLO-SL", "KARAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12449", "gene_name": "TYRO protein tyrosine kinase binding protein", "omim_gene": [ "604142" ], "alias_name": [ "killer activating receptor associated protein", "DNAX-activation protein 12" ], "gene_symbol": "TYROBP", "hgnc_symbol": "TYROBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36395303-36399197", "ensembl_id": "ENSG00000011600" } }, "GRch38": { "90": { "location": "19:35904401-35908295", "ensembl_id": "ENSG00000011600" } } }, "hgnc_date_symbol_changed": "1998-06-25" }, "entity_type": "gene", "entity_name": "TYROBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PKBG", "RAC-gamma", "PRKBG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:393", "gene_name": "AKT serine/threonine kinase 3", "omim_gene": [ "611223" ], "alias_name": [ "protein kinase B, gamma" ], "gene_symbol": "AKT3", "hgnc_symbol": "AKT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:243651535-244014381", "ensembl_id": "ENSG00000117020" } }, "GRch38": { "90": { "location": "1:243488233-243851079", "ensembl_id": "ENSG00000117020" } } }, "hgnc_date_symbol_changed": "1999-11-16" }, "entity_type": "gene", "entity_name": "AKT3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28969385" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BIT1", "CGI-147", "PTH2", "CFAP37" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24265", "gene_name": "peptidyl-tRNA hydrolase 2", "omim_gene": [ "608625" ], "alias_name": [ "Bcl-2 inhibitor of transcription", "cilia and flagella associated protein 37" ], "gene_symbol": "PTRH2", "hgnc_symbol": "PTRH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:57751997-57784987", "ensembl_id": "ENSG00000141378" } }, "GRch38": { "90": { "location": "17:59674636-59707626", "ensembl_id": "ENSG00000141378" } } }, "hgnc_date_symbol_changed": "2006-02-22" }, "entity_type": "gene", "entity_name": "PTRH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25558065", "25574476", "31057140", "27129381" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ACTSG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:145", "gene_name": "actin, gamma 2, smooth muscle, enteric", "omim_gene": [ "102545" ], "alias_name": null, "gene_symbol": "ACTG2", "hgnc_symbol": "ACTG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74119441-74146992", "ensembl_id": "ENSG00000163017" } }, "GRch38": { "90": { "location": "2:73892314-73919865", "ensembl_id": "ENSG00000163017" } } }, "hgnc_date_symbol_changed": "1989-12-07" }, "entity_type": "gene", "entity_name": "ACTG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Visceral myopathy, MIM#155310", "Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM#\t619431" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PKBG", "RAC-gamma", "PRKBG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:393", "gene_name": "AKT serine/threonine kinase 3", "omim_gene": [ "611223" ], "alias_name": [ "protein kinase B, gamma" ], "gene_symbol": "AKT3", "hgnc_symbol": "AKT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:243651535-244014381", "ensembl_id": "ENSG00000117020" } }, "GRch38": { "90": { "location": "1:243488233-243851079", "ensembl_id": "ENSG00000117020" } } }, "hgnc_date_symbol_changed": "1999-11-16" }, "entity_type": "gene", "entity_name": "AKT3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "PMID: 22729224" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CHLR1", "KRG2", "CHL1", "ChlR1", "WABS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2736", "gene_name": "DEAD/H-box helicase 11", "omim_gene": [ "601150" ], "alias_name": [ "CHL1-like helicase homolog (S. cerevisiae)" ], "gene_symbol": "DDX11", "hgnc_symbol": "DDX11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:31226779-31257725", "ensembl_id": "ENSG00000013573" } }, "GRch38": { "90": { "location": "12:31073845-31104791", "ensembl_id": "ENSG00000013573" } } }, "hgnc_date_symbol_changed": "1995-12-11" }, "entity_type": "gene", "entity_name": "DDX11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203" ], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [ "Warsaw breakage syndrome, MONDO:0013252" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CEK3", "TK14", "TK25", "ECT1", "K-SAM", "CD332" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3689", "gene_name": "fibroblast growth factor receptor 2", "omim_gene": [ "176943" ], "alias_name": [ "Crouzon syndrome", "Pfeiffer syndrome" ], "gene_symbol": "FGFR2", "hgnc_symbol": "FGFR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:123237848-123357972", "ensembl_id": "ENSG00000066468" } }, "GRch38": { "90": { "location": "10:121478334-121598458", "ensembl_id": "ENSG00000066468" } } }, "hgnc_date_symbol_changed": "1991-05-09" }, "entity_type": "gene", "entity_name": "FGFR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29848297", "32879300", "27323706" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM#\t207410", "Apert syndrome, MIM#\t101200", "Beare-Stevenson cutis gyrata syndrome, MIM#\t123790", "Bent bone dysplasia syndrome, MIM#\t614592", "Craniofacial-skeletal-dermatologic dysplasia, MIM#\t101600", "Craniosynostosis, nonspecific", "Crouzon syndrome\t, MIM#123500", "Jackson-Weiss syndrome,MIM#\t123150", "LADD syndrome, MIM#\t149730", "Pfeiffer syndrome,MIM#\t101600", "Saethre-Chotzen syndrome\t101400" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FMRP", "FRAXA", "MGC87458" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3775", "gene_name": "fragile X mental retardation 1", "omim_gene": [ "309550" ], "alias_name": null, "gene_symbol": "FMR1", "hgnc_symbol": "FMR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:146993469-147032645", "ensembl_id": "ENSG00000102081" } }, "GRch38": { "90": { "location": "X:147911951-147951125", "ensembl_id": "ENSG00000102081" } } }, "hgnc_date_symbol_changed": "1992-01-17" }, "entity_type": "gene", "entity_name": "FMR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8156595", "28176767", "29178241" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fragile X syndrome MONDO:0010383" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [ "STR" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GSD1a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4056", "gene_name": "glucose-6-phosphatase catalytic subunit", "omim_gene": [ "613742" ], "alias_name": [ "glycogen storage disease type I, von Gierke disease" ], "gene_symbol": "G6PC", "hgnc_symbol": "G6PC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:41052814-41065386", "ensembl_id": "ENSG00000131482" } }, "GRch38": { "90": { "location": "17:42900797-42913369", "ensembl_id": "ENSG00000131482" } } }, "hgnc_date_symbol_changed": "1993-11-05" }, "entity_type": "gene", "entity_name": "G6PC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8733042" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease Ia, MIM# 232200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name", "treatable" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9639", "gene_name": "3-hydroxyacyl-CoA dehydratase 1", "omim_gene": [ "610467" ], "alias_name": [ "cementum attachment protein", "Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1" ], "gene_symbol": "HACD1", "hgnc_symbol": "HACD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:17631958-17659376", "ensembl_id": "ENSG00000165996" } }, "GRch38": { "90": { "location": "10:17589032-17617377", "ensembl_id": "ENSG00000165996" } } }, "hgnc_date_symbol_changed": "2015-01-27" }, "entity_type": "gene", "entity_name": "HACD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15829503", "23933735", "32426512" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital myopathy, MONDO:0019952" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DHSR", "SDR35C1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4021", "gene_name": "3-ketodihydrosphingosine reductase", "omim_gene": [ "136440" ], "alias_name": [ "3-dehydrosphinganine reductase", "short chain dehydrogenase/reductase family 35C, member 