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GET /api/v1/entities/?format=api&page=163
{ "count": 36079, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=164", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=162", "results": [ { "gene_data": { "alias": [ "MAP5", "PPP1R102" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6836", "gene_name": "microtubule associated protein 1B", "omim_gene": [ "157129" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 102" ], "gene_symbol": "MAP1B", "hgnc_symbol": "MAP1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:71403061-71505395", "ensembl_id": "ENSG00000131711" } }, "GRch38": { "90": { "location": "5:72107234-72209570", "ensembl_id": "ENSG00000131711" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "MAP1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31317654", "30150678", "30214071" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Brain Malformations Flagship" ], "phenotypes": [ "Intellectual disability", "seizures", "PVNH", "dysmorphic features", "Periventricular nodular heterotopia 9, MIM# 618918" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 18, "hash_id": null, "name": "Polymicrogyria and Schizencephaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.", "status": "public", "version": "0.207", "version_created": "2026-04-23T11:38:11.019015+10:00", "relevant_disorders": [ "Polymicrogyria", "HP:0002126;Schizencephaly", "HP:0010636" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HHG1", "SMMCI", "TPT", "TPTPS", "MCOPCB5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10848", "gene_name": "sonic hedgehog", "omim_gene": [ "600725" ], "alias_name": null, "gene_symbol": "SHH", "hgnc_symbol": "SHH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:155592680-155604967", "ensembl_id": "ENSG00000164690" } }, "GRch38": { "90": { "location": "7:155799986-155812273", "ensembl_id": "ENSG00000164690" } } }, "hgnc_date_symbol_changed": "1995-03-10" }, "entity_type": "gene", "entity_name": "SHH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19533790" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Brain Malformations Flagship" ], "phenotypes": [ "Schizencephaly (MIM#269160)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 18, "hash_id": null, "name": "Polymicrogyria and Schizencephaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.", "status": "public", "version": "0.207", "version_created": "2026-04-23T11:38:11.019015+10:00", "relevant_disorders": [ "Polymicrogyria", "HP:0002126;Schizencephaly", "HP:0010636" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NAK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11584", "gene_name": "TANK binding kinase 1", "omim_gene": [ "604834" ], "alias_name": null, "gene_symbol": "TBK1", "hgnc_symbol": "TBK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:64845660-64895888", "ensembl_id": "ENSG00000183735" } }, "GRch38": { "90": { "location": "12:64451880-64502108", "ensembl_id": "ENSG00000183735" } } }, "hgnc_date_symbol_changed": "2000-06-08" }, "entity_type": "gene", "entity_name": "TBK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301623" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, MIM# 616439" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 24, "hash_id": null, "name": "Early-onset Dementia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.58", "version_created": "2026-03-31T16:43:37.497568+11:00", "relevant_disorders": [ "Cognitive impairment", "HP:0100543" ], "stats": { "number_of_genes": 96, "number_of_strs": 6, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ13096" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25784", "gene_name": "DDB1 and CUL4 associated factor 17", "omim_gene": [ "612515" ], "alias_name": [ "Woodhouse-Sakati syndrome" ], "gene_symbol": "DCAF17", "hgnc_symbol": "DCAF17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:172290727-172341562", "ensembl_id": "ENSG00000115827" } }, "GRch38": { "90": { "location": "2:171434217-171485052", "ensembl_id": "ENSG00000115827" } } }, "hgnc_date_symbol_changed": "2009-07-17" }, "entity_type": "gene", "entity_name": "DCAF17", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.55", "version_created": "2026-04-17T16:01:21.596122+10:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP434C245" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24488", "gene_name": "POC1 centriolar protein A", "omim_gene": [ "614783" ], "alias_name": null, "gene_symbol": "POC1A", "hgnc_symbol": "POC1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:52109269-52188706", "ensembl_id": "ENSG00000164087" } }, "GRch38": { "90": { "location": "3:52075253-52154690", "ensembl_id": "ENSG00000164087" } } }, "hgnc_date_symbol_changed": "2010-03-26" }, "entity_type": "gene", "entity_name": "POC1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31630891", "31630891", "30569574" ], "evidence": [ "Expert Review Green", "Expert list", "Literature" ], "phenotypes": [ "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813" ], "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": "0.249", "version_created": "2026-04-23T20:41:39.653354+10:00", "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": [ "EJM4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1404", "gene_name": "calcium voltage-gated channel auxiliary subunit beta 4", "omim_gene": [ "601949" ], "alias_name": null, "gene_symbol": "CACNB4", "hgnc_symbol": "CACNB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:152689290-152955593", "ensembl_id": "ENSG00000182389" } }, "GRch38": { "90": { "location": "2:151832768-152099475", "ensembl_id": "ENSG00000182389" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "CACNB4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10762541", "9628818", "27003325" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Episodic ataxia, type 5, MIM#613855" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 40, "hash_id": null, "name": "Alternating Hemiplegia and Hemiplegic Migraine", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nPlease also refer to the Episodic Ataxia and Paroxysmal Dyskinesia panels.", "status": "public", "version": "1.0", "version_created": "2026-03-24T16:22:18.980474+11:00", "relevant_disorders": [ "Hemiplegia", "HP:0002301;Migraine", "HP:0002076" ], "stats": { "number_of_genes": 18, "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": [ "FLJ33718", "FLJ39137", "Dok-7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26594", "gene_name": "docking protein 7", "omim_gene": [ "610285" ], "alias_name": null, "gene_symbol": "DOK7", "hgnc_symbol": "DOK7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:3465033-3503200", "ensembl_id": "ENSG00000175920" } }, "GRch38": { "90": { "location": "4:3463311-3494483", "ensembl_id": "ENSG00000175920" } } }, "hgnc_date_symbol_changed": "2006-08-24" }, "entity_type": "gene", "entity_name": "DOK7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19261599", "31880392" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fetal akinesia deformation sequence 3, MIM# 618389", "Myasthenic syndrome, congenital, 10, MIM# 254300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10701", "gene_name": "Sec23 homolog A, coat complex II component", "omim_gene": [ "610511" ], "alias_name": null, "gene_symbol": "SEC23A", "hgnc_symbol": "SEC23A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:39501123-39578850", "ensembl_id": "ENSG00000100934" } }, "GRch38": { "90": { "location": "14:39031919-39109646", "ensembl_id": "ENSG00000100934" } } }, "hgnc_date_symbol_changed": "2000-01-07" }, "entity_type": "gene", "entity_name": "SEC23A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16980979", "21039434", "16980978", "27148587" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Craniolenticulosutural dysplasia (MIM# 607812)" ], "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": "1.86", "version_created": "2026-04-24T16:54:13.705855+10:00", "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": [ "Uae1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23657", "gene_name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase", "omim_gene": [ "603824" ], "alias_name": [ "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase" ], "gene_symbol": "GNE", "hgnc_symbol": "GNE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:36214438-36277053", "ensembl_id": "ENSG00000159921" } }, "GRch38": { "90": { "location": "9:36214441-36277056", "ensembl_id": "ENSG00000159921" } } }, "hgnc_date_symbol_changed": "2003-11-28" }, "entity_type": "gene", "entity_name": "GNE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12177386", "12473753", "32053088", "29923088", "10356312", "11326336", "11486897", "27142465" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nonaka myopathy 605820", "Sialuria MIM#269921", "ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)" ], "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": "1.86", "version_created": "2026-04-24T16:54:13.705855+10:00", "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": [ "FTH", "PLIF", "PIG15", "FHC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3976", "gene_name": "ferritin heavy chain 1", "omim_gene": [ "134770" ], "alias_name": [ "apoferritin", "placenta immunoregulatory factor", "proliferation-inducing protein 15" ], "gene_symbol": "FTH1", "hgnc_symbol": "FTH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:61727190-61735132", "ensembl_id": "ENSG00000167996" } }, "GRch38": { "90": { "location": "11:61959718-61967660", "ensembl_id": "ENSG00000167996" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FTH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "37660254" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodegeneration with brain iron accumulation 9, MIM# 620669" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 72, "hash_id": null, "name": "Cerebellar and Pontocerebellar Hypoplasia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.", "status": "public", "version": "1.100", "version_created": "2026-04-02T11:42:58.167964+11:00", "relevant_disorders": [ "Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879" ], "stats": { "number_of_genes": 122, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MDC4", "PIG-N" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8967", "gene_name": "phosphatidylinositol glycan anchor biosynthesis class N", "omim_gene": [ "606097" ], "alias_name": null, "gene_symbol": "PIGN", "hgnc_symbol": "PIGN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:59710800-59854351", "ensembl_id": "ENSG00000197563" } }, "GRch38": { "90": { "location": "18:61905255-62187118", "ensembl_id": "ENSG00000197563" } } }, "hgnc_date_symbol_changed": "2000-05-11" }, "entity_type": "gene", "entity_name": "PIGN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33528536", "34540776", "38693247" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Multiple congenital anomalies-hypotonia-seizures syndrome 1 (OMIM 614080)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AP2-B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11743", "gene_name": "transcription factor AP-2 beta", "omim_gene": [ "601601" ], "alias_name": null, "gene_symbol": "TFAP2B", "hgnc_symbol": "TFAP2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:50786436-50815326", "ensembl_id": "ENSG00000008196" } }, "GRch38": { "90": { "location": "6:50818723-50847613", "ensembl_id": "ENSG00000008196" } } }, "hgnc_date_symbol_changed": "1995-12-18" }, "entity_type": "gene", "entity_name": "TFAP2B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11505339", "15684060", "18752453", "21643846" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Char syndrome, MIM# 169100", "Patent ductus arteriosus 2, MIM# 617035" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.535", "version_created": "2026-04-21T11:25:32.018166+10:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 254, "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": [ "AIGF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3686", "gene_name": "fibroblast growth factor 8", "omim_gene": [ "600483" ], "alias_name": [ "androgen-induced growth factor" ], "gene_symbol": "FGF8", "hgnc_symbol": "FGF8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:103529899-103535854", "ensembl_id": "ENSG00000107831" } }, "GRch38": { "90": { "location": "10:101770130-101780369", "ensembl_id": "ENSG00000107831" } } }, "hgnc_date_symbol_changed": "1995-08-15" }, "entity_type": "gene", "entity_name": "FGF8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20463092", "18596921", "24280688", "31748124" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.52", "version_created": "2026-04-23T10:59:57.828482+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LZTR-1", "BTBD29" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6742", "gene_name": "leucine zipper like transcription regulator 1", "omim_gene": [ "600574" ], "alias_name": null, "gene_symbol": "LZTR1", "hgnc_symbol": "LZTR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:21333751-21353327", "ensembl_id": "ENSG00000099949" } }, "GRch38": { "90": { "location": "22:20979462-20999038", "ensembl_id": "ENSG00000099949" } } }, "hgnc_date_symbol_changed": "1999-10-19" }, "entity_type": "gene", "entity_name": "LZTR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "25795793", "29469822", "30368668", "30481304", "24362817" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Noonan syndrome 10", "Noonan syndrome 2", "{Schwannomatosis-2, susceptibility to}" ], "mode_of_inheritance": "BOTH monoallelic and 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": [ "CRG-L2", "CLOM", "colmedin", "UNC-112" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29514", "gene_name": "gliomedin", "omim_gene": [ "608603" ], "alias_name": null, "gene_symbol": "GLDN", "hgnc_symbol": "GLDN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:51633826-51700210", "ensembl_id": "ENSG00000186417" } }, "GRch38": { "90": { "location": "15:51341629-51408013", "ensembl_id": "ENSG00000186417" } } }, "hgnc_date_symbol_changed": "2005-10-06" }, "entity_type": "gene", "entity_name": "GLDN", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34132406" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Lethal congenital contracture syndrome 11, MIM# 617194" ], "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": [ "FGE", "UNQ3037" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20376", "gene_name": "sulfatase modifying factor 1", "omim_gene": [ "607939" ], "alias_name": null, "gene_symbol": "SUMF1", "hgnc_symbol": "SUMF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:3742498-4508965", "ensembl_id": "ENSG00000144455" } }, "GRch38": { "90": { "location": "3:3700814-4467281", "ensembl_id": "ENSG00000144455" } } }, "hgnc_date_symbol_changed": "2004-04-30" }, "entity_type": "gene", "entity_name": "SUMF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30124108", "28566233", "25222778", "24339620" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Multiple sulfatase deficiency MIM#272200", "neurologic deterioration with mental retardation", "skeletal anomalies", "organomegaly", "ichthyosis" ], "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": [] }, { "gene_data": { "alias": [ "OFIP", "MNR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29110", "gene_name": "KIAA0753", "omim_gene": [ "617112" ], "alias_name": [ "moonraker", "OFD1 and FOPNL interacting protein" ], "gene_symbol": "KIAA0753", "hgnc_symbol": "KIAA0753", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:6481468-6544247", "ensembl_id": "ENSG00000198920" } }, "GRch38": { "90": { "location": "17:6578148-6640927", "ensembl_id": "ENSG00000198920" } } }, "hgnc_date_symbol_changed": "2005-12-13" }, "entity_type": "gene", "entity_name": "KIAA0753", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 31816441", "28220259", "29138412", "26643951" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "?Orofaciodigital syndrome XV\t617127", "Joubert syndrome 38, MIM#\t619476" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 129, "hash_id": null, "name": "Joubert syndrome and other neurological ciliopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.", "status": "public", "version": "1.33", "version_created": "2025-12-16T12:55:34.757878+11:00", "relevant_disorders": [ "Molar tooth sign on MRI", "HP:0002419; Joubert syndrome", "MONDO:0018772" ], "stats": { "number_of_genes": 69, "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": [ "TIRC7", "OC-116", "OC116", "ATP6N1C", "Atp6i", "a3", "ATP6V0A3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11647", "gene_name": "T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3", "omim_gene": [ "604592" ], "alias_name": [ "T-cell immune response cDNA 7" ], "gene_symbol": "TCIRG1", "hgnc_symbol": "TCIRG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:67806483-67818362", "ensembl_id": "ENSG00000110719" } }, "GRch38": { "90": { "location": "11:68039016-68050895", "ensembl_id": "ENSG00000110719" } } }, "hgnc_date_symbol_changed": "1999-02-15" }, "entity_type": "gene", "entity_name": "TCIRG1", "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": [ "ADE2H1", "AIRC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8587", "gene_name": "phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase", "omim_gene": [ "172439" ], "alias_name": null, "gene_symbol": "PAICS", "hgnc_symbol": "PAICS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:57301907-57327534", "ensembl_id": "ENSG00000128050" } }, "GRch38": { "90": { "location": "4:56435741-56464579", "ensembl_id": "ENSG00000128050" } } }, "hgnc_date_symbol_changed": "1991-03-11" }, "entity_type": "gene", "entity_name": "PAICS", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31600779" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "PAICS deficiency MONDO:0859003" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PTP1E", "PTP-BAS", "PTPL1", "PTP-BL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9646", "gene_name": "protein tyrosine phosphatase, non-receptor type 13", "omim_gene": [ "600267" ], "alias_name": [ "APO-1/CD95 (Fas)-associated phosphatase" ], "gene_symbol": "PTPN13", "hgnc_symbol": "PTPN13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:87515468-87736324", "ensembl_id": "ENSG00000163629" } }, "GRch38": { "90": { "location": "4:86594315-86815171", "ensembl_id": "ENSG00000163629" } } }, "hgnc_date_symbol_changed": "1995-02-17" }, "entity_type": "gene", "entity_name": "PTPN13", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35643866" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "bone marrow failure syndrome MONDO#0000159, PTPN13-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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:13666", "gene_name": "aladin WD repeat nucleoporin", "omim_gene": [ "605378" ], "alias_name": [ "aladin", "Allgrove, triple-A", "adracalin" ], "gene_symbol": "AAAS", "hgnc_symbol": "AAAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:53701240-53718648", "ensembl_id": "ENSG00000094914" } }, "GRch38": { "90": { "location": "12:53307456-53324864", "ensembl_id": "ENSG00000094914" } } }, "hgnc_date_symbol_changed": "2000-11-08" }, "entity_type": "gene", "entity_name": "AAAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Achalasia-addisonianism-alacrimia syndrome, MIM#231550" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SKR1", "ALK2", "ACVR1A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:171", "gene_name": "activin A receptor type 1", "omim_gene": [ "102576" ], "alias_name": null, "gene_symbol": "ACVR1", "hgnc_symbol": "ACVR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:158592958-158732374", "ensembl_id": "ENSG00000115170" } }, "GRch38": { "90": { "location": "2:157736444-157875862", "ensembl_id": "ENSG00000115170" } } }, "hgnc_date_symbol_changed": "1994-01-10" }, "entity_type": "gene", "entity_name": "ACVR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16642017", "29089047" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fibrodysplasia ossificans progressiva, MIM# 135100", "Congenital heart disease" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "clinical trial" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CRT2", "FLJ25355", "MGC26577", "CT93" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20407", "gene_name": "calreticulin 3", "omim_gene": [ "611414" ], "alias_name": [ "cancer/testis antigen 93", "calsperin" ], "gene_symbol": "CALR3", "hgnc_symbol": "CALR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:16589868-16607003", "ensembl_id": "ENSG00000269058" } }, "GRch38": { "90": { "location": "19:16479057-16496192", "ensembl_id": "ENSG00000269058" } } }, "hgnc_date_symbol_changed": "2003-02-04" }, "entity_type": "gene", "entity_name": "CALR3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29988065" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypertrophic cardiomyopathy, MONDO:0005045" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hRrp46p", "Rrp46p", "RRP46", "RRP41B", "MGC12901", "p12B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24662", "gene_name": "exosome component 5", "omim_gene": [ "606492" ], "alias_name": [ "exosome component Rrp46" ], "gene_symbol": "EXOSC5", "hgnc_symbol": "EXOSC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:41892279-41903384", "ensembl_id": "ENSG00000077348" } }, "GRch38": { "90": { "location": "19:41386374-41397479", "ensembl_id": "ENSG00000077348" } } }, "hgnc_date_symbol_changed": "2004-03-26" }, "entity_type": "gene", "entity_name": "EXOSC5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32504085", "29302074" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576", "Short stature", "Motor developmental delays", "Cerebellar hypoplasia", "Ataxia" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3629", "gene_name": "farnesyl-diphosphate farnesyltransferase 1", "omim_gene": [ "184420" ], "alias_name": [ "squalene synthase" ], "gene_symbol": "FDFT1", "hgnc_symbol": "FDFT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:11653082-11696818", "ensembl_id": "ENSG00000079459" } }, "GRch38": { "90": { "location": "8:11795573-11839309", "ensembl_id": "ENSG00000079459" } } }, "hgnc_date_symbol_changed": "1993-07-26" }, "entity_type": "gene", "entity_name": "FDFT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29909962", "38653249" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "squalene synthase deficiency MONDO:0032566", "porokeratosis MONDO:0006602, FDFT1-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BLOC2S2", "AIBP63", "RU2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17022", "gene_name": "HPS5, biogenesis of lysosomal organelles complex 2 subunit 2", "omim_gene": [ "607521" ], "alias_name": [ "alpha-integrin-binding protein 63", "Ruby-eye protein 2 homolog" ], "gene_symbol": "HPS5", "hgnc_symbol": "HPS5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:18300223-18343745", "ensembl_id": "ENSG00000110756" } }, "GRch38": { "90": { "location": "11:18278668-18322198", "ensembl_id": "ENSG00000110756" } } }, "hgnc_date_symbol_changed": "2002-06-13" }, "entity_type": "gene", "entity_name": "HPS5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28296950", "32725903" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hermansky-Pudlak syndrome 5 (MIM#614074)" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ACTHR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6930", "gene_name": "melanocortin 2 receptor", "omim_gene": [ "607397" ], "alias_name": [ "adrenocorticotropic hormone receptor" ], "gene_symbol": "MC2R", "hgnc_symbol": "MC2R", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:13882043-13915706", "ensembl_id": "ENSG00000185231" } }, "GRch38": { "90": { "location": "18:13882044-13915707", "ensembl_id": "ENSG00000185231" } } }, "hgnc_date_symbol_changed": "1993-07-20" }, "entity_type": "gene", "entity_name": "MC2R", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8094489", "8227361" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8623", "gene_name": "paired box 9", "omim_gene": [ "167416" ], "alias_name": null, "gene_symbol": "PAX9", "hgnc_symbol": "PAX9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:37126773-37148920", "ensembl_id": "ENSG00000198807" } }, "GRch38": { "90": { "location": "14:36657568-36679715", "ensembl_id": "ENSG00000198807" } } }, "hgnc_date_symbol_changed": "1993-06-07" }, "entity_type": "gene", "entity_name": "PAX9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10615120", "16479262" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Tooth agenesis, selective, 3 - MIM#604625" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PFP", "P1", "HPLH2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9360", "gene_name": "perforin 1", "omim_gene": [ "170280" ], "alias_name": [ "Perforin", "perforin 1 (preforming protein)" ], "gene_symbol": "PRF1", "hgnc_symbol": "PRF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:72357104-72362531", "ensembl_id": "ENSG00000180644" } }, "GRch38": { "90": { "location": "10:70597348-70602775", "ensembl_id": "ENSG00000180644" } } }, "hgnc_date_symbol_changed": "1989-02-23" }, "entity_type": "gene", "entity_name": "PRF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19487666" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Aplastic anemia 609135", "Hemophagocytic lymphohistiocytosis, familial, 2 603553", "Lymphoma, non-Hodgkin 605027" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MTMR5", "DENND7A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10542", "gene_name": "SET binding factor 1", "omim_gene": [ "603560" ], "alias_name": [ "myotubularin related 5", "DENN/MADD domain containing 7A" ], "gene_symbol": "SBF1", "hgnc_symbol": "SBF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50883429-50913454", "ensembl_id": "ENSG00000100241" } }, "GRch38": { "90": { "location": "22:50445000-50475024", "ensembl_id": "ENSG00000100241" } } }, "hgnc_date_symbol_changed": "1998-07-28" }, "entity_type": "gene", "entity_name": "SBF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23749797", "23749797", "32444983", "30039846", "28005197" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Charcot-Marie-Tooth disease, type 4B3 , MIM#615284", "MONDO:0014117" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16035", "gene_name": "stereocilin", "omim_gene": [ "606440" ], "alias_name": null, "gene_symbol": "STRC", "hgnc_symbol": "STRC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:43891596-44010458", "ensembl_id": "ENSG00000242866" } }, "GRch38": { "90": { "location": "15:43599398-43618800", "ensembl_id": "ENSG00000242866" } } }, "hgnc_date_symbol_changed": "2001-10-03" }, "entity_type": "gene", "entity_name": "STRC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11687802", "26011646", "26746617", "20301780" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Deafness, autosomal recessive 16, MIM# 603720" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:24316", "gene_name": "translational activator of cytochrome c oxidase I", "omim_gene": [ "612958" ], "alias_name": null, "gene_symbol": "TACO1", "hgnc_symbol": "TACO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:61678231-61685725", "ensembl_id": "ENSG00000136463" } }, "GRch38": { "90": { "location": "17:63600872-63608365", "ensembl_id": "ENSG00000136463" } } }, "hgnc_date_symbol_changed": "2009-06-26" }, "entity_type": "gene", "entity_name": "TACO1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19503089", "20727754", "25044680", "27319982" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10477", "4833431A01Rik" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20856", "gene_name": "THAP domain containing 1", "omim_gene": [ "609520" ], "alias_name": null, "gene_symbol": "THAP1", "hgnc_symbol": "THAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:42691817-42698468", "ensembl_id": "ENSG00000131931" } }, "GRch38": { "90": { "location": "8:42836674-42843325", "ensembl_id": "ENSG00000131931" } } }, "hgnc_date_symbol_changed": "2003-07-21" }, "entity_type": "gene", "entity_name": "THAP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21793105", "22377579", "36205328", "21425335", "20211909" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dystonia 6, torsion, 602629", "MONDO:0011264" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TACI", "CD267", "IGAD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18153", "gene_name": "TNF receptor superfamily member 13B", "omim_gene": [ "604907" ], "alias_name": null, "gene_symbol": "TNFRSF13B", "hgnc_symbol": "TNFRSF13B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:16832849-16875432", "ensembl_id": "ENSG00000240505" } }, "GRch38": { "90": { "location": "17:16929816-16972118", "ensembl_id": "ENSG00000240505" } } }, "hgnc_date_symbol_changed": "2002-05-22" }, "entity_type": "gene", "entity_name": "TNFRSF13B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17392798", "16007086", "18981294", "16007087" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency, common variable, 2, MIM# 240500" ], "mode_of_inheritance": "Other", "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HUG-BR2", "UGT1D" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12536", "gene_name": "UDP glucuronosyltransferase family 1 member A4", "omim_gene": [ "606429" ], "alias_name": null, "gene_symbol": "UGT1A4", "hgnc_symbol": "UGT1A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:234627424-234681945", "ensembl_id": "ENSG00000244474" } }, "GRch38": { "90": { "location": "2:233718778-233773299", "ensembl_id": "ENSG00000244474" } } }, "hgnc_date_symbol_changed": "2000-06-22" }, "entity_type": "gene", "entity_name": "UGT1A4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RIS1", "RIP1", "UQCR5", "RISP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12587", "gene_name": "ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1", "omim_gene": [ "191327" ], "alias_name": [ "cytochrome b-c1 complex subunit 5" ], "gene_symbol": "UQCRFS1", "hgnc_symbol": "UQCRFS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:29698173-29704448", "ensembl_id": "ENSG00000169021" } }, "GRch38": { "90": { "location": "19:29205321-29213541", "ensembl_id": "ENSG00000169021" } } }, "hgnc_date_symbol_changed": "1993-09-20" }, "entity_type": "gene", "entity_name": "UQCRFS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31883641" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial Complex III deficiency", "lactic acidosis", "fetal bradycardia", "hypertrophic cardiomyopathy", "alopecia