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GET /api/v1/entities/?format=api&page=256
{ "count": 36040, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=257", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=255", "results": [ { "gene_data": { "alias": [ "TLS", "FUS1", "hnRNP-P2", "HNRNPP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4010", "gene_name": "FUS RNA binding protein", "omim_gene": [ "137070" ], "alias_name": [ "heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma" ], "gene_symbol": "FUS", "hgnc_symbol": "FUS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:31191431-31203127", "ensembl_id": "ENSG00000089280" } }, "GRch38": { "90": { "location": "16:31180110-31194871", "ensembl_id": "ENSG00000089280" } } }, "hgnc_date_symbol_changed": "1992-11-26" }, "entity_type": "gene", "entity_name": "FUS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32941707", "32770214" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "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": [ "DKFZP586P0123" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24564", "gene_name": "C2 calcium dependent domain containing 3", "omim_gene": [ "615944" ], "alias_name": null, "gene_symbol": "C2CD3", "hgnc_symbol": "C2CD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:73723763-73882255", "ensembl_id": "ENSG00000168014" } }, "GRch38": { "90": { "location": "11:74012714-74171210", "ensembl_id": "ENSG00000168014" } } }, "hgnc_date_symbol_changed": "2007-10-17" }, "entity_type": "gene", "entity_name": "C2CD3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24997988", "26477546", "27094867", "30097616", "33875766" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Perinatal Autopsy Flagship" ], "phenotypes": [ "Orofaciodigital syndrome XIV, MIM# 615948", "MONDO:0014413" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.246", "version_created": "2026-03-02T10:22:48.751874+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7176", "gene_name": "matrix metallopeptidase 9", "omim_gene": [ "120361" ], "alias_name": null, "gene_symbol": "MMP9", "hgnc_symbol": "MMP9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:44637547-44645200", "ensembl_id": "ENSG00000100985" } }, "GRch38": { "90": { "location": "20:46008908-46016561", "ensembl_id": "ENSG00000100985" } } }, "hgnc_date_symbol_changed": "1990-03-14" }, "entity_type": "gene", "entity_name": "MMP9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19615667", "28342220", "34407464" ], "evidence": [ "Expert Review Green", "Literature", "Expert list", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Perinatal Autopsy Flagship" ], "phenotypes": [ "Metaphyseal anadysplasia 2 - MIM# 613073" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.246", "version_created": "2026-03-02T10:22:48.751874+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Nav1.8", "hPN3", "SNS", "PN3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10582", "gene_name": "sodium voltage-gated channel alpha subunit 10", "omim_gene": [ "604427" ], "alias_name": null, "gene_symbol": "SCN10A", "hgnc_symbol": "SCN10A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:38738293-38835501", "ensembl_id": "ENSG00000185313" } }, "GRch38": { "90": { "location": "3:38696802-38794010", "ensembl_id": "ENSG00000185313" } } }, "hgnc_date_symbol_changed": "1996-04-12" }, "entity_type": "gene", "entity_name": "SCN10A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29959160" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Brugada syndrome" ], "mode_of_inheritance": "Unknown", "tags": [ "disputed" ], "panel": { "id": 60, "hash_id": null, "name": "Brugada syndrome", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.46", "version_created": "2026-02-06T09:29:49.325637+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 23, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14244", "gene_name": "RAB18, member RAS oncogene family", "omim_gene": [ "602207" ], "alias_name": null, "gene_symbol": "RAB18", "hgnc_symbol": "RAB18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:27793197-27831143", "ensembl_id": "ENSG00000099246" } }, "GRch38": { "90": { "location": "10:27504174-27542237", "ensembl_id": "ENSG00000099246" } } }, "hgnc_date_symbol_changed": "2000-12-12" }, "entity_type": "gene", "entity_name": "RAB18", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11237903", "23420520" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Warburg micro syndrome 3, MIM# 614222" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDG1N" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30220", "gene_name": "RFT1 homolog", "omim_gene": [ "611908" ], "alias_name": [ "congenital disorder of glycosylation 1N" ], "gene_symbol": "RFT1", "hgnc_symbol": "RFT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:53122499-53164478", "ensembl_id": "ENSG00000163933" } }, "GRch38": { "90": { "location": "3:53088483-53130462", "ensembl_id": "ENSG00000163933" } } }, "hgnc_date_symbol_changed": "2005-01-19" }, "entity_type": "gene", "entity_name": "RFT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18313027", "19701946", "19856127", "23111317", "30071302", "29923091", "27927990", "26892341" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type In, MIM# 612015", "RFT1-CDG, MONDO:0012783" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 68, "hash_id": null, "name": "Congenital Disorders of Glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.85", "version_created": "2026-04-02T10:46:27.496905+11:00", "relevant_disorders": [ "Abnormal transferrin saturation", "HP:0040135" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TJ6", "a2", "TJ6s", "TJ6M", "ATP6a2", "J6B7", "ATP6N1D", "Vph1", "Stv1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18481", "gene_name": "ATPase H+ transporting V0 subunit a2", "omim_gene": [ "611716" ], "alias_name": [ "infantile malignant osteopetrosis" ], "gene_symbol": "ATP6V0A2", "hgnc_symbol": "ATP6V0A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:124196865-124246302", "ensembl_id": "ENSG00000185344" } }, "GRch38": { "90": { "location": "12:123712318-123761755", "ensembl_id": "ENSG00000185344" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "ATP6V0A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29952037", "22773132" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cutis laxa, autosomal recessive, type IIA, MIM# 219200", "Wrinkly skin syndrome, MIM#278250" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 68, "hash_id": null, "name": "Congenital Disorders of Glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.85", "version_created": "2026-04-02T10:46:27.496905+11:00", "relevant_disorders": [ "Abnormal transferrin saturation", "HP:0040135" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC5347", "FLJ12286" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28762", "gene_name": "spermatogenesis associated 5 like 1", "omim_gene": null, "alias_name": null, "gene_symbol": "SPATA5L1", "hgnc_symbol": "SPATA5L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:45694529-45713617", "ensembl_id": "ENSG00000171763" } }, "GRch38": { "90": { "location": "15:45402331-45421419", "ensembl_id": "ENSG00000171763" } } }, "hgnc_date_symbol_changed": "2004-03-16" }, "entity_type": "gene", "entity_name": "SPATA5L1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34626583" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4329", "gene_name": "glycine receptor beta", "omim_gene": [ "138492" ], "alias_name": null, "gene_symbol": "GLRB", "hgnc_symbol": "GLRB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:157997209-158093242", "ensembl_id": "ENSG00000109738" } }, "GRch38": { "90": { "location": "4:157076057-157172090", "ensembl_id": "ENSG00000109738" } } }, "hgnc_date_symbol_changed": "1998-08-21" }, "entity_type": "gene", "entity_name": "GLRB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21391991", "11929858", "27843043" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperekplexia 2, MIM# 614619" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 74, "hash_id": null, "name": "Brain Channelopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS.\r\n\r\nBrain channelopathies typically cause episodes of neurological dysfunction including a combination of ataxia, dystonia, abnormal extra movements, leg stiffness, weakness, headache and nausea. The episodes can last a few minutes or hours. Some patients have a primary headache in the form of hemiplegic migraine.\r\n\r\nThe Alternating Hemiplegia_Hemiplegic Migraine, Paroxysmal Dyskinesia, Ataxia and Dystonia panels may be considered where the clinical presentation is less clearly indicative of a brain channelopathy.\r\n\r\nThis panel has been compared against the Genomics England 'Brain Channelopathy' panel with all discordances resolved and reciprocal feedback provided to Genomics England PanelApp, 20/8/20.", "status": "public", "version": "1.5", "version_created": "2025-10-16T17:46:30.269069+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "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": [ "Kir2.1", "IRK1", "LQT7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6263", "gene_name": "potassium voltage-gated channel subfamily J member 2", "omim_gene": [ "600681" ], "alias_name": null, "gene_symbol": "KCNJ2", "hgnc_symbol": "KCNJ2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:68164814-68176189", "ensembl_id": "ENSG00000123700" } }, "GRch38": { "90": { "location": "17:70168673-70180048", "ensembl_id": "ENSG00000123700" } } }, "hgnc_date_symbol_changed": "1994-02-08" }, "entity_type": "gene", "entity_name": "KCNJ2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16217063", "16571646", "16419128", "17324964" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Andersen syndrome, MIM# 170390" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 74, "hash_id": null, "name": "Brain Channelopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS.\r\n\r\nBrain channelopathies typically cause episodes of neurological dysfunction including a combination of ataxia, dystonia, abnormal extra movements, leg stiffness, weakness, headache and nausea. The episodes can last a few minutes or hours. Some patients have a primary headache in the form of hemiplegic migraine.