1" ], "gene_symbol": "KDSR", "hgnc_symbol": "KDSR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:60994959-61034743", "ensembl_id": "ENSG00000119537" } }, "GRch38": { "90": { "location": "18:63327726-63367510", "ensembl_id": "ENSG00000119537" } } }, "hgnc_date_symbol_changed": "2008-02-20" }, "entity_type": "gene", "entity_name": "KDSR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28774589", "30467204", "28575652" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Erythrokeratodermia variabilis et progressiva 4, MIM# 617526", "severe thrombocytopaenia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20695" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22965", "gene_name": "peroxisomal biogenesis factor 26", "omim_gene": [ "608666" ], "alias_name": null, "gene_symbol": "PEX26", "hgnc_symbol": "PEX26", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:18560689-18613905", "ensembl_id": "ENSG00000215193" } }, "GRch38": { "90": { "location": "22:18077920-18131138", "ensembl_id": "ENSG00000215193" } } }, "hgnc_date_symbol_changed": "2003-08-05" }, "entity_type": "gene", "entity_name": "PEX26", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12717447", "15858711", "17336976" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872", "Peroxisome biogenesis disorder 7B - MIM#614873" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0123", "Alpha-MPP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18667", "gene_name": "peptidase, mitochondrial processing alpha subunit", "omim_gene": [ "613036" ], "alias_name": null, "gene_symbol": "PMPCA", "hgnc_symbol": "PMPCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139305110-139318213", "ensembl_id": "ENSG00000165688" } }, "GRch38": { "90": { "location": "9:136410570-136423761", "ensembl_id": "ENSG00000165688" } } }, "hgnc_date_symbol_changed": "2003-06-20" }, "entity_type": "gene", "entity_name": "PMPCA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25808372", "26657514", "33272776", "30617178" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "G7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7328", "gene_name": "mutS homolog 5", "omim_gene": [ "603382" ], "alias_name": null, "gene_symbol": "MSH5", "hgnc_symbol": "MSH5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31707725-31732622", "ensembl_id": "ENSG00000204410" } }, "GRch38": { "90": { "location": "6:31739948-31762834", "ensembl_id": "ENSG00000204410" } } }, "hgnc_date_symbol_changed": "1998-03-10" }, "entity_type": "gene", "entity_name": "MSH5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28175301", "9916805", "24970489" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 74, MIM# 619937", "Premature ovarian failure 13, MIM#617442" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10716", "CLLD7", "CLLL7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18243", "gene_name": "RCC1 and BTB domain containing protein 1", "omim_gene": [ "607867" ], "alias_name": null, "gene_symbol": "RCBTB1", "hgnc_symbol": "RCBTB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:50106082-50159719", "ensembl_id": "ENSG00000136144" } }, "GRch38": { "90": { "location": "13:49531946-49585583", "ensembl_id": "ENSG00000136144" } } }, "hgnc_date_symbol_changed": "2003-05-02" }, "entity_type": "gene", "entity_name": "RCBTB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27486781", "35057699", "33624564", "33104391" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Retinal dystrophy with or without extraocular anomalies, MIM# 617175" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP434L1435", "KIAA1885", "G7a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21642", "gene_name": "valyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "612802" ], "alias_name": [ "valine tRNA ligase 2, mitochondrial" ], "gene_symbol": "VARS2", "hgnc_symbol": "VARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:30876019-30894236", "ensembl_id": "ENSG00000137411" } }, "GRch38": { "90": { "location": "6:30908242-30926459", "ensembl_id": "ENSG00000137411" } } }, "hgnc_date_symbol_changed": "2007-02-23" }, "entity_type": "gene", "entity_name": "VARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24827421", "25058219", "29137650", "29314548", "31064326", "31623496" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 20", "OMIM #615917" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC32955", "CCP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27981", "gene_name": "ATP/GTP binding protein like 3", "omim_gene": [ "617346" ], "alias_name": null, "gene_symbol": "AGBL3", "hgnc_symbol": "AGBL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:134671259-134832715", "ensembl_id": "ENSG00000146856" } }, "GRch38": { "90": { "location": "7:134986508-135147963", "ensembl_id": "ENSG00000146856" } } }, "hgnc_date_symbol_changed": "2005-05-26" }, "entity_type": "gene", "entity_name": "AGBL3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41042736" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hypocomplementemic urticarial vasculitis MONDO:0018227" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp667B1218", "2'-PDE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25386", "gene_name": "phosphodiesterase 12", "omim_gene": [ "616519" ], "alias_name": [ "2'-phosphodiesterase" ], "gene_symbol": "PDE12", "hgnc_symbol": "PDE12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:57542003-57552571", "ensembl_id": "ENSG00000174840" } }, "GRch38": { "90": { "location": "3:57556276-57566844", "ensembl_id": "ENSG00000174840" } } }, "hgnc_date_symbol_changed": "2008-02-27" }, "entity_type": "gene", "entity_name": "PDE12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39567835" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial disease MONDO:0044970, PDE12-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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IL-7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6023", "gene_name": "interleukin 7", "omim_gene": [ "146660" ], "alias_name": null, "gene_symbol": "IL7", "hgnc_symbol": "IL7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:79587978-79717758", "ensembl_id": "ENSG00000104432" } }, "GRch38": { "90": { "location": "8:78675743-78805523", "ensembl_id": "ENSG00000104432" } } }, "hgnc_date_symbol_changed": "1989-10-12" }, "entity_type": "gene", "entity_name": "IL7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39352394" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Combined immunodeficiency, MONDO:0015131, IL7-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": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HLJ1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14886", "gene_name": "DnaJ heat shock protein family (Hsp40) member B4", "omim_gene": [ "611327" ], "alias_name": null, "gene_symbol": "DNAJB4", "hgnc_symbol": "DNAJB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:78444859-78483648", "ensembl_id": "ENSG00000162616" } }, "GRch38": { "90": { "location": "1:77979175-78017964", "ensembl_id": "ENSG00000162616" } } }, "hgnc_date_symbol_changed": "2001-03-09" }, "entity_type": "gene", "entity_name": "DNAJB4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36264506", "36512060" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital myopathy 21 with early respiratory failure, MIM# 620326", "distal myopathy MONDO:0018949" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4739", "version_created": "2026-04-12T14:08:16.491946+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7582", "gene_name": "myosin light chain 1", "omim_gene": [ "160780" ], "alias_name": null, "gene_symbol": "MYL1", "hgnc_symbol": "MYL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:211154874-211179914", "ensembl_id": "ENSG00000168530" } }, "GRch38": { "90": { "location": "2:210290150-210315190", "ensembl_id": "ENSG00000168530" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "MYL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30215711", "40488356" ], "evidence": [ "Expert Review Green", "Other", "NHS GMS" ], "phenotypes": [ "Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 141, "hash_id": null, "name": "Muscular dystrophy and myopathy_Paediatric", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.122", "version_created": "2026-04-02T11:45:25.115390+11:00", "relevant_disorders": [ "Muscular dystrophy", "HP:0003560; Elevated circulating creatine kinase concentration", "HP:0003236; Myopathy", "HP:0003198" ], "stats": { "number_of_genes": 