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GET /api/v1/entities/?format=api&page=126
{ "count": 36124, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=127", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=125", "results": [ { "gene_data": { "alias": [ "MGC10922", "DKFZP762D096", "NBIA4", "MPAN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25443", "gene_name": "chromosome 19 open reading frame 12", "omim_gene": [ "614297" ], "alias_name": [ "neurodegeneration with brain iron accumulation 4", "membrane protein-associated neurodegeneration" ], "gene_symbol": "C19orf12", "hgnc_symbol": "C19orf12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:30191721-30206364", "ensembl_id": "ENSG00000131943" } }, "GRch38": { "90": { "location": "19:29698886-29715789", "ensembl_id": "ENSG00000131943" } } }, "hgnc_date_symbol_changed": "2004-02-11" }, "entity_type": "gene", "entity_name": "C19orf12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23278385", "21981780", "23269600" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodegeneration with brain iron accumulation 4, MIM# 614298" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "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": [ "RANK", "CD265", "FEO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11908", "gene_name": "TNF receptor superfamily member 11a", "omim_gene": [ "603499" ], "alias_name": null, "gene_symbol": "TNFRSF11A", "hgnc_symbol": "TNFRSF11A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:59992520-60058516", "ensembl_id": "ENSG00000141655" } }, "GRch38": { "90": { "location": "18:62325287-62391292", "ensembl_id": "ENSG00000141655" } } }, "hgnc_date_symbol_changed": "1998-12-04" }, "entity_type": "gene", "entity_name": "TNFRSF11A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "18606301", "32048120" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Osteopetrosis, autosomal recessive 7 - MIM# 612301" ], "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": "0.250", "version_created": "2026-04-28T10:59:42.452256+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 158, "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": [ "TSP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11786", "gene_name": "thrombospondin 2", "omim_gene": [ "188061" ], "alias_name": null, "gene_symbol": "THBS2", "hgnc_symbol": "THBS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:169615875-169654139", "ensembl_id": "ENSG00000186340" } }, "GRch38": { "90": { "location": "6:169215780-169254044", "ensembl_id": "ENSG00000186340" } } }, "hgnc_date_symbol_changed": "1991-11-21" }, "entity_type": "gene", "entity_name": "THBS2", "confidence_level": "2", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "PMID: 38433265" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Ehlers-Danlos syndrome, classic type, 3, MIM# 620865" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 44, "hash_id": null, "name": "Aortopathy_Connective Tissue Disorders", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.", "status": "public", "version": "1.105", "version_created": "2026-02-05T18:09:24.690760+11:00", "relevant_disorders": [ "Aortic aneurysm", "HP:0004942;Joint dislocation", "HP:0001373;Cutis laxa", "HP:0000973; Ectopia lentis", "HP:0001083;Arachnodactyly", "HP:0001166" ], "stats": { "number_of_genes": 100, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11773", "gene_name": "transforming growth factor beta receptor 2", "omim_gene": [ "190182" ], "alias_name": null, "gene_symbol": "TGFBR2", "hgnc_symbol": "TGFBR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:30647994-30735634", "ensembl_id": "ENSG00000163513" } }, "GRch38": { "90": { "location": "3:30606502-30694142", "ensembl_id": "ENSG00000163513" } } }, "hgnc_date_symbol_changed": "1993-09-30" }, "entity_type": "gene", "entity_name": "TGFBR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28163941" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Loeys-Dietz syndrome 2, MIM# 610168" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1851" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22932", "gene_name": "GDP-mannose pyrophosphorylase B", "omim_gene": [ "615320" ], "alias_name": [ "mannose-1-phosphate guanyltransferase beta" ], "gene_symbol": "GMPPB", "hgnc_symbol": "GMPPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49754277-49761384", "ensembl_id": "ENSG00000173540" } }, "GRch38": { "90": { "location": "3:49716844-49723951", "ensembl_id": "ENSG00000173540" } } }, "hgnc_date_symbol_changed": "2005-01-10" }, "entity_type": "gene", "entity_name": "GMPPB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350)", "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351)", "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352)" ], "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": "1.88", "version_created": "2026-04-29T19:07:54.905474+10:00", "relevant_disorders": [ "Abnormal transferrin saturation", "HP:0040135" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Rb2", "p130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9894", "gene_name": "RB transcriptional corepressor like 2", "omim_gene": [ "180203" ], "alias_name": null, "gene_symbol": "RBL2", "hgnc_symbol": "RBL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:53467889-53525561", "ensembl_id": "ENSG00000103479" } }, "GRch38": { "90": { "location": "16:53433977-53491649", "ensembl_id": "ENSG00000103479" } } }, "hgnc_date_symbol_changed": "1994-01-17" }, "entity_type": "gene", "entity_name": "RBL2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33980986", "32105419", "9806916" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Severe motor and cognitive impairment", "Intellectual disability", "Brunet-Wagner neurodevelopmental syndrome MIM#619690" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 72, "hash_id": null, "name": "Cerebellar and Pontocerebellar Hypoplasia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.", "status": "public", "version": "1.100", "version_created": "2026-04-02T11:42:58.167964+11:00", "relevant_disorders": [ "Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879" ], "stats": { "number_of_genes": 122, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32685" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18592", "gene_name": "NIMA related kinase 10", "omim_gene": null, "alias_name": null, "gene_symbol": "NEK10", "hgnc_symbol": "NEK10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:27151576-27410951", "ensembl_id": "ENSG00000163491" } }, "GRch38": { "90": { "location": "3:27110085-27369460", "ensembl_id": "ENSG00000163491" } } }, "hgnc_date_symbol_changed": "2002-05-08" }, "entity_type": "gene", "entity_name": "NEK10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31959991" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Ciliary dyskinesia, primary, 44, MIM# 618781", "Bronchiectasis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.77", "version_created": "2026-04-23T20:31:13.525757+10:00", "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": [ "Beta2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20771", "gene_name": "tubulin beta 4B class IVb", "omim_gene": [ "602660" ], "alias_name": [ "class IVb beta-tubulin" ], "gene_symbol": "TUBB4B", "hgnc_symbol": "TUBB4B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:140135665-140138159", "ensembl_id": "ENSG00000188229" } }, "GRch38": { "90": { "location": "9:137241213-137243707", "ensembl_id": "ENSG00000188229" } } }, "hgnc_date_symbol_changed": "2011-10-10" }, "entity_type": "gene", "entity_name": "TUBB4B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "1.77", "version_created": "2026-04-23T20:31:13.525757+10:00", "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": [ "FLJ12571", "dyf-13", "DYF13", "IFT56" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21882", "gene_name": "tetratricopeptide repeat domain 26", "omim_gene": [ "617453" ], "alias_name": null, "gene_symbol": "TTC26", "hgnc_symbol": "TTC26", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:138818490-138876732", "ensembl_id": "ENSG00000105948" } }, "GRch38": { "90": { "location": "7:139133744-139191986", "ensembl_id": "ENSG00000105948" } } }, "hgnc_date_symbol_changed": "2006-03-17" }, "entity_type": "gene", "entity_name": "TTC26", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34177428", "32617964", "31595528", "24596149", "22718903" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534", "Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations" ], "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": [] }, { "gene_data": { "alias": [ "HSPC056", "DKFZP434A043", "GID5", "VID28" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24999", "gene_name": "armadillo repeat containing 8", "omim_gene": null, "alias_name": [ "GID complex subunit 5, VID28 homolog (S. cerevisiae)" ], "gene_symbol": "ARMC8", "hgnc_symbol": "ARMC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:137906109-138017231", "ensembl_id": "ENSG00000114098" } }, "GRch38": { "90": { "location": "3:138187248-138298389", "ensembl_id": "ENSG00000114098" } } }, "hgnc_date_symbol_changed": "2004-07-12" }, "entity_type": "gene", "entity_name": "ARMC8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Expert Review Red", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "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": [ "BP180" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2194", "gene_name": "collagen type XVII alpha 1 chain", "omim_gene": [ "113811" ], "alias_name": null, "gene_symbol": "COL17A1", "hgnc_symbol": "COL17A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:105791044-105845760", "ensembl_id": "ENSG00000065618" } }, "GRch38": { "90": { "location": "10:104031286-104086002", "ensembl_id": "ENSG00000065618" } } }, "hgnc_date_symbol_changed": "1993-09-27" }, "entity_type": "gene", "entity_name": "COL17A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27309958", "29708937", "25676728" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epithelial recurrent erosion dystrophy, MIM# 122400" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 91, "hash_id": null, "name": "Corneal Dystrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe corneal dystrophies are a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea, causing opacification. The corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities: (a). the anterior corneal dystrophies affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma, (b).the stromal corneal dystrophies affect the corneal stroma, (c). the posterior corneal dystrophies affect the Descemet membrane and the corneal endothelium. \r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Corneal Dystrophy' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.", "status": "public", "version": "1.21", "version_created": "2026-02-22T15:53:37.257206+11:00", "relevant_disorders": [ "Abnormal corneal morphology", "HP:0000481" ], "stats": { "number_of_genes": 33, "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": [ "TTCP20", "TCPZ", "Cctz", "HTR3", "TCP20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1620", "gene_name": "chaperonin containing TCP1 subunit 6A", "omim_gene": [ "104613" ], "alias_name": null, "gene_symbol": "CCT6A", "hgnc_symbol": "CCT6A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:56119323-56131682", "ensembl_id": "ENSG00000146731" } }, "GRch38": { "90": { "location": "7:56051630-56063989", "ensembl_id": "ENSG00000146731" } } }, "hgnc_date_symbol_changed": "1999-02-26" }, "entity_type": "gene", "entity_name": "CCT6A", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "39480921" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, CCT6A-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "ACS4", "LACS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3571", "gene_name": "acyl-CoA synthetase long chain family member 4", "omim_gene": [ "300157" ], "alias_name": [ "lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4" ], "gene_symbol": "ACSL4", "hgnc_symbol": "ACSL4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:108867473-108976632", "ensembl_id": "ENSG00000068366" } }, "GRch38": { "90": { "location": "X:109624244-109733403", "ensembl_id": "ENSG00000068366" } } }, "hgnc_date_symbol_changed": "2004-02-20" }, "entity_type": "gene", "entity_name": "ACSL4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11889465", "12525535" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, X-linked 63, MIM# 300387 XLD" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "HMT-1", "HMAT1", "CDG1K", "Mat-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18294", "gene_name": "ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase", "omim_gene": [ "605907" ], "alias_name": null, "gene_symbol": "ALG1", "hgnc_symbol": "ALG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:5083703-5137380", "ensembl_id": "ENSG00000033011" } }, "GRch38": { "90": { "location": "16:5033960-5087379", "ensembl_id": "ENSG00000033011" } } }, "hgnc_date_symbol_changed": "2003-10-15" }, "entity_type": "gene", "entity_name": "ALG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26931382" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ik, MIM# 608540" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "XPB", "BTF2", "RAD25", "TFIIH", "GTF2H" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3435", "gene_name": "ERCC excision repair 3, TFIIH core complex helicase subunit", "omim_gene": [ "133510" ], "alias_name": [ "xeroderma pigmentosum group B complementing" ], "gene_symbol": "ERCC3", "hgnc_symbol": "ERCC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:128014866-128051752", "ensembl_id": "ENSG00000163161" } }, "GRch38": { "90": { "location": "2:127257290-127294176", "ensembl_id": "ENSG00000163161" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ERCC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "2167179", "10447254", "16947863", "9012405", "32557569", "27004399" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Trichothiodystrophy 2, photosensitive, MIM# 616390", "Xeroderma pigmentosum, group B 61, MIM#0651" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "SIC-1", "EWSR2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3749", "gene_name": "Fli-1 proto-oncogene, ETS transcription factor", "omim_gene": [ "193067" ], "alias_name": null, "gene_symbol": "FLI1", "hgnc_symbol": "FLI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:128556430-128683162", "ensembl_id": "ENSG00000151702" } }, "GRch38": { "90": { "location": "11:128686535-128813267", "ensembl_id": "ENSG00000151702" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "FLI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10891501", "10981960", "24100448", "28255014", "26316623", "26494917" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bleeding disorder, platelet-type, 21 MONDO:0054577" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "CRF2-4", "CDW210B", "IL-10R2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5965", "gene_name": "interleukin 10 receptor subunit beta", "omim_gene": [ "123889" ], "alias_name": null, "gene_symbol": "IL10RB", "hgnc_symbol": "IL10RB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:34638663-34669539", "ensembl_id": "ENSG00000243646" } }, "GRch38": { "90": { "location": "21:33266358-33310187", "ensembl_id": "ENSG00000243646" } } }, "hgnc_date_symbol_changed": "1993-04-06" }, "entity_type": "gene", "entity_name": "IL10RB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19890111", "21519361", "35187668", "31096038" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "BBS17" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6741", "gene_name": "leucine zipper transcription factor like 1", "omim_gene": [ "606568" ], "alias_name": null, "gene_symbol": "LZTFL1", "hgnc_symbol": "LZTFL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:45864808-45957534", "ensembl_id": "ENSG00000163818" } }, "GRch38": { "90": { "location": "3:45823316-45916042", "ensembl_id": "ENSG00000163818" } } }, "hgnc_date_symbol_changed": "2000-06-16" }, "entity_type": "gene", "entity_name": "LZTFL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22510444", "23692385", "27312011", "22072986" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 17 (MIM#615994)" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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:11194", "gene_name": "SRY-box 18", "omim_gene": [ "601618" ], "alias_name": null, "gene_symbol": "SOX18", "hgnc_symbol": "SOX18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:62679076-62680994", "ensembl_id": "ENSG00000203883" } }, "GRch38": { "90": { "location": "20:64047582-64049641", "ensembl_id": "ENSG00000203883" } } }, "hgnc_date_symbol_changed": "2000-07-31" }, "entity_type": "gene", "entity_name": "SOX18", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12740761", "24697860", "2484451", "26148450", "33851505" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823", "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "KIAA1093" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29190", "gene_name": "trinucleotide repeat containing 6B", "omim_gene": [ "610740" ], "alias_name": null, "gene_symbol": "TNRC6B", "hgnc_symbol": "TNRC6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:40440821-40731812", "ensembl_id": "ENSG00000100354" } }, "GRch38": { "90": { "location": "22:40044817-40335808", "ensembl_id": "ENSG00000100354" } } }, "hgnc_date_symbol_changed": "2004-12-17" }, "entity_type": "gene", "entity_name": "TNRC6B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32152250", "28135719", "25363768", "27479843", "28959963", "25228304" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Global developmental delay with speech and behavioural abnormalities, MIM# 619243" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "VRL3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18084", "gene_name": "transient receptor potential cation channel subfamily V member 3", "omim_gene": [ "607066" ], "alias_name": null, "gene_symbol": "TRPV3", "hgnc_symbol": "TRPV3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:3413796-3461289", "ensembl_id": "ENSG00000167723" } }, "GRch38": { "90": { "location": "17:3510502-3557995", "ensembl_id": "ENSG00000167723" } } }, "hgnc_date_symbol_changed": "2002-07-05" }, "entity_type": "gene", "entity_name": "TRPV3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25285920", "22405088", "24452206" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Olmsted syndrome, MIM# 614594" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "smg-10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29029", "gene_name": "TELO2 interacting protein 1", "omim_gene": [ "614425" ], "alias_name": [ "smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)" ], "gene_symbol": "TTI1", "hgnc_symbol": "TTI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:36611409-36661870", "ensembl_id": "ENSG00000101407" } }, "GRch38": { "90": { "location": "20:37983007-38033468", "ensembl_id": "ENSG00000101407" } } }, "hgnc_date_symbol_changed": "2010-06-22" }, "entity_type": "gene", "entity_name": "TTI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26539891", "30315573" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM#\t620445" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "nNOS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7872", "gene_name": "nitric