\r\n\r\nThe Alternating Hemiplegia_Hemiplegic Migraine, Paroxysmal Dyskinesia, Ataxia and Dystonia panels may be considered where the clinical presentation is less clearly indicative of a brain channelopathy.\r\n\r\nThis panel has been compared against the Genomics England 'Brain Channelopathy' panel with all discordances resolved and reciprocal feedback provided to Genomics England PanelApp, 20/8/20.", "status": "public", "version": "1.5", "version_created": "2025-10-16T17:46:30.269069+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "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:15534", "gene_name": "tektin 1", "omim_gene": [ "609002" ], "alias_name": null, "gene_symbol": "TEKT1", "hgnc_symbol": "TEKT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:6692452-6735080", "ensembl_id": "ENSG00000167858" } }, "GRch38": { "90": { "location": "17:6789133-6831761", "ensembl_id": "ENSG00000167858" } } }, "hgnc_date_symbol_changed": "2001-04-25" }, "entity_type": "gene", "entity_name": "TEKT1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Primary ciliary dyskinesia, MONDO:0016575" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "disputed" ], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DRC4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4166", "gene_name": "growth arrest specific 8", "omim_gene": [ "605178" ], "alias_name": null, "gene_symbol": "GAS8", "hgnc_symbol": "GAS8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:90086037-90111383", "ensembl_id": "ENSG00000141013" } }, "GRch38": { "90": { "location": "16:90019629-90044975", "ensembl_id": "ENSG00000141013" } } }, "hgnc_date_symbol_changed": "2003-01-17" }, "entity_type": "gene", "entity_name": "GAS8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26387594", "27120127" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 33, mIM# 616726" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10540", "CT111" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1161", "gene_name": "centrosomal protein 55", "omim_gene": [ "610000" ], "alias_name": [ "cancer/testis antigen 111" ], "gene_symbol": "CEP55", "hgnc_symbol": "CEP55", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:95256389-95288849", "ensembl_id": "ENSG00000138180" } }, "GRch38": { "90": { "location": "10:93496632-93529092", "ensembl_id": "ENSG00000138180" } } }, "hgnc_date_symbol_changed": "2005-12-01" }, "entity_type": "gene", "entity_name": "CEP55", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28264986", "28295209", "32100459" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARGP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2843", "gene_name": "diacylglycerol O-acyltransferase 1", "omim_gene": [ "604900" ], "alias_name": null, "gene_symbol": "DGAT1", "hgnc_symbol": "DGAT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145539954-145550573", "ensembl_id": "ENSG00000185000" } }, "GRch38": { "90": { "location": "8:144314584-144326910", "ensembl_id": "ENSG00000185000" } } }, "hgnc_date_symbol_changed": "2001-11-09" }, "entity_type": "gene", "entity_name": "DGAT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33261563", "32786057", "31778854", "28373485", "29604290" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diarrhoea 7, protein-losing enteropathy type, MIM# 615863" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.", "status": "public", "version": "1.30", "version_created": "2025-11-20T10:28:34.792243+11:00", "relevant_disorders": [ "Diarrhea HP:0002014" ], "stats": { "number_of_genes": 46, "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": [ "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": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33394555", "32683677" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIl, MIM# 614576" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "1.50", "version_created": "2026-04-12T14:14:27.453739+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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:22788", "gene_name": "FEZ family zinc finger 1", "omim_gene": [ "613301" ], "alias_name": null, "gene_symbol": "FEZF1", "hgnc_symbol": "FEZF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:121941448-121950745", "ensembl_id": "ENSG00000128610" } }, "GRch38": { "90": { "location": "7:122301394-122310691", "ensembl_id": "ENSG00000128610" } } }, "hgnc_date_symbol_changed": "2006-08-15" }, "entity_type": "gene", "entity_name": "FEZF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25192046", "32400067" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 22, with or without anosmia 616030" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "1.50", "version_created": "2026-04-12T14:14:27.453739+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": [ "XAP104", "H105e3", "SDR31E1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13398", "gene_name": "NAD(P) dependent steroid dehydrogenase-like", "omim_gene": [ "300275" ], "alias_name": [ "short chain dehydrogenase/reductase family 31E, member 1" ], "gene_symbol": "NSDHL", "hgnc_symbol": "NSDHL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:151999511-152038273", "ensembl_id": "ENSG00000147383" } }, "GRch38": { "90": { "location": "X:152830967-152869729", "ensembl_id": "ENSG00000147383" } } }, "hgnc_date_symbol_changed": "2004-04-30" }, "entity_type": "gene", "entity_name": "NSDHL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10710235", "26459993" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "CHILD syndrome MIM#308050", "Congenital hemidysplasia with ichthyosiform nevus and limb defects" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 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": [ "U5-15kD", "DIM1", "HsT161", "DIB1", "SNRNP15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30551", "gene_name": "thioredoxin like 4A", "omim_gene": [ "611595" ], "alias_name": [ "similar to S. pombe dim1+" ], "gene_symbol": "TXNL4A", "hgnc_symbol": "TXNL4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:77732867-77793949", "ensembl_id": "ENSG00000141759" } }, "GRch38": { "90": { "location": "18:79970811-80033949", "ensembl_id": "ENSG00000141759" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "gene", "entity_name": "TXNL4A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25434003" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Burn-McKeown syndrome, MIM# 608572", "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV", "5'UTR" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD99B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18237", "gene_name": "CD99 molecule like 2", "omim_gene": [ "300846" ], "alias_name": null, "gene_symbol": "CD99L2", "hgnc_symbol": "CD99L2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:149934810-150067289", "ensembl_id": "ENSG00000102181" } }, "GRch38": { "90": { "location": "X:150766337-150898816", "ensembl_id": "ENSG00000102181" } } }, "hgnc_date_symbol_changed": "2003-02-14" }, "entity_type": "gene", "entity_name": "CD99L2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41690933" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092", "CD99L2-related" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC35130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28559", "gene_name": "ubiquitin conjugating enzyme E2 U (putative)", "omim_gene": null, "alias_name": null, "gene_symbol": "UBE2U", "hgnc_symbol": "UBE2U", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:64669310-64733051", "ensembl_id": "ENSG00000177414" } }, "GRch38": { "90": { "location": "1:64203627-64267368", "ensembl_id": "ENSG00000177414" } } }, "hgnc_date_symbol_changed": "2005-03-21" }, "entity_type": "gene", "entity_name": "UBE2U", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "PMID: 33776059" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Retinoschisis", "cataracts", "learning disabilities", "developmental delay" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0654", "LPNA3", "MGC126567", "MGC126569" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9247", "gene_name": "PTPRF interacting protein alpha 3", "omim_gene": [ "603144" ], "alias_name": [ "protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin" ], "gene_symbol": "PPFIA3", "hgnc_symbol": "PPFIA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:49622646-49654283", "ensembl_id": "ENSG00000177380" } }, "GRch38": { "90": { "location": "19:49119389-49151026", "ensembl_id": "ENSG00000177380" } } }, "hgnc_date_symbol_changed": "1998-10-23" }, "entity_type": "gene", "entity_name": "PPFIA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38723631" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Paul-Chao neurodevelopmental syndrome, MIM# 621122" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1573" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29314", "gene_name": "cache domain containing 1", "omim_gene": null, "alias_name": null, "gene_symbol": "CACHD1", "hgnc_symbol": "CACHD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:64936428-65158741", "ensembl_id": "ENSG00000158966" } }, "GRch38": { "90": { "location": "1:64470792-64693058", "ensembl_id": "ENSG00000158966" } } }, "hgnc_date_symbol_changed": "2005-10-11" }, "entity_type": "gene", "entity_name": "CACHD1", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 38158856" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "syndromic complex neurodevelopmental disorder MONDO:0800439" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FILIP", "KIAA1275" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21015", "gene_name": "filamin A interacting protein 1", "omim_gene": [ "607307" ], "alias_name": null, "gene_symbol": "FILIP1", "hgnc_symbol": "FILIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:76001575-76203454", "ensembl_id": "ENSG00000118407" } }, "GRch38": { "90": { "location": "6:75291859-75493738", "ensembl_id": "ENSG00000118407" } } }, "hgnc_date_symbol_changed": "2003-05-02" }, "entity_type": "gene", "entity_name": "FILIP1", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "36943452" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HUNKI", "MCAP", "CAP", "HUNK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13575", "gene_name": "bromodomain