146, "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": [ "NY-CO-8", "CCCAP", "SLSN7", "NPHP10", "BBS16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10671", "gene_name": "serologically defined colon cancer antigen 8", "omim_gene": [ "613524" ], "alias_name": [ "centrosomal colon cancer autoantigen protein", "Bardet-Biedl syndrome 16", "nephrocystin 10", "Senior-Loken syndrome 7" ], "gene_symbol": "SDCCAG8", "hgnc_symbol": "SDCCAG8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:243419320-243663394", "ensembl_id": "ENSG00000054282" } }, "GRch38": { "90": { "location": "1:243256034-243500092", "ensembl_id": "ENSG00000054282" } } }, "hgnc_date_symbol_changed": "1999-08-25" }, "entity_type": "gene", "entity_name": "SDCCAG8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20835237", "22626039", "22626039" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 16, MIM# 615993" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 159, "hash_id": null, "name": "Polydactyly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.", "status": "public", "version": "0.301", "version_created": "2026-03-12T11:30:58.449890+11:00", "relevant_disorders": [ "Polydactyly", "HP:0010442" ], "stats": { "number_of_genes": 141, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Pwdmp", "KIAA1638", "FLJ23127", "ORF26", "DYF-2", "Oseg6", "IFT144", "NPHP13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18340", "gene_name": "WD repeat domain 19", "omim_gene": [ "608151" ], "alias_name": [ "intraflagellar transport 144 homolog (Chlamydomonas)" ], "gene_symbol": "WDR19", "hgnc_symbol": "WDR19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:39184024-39287430", "ensembl_id": "ENSG00000157796" } }, "GRch38": { "90": { "location": "4:39182404-39285810", "ensembl_id": "ENSG00000157796" } } }, "hgnc_date_symbol_changed": "2002-04-26" }, "entity_type": "gene", "entity_name": "WDR19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22019273", "23559409", "23683095" ], "evidence": [ "Expert Review Green", "KidGen_CilioNephronop v38.1.0", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nephronophthisis 13, MIM# 614377", "Senior-Loken syndrome 8, MIM# 616307" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 193, "hash_id": null, "name": "Renal Ciliopathies and Nephronophthisis", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen", "status": "public", "version": "1.53", "version_created": "2026-03-19T17:14:29.802874+11:00", "relevant_disorders": [ "Abnormality of renal medullary morphology", "HP:0025361; Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12559", "gene_name": "uromodulin", "omim_gene": [ "191845" ], "alias_name": [ "Tamm-Horsfall glycoprotein", "uromucoid" ], "gene_symbol": "UMOD", "hgnc_symbol": "UMOD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:20344374-20367623", "ensembl_id": "ENSG00000169344" } }, "GRch38": { "90": { "location": "16:20333052-20356301", "ensembl_id": "ENSG00000169344" } } }, "hgnc_date_symbol_changed": "1992-07-27" }, "entity_type": "gene", "entity_name": "UMOD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "40533238", "23988501", "12471200", "32954071", "33397327", "23396133", "32450155" ], "evidence": [ "Expert Review Green", "KidGen_Cystic v38.1.0" ], "phenotypes": [ "Tubulointerstitial kidney disease, autosomal dominant, 1, MIM# 162000" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 194, "hash_id": null, "name": "Renal Macrocystic Disease", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel is developed was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.", "status": "public", "version": "1.0", "version_created": "2026-03-24T16:17:17.075108+11:00", "relevant_disorders": [ "Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 31, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "P4H-TM", "PHD4", "PH4", "HIFPH4", "FLJ20262", "EGLN4", "PH-4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28858", "gene_name": "prolyl 4-hydroxylase, transmembrane", "omim_gene": [ "614584" ], "alias_name": [ "Prolyl hydroxlase domain-containing 4", "hypoxia inducible factor prolyl 4 hydroxylase" ], "gene_symbol": "P4HTM", "hgnc_symbol": "P4HTM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49027319-49044587", "ensembl_id": "ENSG00000178467" } }, "GRch38": { "90": { "location": "3:48989886-49007154", "ensembl_id": "ENSG00000178467" } } }, "hgnc_date_symbol_changed": "2008-12-08" }, "entity_type": "gene", "entity_name": "P4HTM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25078763", "30940925" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities", "OMIM #618493" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CPSF-73", "CPSF73", "YSH1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2326", "gene_name": "cleavage and polyadenylation specific factor 3", "omim_gene": [ "606029" ], "alias_name": null, "gene_symbol": "CPSF3", "hgnc_symbol": "CPSF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:9563697-9613230", "ensembl_id": "ENSG00000119203" } }, "GRch38": { "90": { "location": "2:9423568-9473101", "ensembl_id": "ENSG00000119203" } } }, "hgnc_date_symbol_changed": "2000-05-31" }, "entity_type": "gene", "entity_name": "CPSF3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35121750" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876" ], "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": [ "BIG2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15853", "gene_name": "ADP ribosylation factor guanine nucleotide exchange factor 2", "omim_gene": [ "605371" ], "alias_name": [ "Brefeldin A-inhibited guanine nucleotide-exchange protein 2" ], "gene_symbol": "ARFGEF2", "hgnc_symbol": "ARFGEF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:47538427-47653230", "ensembl_id": "ENSG00000124198" } }, "GRch38": { "90": { "location": "20:48921890-49036693", "ensembl_id": "ENSG00000124198" } } }, "hgnc_date_symbol_changed": "2001-06-21" }, "entity_type": "gene", "entity_name": "ARFGEF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25160555", "26126837", "23812912" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Periventricular heterotopia with microcephaly (MIM#608097)" ], "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": [ "ANOVA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7887", "gene_name": "NOVA alternative splicing regulator 2", "omim_gene": [ "601991" ], "alias_name": [ "neuro-oncological ventral antigen 3" ], "gene_symbol": "NOVA2", "hgnc_symbol": "NOVA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46436992-46476804", "ensembl_id": "ENSG00000104967" } }, "GRch38": { "90": { "location": "19:45933734-45973546", "ensembl_id": "ENSG00000104967" } } }, "hgnc_date_symbol_changed": "1998-01-16" }, "entity_type": "gene", "entity_name": "NOVA2", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "32197073", "35607920" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSP78", "SKD3", "FLJ13152", "ANKCLB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30664", "gene_name": "ClpB homolog, mitochondrial AAA ATPase chaperonin", "omim_gene": [ "616254" ], "alias_name": [ "suppressor of potassium transport defect 3", "ankyrin-repeat containing bacterial clp fusion" ], "gene_symbol": "CLPB", "hgnc_symbol": "CLPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:72003469-72145692", "ensembl_id": "ENSG00000162129" } }, "GRch38": { "90": { "location": "11:72292425-72434680", "ensembl_id": "ENSG00000162129" } } }, "hgnc_date_symbol_changed": "2005-10-04" }, "entity_type": "gene", "entity_name": "CLPB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25597510", "34140661" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271", "3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835", "Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ATP5A", "hATP1", "OMR", "ORM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:823", "gene_name": "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle", "omim_gene": [ "164360" ], "alias_name": null, "gene_symbol": "ATP5A1", "hgnc_symbol": "ATP5A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:43664110-43684300", "ensembl_id": "ENSG00000152234" } }, "GRch38": { "90": { "location": "18:46080248-46104334", "ensembl_id": "ENSG00000152234" } } }, "hgnc_date_symbol_changed": "1993-02-25" }, "entity_type": "gene", "entity_name": "ATP5A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23599390", "23596069", "34483339", "34954817", "40672495" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358)", "Combined oxidative phosphorylation deficiency 22 616045", "Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228", "Mitochondrial disorder, autosomal dominant" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "new gene name" ], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LIS1", "PAFAH", "NudF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8574", "gene_name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1", "omim_gene": [ "601545" ], "alias_name": [ "lissencephaly-1" ], "gene_symbol": "PAFAH1B1", "hgnc_symbol": "PAFAH1B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:2496504-2588909", "ensembl_id": "ENSG00000007168" } }, "GRch38": { "90": { "location": "17:2593210-2685615", "ensembl_id": "ENSG00000007168" } } }, "hgnc_date_symbol_changed": "1998-04-03" }, "entity_type": "gene", "entity_name": "PAFAH1B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11754098", "18285425" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Lissencephaly 1, MIM# 607432", "Subcortical laminar heterotopia, MIM# 607432", "MONDO:0011830" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "SV/CNV" ], "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": [ "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": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SFA-1", "PETA-3", "TSPAN24", "RAPH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1630", "gene_name": "CD151 molecule (Raph blood group)", "omim_gene": [ "602243" ], "alias_name": null, "gene_symbol": "CD151", "hgnc_symbol": "CD151", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:832843-839831", "ensembl_id": "ENSG00000177697" } }, "GRch38": { "90": { "location": "11:832843-839831", "ensembl_id": "ENSG00000177697" } } }, "hgnc_date_symbol_changed": "1997-04-10" }, "entity_type": "gene", "entity_name": "CD151", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "15265795", "29138120" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DUTT1", "FLJ21882", "SAX3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10249", "gene_name": "roundabout guidance receptor 1", "omim_gene": [ "602430" ], "alias_name": null, "gene_symbol": "ROBO1", "hgnc_symbol": "ROBO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:78646390-79816965", "ensembl_id": "ENSG00000169855" } }, "GRch38": { "90": { "location": "3:78597240-79767815", "ensembl_id": "ENSG00000169855" } } }, "hgnc_date_symbol_changed": "1998-03-26" }, "entity_type": "gene", "entity_name": "ROBO1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28286008", "30692597", "35227688", "35348658" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurooculorenal syndrome, MIM# 620305" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22315", "DOR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18623", "gene_name": "component of oligomeric golgi complex 8", "omim_gene": [ "606979" ], "alias_name": null, "gene_symbol": "COG8", "hgnc_symbol": "COG8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:69354043-69373570", "ensembl_id": "ENSG00000213380" } }, "GRch38": { "90": { "location": "16:69320140-69339583", "ensembl_id": "ENSG00000213380" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "COG8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17220172", "28619360", "30690882", "17331980" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIh, MIM# 611182" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4006", "gene_name": "alpha-L-fucosidase 1", "omim_gene": [ "612280" ], "alias_name": [ "α-L-fucosidase 1", "tissue fucosidase", "a-L-fucosidase 1" ], "gene_symbol": "FUCA1", "hgnc_symbol": "FUCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24171567-24194784", "ensembl_id": "ENSG00000179163" } }, "GRch38": { "90": { "location": "1:23845077-23868294", "ensembl_id": "ENSG00000179163" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FUCA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33266441" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Fucosidosis MONDO:0009254" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NIMP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18647", "gene_name": "reticulon 4 interacting protein 1", "omim_gene": [ "610502" ], "alias_name": null, "gene_symbol": "RTN4IP1", "hgnc_symbol": "RTN4IP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:107018903-107077373", "ensembl_id": "ENSG00000130347" } }, "GRch38": { "90": { "location": "6:106571971-106629487", "ensembl_id": "ENSG00000130347" } } }, "hgnc_date_symbol_changed": "2002-05-23" }, "entity_type": "gene", "entity_name": "RTN4IP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26593267" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HIOMT", "ASMTY", "HIOMTY" ], "biotype": "protein_coding", "hgnc_id": "HGNC:750", "gene_name": "acetylserotonin O-methyltransferase", "omim_gene": [ "300015", "402500" ], "alias_name": null, "gene_symbol": "ASMT", "hgnc_symbol": "ASMT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:1733894-1761974", "ensembl_id": "ENSG00000196433" } }, "GRch38": { "90": { "location": "X:1615001-1643081", "ensembl_id": "ENSG00000196433" } } }, "hgnc_date_symbol_changed": "1992-12-11" }, "entity_type": "gene", "entity_name": "ASMT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21251267" ], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [], "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": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC2404" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23339", "gene_name": "acyl-CoA binding domain containing 6", "omim_gene": [ "616352" ], "alias_name": null, "gene_symbol": "ACBD6", "hgnc_symbol": "ACBD6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:180238788-180245359", "ensembl_id": "ENSG00000230124" } }, "GRch38": { "90": { "location": "1:180269653-180502954", "ensembl_id": "ENSG00000230124" } } }, "hgnc_date_symbol_changed": "2003-11-11" }, "entity_type": "gene", "entity_name": "ACBD6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36457943", "21937992", "35446914" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dJ1187M17.3", "UFBP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16110", "gene_name": "DDRGK domain containing 1", "omim_gene": [ "616177" ], "alias_name": [ "Dashurin" ], "gene_symbol": "DDRGK1", "hgnc_symbol": "DDRGK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:3170996-3185331", "ensembl_id": "ENSG00000198171" } }, "GRch38": { "90": { "location": "20:3190350-3204685", "ensembl_id": "ENSG00000198171" } } }, "hgnc_date_symbol_changed": "2008-10-03" }, "entity_type": "gene", "entity_name": "DDRGK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28263186", "35377455", "35670300", "36243336" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "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": [ "FLJ11457", "JBTS11", "NPHP12", "IFT139B", "THM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25660", "gene_name": "tetratricopeptide repeat domain 21B", "omim_gene": [ "612014" ], "alias_name": null, "gene_symbol": "TTC21B", "hgnc_symbol": "TTC21B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:166713985-166810353", "ensembl_id": "ENSG00000123607" } }, "GRch38": { "90": { "location": "2:165857475-165953843", "ensembl_id": "ENSG00000123607" } } }, "hgnc_date_symbol_changed": "2005-01-26" }, "entity_type": "gene", "entity_name": "TTC21B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "Illumina TruGenome Clinical Sequencing Services", "NHS GMS", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [ "SRTD4", "Asphyxiating Thoracic Dystrophy", "Nephronophthisis 12, 613820" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PCDGF", "PGRN", "CLN11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4601", "gene_name": "granulin precursor", "omim_gene": [ "138945" ], "alias_name": [ "progranulin" ], "gene_symbol": "GRN", "hgnc_symbol": "GRN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42422614-42430470", "ensembl_id": "ENSG00000030582" } }, "GRch38": { "90": { "location": "17:44345086-44353102", "ensembl_id": "ENSG00000030582" } } }, "hgnc_date_symbol_changed": "1992-11-30" }, "entity_type": "gene", "entity_name": "GRN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Frontotemporal lobar degeneration with ubiquitin-positive inclusions,\tMIM#607485" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.344", "version_created": "2026-04-06T11:07:45.734922+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "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": [ "AD3L", "STM2", "PS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9509", "gene_name": "presenilin 2", "omim_gene": [ "600759" ], "alias_name": null, "gene_symbol": "PSEN2", "hgnc_symbol": "PSEN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:227057885-227083806", "ensembl_id": "ENSG00000143801" } }, "GRch38": { "90": { "location": "1:226870184-226896105", "ensembl_id": "ENSG00000143801" } } }, "hgnc_date_symbol_changed": "1995-08-30" }, "entity_type": "gene", "entity_name": "PSEN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "36845656" ], "evidence": [ "Other", "Expert Review Green", "Expert Review Green", "Other" ], "phenotypes": [ "early-onset autosomal dominant Alzheimer disease MONDO:0015140" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hCHT", "CHT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14025", "gene_name": "solute carrier family 5 member 7", "omim_gene": [ "608761" ], "alias_name": null, "gene_symbol": "SLC5A7", "hgnc_symbol": "SLC5A7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:108602979-108630450", "ensembl_id": "ENSG00000115665" } }, "GRch38": { "90": { "location": "2:107986523-108013994", "ensembl_id": "ENSG00000115665" } } }, "hgnc_date_symbol_changed": "2000-11-27" }, "entity_type": "gene", "entity_name": "SLC5A7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23141292", "15173594", "29782645", "29582019" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580", "MONDO:0008024" ], "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": [ "MOKA", "SP329", "FLJ13962", "Fbx38" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28844", "gene_name": "F-box protein 38", "omim_gene": [ "608533" ], "alias_name": null, "gene_symbol": "FBXO38", "hgnc_symbol": "FBXO38", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:147763498-147822399", "ensembl_id": "ENSG00000145868" } }, "GRch38": { "90": { "location": "5:148383935-148442836", "ensembl_id": "ENSG00000145868" } } }, "hgnc_date_symbol_changed": "2004-06-15" }, "entity_type": "gene", "entity_name": "FBXO38", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Amber", "Expert Review Amber" ], "phenotypes": [ "Neuronopathy, distal hereditary motor, type IID, 615575", "dHMN/dSMA" ], "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": [ "FLJ13995", "CGI-04", "mt-TyrRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24249", "gene_name": "tyrosyl-tRNA synthetase 2", "omim_gene": [ "610957" ], "alias_name": [ "tyrosine tRNA ligase 2, mitochondrial" ], "gene_symbol": "YARS2", "hgnc_symbol": "YARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:32880424-32908836", "ensembl_id": "ENSG00000139131" } }, "GRch38": { "90": { "location": "12:32727490-32755902", "ensembl_id": "ENSG00000139131" } } }, "hgnc_date_symbol_changed": "2005-06-28" }, "entity_type": "gene", "entity_name": "YARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28395030" ], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3084, "hash_id": null, "name": "Rhabdomyolysis and Metabolic Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.46", "version_created": "2026-03-31T19:05:14.301918+11:00", "relevant_disorders": [ "Rhabdomyolysis", "HP:0003201;Exercise intolerance", "HP:0003546;Metabolic myopathy", "MONDO:0020123" ], "stats": { "number_of_genes": 124, "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": [ "MEK1", "MAPKK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6840", "gene_name": "mitogen-activated protein kinase kinase 1", "omim_gene": [ "176872" ], "alias_name": null, "gene_symbol": "MAP2K1", "hgnc_symbol": "MAP2K1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:66679155-66784650", "ensembl_id": "ENSG00000169032" } }, "GRch38": { "90": { "location": "15:66386817-66492312", "ensembl_id": "ENSG00000169032" } } }, "hgnc_date_symbol_changed": "1993-11-05" }, "entity_type": "gene", "entity_name": "MAP2K1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments", "publications": [ "21396583", "23321623" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Cardiofaciocutaneous syndrome 3 615279" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3098, "hash_id": null, "name": "Lymphoedema", "disease_group": "Cardiovascular disorders", "disease_sub_group": "Lymphatic Disorders", "description": "The panel contains genes associated with nonsyndromic and syndromic lymphoedema.", "status": "public", "version": "0.32", "version_created": "2026-02-06T22:04:55.315713+11:00", "relevant_disorders": [ "Lymphedema", "HP:0001004" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:27288", "gene_name": "acyl-CoA synthetase family member 3", "omim_gene": [ "614245" ], "alias_name": [ "malonyl-CoA synthetase" ], "gene_symbol": "ACSF3", "hgnc_symbol": "ACSF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:89154783-89222254", "ensembl_id": "ENSG00000176715" } }, "GRch38": { "90": { "location": "16:89088375-89155846", "ensembl_id": "ENSG00000176715" } } }, "hgnc_date_symbol_changed": "2007-10-17" }, "entity_type": "gene", "entity_name": "ACSF3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Mackenzie's Mission" ], "phenotypes": [ "Combined malonic and methylmalonic aciduria, MIM#614265" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TAUT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11052", "gene_name": "solute carrier family 6 member 6", "omim_gene": [ "186854" ], "alias_name": [ "taurine transporter" ], "gene_symbol": "SLC6A6", "hgnc_symbol": "SLC6A6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:14444076-14530857", "ensembl_id": "ENSG00000131389" } }, "GRch38": { "90": { "location": "3:14402576-14489349", "ensembl_id": "ENSG00000131389" } } }, "hgnc_date_symbol_changed": "1994-05-25" }, "entity_type": "gene", "entity_name": "SLC6A6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31345061", "31903486", "29886034", "41343195" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Hypotaurinemic retinal degeneration and cardiomyopathy MMI#145350" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3147, "hash_id": null, "name": "Cone-rod Dystrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.68", "version_created": "2026-04-11T11:12:33.696021+10:00", "relevant_disorders": [ "Retinal dystrophy", "HP:0000556" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RAFT1", "RAPT1", "FLJ44809" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3942", "gene_name": "mechanistic target of rapamycin kinase", "omim_gene": [ "601231" ], "alias_name": [ "FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin" ], "gene_symbol": "MTOR", "hgnc_symbol": "MTOR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:11166592-11322564", "ensembl_id": "ENSG00000198793" } }, "GRch38": { "90": { "location": "1:11106535-11262507", "ensembl_id": "ENSG00000198793" } } }, "hgnc_date_symbol_changed": "2009-05-29" }, "entity_type": "gene", "entity_name": "MTOR", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "29174369", "28892148" ], "evidence": [ "Expert Review Amber", "Expert list", "Expert list" ], "phenotypes": [ "Smith-Kingsmore syndrome 616638", "Focal cortical dysplasia, type II, somatic 607341" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 3181, "hash_id": null, "name": "Vascular Malformations_Somatic", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes that cause vascular malformations as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nIf a germline disorder is suspected, please use the Vascular Malformations_Germline panel.", "status": "public", "version": "1.16", "version_created": "2025-10-02T12:54:21.549968+10:00", "relevant_disorders": [ "Abnormal vascular morphology HP:0025015" ], "stats": { "number_of_genes": 25, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KRM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17550", "gene_name": "kringle containing transmembrane protein 1", "omim_gene": [ "609898" ], "alias_name": null, "gene_symbol": "KREMEN1", "hgnc_symbol": "KREMEN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29469066-29564321", "ensembl_id": "ENSG00000183762" } }, "GRch38": { "90": { "location": "22:29073078-29168333", "ensembl_id": "ENSG00000183762" } } }, "hgnc_date_symbol_changed": "2002-11-15" }, "entity_type": "gene", "entity_name": "KREMEN1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27049303", "27550540" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Ectodermal dysplasia 13, hair/tooth type MIM#617392" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3269, "hash_id": null, "name": "Hair disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.84", "version_created": "2026-03-30T12:08:41.487037+11:00", "relevant_disorders": [ "Abnormal hair morphology", "HP:0001595" ], "stats": { "number_of_genes": 60, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PCN3", "P450PCN3", "CP35" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2638", "gene_name": "cytochrome P450 family 3 subfamily A member 5", "omim_gene": [ "605325" ], "alias_name": null, "gene_symbol": "CYP3A5", "hgnc_symbol": "CYP3A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:99245817-99277621", "ensembl_id": "ENSG00000106258" } }, "GRch38": { "90": { "location": "7:99648194-99679998", "ensembl_id": "ENSG00000106258" } } }, "hgnc_date_symbol_changed": "1990-02-24" }, "entity_type": "gene", "entity_name": "CYP3A5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25801146", "25201288" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Tacrolimus" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3271, "hash_id": null, "name": "Pharmacogenomics_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is under development, to be used by the Australian Genomics Acute Care Flagship.", "status": "public", "version": "0.50", "version_created": "2020-08-27T20:53:11.205850+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6638", "gene_name": "lamin B2", "omim_gene": [ "150341" ], "alias_name": null, "gene_symbol": "LMNB2", "hgnc_symbol": "LMNB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:2427636-2456994", "ensembl_id": "ENSG00000176619" } }, "GRch38": { "90": { "location": "19:2427638-2456996", "ensembl_id": "ENSG00000176619" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "LMNB2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Lipodystrophy, partial" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HIL-10R", "CDW210A", "CD210a", "CD210" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5964", "gene_name": "interleukin 10 receptor subunit alpha", "omim_gene": [ "146933" ], "alias_name": null, "gene_symbol": "IL10RA", "hgnc_symbol": "IL10RA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:117857063-117872196", "ensembl_id": "ENSG00000110324" } }, "GRch38": { "90": { "location": "11:117986348-118003037", "ensembl_id": "ENSG00000110324" } } }, "hgnc_date_symbol_changed": "1994-05-12" }, "entity_type": "gene", "entity_name": "IL10RA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Inflammatory bowel disease" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14581", "gene_name": "PTEN induced putative kinase 1", "omim_gene": [ "608309" ], "alias_name": null, "gene_symbol": "PINK1", "hgnc_symbol": "PINK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:20959948-20978004", "ensembl_id": "ENSG00000158828" } }, "GRch38": { "90": { "location": "1:20633455-20651511", "ensembl_id": "ENSG00000158828" } } }, "hgnc_date_symbol_changed": "2001-02-08" }, "entity_type": "gene", "entity_name": "PINK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Parkinson disease 6, early onset" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TR", "hTR", "TRC3", "SCARNA19" ], "biotype": "lincRNA", "hgnc_id": "HGNC:11727", "gene_name": "telomerase RNA component", "omim_gene": [ "602322" ], "alias_name": [ "small Cajal body-specific RNA 19" ], "gene_symbol": "TERC", "hgnc_symbol": "TERC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:169482308-169482848", "ensembl_id": "ENSG00000270141" } }, "GRch38": { "90": { "location": "3:169764520-169765060", "ensembl_id": "ENSG00000270141" } } }, "hgnc_date_symbol_changed": "1997-07-25" }, "entity_type": "gene", "entity_name": "TERC", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "BabySeq Category B gene" ], "phenotypes": [ "Dyskeratosis congenita" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ31937", "EPM1B", "RILP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17019", "gene_name": "prickle planar cell polarity protein 1", "omim_gene": [ "608500" ], "alias_name": [ "REST/NRSF interacting LIM domain protein" ], "gene_symbol": "PRICKLE1", "hgnc_symbol": "PRICKLE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:42852140-42984157", "ensembl_id": "ENSG00000139174" } }, "GRch38": { "90": { "location": "12:42456757-42590355", "ensembl_id": "ENSG00000139174" } } }, "hgnc_date_symbol_changed": "2003-02-10" }, "entity_type": "gene", "entity_name": "PRICKLE1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Epilepsy, progressive myoclonic 1B" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AMF", "NLK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4458", "gene_name": "glucose-6-phosphate isomerase", "omim_gene": [ "172400" ], "alias_name": null, "gene_symbol": "GPI", "hgnc_symbol": "GPI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:34850385-34893061", "ensembl_id": "ENSG00000105220" } }, "GRch38": { "90": { "location": "19:34359480-34402156", "ensembl_id": "ENSG00000105220" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GPI", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8499925", "9856489", "32103498" ], "evidence": [ "Expert Review Green", "Yorkshire and North East GLH", "NHS GMS", "Wessex and West Midlands GLH", "North West GLH", "London South GLH" ], "phenotypes": [ "Haemolytic anaemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3366, "hash_id": null, "name": "Red cell disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.", "status": "public", "version": "1.52", "version_created": "2026-03-28T15:18:36.006857+11:00", "relevant_disorders": [ "Abnormal erythrocyte morphology", "HP:0001877" ], "stats": { "number_of_genes": 116, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3084", "gene_name": "dishevelled segment polarity protein 1", "omim_gene": [ "601365" ], "alias_name": null, "gene_symbol": "DVL1", "hgnc_symbol": "DVL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:1270656-1284730", "ensembl_id": "ENSG00000107404" } }, "GRch38": { "90": { "location": "1:1335276-1349350", "ensembl_id": "ENSG00000107404" } } }, "hgnc_date_symbol_changed": "1996-03-12" }, "entity_type": "gene", "entity_name": "DVL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "DRS2", "ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16959", "gene_name": "YKT6 v-SNARE homolog", "omim_gene": [ "606209" ], "alias_name": [ "R-SNARE" ], "gene_symbol": "YKT6", "hgnc_symbol": "YKT6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:44240567-44253893", "ensembl_id": "ENSG00000106636" } }, "GRch38": { "90": { "location": "7:44200968-44214294", "ensembl_id": "ENSG00000106636" } } }, "hgnc_date_symbol_changed": "2006-04-21" }, "entity_type": "gene", "entity_name": "YKT6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38522068" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Syndromic disease, MONDO:0002254, YKT6-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3400, "hash_id": null, "name": "Liver Failure_Paediatric", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.", "status": "public", "version": "1.33", "version_created": "2026-01-08T17:48:33.703909+11:00", "relevant_disorders": [ "Liver failure", "HP:0001399" ], "stats": { "number_of_genes": 68, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PURH", "AICARFT", "IMPCHASE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:794", "gene_name": "5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase", "omim_gene": [ "601731" ], "alias_name": [ "phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase" ], "gene_symbol": "ATIC", "hgnc_symbol": "ATIC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:216176540-216214487", "ensembl_id": "ENSG00000138363" } }, "GRch38": { "90": { "location": "2:215311817-215349773", "ensembl_id": "ENSG00000138363" } } }, "hgnc_date_symbol_changed": "1997-05-15" }, "entity_type": "gene", "entity_name": "ATIC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "15114530", "32557644" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "AICA-ribosiduria due to ATIC deficiency MIM#608688", "disorders of purine metabolism" ], "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": [ "IGDCC1", "NTN1R1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2701", "gene_name": "DCC netrin 1 receptor", "omim_gene": [ "120470" ], "alias_name": [ "immunoglobulin superfamily, DCC subclass, member 1" ], "gene_symbol": "DCC", "hgnc_symbol": "DCC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:49866542-51057784", "ensembl_id": "ENSG00000187323" } }, "GRch38": { "90": { "location": "18:52340172-53535903", "ensembl_id": "ENSG00000187323" } } }, "hgnc_date_symbol_changed": "1990-05-25" }, "entity_type": "gene", "entity_name": "DCC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20431009", "31697046", "21242494", "28250454", "28250456" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600", "Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LIN41", "LIN-41" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32669", "gene_name": "tripartite motif containing 71", "omim_gene": null, "alias_name": null, "gene_symbol": "TRIM71", "hgnc_symbol": "TRIM71", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:32859510-32939318", "ensembl_id": "ENSG00000206557" } }, "GRch38": { "90": { "location": "3:32818018-32897826", "ensembl_id": "ENSG00000206557" } } }, "hgnc_date_symbol_changed": "2006-03-30" }, "entity_type": "gene", "entity_name": "TRIM71", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29983323", "32168371", "30975633" ], "evidence": [ "Expert Review Green", "Expert list", "Literature" ], "phenotypes": [ "Congenital hydrocephalus 4 (MIM#618667)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GP130", "LRP130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15714", "gene_name": "leucine rich pentatricopeptide repeat containing", "omim_gene": [ "607544" ], "alias_name": null, "gene_symbol": "LRPPRC", "hgnc_symbol": "LRPPRC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:44113647-44223144", "ensembl_id": "ENSG00000138095" } }, "GRch38": { "90": { "location": "2:43886508-43996005", "ensembl_id": "ENSG00000138095" } } }, "hgnc_date_symbol_changed": "2001-06-04" }, "entity_type": "gene", "entity_name": "LRPPRC", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32972427", "26510951", "21266382" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PDIA12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30739", "gene_name": "thioredoxin related transmembrane protein 2", "omim_gene": [ "616715" ], "alias_name": [ "protein disulfide isomerase family A, member 12" ], "gene_symbol": "TMX2", "hgnc_symbol": "TMX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:57480072-57508445", "ensembl_id": "ENSG00000213593" } }, "GRch38": { "90": { "location": "11:57712600-57740973", "ensembl_id": "ENSG00000213593" } } }, "hgnc_date_symbol_changed": "2009-02-23" }, "entity_type": "gene", "entity_name": "TMX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31586943", "31735293", "31270415" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887", "Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCLH", "DC", "LISX", "DBCN", "XLIS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2714", "gene_name": "doublecortin", "omim_gene": [ "300121" ], "alias_name": [ "doublecortex" ], "gene_symbol": "DCX", "hgnc_symbol": "DCX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:110537007-110655603", "ensembl_id": "ENSG00000077279" } }, "GRch38": { "90": { "location": "X:111293779-111412429", "ensembl_id": "ENSG00000077279" } } }, "hgnc_date_symbol_changed": "1998-03-24" }, "entity_type": "gene", "entity_name": "DCX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301364", "10915612", "9489699", "12552055" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Lissencephaly, X-linked, MIM# 300067", "Subcortical laminal heterotopia, X-linked 300067" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JBTS4", "SLSN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7905", "gene_name": "nephrocystin 1", "omim_gene": [ "607100" ], "alias_name": null, "gene_symbol": "NPHP1", "hgnc_symbol": "NPHP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:110879888-110962643", "ensembl_id": "ENSG00000144061" } }, "GRch38": { "90": { "location": "2:110122311-110205066", "ensembl_id": "ENSG00000144061" } } }, "hgnc_date_symbol_changed": "1991-08-08" }, "entity_type": "gene", "entity_name": "NPHP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Nephronophthisis 1, juvenile MIM#256100", "Joubert syndrome 4 MIM#609583", "Senior-Loken syndrome-1 MIM#266900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SUTAL", "BLOC2S1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15597", "gene_name": "HPS3, biogenesis of lysosomal organelles complex 2 subunit 1", "omim_gene": [ "606118" ], "alias_name": null, "gene_symbol": "HPS3", "hgnc_symbol": "HPS3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:148847371-148891519", "ensembl_id": "ENSG00000163755" } }, "GRch38": { "90": { "location": "3:149129584-149173732", "ensembl_id": "ENSG00000163755" } } }, "hgnc_date_symbol_changed": "2001-06-13" }, "entity_type": "gene", "entity_name": "HPS3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11455388", "31880485", "31621111", "30990103" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hermansky-Pudlak syndrome 3 MIM#614072" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JAM-C", "JAMC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15532", "gene_name": "junctional adhesion molecule 3", "omim_gene": [ "606871" ], "alias_name": null, "gene_symbol": "JAM3", "hgnc_symbol": "JAM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:133938820-134021896", "ensembl_id": "ENSG00000166086" } }, "GRch38": { "90": { "location": "11:134068925-134152001", "ensembl_id": "ENSG00000166086" } } }, "hgnc_date_symbol_changed": "2001-04-26" }, "entity_type": "gene", "entity_name": "JAM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23255084", "21109224", "34292449" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Haemorrhagic destruction of the brain, subependymal calcification, and cataracts MIM#613730" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9451", "gene_name": "protein C, inactivator of coagulation factors Va and VIIIa", "omim_gene": [ "612283" ], "alias_name": [ "prepro-protein C" ], "gene_symbol": "PROC", "hgnc_symbol": "PROC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:128176003-128186822", "ensembl_id": "ENSG00000115718" } }, "GRch38": { "90": { "location": "2:127418427-127429246", "ensembl_id": "ENSG00000115718" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PROC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11429", "gene_name": "syntaxin 11", "omim_gene": [ "605014" ], "alias_name": null, "gene_symbol": "STX11", "hgnc_symbol": "STX11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:144471663-144509507", "ensembl_id": "ENSG00000135604" } }, "GRch38": { "90": { "location": "6:144150526-144188370", "ensembl_id": "ENSG00000135604" } } }, "hgnc_date_symbol_changed": "1998-11-30" }, "entity_type": "gene", "entity_name": "STX11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20486178", "16582076" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LGR3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12373", "gene_name": "thyroid stimulating hormone receptor", "omim_gene": [ "603372" ], "alias_name": null, "gene_symbol": "TSHR", "hgnc_symbol": "TSHR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:81421333-81612646", "ensembl_id": "ENSG00000165409" } }, "GRch38": { "90": { "location": "14:80954989-81146302", "ensembl_id": "ENSG00000165409" } } }, "hgnc_date_symbol_changed": "1990-03-05" }, "entity_type": "gene", "entity_name": "TSHR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8981017", "20515734" ], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "endocrine" ], "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:634", "gene_name": "aquaporin 