totalis" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ZFM1", "ZCCHC25" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12950", "gene_name": "splicing factor 1", "omim_gene": [ "601516" ], "alias_name": null, "gene_symbol": "SF1", "hgnc_symbol": "SF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64532078-64546258", "ensembl_id": "ENSG00000168066" } }, "GRch38": { "90": { "location": "11:64764606-64778786", "ensembl_id": "ENSG00000168066" } } }, "hgnc_date_symbol_changed": "2002-01-11" }, "entity_type": "gene", "entity_name": "SF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40987292" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SF1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Pat1a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:33630", "gene_name": "PAT1 homolog 2", "omim_gene": [ "614661" ], "alias_name": null, "gene_symbol": "PATL2", "hgnc_symbol": "PATL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:44957930-45003514", "ensembl_id": "ENSG00000229474" } }, "GRch38": { "90": { "location": "15:44665732-44711316", "ensembl_id": "ENSG00000229474" } } }, "hgnc_date_symbol_changed": "2007-10-18" }, "entity_type": "gene", "entity_name": "PATL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28965844", "28965849", "32048119", "30765866" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Oocyte maturation defect 4, MIM# 617743" ], "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": "1.4796", "version_created": "2026-04-26T17:41:46.661582+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6074", "gene_name": "inositol polyphosphate-4-phosphatase type I A", "omim_gene": [ "600916" ], "alias_name": null, "gene_symbol": "INPP4A", "hgnc_symbol": "INPP4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:99061317-99210853", "ensembl_id": "ENSG00000040933" } }, "GRch38": { "90": { "location": "2:98444854-98594390", "ensembl_id": "ENSG00000040933" } } }, "hgnc_date_symbol_changed": "1993-10-14" }, "entity_type": "gene", "entity_name": "INPP4A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39315527" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.428", "version_created": "2026-04-26T12:52:13.066925+10:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDC8", "TYMK", "TMPK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3061", "gene_name": "deoxythymidylate kinase", "omim_gene": [ "188345" ], "alias_name": [ "dTMP kinase", "thymidylate (dTMP) kinase" ], "gene_symbol": "DTYMK", "hgnc_symbol": "DTYMK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:242615157-242626406", "ensembl_id": "ENSG00000168393" } }, "GRch38": { "90": { "location": "2:241675742-241686991", "ensembl_id": "ENSG00000168393" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "DTYMK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34918187", "31271740" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.428", "version_created": "2026-04-26T12:52:13.066925+10:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GS27", "Bos1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4431", "gene_name": "golgi SNAP receptor complex member 2", "omim_gene": [ "604027" ], "alias_name": null, "gene_symbol": "GOSR2", "hgnc_symbol": "GOSR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:45000483-45105003", "ensembl_id": "ENSG00000108433" } }, "GRch38": { "90": { "location": "17:46923075-46975524", "ensembl_id": "ENSG00000108433" } } }, "hgnc_date_symbol_changed": "1999-04-23" }, "entity_type": "gene", "entity_name": "GOSR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30363482", "29855340" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Muscular dystrophy, congenital, with or without seizures, MIM# 620166" ], "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": [ "MRJ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14888", "gene_name": "DnaJ heat shock protein family (Hsp40) member B6", "omim_gene": [ "611332" ], "alias_name": null, "gene_symbol": "DNAJB6", "hgnc_symbol": "DNAJB6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:157128075-157210133", "ensembl_id": "ENSG00000105993" } }, "GRch38": { "90": { "location": "7:157335381-157417439", "ensembl_id": "ENSG00000105993" } } }, "hgnc_date_symbol_changed": "2001-03-09" }, "entity_type": "gene", "entity_name": "DNAJB6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "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": [ "FLJ22349" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26185", "gene_name": "coiled-coil domain containing 134", "omim_gene": null, "alias_name": null, "gene_symbol": "CCDC134", "hgnc_symbol": "CCDC134", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:42196683-42222303", "ensembl_id": "ENSG00000100147" } }, "GRch38": { "90": { "location": "22:41800679-41826299", "ensembl_id": "ENSG00000100147" } } }, "hgnc_date_symbol_changed": "2006-10-17" }, "entity_type": "gene", "entity_name": "CCDC134", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32181939", "34204301", "35019224" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Osteogenesis imperfecta, type XXII, MIM#619795" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 147, "hash_id": null, "name": "Osteogenesis Imperfecta and Osteoporosis", "disease_group": "Skeletal disorders; Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.18", "version_created": "2026-02-22T14:59:29.563350+11:00", "relevant_disorders": [ "Increased susceptibility to fractures", "HP:0002659" ], "stats": { "number_of_genes": 48, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ32915" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26558", "gene_name": "HYLS1, centriolar and ciliogenesis associated", "omim_gene": [ "610693" ], "alias_name": null, "gene_symbol": "HYLS1", "hgnc_symbol": "HYLS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:125753509-125770543", "ensembl_id": "ENSG00000198331" } }, "GRch38": { "90": { "location": "11:125883614-125900648", "ensembl_id": "ENSG00000198331" } } }, "hgnc_date_symbol_changed": "2005-05-04" }, "entity_type": "gene", "entity_name": "HYLS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15843405", "18648327", "19400947", "19656802", "32509774", "26830932" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hydrolethalus syndrome (MIM#236680)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "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": "0.303", "version_created": "2026-04-23T20:20:44.540776+10:00", "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": [ "NSAP1", "GRY-RBP", "dJ3J17.2", "HNRPQ1", "hnRNP-Q", "HNRNPQ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16918", "gene_name": "synaptotagmin binding cytoplasmic RNA interacting protein", "omim_gene": [ "616686" ], "alias_name": [ "heterogeneous nuclear ribonucleoprotein Q" ], "gene_symbol": "SYNCRIP", "hgnc_symbol": "SYNCRIP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:86318053-86353510", "ensembl_id": "ENSG00000135316" } }, "GRch38": { "90": { "location": "6:85607785-85643792", "ensembl_id": "ENSG00000135316" } } }, "hgnc_date_symbol_changed": "2003-11-27" }, "entity_type": "gene", "entity_name": "SYNCRIP", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34157790", "30504930", "27479843", "23020937" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related", "Global developmental delay", "Intellectual disability", "Autism", "Myoclonic atonic seizures", "Abnormality of nervous system morphology" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "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": [ "beta-4", "CFEOM3", "CFEOM3A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20772", "gene_name": "tubulin beta 3 class III", "omim_gene": [ "602661" ], "alias_name": [ "class III beta-tubulin" ], "gene_symbol": "TUBB3", "hgnc_symbol": "TUBB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:89987800-90005169", "ensembl_id": "ENSG00000258947" } }, "GRch38": { "90": { "location": "16:89921392-89938761", "ensembl_id": "ENSG00000258947" } } }, "hgnc_date_symbol_changed": "2004-11-22" }, "entity_type": "gene", "entity_name": "TUBB3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20829227", "25059107", "33318778" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039" ], "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": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "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": [ "FLJ20277", "MGAT1.2", "LGMD2O" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19139", "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)", "omim_gene": [ "606822" ], "alias_name": [ "protein O-mannose beta-1,2-N-acetylglucosaminyltransferase" ], "gene_symbol": "POMGNT1", "hgnc_symbol": "POMGNT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:46654354-46685977", "ensembl_id": "ENSG00000085998" } }, "GRch38": { "90": { "location": "1:46188682-46220305", "ensembl_id": "ENSG00000085998" } } }, "hgnc_date_symbol_changed": "2005-06-02" }, "entity_type": "gene", "entity_name": "POMGNT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27391550", "26908613", "30961548", "30937090" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830" ], "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": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "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": [ "TFAR15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8761", "gene_name": "programmed cell death 10", "omim_gene": [ "609118" ], "alias_name": null, "gene_symbol": "PDCD10", "hgnc_symbol": "PDCD10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:167401086-167452727", "ensembl_id": "ENSG00000114209" } }, "GRch38": { "90": { "location": "3:167683298-167734939", "ensembl_id": "ENSG00000114209" } } }, "hgnc_date_symbol_changed": "1999-12-10" }, "entity_type": "gene", "entity_name": "PDCD10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25354366", "26246098" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cerebral cavernous malformations-3 MIM#603285" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "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": [ "trnP" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7494", "gene_name": "mitochondrially encoded tRNA proline", "omim_gene": [ "590075" ], "alias_name": null, "gene_symbol": "MT-TP", "hgnc_symbol": "MT-TP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:15956-16023", "ensembl_id": "ENSG00000210196" } }, "GRch38": { "90": { "location": "MT:15956-16023", "ensembl_id": "ENSG00000210196" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "7689388", "11196116", "19223931", "23696415", "19273760", "27536729", "27816331", "32305257", "32419253" ], "evidence": [ "Expert Review Red", "Expert Review Green", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TP-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "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": [] }, { "gene_data": { "alias": [ "CAT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2342", "gene_name": "carnitine O-acetyltransferase", "omim_gene": [ "600184" ], "alias_name": null, "gene_symbol": "CRAT", "hgnc_symbol": "CRAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131857089-131873468", "ensembl_id": "ENSG00000095321" } }, "GRch38": { "90": { "location": "9:129094810-129111189", "ensembl_id": "ENSG00000095321" } } }, "hgnc_date_symbol_changed": "1994-07-04" }, "entity_type": "gene", "entity_name": "CRAT", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29395073", "31448845" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodegeneration with brain iron accumulation 8, MIM#\t617917", "Leigh syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZP434K046" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25302", "gene_name": "coenzyme Q9", "omim_gene": [ "612837" ], "alias_name": null, "gene_symbol": "COQ9", "hgnc_symbol": "COQ9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:57481337-57495187", "ensembl_id": "ENSG00000088682" } }, "GRch38": { "90": { "location": "16:57447425-57461275", "ensembl_id": "ENSG00000088682" } } }, "hgnc_date_symbol_changed": "2006-01-13" }, "entity_type": "gene", "entity_name": "COQ9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p35-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11439", "gene_name": "syntaxin 4", "omim_gene": [ "186591" ], "alias_name": null, "gene_symbol": "STX4", "hgnc_symbol": "STX4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:31044210-31054296", "ensembl_id": "ENSG00000103496" } }, "GRch38": { "90": { "location": "16:31032889-31042975", "ensembl_id": "ENSG00000103496" } } }, "hgnc_date_symbol_changed": "2006-04-25" }, "entity_type": "gene", "entity_name": "STX4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36355422", "35599850" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Deafness, autosomal recessive 123, MIM# 620745" ], "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": [ "DFNB102" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13517", "gene_name": "chloride intracellular channel 5", "omim_gene": [ "607293" ], "alias_name": null, "gene_symbol": "CLIC5", "hgnc_symbol": "CLIC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:45868045-46048132", "ensembl_id": "ENSG00000112782" } }, "GRch38": { "90": { "location": "6:45898451-46080395", "ensembl_id": "ENSG00000112782" } } }, "hgnc_date_symbol_changed": "2000-10-31" }, "entity_type": "gene", "entity_name": "CLIC5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24781754", "17021174" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autosomal recessive nonsyndromic hearing loss 103, MONDO:0014469" ], "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": null }, { "gene_data": { "alias": [ "E2A", "ITF1", "MGC129647", "MGC129648", "bHLHb21", "VDIR", "E47" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11633", "gene_name": "transcription factor 3", "omim_gene": [ "147141" ], "alias_name": [ "transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor" ], "gene_symbol": "TCF3", "hgnc_symbol": "TCF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:1609291-1652604", "ensembl_id": "ENSG00000071564" } }, "GRch38": { "90": { "location": "19:1609290-1652605", "ensembl_id": "ENSG00000071564" } } }, "hgnc_date_symbol_changed": "1990-07-26" }, "entity_type": "gene", "entity_name": "TCF3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24216514", "28532655", "30063982", "8001124", "8001125" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Agammaglobulinaemia 8, autosomal dominant, MIM# 616941", "Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 222, "hash_id": null, "name": "Predominantly Antibody Deficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.4", "version_created": "2025-09-11T18:11:50.640122+10:00", "relevant_disorders": [ "Decreased immunoglobulin level", "HP:0041078" ], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LFA-1", "MAC-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6155", "gene_name": "integrin subunit beta 2", "omim_gene": [ "600065" ], "alias_name": [ "complement component 3 receptor 3 and 4 subunit" ], "gene_symbol": "ITGB2", "hgnc_symbol": "ITGB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:46305868-46351904", "ensembl_id": "ENSG00000160255" } }, "GRch38": { "90": { "location": "21:44885953-44931989", "ensembl_id": "ENSG00000160255" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ITGB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "1968911", "1694220", "33957747", "32279896", "31374327" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Leukocyte adhesion deficiency, MIM# 116920" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 233, "hash_id": null, "name": "Phagocyte Defects", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications. \r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).", "status": "public", "version": "1.45", "version_created": "2025-12-15T10:26:57.519304+11:00", "relevant_disorders": [ "Unusual infection", "HP:0032101" ], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11300", "gene_name": "signal recognition particle 19", "omim_gene": [ "182175" ], "alias_name": null, "gene_symbol": "SRP19", "hgnc_symbol": "SRP19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:112196919-112205485", "ensembl_id": "ENSG00000153037" } }, "GRch38": { "90": { "location": "5:112861222-112869788", "ensembl_id": "ENSG00000153037" } } }, "hgnc_date_symbol_changed": "1991-12-05" }, "entity_type": "gene", "entity_name": "SRP19", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 36223592" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neutropenia, MONDO:0001475, SRP19-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 233, "hash_id": null, "name": "Phagocyte Defects", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications. \r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).", "status": "public", "version": "1.45", "version_created": "2025-12-15T10:26:57.519304+11:00", "relevant_disorders": [ "Unusual infection", "HP:0032101" ], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PiT-2", "Glvr-2", "Ram-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10947", "gene_name": "solute carrier family 20 member 2", "omim_gene": [ "158378" ], "alias_name": null, "gene_symbol": "SLC20A2", "hgnc_symbol": "SLC20A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:42273993-42397069", "ensembl_id": "ENSG00000168575" } }, "GRch38": { "90": { "location": "8:42416475-42541926", "ensembl_id": "ENSG00000168575" } } }, "hgnc_date_symbol_changed": "1993-06-18" }, "entity_type": "gene", "entity_name": "SLC20A2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "41458256", "35881308" ], "evidence": [ "Expert Review Amber", "Genetic Health Queensland" ], "phenotypes": [ "Basal ganglia calcification, idiopathic, 1, MIM#213600" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "FLJ20371", "MFSD7C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20105", "gene_name": "feline leukemia virus subgroup C cellular receptor family member 2", "omim_gene": [ "610865" ], "alias_name": null, "gene_symbol": "FLVCR2", "hgnc_symbol": "FLVCR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:76044960-76129557", "ensembl_id": "ENSG00000119686" } }, "GRch38": { "90": { "location": "14:75578617-75663214", "ensembl_id": "ENSG00000119686" } } }, "hgnc_date_symbol_changed": "2007-05-01" }, "entity_type": "gene", "entity_name": "FLVCR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30712878", "20206334", "20518025", "20690116", "25677735" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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:12997", "gene_name": "zinc finger and SCAN domain containing 10", "omim_gene": null, "alias_name": null, "gene_symbol": "ZSCAN10", "hgnc_symbol": "ZSCAN10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:3138891-3149318", "ensembl_id": "ENSG00000130182" } }, "GRch38": { "90": { "location": "16:3088890-3099317", "ensembl_id": "ENSG00000130182" } } }, "hgnc_date_symbol_changed": "2007-02-20" }, "entity_type": "gene", "entity_name": "ZSCAN10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38386308" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Syndromic disease MONDO:0002254" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "COD2", "KIAA1134" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18621", "gene_name": "component of oligomeric golgi complex 6", "omim_gene": [ "606977" ], "alias_name": null, "gene_symbol": "COG6", "hgnc_symbol": "COG6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:40229764-40365802", "ensembl_id": "ENSG00000133103" } }, "GRch38": { "90": { "location": "13:39655627-39791665", "ensembl_id": "ENSG00000133103" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "COG6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Congenital disorder of glycosylation, type Iil, MIM#614576" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "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", "Genetic Health Queensland" ], "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": 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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "Miner1", "ERIS", "NAF-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24212", "gene_name": "CDGSH iron sulfur domain 2", "omim_gene": [ "611507" ], "alias_name": [ "mitoNEET related 1", "endoplasmic reticulum intermembrane small protein", "nutrient-deprivation autophagy