containing 4", "omim_gene": [ "608749" ], "alias_name": [ "chromosome-associated protein" ], "gene_symbol": "BRD4", "hgnc_symbol": "BRD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:15347647-15443356", "ensembl_id": "ENSG00000141867" } }, "GRch38": { "90": { "location": "19:15235519-15332545", "ensembl_id": "ENSG00000141867" } } }, "hgnc_date_symbol_changed": "2000-09-26" }, "entity_type": "gene", "entity_name": "BRD4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29379197", "30302754", "11997514", "34035299" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cornelia de Lange syndrome 6, MIM# 620568" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ30600", "CORD16", "RP64", "BBS21" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27232", "gene_name": "chromosome 8 open reading frame 37", "omim_gene": [ "614477" ], "alias_name": null, "gene_symbol": "C8orf37", "hgnc_symbol": "C8orf37", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:96257147-96281429", "ensembl_id": "ENSG00000156172" } }, "GRch38": { "90": { "location": "8:95244919-95269201", "ensembl_id": "ENSG00000156172" } } }, "hgnc_date_symbol_changed": "2005-07-27" }, "entity_type": "gene", "entity_name": "C8orf37", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27008867", "26854863", "22177090", "25113443", "26865426", "25802487" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 21, MIM#617406", "Retinitis pigmentosa 64, MIM#614500" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "G25K", "CDC42Hs" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1736", "gene_name": "cell division cycle 42", "omim_gene": [ "116952" ], "alias_name": [ "GTP binding protein, 25kDa" ], "gene_symbol": "CDC42", "hgnc_symbol": "CDC42", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:22379120-22419437", "ensembl_id": "ENSG00000070831" } }, "GRch38": { "90": { "location": "1:22052627-22092946", "ensembl_id": "ENSG00000070831" } } }, "hgnc_date_symbol_changed": "1991-06-06" }, "entity_type": "gene", "entity_name": "CDC42", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29394990", "31601675", "32303876", "32231661" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Takenouchi-Kosaki syndrome, MIM#616737" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3647", "gene_name": "ferrochelatase", "omim_gene": [ "612386" ], "alias_name": [ "protoporphyria" ], "gene_symbol": "FECH", "hgnc_symbol": "FECH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:55215515-55254004", "ensembl_id": "ENSG00000066926" } }, "GRch38": { "90": { "location": "18:57548283-57586772", "ensembl_id": "ENSG00000066926" } } }, "hgnc_date_symbol_changed": "1990-05-14" }, "entity_type": "gene", "entity_name": "FECH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20105171", "23016163" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Protoporphyria, erythropoietic, 1 177000 AR" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV", "deep intronic" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5433", "gene_name": "interferon alpha and beta receptor subunit 2", "omim_gene": [ "602376" ], "alias_name": null, "gene_symbol": "IFNAR2", "hgnc_symbol": "IFNAR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:34602206-34637980", "ensembl_id": "ENSG00000159110" } }, "GRch38": { "90": { "location": "21:33229901-33265675", "ensembl_id": "ENSG00000159110" } } }, "hgnc_date_symbol_changed": "1995-05-08" }, "entity_type": "gene", "entity_name": "IFNAR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26424569", "35442417" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency 45, MIM# 616669" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "mer", "RP38", "c-Eyk", "Tyro12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7027", "gene_name": "MER proto-oncogene, tyrosine kinase", "omim_gene": [ "604705" ], "alias_name": null, "gene_symbol": "MERTK", "hgnc_symbol": "MERTK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:112656056-112787138", "ensembl_id": "ENSG00000153208" } }, "GRch38": { "90": { "location": "2:111898479-112029561", "ensembl_id": "ENSG00000153208" } } }, "hgnc_date_symbol_changed": "1998-11-30" }, "entity_type": "gene", "entity_name": "MERTK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11062461", "17301963", "20300561", "22180149" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Retinitis pigmentosa 38, MIM# 613862" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MOCOD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7190", "gene_name": "molybdenum cofactor synthesis 1", "omim_gene": [ "603707" ], "alias_name": null, "gene_symbol": "MOCS1", "hgnc_symbol": "MOCS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:39867354-39902290", "ensembl_id": "ENSG00000124615" } }, "GRch38": { "90": { "location": "6:39899578-39934551", "ensembl_id": "ENSG00000124615" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "MOCS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21031595", "9921896", "12754701", "27604308", "9731530" ], "evidence": [ "Expert Review Green", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Molybdenum cofactor deficiency A, MIM# 252150" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9175", "gene_name": "DNA polymerase delta 1, catalytic subunit", "omim_gene": [ "174761" ], "alias_name": [ "CDC2 homolog (S. cerevisiae)" ], "gene_symbol": "POLD1", "hgnc_symbol": "POLD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50887461-50921273", "ensembl_id": "ENSG00000062822" } }, "GRch38": { "90": { "location": "19:50384204-50418018", "ensembl_id": "ENSG00000062822" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "POLD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31629014", "31449058", "23770608", "33618333", "33369179", "32826474", "30023403", "29199204", "28791128" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381", "MONDO:0014157", "Immunodeficiency 120, MIM#\t620836" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22341", "RHBDL5", "TOCG", "iRhom2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20788", "gene_name": "rhomboid 5 homolog 2", "omim_gene": [ "614404" ], "alias_name": null, "gene_symbol": "RHBDF2", "hgnc_symbol": "RHBDF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:74466973-74497872", "ensembl_id": "ENSG00000129667" } }, "GRch38": { "90": { "location": "17:76470891-76501790", "ensembl_id": "ENSG00000129667" } } }, "hgnc_date_symbol_changed": "2006-02-22" }, "entity_type": "gene", "entity_name": "RHBDF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22265016", "22638770", "34937930" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Tylosis with esophageal cancer, MIM# 148500", "Immune dysregulation" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSD3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20423", "gene_name": "spermatogenesis associated 7", "omim_gene": [ "609868" ], "alias_name": null, "gene_symbol": "SPATA7", "hgnc_symbol": "SPATA7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:88851268-88936694", "ensembl_id": "ENSG00000042317" } }, "GRch38": { "90": { "location": "14:88384924-88470350", "ensembl_id": "ENSG00000042317" } } }, "hgnc_date_symbol_changed": "2003-03-07" }, "entity_type": "gene", "entity_name": "SPATA7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31908400", "32799588" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Leber congenital amaurosis 3, MIM#604232", "Autosomal recessive juvenile retinitis pigmentosa, MIM#604232" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZNEUROK1", "NKB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11521", "gene_name": "tachykinin 3", "omim_gene": [ "162330" ], "alias_name": [ "preprotachykinin-B" ], "gene_symbol": "TAC3", "hgnc_symbol": "TAC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:57403784-57422667", "ensembl_id": "ENSG00000166863" } }, "GRch38": { "90": { "location": "12:57010000-57028883", "ensembl_id": "ENSG00000166863" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TAC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19079066", "20332248", "23329188", "22031817" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HsT2651", "CTS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12405", "gene_name": "transthyretin", "omim_gene": [ "176300" ], "alias_name": null, "gene_symbol": "TTR", "hgnc_symbol": "TTR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:29171689-29178974", "ensembl_id": "ENSG00000118271" } }, "GRch38": { "90": { "location": "18:31591726-31599021", "ensembl_id": "ENSG00000118271" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TTR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "1570831", "1626570", "16115295", "16194874", "26537620" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyloidosis, hereditary, transthyretin-related, MIM #105210", "Carpal tunnel syndrome, familial, MIM# 115430" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32029", "BM32A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20898", "gene_name": "phosphoglucomutase 2 like 1", "omim_gene": [ "611610" ], "alias_name": [ "glucose-1,6-bisphosphate synthase" ], "gene_symbol": "PGM2L1", "hgnc_symbol": "PGM2L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:74041363-74109518", "ensembl_id": "ENSG00000165434" } }, "GRch38": { "90": { "location": "11:74330318-74398473", "ensembl_id": "ENSG00000165434" } } }, "hgnc_date_symbol_changed": "2004-01-20" }, "entity_type": "gene", "entity_name": "PGM2L1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33979636" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SEC84", "EXO84", "Exo84p" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24659", "gene_name": "exocyst complex component 8", "omim_gene": [ "615283" ], "alias_name": null, "gene_symbol": "EXOC8", "hgnc_symbol": "EXOC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:231468480-231473598", "ensembl_id": "ENSG00000116903" } }, "GRch38": { "90": { "location": "1:231332753-231337852", "ensembl_id": "ENSG00000116903" } } }, "hgnc_date_symbol_changed": "2004-01-09" }, "entity_type": "gene", "entity_name": "EXOC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32103185", "22700954", "36344539", "35460391" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy MONDO:0033662" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "mitAAT", "KATIV", "KAT4", "KYAT4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4433", "gene_name": "glutamic-oxaloacetic transaminase 2", "omim_gene": [ "138150" ], "alias_name": [ "kynurenine aminotransferase IV", "aspartate aminotransferase 2", "aspartate transaminase 2" ], "gene_symbol": "GOT2", "hgnc_symbol": "GOT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:58741035-58768261", "ensembl_id": "ENSG00000125166" } }, "GRch38": { "90": { "location": "16:58707131-58734357", "ensembl_id": "ENSG00000125166" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GOT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31422819" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 82, MIM#\t618721" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1013", "GRSP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24886", "gene_name": "FERM domain containing 4B", "omim_gene": [ "617467" ], "alias_name": null, "gene_symbol": "FRMD4B", "hgnc_symbol": "FRMD4B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:69219141-69591734", "ensembl_id": "ENSG00000114541" } }, "GRch38": { "90": { "location": "3:69169990-69542583", "ensembl_id": "ENSG00000114541" } } }, "hgnc_date_symbol_changed": "2004-07-15" }, "entity_type": "gene", "entity_name": "FRMD4B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40162949" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Duane retraction syndrome, MONDO:0007473, FRMD4B-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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "trnK" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7489", "gene_name": "mitochondrially encoded tRNA lysine", "omim_gene": [ "590060" ], "alias_name": null, "gene_symbol": "MT-TK", "hgnc_symbol": "MT-TK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:8295-8364", "ensembl_id": "ENSG00000210156" } }, "GRch38": { "90": { "location": "MT:8295-8364", "ensembl_id": "ENSG00000210156" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "9380435", "19618438", "17410322", "25559684", "1361099", "10868777", "35821181", "36675808" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TK-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PTA", "PT-ALPHA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21290", "gene_name": "pre T-cell antigen receptor alpha", "omim_gene": [ "606817" ], "alias_name": null, "gene_symbol": "PTCRA", "hgnc_symbol": "PTCRA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:42883727-42893573", "ensembl_id": "ENSG00000171611" } }, "GRch38": { "90": { "location": "6:42915989-42925835", "ensembl_id": "ENSG00000171611" } } }, "hgnc_date_symbol_changed": "2003-06-02" }, "entity_type": "gene", "entity_name": "PTCRA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38422122" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Immunodeficiency 126, MIM# 620931" ], "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": "1.4749", "version_created": "2026-04-17T16:39:03.838514+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "parafibromin", "FIHP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16783", "gene_name": "cell division cycle 73", "omim_gene": [ "607393" ], "alias_name": [ "Paf1/RNA polymerase II complex component" ], "gene_symbol": "CDC73", "hgnc_symbol": "CDC73", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:193091147-193223031", "ensembl_id": "ENSG00000134371" } }, "GRch38": { "90": { "location": "1:193122017-193253901", "ensembl_id": "ENSG00000134371" } } }, "hgnc_date_symbol_changed": "2005-07-20" }, "entity_type": "gene", "entity_name": "CDC73", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Parathyroid carcinoma, MIM# 608266" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 152, "hash_id": null, "name": "Cancer Predisposition_Paediatric", "disease_group": "Cancer", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.133", "version_created": "2026-01-12T09:35:45.797477+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 106, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FAF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3587", "gene_name": "Fanconi anemia complementation group F", "omim_gene": [ "613897" ], "alias_name": null, "gene_symbol": "FANCF", "hgnc_symbol": "FANCF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:22644079-22647387", "ensembl_id": "ENSG00000183161" } }, "GRch38": { "90": { "location": "11:22622519-22626787", "ensembl_id": "ENSG00000183161" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "FANCF", "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": 152, "hash_id": null, "name": "Cancer Predisposition_Paediatric", "disease_group": "Cancer", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.133", "version_created": "2026-01-12T09:35:45.797477+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 106, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:397", "gene_name": "5'-aminolevulinate synthase 2", "omim_gene": [ "301300" ], "alias_name": [ "sideroblastic/hypochromic anemia" ], "gene_symbol": "ALAS2", "hgnc_symbol": "ALAS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:55035488-55057497", "ensembl_id": "ENSG00000158578" } }, "GRch38": { "90": { "location": "X:55009055-55031064", "ensembl_id": "ENSG00000158578" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "ALAS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "PMID: 25615817" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Protoporphyria, erythropoietic, X-linked\t300752" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 156, "hash_id": null, "name": "Photosensitivity Syndromes", "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 photosensitivity, in particular DNA repair disorders and porphyrias.", "status": "public", "version": "1.11", "version_created": "2025-12-08T10:32:19.181318+11:00", "relevant_disorders": [ "Cutaneous photosensitivity", "HP:0000992" ], "stats": { "number_of_genes": 28, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp781M2411", "RalGAPbeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29221", "gene_name": "Ral GTPase activating protein non-catalytic beta subunit", "omim_gene": null, "alias_name": null, "gene_symbol": "RALGAPB", "hgnc_symbol": "RALGAPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:37101459-37207504", "ensembl_id": "ENSG00000170471" } }, "GRch38": { "90": { "location": "20:38472816-38578861", "ensembl_id": "ENSG00000170471" } } }, "hgnc_date_symbol_changed": "2009-09-09" }, "entity_type": "gene", "entity_name": "RALGAPB", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32853829" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorders, autism" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP434L057", "BIG1", "ARFGEP1", "p200" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15772", "gene_name": "ADP ribosylation factor guanine nucleotide exchange factor 1", "omim_gene": [ "604141" ], "alias_name": [ "Brefeldin A-inhibited guanine nucleotide-exchange protein 1" ], "gene_symbol": "ARFGEF1", "hgnc_symbol": "ARFGEF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:68085747-68255912", "ensembl_id": "ENSG00000066777" } }, "GRch38": { "90": { "location": "8:67173511-67343677", "ensembl_id": "ENSG00000066777" } } }, "hgnc_date_symbol_changed": "2004-08-09" }, "entity_type": "gene", "entity_name": "ARFGEF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34113008" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BCNG-2", "HAC-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4846", "gene_name": "hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2", "omim_gene": [ "602781" ], "alias_name": null, "gene_symbol": "HCN2", "hgnc_symbol": "HCN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:589893-617159", "ensembl_id": "ENSG00000099822" } }, "GRch38": { "90": { "location": "19:589893-617159", "ensembl_id": "ENSG00000099822" } } }, "hgnc_date_symbol_changed": "1998-08-20" }, "entity_type": "gene", "entity_name": "HCN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "40468825", "22131395", "30986657", "29064616", "20437590", "12514127", "17931874" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Generalized epilepsy with febrile seizures plus, type 11, MIM#\t602477", "Febrile seizures, familial, 2, MIM# 602477", "Genetic epilepsy with febrile seizures plus", "Other seizure disorders" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:32", "gene_name": "ATP binding cassette subfamily A member 2", "omim_gene": [ "600047" ], "alias_name": null, "gene_symbol": "ABCA2", "hgnc_symbol": "ABCA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139901686-139923367", "ensembl_id": "ENSG00000107331" } }, "GRch38": { "90": { "location": "9:137007227-137028922", "ensembl_id": "ENSG00000107331" } } }, "hgnc_date_symbol_changed": "1994-03-16" }, "entity_type": "gene", "entity_name": "ABCA2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "30237576", "29302074", "31047799" ], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dJ236A3.