2", "omim_gene": [ "107777" ], "alias_name": null, "gene_symbol": "AQP2", "hgnc_symbol": "AQP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:50344524-50352664", "ensembl_id": "ENSG00000167580" } }, "GRch38": { "90": { "location": "12:49950741-49958881", "ensembl_id": "ENSG00000167580" } } }, "hgnc_date_symbol_changed": "1993-07-09" }, "entity_type": "gene", "entity_name": "AQP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7537761", "11536078" ], "evidence": [ "Expert Review Green", "BeginNGS" ], "phenotypes": [ "Diabetes insipidus, nephrogenic, 2, MIM#125800" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "treatable", "clinical trial", "endocrine" ], "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": [ "CYP1", "P450c1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2606", "gene_name": "cytochrome P450 family 27 subfamily B member 1", "omim_gene": [ "609506" ], "alias_name": [ "VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase" ], "gene_symbol": "CYP27B1", "hgnc_symbol": "CYP27B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:58156117-58162769", "ensembl_id": "ENSG00000111012" } }, "GRch38": { "90": { "location": "12:57762334-57768986", "ensembl_id": "ENSG00000111012" } } }, "hgnc_date_symbol_changed": "1998-03-24" }, "entity_type": "gene", "entity_name": "CYP27B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Vitamin D-dependent rickets, type I MIM#264700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "endocrine" ], "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": [ "MOCOD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7190", "gene_name": "molybdenum cofactor synthesis 1", "omim_gene": [ "603707" ], "alias_name": null, "gene_symbol": "MOCS1", "hgnc_symbol": "MOCS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:39867354-39902290", "ensembl_id": "ENSG00000124615" } }, "GRch38": { "90": { "location": "6:39899578-39934551", "ensembl_id": "ENSG00000124615" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "MOCS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20385644", "26343839" ], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Molybdenum cofactor deficiency, MIM#252150" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "metabolic" ], "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": [ "CDHR23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13733", "gene_name": "cadherin related 23", "omim_gene": [ "605516" ], "alias_name": [ "cadherin-related family member 23" ], "gene_symbol": "CDH23", "hgnc_symbol": "CDH23", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73156691-73575702", "ensembl_id": "ENSG00000107736" } }, "GRch38": { "90": { "location": "10:71396934-71815947", "ensembl_id": "ENSG00000107736" } } }, "hgnc_date_symbol_changed": "2000-10-19" }, "entity_type": "gene", "entity_name": "CDH23", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33316915" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Usher syndrome, type 1D (MIM#601067)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FAD", "FAD1", "BRCC2", "XRCC11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1101", "gene_name": "BRCA2, DNA repair associated", "omim_gene": [ "600185" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 2" ], "gene_symbol": "BRCA2", "hgnc_symbol": "BRCA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:32889611-32973805", "ensembl_id": "ENSG00000139618" } }, "GRch38": { "90": { "location": "13:32315474-32400266", "ensembl_id": "ENSG00000139618" } } }, "hgnc_date_symbol_changed": "1994-10-17" }, "entity_type": "gene", "entity_name": "BRCA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "BRCA2-related cancer predisposition, MONDO:0700269", "Breast-ovarian cancer, familial, 2, MIM#612555" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4375, "hash_id": null, "name": "Breast Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-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 breast 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": "1.19", "version_created": "2026-01-12T09:35:45.451588+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 29, "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": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Nav1.5", "LQT3", "HB1", "HBBD", "PFHB1", "IVF", "HB2", "HH1", "SSS1", "CDCD2", "CMPD2", "ICCD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10593", "gene_name": "sodium voltage-gated channel alpha subunit 5", "omim_gene": [ "600163" ], "alias_name": [ "long QT syndrome 3" ], "gene_symbol": "SCN5A", "hgnc_symbol": "SCN5A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:38589548-38691164", "ensembl_id": "ENSG00000183873" } }, "GRch38": { "90": { "location": "3:38548057-38649673", "ensembl_id": "ENSG00000183873" } } }, "hgnc_date_symbol_changed": "1992-04-10" }, "entity_type": "gene", "entity_name": "SCN5A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39134129", "11804990", "16643399", "15466643" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "progressive familial heart block MONDO:0019490", "SCN5A-related cardiac rhythm disorder MONDO:1010181" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4422, "hash_id": null, "name": "Cardiac conduction disease", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes associated with cardiac conduction disease, including heart block and abnormal atrioventricular conduction. It contains all the genes associated with Sick sinus syndrome.\r\n\r\nThis panel is based on the PanelApp UK \"Progressive cardiac conduction disease\" panel, with thanks to Genomics England. It is a constituent of the Arrhythmia Superpanel and Adult Cardiac Superpanel.", "status": "public", "version": "1.6", "version_created": "2026-02-19T13:33:52.737749+11:00", "relevant_disorders": [ "Cardiac conduction abnormality", "HP:0031546" ], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hdhc9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2952", "gene_name": "dynein axonemal heavy chain 8", "omim_gene": [ "603337" ], "alias_name": null, "gene_symbol": "DNAH8", "hgnc_symbol": "DNAH8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:38683117-38998301", "ensembl_id": "ENSG00000124721" } }, "GRch38": { "90": { "location": "6:38715341-39030529", "ensembl_id": "ENSG00000124721" } } }, "hgnc_date_symbol_changed": "1995-11-15" }, "entity_type": "gene", "entity_name": "DNAH8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31178125, 32619401, 32681648, 33704367" ], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [ "Spermatogenic failure 46, MONDO:0033673" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.140", "version_created": "2026-04-06T10:51:58.181866+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 264, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OPCA3", "ADCAII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10560", "gene_name": "ataxin 7", "omim_gene": [ "607640" ], "alias_name": null, "gene_symbol": "ATXN7", "hgnc_symbol": "ATXN7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:63850233-63989138", "ensembl_id": "ENSG00000163635" } }, "GRch38": { "90": { "location": "3:63864557-64003462", "ensembl_id": "ENSG00000163635" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "str", "entity_name": "ATXN7_SCA7_CAG", "confidence_level": "3", "penetrance": null, "publications": [ "8908515", "29325606", "20301433" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia 7 MIM#164500" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "3", "grch37_coordinates": [ 63898362, 63898391 ], "grch38_coordinates": [ 63912686, 63912715 ], "normal_repeats": 27, "pathogenic_repeats": 37, "tags": [ "adult-onset" ], "panel": { "id": 3597, "hash_id": null, "name": "Repeat Disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.", "status": "public", "version": "0.272", "version_created": "2026-01-02T15:16:39.779953+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 76, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian 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": [] } } ] }