factor-1" ], "gene_symbol": "CISD2", "hgnc_symbol": "CISD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:103790135-103810399", "ensembl_id": "ENSG00000145354" } }, "GRch38": { "90": { "location": "4:102868978-102889242", "ensembl_id": "ENSG00000145354" } } }, "hgnc_date_symbol_changed": "2007-08-10" }, "entity_type": "gene", "entity_name": "CISD2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Wolfram syndrome 2, MIM#604928" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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:11605", "gene_name": "T-box 6", "omim_gene": [ "602427" ], "alias_name": null, "gene_symbol": "TBX6", "hgnc_symbol": "TBX6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:30097114-30103208", "ensembl_id": "ENSG00000149922" } }, "GRch38": { "90": { "location": "16:30085793-30091887", "ensembl_id": "ENSG00000149922" } } }, "hgnc_date_symbol_changed": "1998-08-10" }, "entity_type": "gene", "entity_name": "TBX6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33058178", "31015262", "30636772", "28054739", "23335591", "30307510" ], "evidence": [ "Expert Review Green", "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Spondylocostal dysostosis 5\t122600" ], "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": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "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": [ "GluD2", "GluR-delta-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4576", "gene_name": "glutamate ionotropic receptor delta type subunit 2", "omim_gene": [ "602368" ], "alias_name": null, "gene_symbol": "GRID2", "hgnc_symbol": "GRID2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:93225550-94695707", "ensembl_id": "ENSG00000152208" } }, "GRch38": { "90": { "location": "4:92303622-93810157", "ensembl_id": "ENSG00000152208" } } }, "hgnc_date_symbol_changed": "1997-10-21" }, "entity_type": "gene", "entity_name": "GRID2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 18, 616204" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "trnY" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7502", "gene_name": "mitochondrially encoded tRNA tyrosine", "omim_gene": [ "590100" ], "alias_name": null, "gene_symbol": "MT-TY", "hgnc_symbol": "MT-TY", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:5826-5891", "ensembl_id": "ENSG00000210144" } }, "GRch38": { "90": { "location": "MT:5826-5891", "ensembl_id": "ENSG00000210144" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TY", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11071502", "11756614", "11594340", "33279411", "30643656", "32684384", "32485333", "33279411" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TY-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SemB", "FLJ12287", "CORD10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10729", "gene_name": "semaphorin 4A", "omim_gene": [ "607292" ], "alias_name": null, "gene_symbol": "SEMA4A", "hgnc_symbol": "SEMA4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156117157-156147543", "ensembl_id": "ENSG00000196189" } }, "GRch38": { "90": { "location": "1:156147366-156177752", "ensembl_id": "ENSG00000196189" } } }, "hgnc_date_symbol_changed": "2004-04-22" }, "entity_type": "gene", "entity_name": "SEMA4A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16199541", "28805479", "23360997", "15277503" ], "evidence": [ "Expert Review Amber", "Royal Melbourne Hospital" ], "phenotypes": [ "Cone-rod dystrophy 10, 610283", "Retinitis pigmentosa 35, 610282" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LRBP", "MK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7530", "gene_name": "mevalonate kinase", "omim_gene": [ "251170" ], "alias_name": [ "LH receptor mRNA-binding protein", "mevalonic aciduria" ], "gene_symbol": "MVK", "hgnc_symbol": "MVK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:110011060-110035067", "ensembl_id": "ENSG00000110921" } }, "GRch38": { "90": { "location": "12:109573255-109598117", "ensembl_id": "ENSG00000110921" } } }, "hgnc_date_symbol_changed": "1992-10-06" }, "entity_type": "gene", "entity_name": "MVK", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Royal Melbourne Hospital" ], "phenotypes": [ "Mevalonic aciduria", "Hyper-IgD syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10305", "ArPIKfyve" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25507", "gene_name": "Vac14, PIKFYVE complex component", "omim_gene": [ "604632" ], "alias_name": null, "gene_symbol": "VAC14", "hgnc_symbol": "VAC14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:70721342-70835064", "ensembl_id": "ENSG00000103043" } }, "GRch38": { "90": { "location": "16:70687439-70801161", "ensembl_id": "ENSG00000103043" } } }, "hgnc_date_symbol_changed": "2005-02-09" }, "entity_type": "gene", "entity_name": "VAC14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Striatonigral degeneration, childhood-onset 617054" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": null }, { "gene_data": { "alias": [ "LP3298", "FLJ10769" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25576", "gene_name": "NAD(P)HX dehydratase", "omim_gene": [ "615910" ], "alias_name": [ "ATP-dependent NAD(P)H-hydrate dehydratase" ], "gene_symbol": "NAXD", "hgnc_symbol": "NAXD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:111267881-111292340", "ensembl_id": "ENSG00000213995" } }, "GRch38": { "90": { "location": "13:110615460-110639993", "ensembl_id": "ENSG00000213995" } } }, "hgnc_date_symbol_changed": "2016-03-09" }, "entity_type": "gene", "entity_name": "NAXD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30576410", "31755961", "32462209" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12828", "gene_name": "X-ray repair cross complementing 1", "omim_gene": [ "194360" ], "alias_name": null, "gene_symbol": "XRCC1", "hgnc_symbol": "XRCC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:44047192-44084625", "ensembl_id": "ENSG00000073050" } }, "GRch38": { "90": { "location": "19:43543040-43580473", "ensembl_id": "ENSG00000073050" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "XRCC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28002403", "29472272" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 26 MIM#617633" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:15508", "gene_name": "pseudouridylate synthase 1", "omim_gene": [ "608109" ], "alias_name": [ "tRNA pseudouridine(38-40) synthase" ], "gene_symbol": "PUS1", "hgnc_symbol": "PUS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:132413745-132428406", "ensembl_id": "ENSG00000177192" } }, "GRch38": { "90": { "location": "12:131929200-131945896", "ensembl_id": "ENSG00000177192" } } }, "hgnc_date_symbol_changed": "2001-04-06" }, "entity_type": "gene", "entity_name": "PUS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25227147", "17056637", "15108122", "32287105", "31641589", "28832011" ], "evidence": [ "Expert Review Green", "Expert Review", "Victorian Clinical Genetics Services" ], "phenotypes": [ "myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553" ], "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": [ "TRPML1", "ML4", "MLIV", "MST080", "MSTP080", "TRPM-L1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13356", "gene_name": "mucolipin 1", "omim_gene": [ "605248" ], "alias_name": null, "gene_symbol": "MCOLN1", "hgnc_symbol": "MCOLN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:7587512-7598895", "ensembl_id": "ENSG00000090674" } }, "GRch38": { "90": { "location": "19:7522626-7534009", "ensembl_id": "ENSG00000090674" } } }, "hgnc_date_symbol_changed": "2000-09-19" }, "entity_type": "gene", "entity_name": "MCOLN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17239335", "25156245", "35205297" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mucolipidosis IV, MIM# 252650", "MONDO:0009653" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3099, "hash_id": null, "name": "Syndromic Retinopathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.", "status": "public", "version": "0.257", "version_created": "2026-04-21T11:24:13.037194+10:00", "relevant_disorders": [ "Retinopathy", "HP:0000488" ], "stats": { "number_of_genes": 139, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "gp330", "DBS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6694", "gene_name": "LDL receptor related protein 2", "omim_gene": [ "600073" ], "alias_name": [ "megalin" ], "gene_symbol": "LRP2", "hgnc_symbol": "LRP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:169983619-170219195", "ensembl_id": "ENSG00000081479" } }, "GRch38": { "90": { "location": "2:169127109-169362685", "ensembl_id": "ENSG00000081479" } } }, "hgnc_date_symbol_changed": "1994-05-04" }, "entity_type": "gene", "entity_name": "LRP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17632512" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Donnai-Barrow syndrome MIM#222448" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3099, "hash_id": null, "name": "Syndromic Retinopathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.", "status": "public", "version": "0.257", "version_created": "2026-04-21T11:24:13.037194+10:00", "relevant_disorders": [ "Retinopathy", "HP:0000488" ], "stats": { "number_of_genes": 139, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1592" ], "biotype": "protein_coding", "hgnc_id": "HGNC:105", "gene_name": "cyclin and CBS domain divalent metal cation transport mediator 4", "omim_gene": [ "607805" ], "alias_name": null, "gene_symbol": "CNNM4", "hgnc_symbol": "CNNM4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:97426639-97477628", "ensembl_id": "ENSG00000158158" } }, "GRch38": { "90": { "location": "2:96760902-96811891", "ensembl_id": "ENSG00000158158" } } }, "hgnc_date_symbol_changed": "1999-12-07" }, "entity_type": "gene", "entity_name": "CNNM4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Jalili syndrome, 217080 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ30681", "KIAA1983" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29426", "gene_name": "collagen and calcium binding EGF domains 1", "omim_gene": [ "612753" ], "alias_name": null, "gene_symbol": "CCBE1", "hgnc_symbol": "CCBE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:57098172-57364612", "ensembl_id": "ENSG00000183287" } }, "GRch38": { "90": { "location": "18:59430940-59697380", "ensembl_id": "ENSG00000183287" } } }, "hgnc_date_symbol_changed": "2005-01-18" }, "entity_type": "gene", "entity_name": "CCBE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DIC1", "PCD", "CILD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2954", "gene_name": "dynein axonemal intermediate chain 1", "omim_gene": [ "604366" ], "alias_name": null, "gene_symbol": "DNAI1", "hgnc_symbol": "DNAI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:34457412-34520982", "ensembl_id": "ENSG00000122735" } }, "GRch38": { "90": { "location": "9:34457414-34520989", "ensembl_id": "ENSG00000122735" } } }, "hgnc_date_symbol_changed": "2000-06-16" }, "entity_type": "gene", "entity_name": "DNAI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GBA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4177", "gene_name": "glucosylceramidase beta", "omim_gene": [ "606463" ], "alias_name": null, "gene_symbol": "GBA", "hgnc_symbol": "GBA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155204243-155214490", "ensembl_id": "ENSG00000177628" } }, "GRch38": { "90": { "location": "1:155234452-155244699", "ensembl_id": "ENSG00000177628" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GBA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Gaucher disease, perinatal lethal, 608013 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22259", "DKFZp686I14213" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2203", "gene_name": "collagen type IV alpha 2 chain", "omim_gene": [ "120090" ], "alias_name": [ "canstatin", "collagen type IV alpha 2" ], "gene_symbol": "COL4A2", "hgnc_symbol": "COL4A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:110958159-111165374", "ensembl_id": "ENSG00000134871" } }, "GRch38": { "90": { "location": "13:110305812-110513027", "ensembl_id": "ENSG00000134871" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL4A2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22209247" ], "evidence": [ "Expert Review Red", "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Stroke, hemorrhagic MIM#614519" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3144, "hash_id": null, "name": "Cerebral vascular malformations", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.", "status": "public", "version": "1.12", "version_created": "2026-01-22T10:52:30.127872+11:00", "relevant_disorders": [ "Abnormal cerebral vascular morphology HP:0100659" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DMC1", "HID-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15736", "gene_name": "HID1 domain containing", "omim_gene": [ "605752" ], "alias_name": [ "downregulated in multiple cancer 1" ], "gene_symbol": "HID1", "hgnc_symbol": "HID1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:72946838-72969261", "ensembl_id": "ENSG00000167861" } }, "GRch38": { "90": { "location": "17:74950743-74973166", "ensembl_id": "ENSG00000167861" } } }, "hgnc_date_symbol_changed": "2012-10-10" }, "entity_type": "gene", "entity_name": "HID1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33999436" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.226", "version_created": "2026-04-23T15:35:12.037215+10:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 128, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RhoGAP5", "p190-B", "p190BRhoGAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:675", "gene_name": "Rho GTPase activating protein 5", "omim_gene": [ "602680" ], "alias_name": null, "gene_symbol": "ARHGAP5", "hgnc_symbol": "ARHGAP5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:32545320-32628934", "ensembl_id": "ENSG00000100852" } }, "GRch38": { "90": { "location": "14:32076114-32159728", "ensembl_id": "ENSG00000100852" } } }, "hgnc_date_symbol_changed": "1997-08-28" }, "entity_type": "gene", "entity_name": "ARHGAP5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39308770", "36178483" ], "evidence": [ "Literature", "Expert Review Red", "Expert Review Red", "Literature" ], "phenotypes": [ "Kallmann syndrome MONDO:0018800" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.226", "version_created": "2026-04-23T15:35:12.037215+10:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 128, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9958", "gene_name": "renin", "omim_gene": [ "179820" ], "alias_name": null, "gene_symbol": "REN", "hgnc_symbol": "REN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:204123944-204135465", "ensembl_id": "ENSG00000143839" } }, "GRch38": { "90": { "location": "1:204154819-204190324", "ensembl_id": "ENSG00000143839" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "REN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Renal tubular dysgenesis" ], "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": [ "CT108" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16378", "gene_name": "otoancorin", "omim_gene": [ "607038" ], "alias_name": [ "cancer/testis antigen 108" ], "gene_symbol": "OTOA", "hgnc_symbol": "OTOA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:21689835-21772050", "ensembl_id": "ENSG00000155719" } }, "GRch38": { "90": { "location": "16:21678514-21760729", "ensembl_id": "ENSG00000155719" } } }, "hgnc_date_symbol_changed": "2002-07-05" }, "entity_type": "gene", "entity_name": "OTOA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Deafness, autosomal recessive" ], "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": [ "EVEC", "UP50", "DANCE", "ARMD3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3602", "gene_name": "fibulin 5", "omim_gene": [ "604580" ], "alias_name": null, "gene_symbol": "FBLN5", "hgnc_symbol": "FBLN5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:92335756-92414331", "ensembl_id": "ENSG00000140092" } }, "GRch38": { "90": { "location": "14:91869412-91947987", "ensembl_id": "ENSG00000140092" } } }, "hgnc_date_symbol_changed": "1999-06-25" }, "entity_type": "gene", "entity_name": "FBLN5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene", "BabySeq Category A gene" ], "phenotypes": [ "Cutis laxa", "Age-related macular degeneration" ], "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": [ "CDGS", "CDG1a", "PMI", "PMI1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9115", "gene_name": "phosphomannomutase 2", "omim_gene": [ "601785" ], "alias_name": [ "phosphomannose isomerase 1", "mannose-6-phosphate isomerase" ], "gene_symbol": "PMM2", "hgnc_symbol": "PMM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:8882680-8943188", "ensembl_id": "ENSG00000140650" } }, "GRch38": { "90": { "location": "16:8788823-8849331", "ensembl_id": "ENSG00000140650" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "PMM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ia" ], "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": [ "CPTASE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2330", "gene_name": "carnitine palmitoyltransferase 2", "omim_gene": [ "600650" ], "alias_name": null, "gene_symbol": "CPT2", "hgnc_symbol": "CPT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:53662101-53679869", "ensembl_id": "ENSG00000157184" } }, "GRch38": { "90": { "location": "1:53196429-53214197", "ensembl_id": "ENSG00000157184" } } }, "hgnc_date_symbol_changed": "1991-05-09" }, "entity_type": "gene", "entity_name": "CPT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Carnitine palmitoyltransferase 2 deficiency" ], "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": [ "PTS1R" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9719", "gene_name": "peroxisomal biogenesis factor 5", "omim_gene": [ "600414" ], "alias_name": [ "peroxisomal targeting signal 1 receptor", "peroxisomal import receptor 5" ], "gene_symbol": "PEX5", "hgnc_symbol": "PEX5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7341281-7371170", "ensembl_id": "ENSG00000139197" } }, "GRch38": { "90": { "location": "12:7188685-7218574", "ensembl_id": "ENSG00000139197" } } }, "hgnc_date_symbol_changed": "2004-03-19" }, "entity_type": "gene", "entity_name": "PEX5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21031596" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Literature" ], "phenotypes": [ "Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110" ], "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": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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": [ "ENaCgamma", "SCNEG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10602", "gene_name": "sodium channel epithelial 1 gamma subunit", "omim_gene": [ "600761" ], "alias_name": null, "gene_symbol": "SCNN1G", "hgnc_symbol": "SCNN1G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23194036-23228204", "ensembl_id": "ENSG00000166828" } }, "GRch38": { "90": { "location": "16:23182715-23216883", "ensembl_id": "ENSG00000166828" } } }, "hgnc_date_symbol_changed": "1995-05-10" }, "entity_type": "gene", "entity_name": "SCNN1G", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8640238", "11231969", "31522814", "7633160" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Pseudohypoaldosteronism, type I - MIM#264350" ], "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": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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": [ "UMPH1", "PSN1", "PN-I", "UMPH", "P5'N-1", "cN-III", "p36", "POMP", "hUMP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17820", "gene_name": "5'-nucleotidase, cytosolic IIIA", "omim_gene": [ "606224" ], "alias_name": [ "lupin" ], "gene_symbol": "NT5C3A", "hgnc_symbol": "NT5C3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:33053742-33102409", "ensembl_id": "ENSG00000122643" } }, "GRch38": { "90": { "location": "7:33014114-33062797", "ensembl_id": "ENSG00000122643" } } }, "hgnc_date_symbol_changed": "2013-03-06" }, "entity_type": "gene", "entity_name": "NT5C3A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11369620", "12714505", "30951028", "25153905" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120" ], "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": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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": [ "HI", "PHHI", "SUR1", "MRP8", "ABC36", "HHF1", "TNDM2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:59", "gene_name": "ATP binding cassette subfamily C member 8", "omim_gene": [ "600509" ], "alias_name": [ "sulfonylurea receptor (hyperinsulinemia)" ], "gene_symbol": "ABCC8", "hgnc_symbol": "ABCC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:17414432-17498449", "ensembl_id": "ENSG00000006071" } }, "GRch38": { "90": { "location": "11:17392885-17476845", "ensembl_id": "ENSG00000006071" } } }, "hgnc_date_symbol_changed": "1995-01-10" }, "entity_type": "gene", "entity_name": "ABCC8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857" ], "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": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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": [ "AGM1", "DKFZP434B187", "PAGM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8907", "gene_name": "phosphoglucomutase 3", "omim_gene": [ "172100" ], "alias_name": [ "acetylglucosamine phosphomutase" ], "gene_symbol": "PGM3", "hgnc_symbol": "PGM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:83870869-83903655", "ensembl_id": "ENSG00000013375" } }, "GRch38": { "90": { "location": "6:83161150-83193936", "ensembl_id": "ENSG00000013375" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PGM3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28543917", "24931394", "30578875", "31231132", "33098103", "30157810", "28704707" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "PGM3-CDG, MONDO:0014353", "Immunodeficiency 23, OMIM:615816" ], "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": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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": [ "ALK-5", "ACVRLK4", "ALK5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11772", "gene_name": "transforming growth factor beta receptor 1", "omim_gene": [ "190181" ], "alias_name": [ "activin A receptor type II-like kinase, 53kDa" ], "gene_symbol": "TGFBR1", "hgnc_symbol": "TGFBR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:101866320-101916474", "ensembl_id": "ENSG00000106799" } }, "GRch38": { "90": { "location": "9:99104038-99154192", "ensembl_id": "ENSG00000106799" } } }, "hgnc_date_symbol_changed": "1993-09-30" }, "entity_type": "gene", "entity_name": "TGFBR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Loeys-Dietz syndrome 1, MIM# 609192" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:18622", "gene_name": "component of oligomeric golgi complex 7", "omim_gene": [ "606978" ], "alias_name": null, "gene_symbol": "COG7", "hgnc_symbol": "COG7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23399814-23464501", "ensembl_id": "ENSG00000168434" } }, "GRch38": { "90": { "location": "16:23388493-23453180", "ensembl_id": "ENSG00000168434" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "COG7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15107842", "17356545", "28883096" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIe , MIM#608779" ], "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": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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": [ "S20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10405", "gene_name": "ribosomal protein S20", "omim_gene": [ "603682" ], "alias_name": null, "gene_symbol": "RPS20", "hgnc_symbol": "RPS20", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:56979854-56987069", "ensembl_id": "ENSG00000008988" } }, "GRch38": { "90": { "location": "8:56067295-56074581", "ensembl_id": "ENSG00000008988" } } }, "hgnc_date_symbol_changed": "1998-08-18" }, "entity_type": "gene", "entity_name": "RPS20", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "IBMDx Study", "Expert Review Amber", "Literature", "Expert Review Amber", "Literature" ], "phenotypes": [ "Diamond Blackfan anaemia" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3829, "hash_id": null, "name": "IBMDx study", "disease_group": "", "disease_sub_group": "", "description": "The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2, BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.", "status": "public", "version": "0.42", "version_created": "2026-03-19T18:45:41.236506+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Research", "slug": "research", "description": "Research panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CPRP1", "KIAA0214", "MARF", "CMT2A2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16877", "gene_name": "mitofusin 2", "omim_gene": [ "608507" ], "alias_name": null, "gene_symbol": "MFN2", "hgnc_symbol": "MFN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:12040238-12073571", "ensembl_id": "ENSG00000116688" } }, "GRch38": { "90": { "location": "1:11980181-12013514", "ensembl_id": "ENSG00000116688" } } }, "hgnc_date_symbol_changed": "2003-02-25" }, "entity_type": "gene", "entity_name": "MFN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15064763", "15549395", "16437557", "20008656" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087", "Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800" ], "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": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "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": [ "WNT-12", "SHFM6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12775", "gene_name": "Wnt family member 10B", "omim_gene": [ "601906" ], "alias_name": null, "gene_symbol": "WNT10B", "hgnc_symbol": "WNT10B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49359123-49365546", "ensembl_id": "ENSG00000169884" } }, "GRch38": { "90": { "location": "12:48965340-48971763", "ensembl_id": "ENSG00000169884" } } }, "hgnc_date_symbol_changed": "1997-09-05" }, "entity_type": "gene", "entity_name": "WNT10B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20635353", "16688749", "29427788", "24211389", "38058757", "39310870" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Split-hand/foot malformation 6, 225300 (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": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "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": [ "P450SCC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2590", "gene_name": "cytochrome P450 family 11 subfamily A member 1", "omim_gene": [ "118485" ], "alias_name": [ "cholesterol monooxygenase (side-chain-cleaving)" ], "gene_symbol": "CYP11A1", "hgnc_symbol": "CYP11A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:74630100-74660081", "ensembl_id": "ENSG00000140459" } }, "GRch38": { "90": { "location": "15:74337759-74367740", "ensembl_id": "ENSG00000140459" } } }, "hgnc_date_symbol_changed": "2003-01-17" }, "entity_type": "gene", "entity_name": "CYP11A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743" ], "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": [ "y+LAT-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11065", "gene_name": "solute carrier family 7 member 7", "omim_gene": [ "603593" ], "alias_name": null, "gene_symbol": "SLC7A7", "hgnc_symbol": "SLC7A7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23242431-23299029", "ensembl_id": "ENSG00000155465" } }, "GRch38": { "90": { "location": "14:22773222-22829820", "ensembl_id": "ENSG00000155465" } } }, "hgnc_date_symbol_changed": "1999-01-28" }, "entity_type": "gene", "entity_name": "SLC7A7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301535" ], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Lysinuric protein intolerance, MIM# 222700" ], "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": [ "L35A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10345", "gene_name": "ribosomal protein L35a", "omim_gene": [ "180468" ], "alias_name": null, "gene_symbol": "RPL35A", "hgnc_symbol": "RPL35A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:197676858-197683481", "ensembl_id": "ENSG00000182899" } }, "GRch38": { "90": { "location": "3:197949987-197956610", "ensembl_id": "ENSG00000182899" } } }, "hgnc_date_symbol_changed": "1991-11-29" }, "entity_type": "gene", "entity_name": "RPL35A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18535205", "32241839" ], "evidence": [ "Expert Review Green", "BabySeq Category C gene", "BeginNGS" ], "phenotypes": [ "Diamond-Blackfan anaemia 5, MIM#\t612528" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "treatable", "haematological" ], "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": [ "NAG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7632", "gene_name": "N-acetyl-alpha-glucosaminidase", "omim_gene": [ "609701" ], "alias_name": [ "Sanfilippo disease IIIB" ], "gene_symbol": "NAGLU", "hgnc_symbol": "NAGLU", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40688190-40696467", "ensembl_id": "ENSG00000108784" } }, "GRch38": { "90": { "location": "17:42536172-42544449", "ensembl_id": "ENSG00000108784" } } }, "hgnc_date_symbol_changed": "1995-09-15" }, "entity_type": "gene", "entity_name": "NAGLU", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25818867", "8650226", "14518829", "18392742", "11668611" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920" ], "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": "2.1", "version_created": "2026-04-24T17:01:18.976102+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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9455", "gene_name": "PROP paired-like homeobox 1", "omim_gene": [ "601538" ], "alias_name": null, "gene_symbol": "PROP1", "hgnc_symbol": "PROP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:177419236-177423243", "ensembl_id": "ENSG00000175325" } }, "GRch38": { "90": { "location": "5:177992235-177996242", "ensembl_id": "ENSG00000175325" } } }, "hgnc_date_symbol_changed": "1998-02-02" }, "entity_type": "gene", "entity_name": "PROP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301521, 31090814" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Pituitary hormone deficiency, combined, 2 MIM# 262600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4523, "hash_id": null, "name": "Adrenal insufficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.", "status": "public", "version": "0.76", "version_created": "2026-03-19T16:21:18.336273+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null } ] }