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21062", "gene_name": "phenylalanyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "611592" ], "alias_name": [ "phenylalanine tRNA ligase 2, mitochondrial" ], "gene_symbol": "FARS2", "hgnc_symbol": "FARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:5261277-5771813", "ensembl_id": "ENSG00000145982" } }, "GRch38": { "90": { "location": "6:5261044-5771580", "ensembl_id": "ENSG00000145982" } } }, "hgnc_date_symbol_changed": "2004-12-03" }, "entity_type": "gene", "entity_name": "FARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30250868", "30177229", "29126765", "28043061" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "combined oxidative phosphorylation defect type 14 MONDO:0013986", "hereditary spastic paraplegia 77 MONDO:0014882" ], "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": null }, { "gene_data": { "alias": [ "E3BP", "proX", "PDX1", "OPDX", "DLDBP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21350", "gene_name": "pyruvate dehydrogenase complex component X", "omim_gene": [ "608769" ], "alias_name": null, "gene_symbol": "PDHX", "hgnc_symbol": "PDHX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:34937376-35042138", "ensembl_id": "ENSG00000110435" } }, "GRch38": { "90": { "location": "11:34915829-35020591", "ensembl_id": "ENSG00000110435" } } }, "hgnc_date_symbol_changed": "2003-06-24" }, "entity_type": "gene", "entity_name": "PDHX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20002125", "34873726", "33092611", "30981218", "25087164", "22766002" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Lactic acidaemia due to PDX1 deficiency MIM#245349" ], "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": null }, { "gene_data": { "alias": [ "TAFII150", "CIF150" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11536", "gene_name": "TATA-box binding protein associated factor 2", "omim_gene": [ "604912" ], "alias_name": null, "gene_symbol": "TAF2", "hgnc_symbol": "TAF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:120743015-120845103", "ensembl_id": "ENSG00000064313" } }, "GRch38": { "90": { "location": "8:119730775-119832863", "ensembl_id": "ENSG00000064313" } } }, "hgnc_date_symbol_changed": "2001-12-07" }, "entity_type": "gene", "entity_name": "TAF2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "Other", "publications": [ "PMID: 34474177" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual development disorder, autosomal recessive 40, MIM# 615599" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "U2AF65" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23156", "gene_name": "U2 small nuclear RNA auxiliary factor 2", "omim_gene": [ "191318" ], "alias_name": [ "U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit" ], "gene_symbol": "U2AF2", "hgnc_symbol": "U2AF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:56165512-56186081", "ensembl_id": "ENSG00000063244" } }, "GRch38": { "90": { "location": "19:55654146-55674715", "ensembl_id": "ENSG00000063244" } } }, "hgnc_date_symbol_changed": "2003-10-28" }, "entity_type": "gene", "entity_name": "U2AF2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34112922", "37092751", "36747105", "37134193" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hSNF2b", "BRG1", "BAF190", "SNF2", "SWI2", "SNF2-BETA", "SNF2LB", "FLJ39786" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11100", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4", "omim_gene": [ "603254" ], "alias_name": [ "SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4" ], "gene_symbol": "SMARCA4", "hgnc_symbol": "SMARCA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:11071598-11176071", "ensembl_id": "ENSG00000127616" } }, "GRch38": { "90": { "location": "19:10961001-11065395", "ensembl_id": "ENSG00000127616" } } }, "hgnc_date_symbol_changed": "1995-07-17" }, "entity_type": "gene", "entity_name": "SMARCA4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GENX-3947", "DYT23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14004", "gene_name": "anoctamin 3", "omim_gene": [ "610110" ], "alias_name": [ "transmembrane protein 16C (eight membrane-spanning domains)" ], "gene_symbol": "ANO3", "hgnc_symbol": "ANO3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:26210829-26684835", "ensembl_id": "ENSG00000134343" } }, "GRch38": { "90": { "location": "11:26309599-26663288", "ensembl_id": "ENSG00000134343" } } }, "hgnc_date_symbol_changed": "2008-08-28" }, "entity_type": "gene", "entity_name": "ANO3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dystonia 24, 615034", "familial form of cranio-cervical dystonia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20032" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25941", "gene_name": "tet methylcytosine dioxygenase 2", "omim_gene": [ "612839" ], "alias_name": null, "gene_symbol": "TET2", "hgnc_symbol": "TET2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:106067032-106200973", "ensembl_id": "ENSG00000168769" } }, "GRch38": { "90": { "location": "4:105145875-105279816", "ensembl_id": "ENSG00000168769" } } }, "hgnc_date_symbol_changed": "2008-03-12" }, "entity_type": "gene", "entity_name": "TET2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32518946" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Immune dysregulation", "Lymphoma", "Immunodeficiency-75 (IMD75), MIM#619126" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 229, "hash_id": null, "name": "Disorders of immune dysregulation", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.43", "version_created": "2026-04-06T13:01:39.255117+10:00", "relevant_disorders": [ "Immune dysregulation", "HP:0002958" ], "stats": { "number_of_genes": 118, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MAPBPIP", "MAPKSP1AP", "p14", "ENDAP", "Ragulator2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29796", "gene_name": "late endosomal/lysosomal adaptor, MAPK and MTOR activator 2", "omim_gene": [ "610389" ], "alias_name": [ "mitogen activated protein binding protein interacting protein", "MAPKSP1 adaptor protein", "endosomal adaptor protein" ], "gene_symbol": "LAMTOR2", "hgnc_symbol": "LAMTOR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156024543-156028301", "ensembl_id": "ENSG00000116586" } }, "GRch38": { "90": { "location": "1:156054752-156058510", "ensembl_id": "ENSG00000116586" } } }, "hgnc_date_symbol_changed": "2011-02-15" }, "entity_type": "gene", "entity_name": "LAMTOR2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17195838", "24092934" ], "evidence": [ "Expert Review Amber", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798" ], "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": [ "AGTAVPRL", "AII", "AVP", "FCAS", "FCU", "NALP3", "PYPAF1", "MWS", "CLR1.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16400", "gene_name": "NLR family pyrin domain containing 3", "omim_gene": [ "606416" ], "alias_name": [ "Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3" ], "gene_symbol": "NLRP3", "hgnc_symbol": "NLRP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:247579458-247612410", "ensembl_id": "ENSG00000162711" } }, "GRch38": { "90": { "location": "1:247416156-247449108", "ensembl_id": "ENSG00000162711" } } }, "hgnc_date_symbol_changed": "2006-12-08" }, "entity_type": "gene", "entity_name": "NLRP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12032915", "12483741", "28847925", "11687797" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Familial cold inflammatory syndrome 1, MIM# 120100", "Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772", "CINCA syndrome, MIM#12032915 607115" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FAF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3587", "gene_name": "Fanconi anemia complementation group F", "omim_gene": [ "613897" ], "alias_name": null, "gene_symbol": "FANCF", "hgnc_symbol": "FANCF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:22644079-22647387", "ensembl_id": "ENSG00000183161" } }, "GRch38": { "90": { "location": "11:22622519-22626787", "ensembl_id": "ENSG00000183161" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "FANCF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PMID: 30234181" ], "evidence": [ "Literature", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [ "umccr" ], "panel": { "id": 242, "hash_id": null, "name": "Homologous_recombination_deficiency_WTS_UMCCR", "disease_group": "Cancer", "disease_sub_group": "", "description": "Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of genes involved in homologous recombination DNA damage repair (HR-DDR) deficiency in various cancer types. This set of genes is used in UMCCR WTS report \"HRD genes\" section\r\n\r\nSource: -\r\n\r\nGithub: https://github.com/umccr/RNAsum", "status": "public", "version": "0.45", "version_created": "2025-11-03T15:31:09.278966+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 36, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MWFE", "CI-MWFE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7683", "gene_name": "NADH:ubiquinone oxidoreductase subunit A1", "omim_gene": [ "300078" ], "alias_name": [ "NADH:ubiquinone oxidoreductase (complex 1)", "type I dehydrogenase", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)", "complex I MWFE subunit" ], "gene_symbol": "NDUFA1", "hgnc_symbol": "NDUFA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:119005450-119010625", "ensembl_id": "ENSG00000125356" } }, "GRch38": { "90": { "location": "X:119871487-119876662", "ensembl_id": "ENSG00000125356" } } }, "hgnc_date_symbol_changed": "1996-08-16" }, "entity_type": "gene", "entity_name": "NDUFA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29506883", "19185523", "17262856", "21596602" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 12 MIM#301020" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12734" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27302", "gene_name": "IBA57 homolog, iron-sulfur cluster assembly", "omim_gene": [ "615316" ], "alias_name": [ "iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa" ], "gene_symbol": "IBA57", "hgnc_symbol": "IBA57", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:228353516-228369958", "ensembl_id": "ENSG00000181873" } }, "GRch38": { "90": { "location": "1:228165815-228182257", "ensembl_id": "ENSG00000181873" } } }, "hgnc_date_symbol_changed": "2011-03-11" }, "entity_type": "gene", "entity_name": "IBA57", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Multiple mitochondrial dysfunctions syndrome 3, MIM#615330" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JBTS14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14432", "gene_name": "transmembrane protein 237", "omim_gene": [ "614423" ], "alias_name": null, "gene_symbol": "TMEM237", "hgnc_symbol": "TMEM237", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:202484907-202508293", "ensembl_id": "ENSG00000155755" } }, "GRch38": { "90": { "location": "2:201620184-201643570", "ensembl_id": "ENSG00000155755" } } }, "hgnc_date_symbol_changed": "2011-05-20" }, "entity_type": "gene", "entity_name": "TMEM237", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22152675" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Joubert syndrome 14, MIM# 614424" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RAFT1", "RAPT1", "FLJ44809" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3942", "gene_name": "mechanistic target of rapamycin kinase", "omim_gene": [ "601231" ], "alias_name": [ "FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin" ], "gene_symbol": "MTOR", "hgnc_symbol": "MTOR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:11166592-11322564", "ensembl_id": "ENSG00000198793" } }, "GRch38": { "90": { "location": "1:11106535-11262507", "ensembl_id": "ENSG00000198793" } } }, "hgnc_date_symbol_changed": "2009-05-29" }, "entity_type": "gene", "entity_name": "MTOR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "28892148", "25878179", "26018084" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Smith-Kingsmore syndrome, MIM# 616638", "Focal cortical dysplasia, type II, somatic, MIM# 607341", "Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ90492", "SMILE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26899", "gene_name": "transmembrane and tetratricopeptide repeat containing 3", "omim_gene": [ "617218" ], "alias_name": null, "gene_symbol": "TMTC3", "hgnc_symbol": "TMTC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:88536073-88593664", "ensembl_id": "ENSG00000139324" } }, "GRch38": { "90": { "location": "12:88142296-88199887", "ensembl_id": "ENSG00000139324" } } }, "hgnc_date_symbol_changed": "2006-01-06" }, "entity_type": "gene", "entity_name": "TMTC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27773428", "28973161" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Lissencephaly 8 (MIM#617255)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RZRA", "ROR1", "ROR2", "ROR3", "NR1F1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10258", "gene_name": "RAR related orphan receptor A", "omim_gene": [ "600825" ], "alias_name": null, "gene_symbol": "RORA", "hgnc_symbol": "RORA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:60780483-61521518", "ensembl_id": "ENSG00000069667" } }, "GRch38": { "90": { "location": "15:60488284-61229319", "ensembl_id": "ENSG00000069667" } } }, "hgnc_date_symbol_changed": "1995-04-13" }, "entity_type": "gene", "entity_name": "RORA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "29656859" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NB-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2176", "gene_name": "contactin 6", "omim_gene": [ "607220" ], "alias_name": [ "neural adhesion molecule" ], "gene_symbol": "CNTN6", "hgnc_symbol": "CNTN6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:1134260-1445901", "ensembl_id": "ENSG00000134115" } }, "GRch38": { "90": { "location": "3:1092576-1404217", "ensembl_id": "ENSG00000134115" } } }, "hgnc_date_symbol_changed": "2000-05-26" }, "entity_type": "gene", "entity_name": "CNTN6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30836150", "28641109", "29983269" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, CNTN6-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "WALp4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:963", "gene_name": "bromodomain adjacent to zinc finger domain 2B", "omim_gene": [ "605683" ], "alias_name": null, "gene_symbol": "BAZ2B", "hgnc_symbol": "BAZ2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:160175490-160473203", "ensembl_id": "ENSG00000123636" } }, "GRch38": { "90": { "location": "2:159318979-159616692", "ensembl_id": "ENSG00000123636" } } }, "hgnc_date_symbol_changed": "1999-09-06" }, "entity_type": "gene", "entity_name": "BAZ2B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31999386", "37872713" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, BAZ2B-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "B56G", "PR61G", "B56gamma" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9311", "gene_name": "protein phosphatase 2 regulatory subunit B'gamma", "omim_gene": [ "601645" ], "alias_name": null, "gene_symbol": "PPP2R5C", "hgnc_symbol": "PPP2R5C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:102228135-102394326", "ensembl_id": "ENSG00000078304" } }, "GRch38": { "90": { "location": "14:101761798-101927989", "ensembl_id": "ENSG00000078304" } } }, "hgnc_date_symbol_changed": "1996-05-08" }, "entity_type": "gene", "entity_name": "PPP2R5C", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "25972378" ], "evidence": [ "Expert Review Green", "Research" ], "phenotypes": [ "Houge-Janssens syndrome 4, MIM# 621185" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp434P0111", "CSC1", "hsCSC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23787", "gene_name": "transmembrane protein 63C", "omim_gene": null, "alias_name": [ "calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)" ], "gene_symbol": "TMEM63C", "hgnc_symbol": "TMEM63C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:77582911-77725838", "ensembl_id": "ENSG00000165548" } }, "GRch38": { "90": { "location": "14:77116568-77259495", "ensembl_id": "ENSG00000165548" } } }, "hgnc_date_symbol_changed": "2005-07-25" }, "entity_type": "gene", "entity_name": "TMEM63C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35718349" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spastic paraplegia 87, autosomal recessive, MIM# 619966" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.749", "version_created": "2026-04-12T14:10:53.388284+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CEV14", "Trip230", "GMAP-210", "GMAP210" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12305", "gene_name": "thyroid hormone receptor interactor 11", "omim_gene": [ "604505" ], "alias_name": [ "golgi-microtubule-associated-protein of 210 kDa" ], "gene_symbol": "TRIP11", "hgnc_symbol": "TRIP11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:92432335-92507240", "ensembl_id": "ENSG00000100815" } }, "GRch38": { "90": { "location": "14:91965991-92040896", "ensembl_id": "ENSG00000100815" } } }, "hgnc_date_symbol_changed": "1999-03-19" }, "entity_type": "gene", "entity_name": "TRIP11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Achondrogenesis, type IA 200600", "Achondrogenesis, type IA\t200600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:713", "gene_name": "arylsulfatase A", "omim_gene": [ "607574" ], "alias_name": [ "metachromatic leucodystrophy" ], "gene_symbol": "ARSA", "hgnc_symbol": "ARSA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:51061182-51066607", "ensembl_id": "ENSG00000100299" } }, "GRch38": { "90": { "location": "22:50622754-50628173", "ensembl_id": "ENSG00000100299" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ARSA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Metachromatic Leukodystrophy, 250100", "Metachromatic leukodystrophy (#250100)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "clinical trial" ], "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": [ "PIGEA14", "PIGEA-14", "Chibby", "Cby" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1307", "gene_name": "chibby family member 1, beta catenin antagonist", "omim_gene": [ "607757" ], "alias_name": [ "chibby CTNNB1-mediated transcription inhibitor" ], "gene_symbol": "CBY1", "hgnc_symbol": "CBY1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:39052641-39069859", "ensembl_id": "ENSG00000100211" } }, "GRch38": { "90": { "location": "22:38656636-38673854", "ensembl_id": "ENSG00000100211" } } }, "hgnc_date_symbol_changed": "2007-01-26" }, "entity_type": "gene", "entity_name": "CBY1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33131181", "25103236", "25220153" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "intellectual disability", "cerebellar ataxia", "molar tooth sign", "polydactyly", "Joubert syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SPG63" ], "biotype": "protein_coding", "hgnc_id": "HGNC:469", "gene_name": "adenosine monophosphate deaminase 2", "omim_gene": [ "102771" ], "alias_name": [ "AMPD isoform L" ], "gene_symbol": "AMPD2", "hgnc_symbol": "AMPD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:110158726-110174673", "ensembl_id": "ENSG00000116337" } }, "GRch38": { "90": { "location": "1:109616104-109632051", "ensembl_id": "ENSG00000116337" } } }, "hgnc_date_symbol_changed": "1990-03-06" }, "entity_type": "gene", "entity_name": "AMPD2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Other", "Expert Review Red", "Victorian Clinical Genetics Services", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 9, 615809" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CX32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4283", "gene_name": "gap junction protein beta 1", "omim_gene": [ "304040" ], "alias_name": [ "Charcot-Marie-Tooth neuropathy, X-linked", "connexin 32" ], "gene_symbol": "GJB1", "hgnc_symbol": "GJB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:70435044-70445366", "ensembl_id": "ENSG00000169562" } }, "GRch38": { "90": { "location": "X:71215194-71225516", "ensembl_id": "ENSG00000169562" } } }, "hgnc_date_symbol_changed": "1990-02-12" }, "entity_type": "gene", "entity_name": "GJB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8266101", "17100997", "17353473" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800", "MONDO:0010549", "HMSN" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSPB5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2389", "gene_name": "crystallin alpha B", "omim_gene": [ "123590" ], "alias_name": null, "gene_symbol": "CRYAB", "hgnc_symbol": "CRYAB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:111779289-111794446", "ensembl_id": "ENSG00000109846" } }, "GRch38": { "90": { "location": "11:111908565-111923722", "ensembl_id": "ENSG00000109846" } } }, "hgnc_date_symbol_changed": "1987-09-11" }, "entity_type": "gene", "entity_name": "CRYAB", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 21337604", "32420686" ], "evidence": [ "Expert Review Green", "Expert Review Amber", "Expert list", "Expert Review" ], "phenotypes": [ "Myopathy, myofibrillar, 2, MIM# 608810" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "VKCFD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4247", "gene_name": "gamma-glutamyl carboxylase", "omim_gene": [ "137167" ], "alias_name": [ "vitamin K-dependent gamma-carboxylase" ], "gene_symbol": "GGCX", "hgnc_symbol": "GGCX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:85771846-85788670", "ensembl_id": "ENSG00000115486" } }, "GRch38": { "90": { "location": "2:85544723-85561547", "ensembl_id": "ENSG00000115486" } } }, "hgnc_date_symbol_changed": "1994-07-04" }, "entity_type": "gene", "entity_name": "GGCX", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31727138" ], "evidence": [ "Expert Review Amber", "ClinGen" ], "phenotypes": [ "pulmonary arterial hypertension MONDO:0015924" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3095, "hash_id": null, "name": "Pulmonary Arterial Hypertension", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.", "status": "public", "version": "1.57", "version_created": "2026-04-07T13:46:27.864798+10:00", "relevant_disorders": [ "Pulmonary arterial hypertension", "HP:0002092" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MOCO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7193", "gene_name": "molybdenum cofactor synthesis 2", "omim_gene": [ "603708" ], "alias_name": null, "gene_symbol": "MOCS2", "hgnc_symbol": "MOCS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:52391509-52405893", "ensembl_id": "ENSG00000164172" } }, "GRch38": { "90": { "location": "5:53095679-53110063", "ensembl_id": "ENSG00000164172" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "MOCS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Molybdenum cofactor 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": [ "NAIC", "FLJ14728", "KIAA1988", "TEX292", "CIRHIN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1983", "gene_name": "UTP4, small subunit processome component", "omim_gene": [ "607456" ], "alias_name": [ "UTP4, small subunit (SSU) processome component, homolog (yeast)" ], "gene_symbol": "UTP4", "hgnc_symbol": "UTP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:69165194-69265033", "ensembl_id": "ENSG00000141076" } }, "GRch38": { "90": { "location": "16:69131291-69231130", "ensembl_id": "ENSG00000141076" } } }, "hgnc_date_symbol_changed": "2015-11-03" }, "entity_type": "gene", "entity_name": "UTP4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "North American Indian childhood cirrhosis" ], "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": [ "KIAA0078", "hHR21", "SCC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9811", "gene_name": "RAD21 cohesin complex component", "omim_gene": [ "606462" ], "alias_name": [ "sister chromatid cohesion 1", "kleisin" ], "gene_symbol": "RAD21", "hgnc_symbol": "RAD21", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:117858174-117887105", "ensembl_id": "ENSG00000164754" } }, "GRch38": { "90": { "location": "8:116845935-116874866", "ensembl_id": "ENSG00000164754" } } }, "hgnc_date_symbol_changed": "1996-06-12" }, "entity_type": "gene", "entity_name": "RAD21", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31334757", "31704779" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cornelia de Lange syndrome 4 614701" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3729, "hash_id": null, "name": "Hand and foot malformations", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.", "status": "public", "version": "0.89", "version_created": "2026-04-07T13:49:34.993963+10:00", "relevant_disorders": [ "Abnormal hand morphology", "HP:0005922; Abnormal foot morphology", "HP:0001760" ], "stats": { "number_of_genes": 101, "number_of_strs": 1, "number_of_regions": 5 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ShrmL", "SHRM", "KIAA1481", "APXL3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30422", "gene_name": "shroom family member 3", "omim_gene": [ "604570" ], "alias_name": null, "gene_symbol": "SHROOM3", "hgnc_symbol": "SHROOM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:77356253-77704406", "ensembl_id": "ENSG00000138771" } }, "GRch38": { "90": { "location": "4:76435100-76783253", "ensembl_id": "ENSG00000138771" } } }, "hgnc_date_symbol_changed": "2006-07-20" }, "entity_type": "gene", "entity_name": "SHROOM3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32621286" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Anencephaly", "cleft lip and palate" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC7199", "NgBR", "TANGO14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21042", "gene_name": "NUS1 dehydrodolichyl diphosphate synthase subunit", "omim_gene": [ "610463" ], "alias_name": [ "Nogo-B receptor", "transport and golgi organization 14 homolog (Drosophila)" ], "gene_symbol": "NUS1", "hgnc_symbol": "NUS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:117996665-118031803", "ensembl_id": "ENSG00000153989" } }, "GRch38": { "90": { "location": "6:117675502-117710640", "ensembl_id": "ENSG00000153989" } } }, "hgnc_date_symbol_changed": "2006-11-24" }, "entity_type": "gene", "entity_name": "NUS1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31656175", "29100083", "25066056" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation, type 1aa, MIM#617082" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Kir1.1", "ROMK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6255", "gene_name": "potassium voltage-gated channel subfamily J member 1", "omim_gene": [ "600359" ], "alias_name": null, "gene_symbol": "KCNJ1", "hgnc_symbol": "KCNJ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:128706210-128737268", "ensembl_id": "ENSG00000151704" } }, "GRch38": { "90": { "location": "11:128836315-128867373", "ensembl_id": "ENSG00000151704" } } }, "hgnc_date_symbol_changed": "1993-08-03" }, "entity_type": "gene", "entity_name": "KCNJ1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Bartter syndrome, type 2, MIM#241200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD49f" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6142", "gene_name": "integrin subunit alpha 6", "omim_gene": [ "147556" ], "alias_name": null, "gene_symbol": "ITGA6", "hgnc_symbol": "ITGA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:173292082-173371181", "ensembl_id": "ENSG00000091409" } }, "GRch38": { "90": { "location": "2:172427354-172506282", "ensembl_id": "ENSG00000091409" } } }, "hgnc_date_symbol_changed": "1991-08-06" }, "entity_type": "gene", "entity_name": "ITGA6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31502654", "27607025", "9158140", "34525201" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Epidermolysis bullosa, junctional, with pyloric stenosis MIM#226730" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "WDR140", "WDR10p", "SPG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13556", "gene_name": "intraflagellar transport 122", "omim_gene": [ "606045" ], "alias_name": null, "gene_symbol": "IFT122", "hgnc_symbol": "IFT122", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:129158968-129239198", "ensembl_id": "ENSG00000163913" } }, "GRch38": { "90": { "location": "3:129440036-129520507", "ensembl_id": "ENSG00000163913" } } }, "hgnc_date_symbol_changed": "2005-11-02" }, "entity_type": "gene", "entity_name": "IFT122", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20817137", "20493458", "23826986", "26792575", "29220510", "27681595" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cranioectodermal dysplasia 1, 218330 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6481", "gene_name": "laminin subunit alpha 1", "omim_gene": [ "150320" ], "alias_name": null, "gene_symbol": "LAMA1", "hgnc_symbol": "LAMA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:6941743-7117813", "ensembl_id": "ENSG00000101680" } }, "GRch38": { "90": { "location": "18:6941744-7117814", "ensembl_id": "ENSG00000101680" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "LAMA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24013853", "25105227", "26932191" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Poretti-Boltshauser syndrome, MIM #615960" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16808", "gene_name": "ubiquitin protein ligase E3 component n-recognin 1", "omim_gene": [ "605981" ], "alias_name": null, "gene_symbol": "UBR1", "hgnc_symbol": "UBR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:43235095-43398311", "ensembl_id": "ENSG00000159459" } }, "GRch38": { "90": { "location": "15:42942897-43106113", "ensembl_id": "ENSG00000159459" } } }, "hgnc_date_symbol_changed": "2002-01-25" }, "entity_type": "gene", "entity_name": "UBR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24599544", "18553553", "16311597" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Johanson-Blizzard syndrome MIM#243800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PDS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8818", "gene_name": "solute carrier family 26 member 4", "omim_gene": [ "605646" ], "alias_name": [ "pendrin" ], "gene_symbol": "SLC26A4", "hgnc_symbol": "SLC26A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:107301080-107358254", "ensembl_id": "ENSG00000091137" } }, "GRch38": { "90": { "location": "7:107660635-107717809", "ensembl_id": "ENSG00000091137" } } }, "hgnc_date_symbol_changed": "1997-10-27" }, "entity_type": "gene", "entity_name": "SLC26A4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24599119" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791)", "Pendred syndrome (MIM#274600)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "S2P" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15455", "gene_name": "membrane bound transcription factor peptidase, site 2", "omim_gene": [ "300294" ], "alias_name": [ "site-2 protease" ], "gene_symbol": "MBTPS2", "hgnc_symbol": "MBTPS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:21857754-21903542", "ensembl_id": "ENSG00000012174" } }, "GRch38": { "90": { "location": "X:21839636-21885424", "ensembl_id": "ENSG00000012174" } } }, "hgnc_date_symbol_changed": "2001-03-30" }, "entity_type": "gene", "entity_name": "MBTPS2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "IFAP syndrome with or without BRESHECK syndrome MIM#308205" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NACT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23089", "gene_name": "solute carrier family 13 member 5", "omim_gene": [ "608305" ], "alias_name": null, "gene_symbol": "SLC13A5", "hgnc_symbol": "SLC13A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:6588032-6616886", "ensembl_id": "ENSG00000141485" } }, "GRch38": { "90": { "location": "17:6684713-6713567", "ensembl_id": "ENSG00000141485" } } }, "hgnc_date_symbol_changed": "2003-09-09" }, "entity_type": "gene", "entity_name": "SLC13A5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29895383" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "for review" ], "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10603", "gene_name": "SCO1, cytochrome c oxidase assembly protein", "omim_gene": [ "603644" ], "alias_name": null, "gene_symbol": "SCO1", "hgnc_symbol": "SCO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:10583654-10601692", "ensembl_id": "ENSG00000133028" } }, "GRch38": { "90": { "location": "17:10672474-10698375", "ensembl_id": "ENSG00000133028" } } }, "hgnc_date_symbol_changed": "1998-07-03" }, "entity_type": "gene", "entity_name": "SCO1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Hepatic failure, early onset, and neurologic disorder" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DBA", "S19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10402", "gene_name": "ribosomal protein S19", "omim_gene": [ "603474" ], "alias_name": [ "Diamond-Blackfan anemia" ], "gene_symbol": "RPS19", "hgnc_symbol": "RPS19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:42363988-42376994", "ensembl_id": "ENSG00000105372" } }, "GRch38": { "90": { "location": "19:41859918-41872926", "ensembl_id": "ENSG00000105372" } } }, "hgnc_date_symbol_changed": "1998-07-22" }, "entity_type": "gene", "entity_name": "RPS19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Diamond-Blackfan anaemia, MIM#105650" ], "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": [ "RNASEHI", "RNHIA", "RNHL", "AGS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18518", "gene_name": "ribonuclease H2 subunit A", "omim_gene": [ "606034" ], "alias_name": null, "gene_symbol": "RNASEH2A", "hgnc_symbol": "RNASEH2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:12917394-12924452", "ensembl_id": "ENSG00000104889" } }, "GRch38": { "90": { "location": "19:12802063-12813638", "ensembl_id": "ENSG00000104889" } } }, "hgnc_date_symbol_changed": "2002-06-05" }, "entity_type": "gene", "entity_name": "RNASEH2A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "BabySeq Category A gene" ], "phenotypes": [ "Aicardi-Goutieres syndrome 4, MIM# 610333" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hGCMb" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4198", "gene_name": "glial cells missing homolog 2", "omim_gene": [ "603716" ], "alias_name": null, "gene_symbol": "GCM2", "hgnc_symbol": "GCM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:10873456-10882174", "ensembl_id": "ENSG00000124827" } }, "GRch38": { "90": { "location": "6:10873223-10881941", "ensembl_id": "ENSG00000124827" } } }, "hgnc_date_symbol_changed": "2002-09-27" }, "entity_type": "gene", "entity_name": "GCM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27745835, 20190276, 34967908, 35038313" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Expert list", "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperparathyroidism 4, OMIM #617343", "Hypoparathyroidism, familial isolated 2, OMIM #618883" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3993, "hash_id": null, "name": "Renal Tubulopathies and related disorders", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.", "status": "public", "version": "1.26", "version_created": "2026-03-30T10:01:51.458813+11:00", "relevant_disorders": [ "Renal tubular dysfunction", "HP:0000124; Nephrolithiasis", "HP:0000787; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 134, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hDIA1", "LFHL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2876", "gene_name": "diaphanous related formin 1", "omim_gene": [ "602121" ], "alias_name": null, "gene_symbol": "DIAPH1", "hgnc_symbol": "DIAPH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:140894583-140998622", "ensembl_id": "ENSG00000131504" } }, "GRch38": { "90": { "location": "5:141515016-141619055", "ensembl_id": "ENSG00000131504" } } }, "hgnc_date_symbol_changed": "1998-03-17" }, "entity_type": "gene", "entity_name": "DIAPH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27808407]", "26912466" ], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AMN", "ALDP", "adrenoleukodystrophy" ], "biotype": "protein_coding", "hgnc_id": "HGNC:61", "gene_name": "ATP binding cassette subfamily D member 1", "omim_gene": [ "300371" ], "alias_name": null, "gene_symbol": "ABCD1", "hgnc_symbol": "ABCD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:152990323-153010216", "ensembl_id": "ENSG00000101986" } }, "GRch38": { "90": { "location": "X:153724868-153744762", "ensembl_id": "ENSG00000101986" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ABCD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Adrenoleukodystrophy, 300100 (3)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KEN", "KIAA0402", "PCN", "PCNTB", "SCKL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16068", "gene_name": "pericentrin", "omim_gene": [ "605925" ], "alias_name": [ "kendrin", "Seckel syndrome 4" ], "gene_symbol": "PCNT", "hgnc_symbol": "PCNT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:47744036-47865682", "ensembl_id": "ENSG00000160299" } }, "GRch38": { "90": { "location": "21:46324122-46445769", "ensembl_id": "ENSG00000160299" } } }, "hgnc_date_symbol_changed": "2005-11-03" }, "entity_type": "gene", "entity_name": "PCNT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18174396", "12210304", "30922925", "33460028", "32557621", "32267100" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720", "MONDO:0008872" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9330", "gene_name": "polyglutamine binding protein 1", "omim_gene": [ "300463" ], "alias_name": null, "gene_symbol": "PQBP1", "hgnc_symbol": "PQBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48755195-48760420", "ensembl_id": "ENSG00000102103" } }, "GRch38": { "90": { "location": "X:48897912-48903143", "ensembl_id": "ENSG00000102103" } } }, "hgnc_date_symbol_changed": "1999-01-12" }, "entity_type": "gene", "entity_name": "PQBP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31840929", "14634649", "20410308", "19661183" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Renpenning syndrome MIM#309500" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC33407" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28494", "gene_name": "actin like 9", "omim_gene": null, "alias_name": null, "gene_symbol": "ACTL9", "hgnc_symbol": "ACTL9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:8807751-8809172", "ensembl_id": "ENSG00000181786" } }, "GRch38": { "90": { "location": "19:8697397-8698822", "ensembl_id": "ENSG00000181786" } } }, "hgnc_date_symbol_changed": "2009-05-15" }, "entity_type": "gene", "entity_name": "ACTL9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33626338", "38963606" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 53, MIM# 619258" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.143", "version_created": "2026-04-13T17:24:02.975530+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 265, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OSMRB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8507", "gene_name": "oncostatin M receptor", "omim_gene": [ "601743" ], "alias_name": null, "gene_symbol": "OSMR", "hgnc_symbol": "OSMR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:38845960-38945698", "ensembl_id": "ENSG00000145623" } }, "GRch38": { "90": { "location": "5:38845858-38945596", "ensembl_id": "ENSG00000145623" } } }, "hgnc_date_symbol_changed": "1999-02-17" }, "entity_type": "gene", "entity_name": "OSMR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19375894", "19528426", "25054142", "20507362", "19690585" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "primary cutaneous amyloidosis MONDO:0015301" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC23980", "DENNL72" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28337", "gene_name": "chromosome 9 open reading frame 72", "omim_gene": [ "614260" ], "alias_name": null, "gene_symbol": "C9orf72", "hgnc_symbol": "C9orf72", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:27546544-27573864", "ensembl_id": "ENSG00000147894" } }, "GRch38": { "90": { "location": "9:27546545-27573866", "ensembl_id": "ENSG00000147894" } } }, "hgnc_date_symbol_changed": "2004-01-06" }, "entity_type": "str", "entity_name": "C9orf72_FTDALS_GGGGCC", "confidence_level": "3", "penetrance": null, "publications": [ "25577942", "21944779", "21944778", "31779815" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "GGGGCC", "chromosome": "9", "grch37_coordinates": [ 27573427, 27573544 ], "grch38_coordinates": [ 27573529, 27573546 ], "normal_repeats": 25, "pathogenic_repeats": 60, "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": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "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": [] } }, { "gene_data": { "alias": [ "NCRNA00003" ], "biotype": "antisense_RNA", "hgnc_id": "HGNC:10561", "gene_name": "ATXN8 opposite strand (non-protein coding)", "omim_gene": [ "603680" ], "alias_name": [ "non-protein coding RNA 3" ], "gene_symbol": "ATXN8OS", "hgnc_symbol": "ATXN8OS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:70681345-70713561", "ensembl_id": "ENSG00000230223" } }, "GRch38": { "90": { "location": "13:70107213-70139429", "ensembl_id": "ENSG00000230223" } } }, "hgnc_date_symbol_changed": "2006-07-18" }, "entity_type": "str", "entity_name": "ATXN8OS_SCA8_CTG", "confidence_level": "3", "penetrance": null, "publications": [ "24285970", "20301445", "10192387" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spinocerebellar ataxia 8 MIM#608768" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CTG", "chromosome": "13", "grch37_coordinates": [ 70713486, 70713560 ], "grch38_coordinates": [ 70139354, 70139428 ], "normal_repeats": 50, "pathogenic_repeats": 80, "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": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "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": [] } } ] }