oxide synthase 1", "omim_gene": [ "163731" ], "alias_name": null, "gene_symbol": "NOS1", "hgnc_symbol": "NOS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:117645947-117889975", "ensembl_id": "ENSG00000089250" } }, "GRch38": { "90": { "location": "12:117208142-117452170", "ensembl_id": "ENSG00000089250" } } }, "hgnc_date_symbol_changed": "1992-06-09" }, "entity_type": "gene", "entity_name": "NOS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36197968" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism, MONDO:0018555" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "D1S155E", "UNR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29905", "gene_name": "cold shock domain containing E1", "omim_gene": [ "191510" ], "alias_name": [ "upstream of NRAS" ], "gene_symbol": "CSDE1", "hgnc_symbol": "CSDE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:115259534-115301297", "ensembl_id": "ENSG00000009307" } }, "GRch38": { "90": { "location": "1:114716913-114758676", "ensembl_id": "ENSG00000009307" } } }, "hgnc_date_symbol_changed": "2005-07-26" }, "entity_type": "gene", "entity_name": "CSDE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31579823" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, CSDE1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "PDZ-GEF1", "RA-GEF", "DKFZP586O1422", "KIAA0313" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16854", "gene_name": "Rap guanine nucleotide exchange factor 2", "omim_gene": [ "609530" ], "alias_name": [ "Rap GEP" ], "gene_symbol": "RAPGEF2", "hgnc_symbol": "RAPGEF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:160025330-160281321", "ensembl_id": "ENSG00000109756" } }, "GRch38": { "90": { "location": "4:159104178-159360169", "ensembl_id": "ENSG00000109756" } } }, "hgnc_date_symbol_changed": "2004-03-01" }, "entity_type": "gene", "entity_name": "RAPGEF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41556274", "30636905" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092", "amyotrophic lateral sclerosis MONDO:0004976" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "STR" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "DKFZP566N034", "SV31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25380", "gene_name": "transmembrane protein 163", "omim_gene": null, "alias_name": null, "gene_symbol": "TMEM163", "hgnc_symbol": "TMEM163", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:135213330-135476570", "ensembl_id": "ENSG00000152128" } }, "GRch38": { "90": { "location": "2:134455759-134719000", "ensembl_id": "ENSG00000152128" } } }, "hgnc_date_symbol_changed": "2006-07-04" }, "entity_type": "gene", "entity_name": "TMEM163", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35953447" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hypomyelinating leukodystrophy, MONDO:0019046" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "KIAA1503", "FLJ46675" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2948", "gene_name": "dynein axonemal heavy chain 2", "omim_gene": [ "603333" ], "alias_name": null, "gene_symbol": "DNAH2", "hgnc_symbol": "DNAH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7620672-7737062", "ensembl_id": "ENSG00000183914" } }, "GRch38": { "90": { "location": "17:7717354-7833744", "ensembl_id": "ENSG00000183914" } } }, "hgnc_date_symbol_changed": "1995-11-15" }, "entity_type": "gene", "entity_name": "DNAH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30811583" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spermatogenic failure 45, MIM#\t619094" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "FREAC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3810", "gene_name": "forkhead box F2", "omim_gene": [ "603250" ], "alias_name": null, "gene_symbol": "FOXF2", "hgnc_symbol": "FOXF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:1390069-1395832", "ensembl_id": "ENSG00000137273" } }, "GRch38": { "90": { "location": "6:1389834-1395597", "ensembl_id": "ENSG00000137273" } } }, "hgnc_date_symbol_changed": "1995-06-05" }, "entity_type": "gene", "entity_name": "FOXF2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30561639", "22022403" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "profound sensorineural hearing loss (SNHL)", "cochlea malformations", "incomplete partition type I anomaly of the cochlea" ], "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": "1.4851", "version_created": "2026-04-30T15:45:56.907744+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6024, "number_of_strs": 43, "number_of_regions": 9 }, "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": [ "hcp-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1857", "gene_name": "centromere protein F", "omim_gene": [ "600236" ], "alias_name": [ "mitosin" ], "gene_symbol": "CENPF", "hgnc_symbol": "CENPF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:214776538-214837931", "ensembl_id": "ENSG00000117724" } }, "GRch38": { "90": { "location": "1:214603195-214664588", "ensembl_id": "ENSG00000117724" } } }, "hgnc_date_symbol_changed": "1994-07-04" }, "entity_type": "gene", "entity_name": "CENPF", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "25564561", "28407396", "27300082", "31953238" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Stromme syndrome\t(MIM#243605)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.434", "version_created": "2026-04-30T15:02:27.868954+10:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 384, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CMT2N", "AlaRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20", "gene_name": "alanyl-tRNA synthetase", "omim_gene": [ "601065" ], "alias_name": [ "alanine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "AARS", "hgnc_symbol": "AARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:70286198-70323446", "ensembl_id": "ENSG00000090861" } }, "GRch38": { "90": { "location": "16:70252295-70289543", "ensembl_id": "ENSG00000090861" } } }, "hgnc_date_symbol_changed": "1995-07-11" }, "entity_type": "gene", "entity_name": "AARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28493438", "25817015" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 29, MIM# 616339" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.434", "version_created": "2026-04-30T15:02:27.868954+10:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 384, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SH3P9", "AMPH2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1052", "gene_name": "bridging integrator 1", "omim_gene": [ "601248" ], "alias_name": [ "amphiphysin II" ], "gene_symbol": "BIN1", "hgnc_symbol": "BIN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:127805603-127864931", "ensembl_id": "ENSG00000136717" } }, "GRch38": { "90": { "location": "2:127048027-127107355", "ensembl_id": "ENSG00000136717" } } }, "hgnc_date_symbol_changed": "2000-05-19" }, "entity_type": "gene", "entity_name": "BIN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17676042", "29950440", "20476667", "20142620", "21129173", "23754947", "25260562", "27854204" ], "evidence": [ "Expert Review Green", "Other", "Expert Review Green", "Expert list" ], "phenotypes": [ "Centronuclear myopathy 2 (MONDO: 0009709", "MIM#255200)" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 141, "hash_id": null, "name": "Muscular dystrophy and myopathy_Paediatric", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.122", "version_created": "2026-04-02T11:45:25.115390+11:00", "relevant_disorders": [ "Muscular dystrophy", "HP:0003560; Elevated circulating creatine kinase concentration", "HP:0003236; Myopathy", "HP:0003198" ], "stats": { "number_of_genes": 146, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC26963", "SMS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28395", "gene_name": "sphingomyelin synthase 2", "omim_gene": [ "611574" ], "alias_name": null, "gene_symbol": "SGMS2", "hgnc_symbol": "SGMS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:108745719-108836203", "ensembl_id": "ENSG00000164023" } }, "GRch38": { "90": { "location": "4:107824563-107915047", "ensembl_id": "ENSG00000164023" } } }, "hgnc_date_symbol_changed": "2007-03-15" }, "entity_type": "gene", "entity_name": "SGMS2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30779713", "32028018" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 150, "hash_id": null, "name": "Osteopetrosis", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.", "status": "public", "version": "1.0", "version_created": "2025-12-22T12:45:57.007049+11:00", "relevant_disorders": [ "Increased bone mineral density", "HP:0011001" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CATCH22" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11592", "gene_name": "T-box 1", "omim_gene": [ "602054" ], "alias_name": null, "gene_symbol": "TBX1", "hgnc_symbol": "TBX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:19744226-19771116", "ensembl_id": "ENSG00000184058" } }, "GRch38": { "90": { "location": "22:19756703-19783593", "ensembl_id": "ENSG00000184058" } } }, "hgnc_date_symbol_changed": "1997-05-15" }, "entity_type": "gene", "entity_name": "TBX1", "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": 160, "hash_id": null, "name": "Pierre Robin Sequence", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.64", "version_created": "2026-04-12T14:13:00.975329+10:00", "relevant_disorders": [ "Pierre Robin sequence", "HP:0000201" ], "stats": { "number_of_genes": 55, "number_of_strs": 1, "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:449", "gene_name": "ALX homeobox 3", "omim_gene": [ "606014" ], "alias_name": null, "gene_symbol": "ALX3", "hgnc_symbol": "ALX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:110602616-110613322", "ensembl_id": "ENSG00000156150" } }, "GRch38": { "90": { "location": "1:110059994-110070700", "ensembl_id": "ENSG00000156150" } } }, "hgnc_date_symbol_changed": "1998-04-08" }, "entity_type": "gene", "entity_name": "ALX3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 160, "hash_id": null, "name": "Pierre Robin Sequence", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.64", "version_created": "2026-04-12T14:13:00.975329+10:00", "relevant_disorders": [ "Pierre Robin sequence", "HP:0000201" ], "stats": { "number_of_genes": 55, "number_of_strs": 1, "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": [ "SMAD8", "SMAD8/9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6774", "gene_name": "SMAD family member 9", "omim_gene": [ "603295" ], "alias_name": null, "gene_symbol": "SMAD9", "hgnc_symbol": "SMAD9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:37418968-37494902", "ensembl_id": "ENSG00000120693" } }, "GRch38": { "90": { "location": "13:36844831-36920765", "ensembl_id": "ENSG00000120693" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "SMAD9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29844917", "21920918", "19211612", "21898662" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Expert list", "Expert list" ], "phenotypes": [ "Pulmonary hypertension, primary, 2 MIM#615342" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 162, "hash_id": null, "name": "Pulmonary Fibrosis_Interstitial Lung Disease", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.", "status": "public", "version": "1.11", "version_created": "2026-04-28T14:26:42.495816+10:00", "relevant_disorders": [ "Pulmonary fibrosis", "HP:0002206; Abnormal pulmonary interstitial morphology", "HP:0006530" ], "stats": { "number_of_genes": 98, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": [ "9988267", "10590074" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diamond-Blackfan anaemia 1, MIM# 105650", "MONDO:0007110" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 163, "hash_id": null, "name": "Radial Ray Abnormalities", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.22", "version_created": "2026-04-22T15:49:55.738465+10:00", "relevant_disorders": [ "Abnormality of radial ray", "HP:0410049" ], "stats": { "number_of_genes": 62, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22490", "CSPP", "JBTS21" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26193", "gene_name": "centrosome and spindle pole associated protein 1", "omim_gene": [ "611654" ], "alias_name": null, "gene_symbol": "CSPP1", "hgnc_symbol": "CSPP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:67974661-68108498", "ensembl_id": "ENSG00000104218" } }, "GRch38": { "90": { "location": "8:67062426-67196263", "ensembl_id": "ENSG00000104218" } } }, "hgnc_date_symbol_changed": "2005-09-06" }, "entity_type": "gene", "entity_name": "CSPP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24360808" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 21, MIM# 615636", "MONDO:0014288" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 179, "hash_id": null, "name": "Skeletal Ciliopathies", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.", "status": "public", "version": "1.23", "version_created": "2026-02-26T20:48:41.390236+11:00", "relevant_disorders": [ "Short rib", "HP:0000773; Polydactyly", "HP:0010442; Bell-shaped thorax", "HP:0001591" ], "stats": { "number_of_genes": 37, "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": "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:4878", "gene_name": "hexosaminidase subunit alpha", "omim_gene": [ "606869" ], "alias_name": [ "Tay Sachs disease", "GM2 gangliosidosis", "beta-hexosaminidase subunit alpha" ], "gene_symbol": "HEXA", "hgnc_symbol": "HEXA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:72635775-72668817", "ensembl_id": "ENSG00000213614" } }, "GRch38": { "90": { "location": "15:72340919-72376476", "ensembl_id": "ENSG00000213614" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HEXA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "GM2-gangliosidosis, several forms, MIM# 272800", "Tay-Sachs disease, MIM# 272800", "MONDO:0010100" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 181, "hash_id": null, "name": "Lysosomal Storage Disorder", "disease_group": "Metabolic conditions", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.", "status": "public", "version": "1.31", "version_created": "2026-03-31T16:05:25.488597+11:00", "relevant_disorders": [ "Lysosomal storage disorder", "MONDO:0002561; Visceromegaly", "HP:0003271" ], "stats": { "number_of_genes": 80, "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": [ "PCDGF", "PGRN", "CLN11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4601", "gene_name": "granulin precursor", "omim_gene": [ "138945" ], "alias_name": [ "progranulin" ], "gene_symbol": "GRN", "hgnc_symbol": "GRN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42422614-42430470", "ensembl_id": "ENSG00000030582" } }, "GRch38": { "90": { "location": "17:44345086-44353102", "ensembl_id": "ENSG00000030582" } } }, "hgnc_date_symbol_changed": "1992-11-30" }, "entity_type": "gene", "entity_name": "GRN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "37981505", "38347588", "29884839" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "neuronal ceroid lipofuscinosis MONDO:0016295", "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 181, "hash_id": null, "name": "Lysosomal Storage Disorder", "disease_group": "Metabolic conditions", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.", "status": "public", "version": "1.31", "version_created": "2026-03-31T16:05:25.488597+11:00", "relevant_disorders": [ "Lysosomal storage disorder", "MONDO:0002561; Visceromegaly", "HP:0003271" ], "stats": { "number_of_genes": 80, "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": [ "CI-24k" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7717", "gene_name": "NADH:ubiquinone oxidoreductase core subunit V2", "omim_gene": [ "600532" ], "alias_name": [ "complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial" ], "gene_symbol": "NDUFV2", "hgnc_symbol": "NDUFV2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:9102628-9134343", "ensembl_id": "ENSG00000178127" } }, "GRch38": { "90": { "location": "18:9102630-9134345", "ensembl_id": "ENSG00000178127" } } }, "hgnc_date_symbol_changed": "1994-09-07" }, "entity_type": "gene", "entity_name": "NDUFV2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33811136", "34405929", "12754703", "26008862", "30770271", "19167255" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229" ], "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": "1.414", "version_created": "2026-04-29T19:08:58.015652+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1157, "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": [ "OCTN2", "SCD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10969", "gene_name": "solute carrier family 22 member 5", "omim_gene": [ "603377" ], "alias_name": null, "gene_symbol": "SLC22A5", "hgnc_symbol": "SLC22A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:131705444-131731306", "ensembl_id": "ENSG00000197375" } }, "GRch38": { "90": { "location": "5:132369752-132395614", "ensembl_id": "ENSG00000197375" } } }, "hgnc_date_symbol_changed": "1998-07-16" }, "entity_type": "gene", "entity_name": "SLC22A5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33005244" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intractable epilepsy" ], "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": "1.414", "version_created": "2026-04-29T19:08:58.015652+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1157, "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:2551", "gene_name": "cullin 1", "omim_gene": [ "603134" ], "alias_name": null, "gene_symbol": "CUL1", "hgnc_symbol": "CUL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:148395006-148498128", "ensembl_id": "ENSG00000055130" } }, "GRch38": { "90": { "location": "7:148697914-148801036", "ensembl_id": "ENSG00000055130" } } }, "hgnc_date_symbol_changed": "1998-10-29" }, "entity_type": "gene", "entity_name": "CUL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 41189326" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, CUL1-related" ], "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": "1.414", "version_created": "2026-04-29T19:08:58.015652+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1157, "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": [ "trnN" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7493", "gene_name": "mitochondrially encoded tRNA asparagine", "omim_gene": [ "590010" ], "alias_name": null, "gene_symbol": "MT-TN", "hgnc_symbol": "MT-TN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:5657-5729", "ensembl_id": "ENSG00000210135" } }, "GRch38": { "90": { "location": "MT:5657-5729", "ensembl_id": "ENSG00000210135" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mitochondrial myopathy" ], "mode_of_inheritance": "MITOCHONDRIAL", "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": "1.23", "version_created": "2026-04-30T15:32:02.669324+10:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 439, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10914", "gene_name": "solute carrier family 12 member 6", "omim_gene": [ "604878" ], "alias_name": null, "gene_symbol": "SLC12A6", "hgnc_symbol": "SLC12A6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:34525460-34630261", "ensembl_id": "ENSG00000140199" } }, "GRch38": { "90": { "location": "15:34229996-34338060", "ensembl_id": "ENSG00000140199" } } }, "hgnc_date_symbol_changed": "1999-05-25" }, "entity_type": "gene", "entity_name": "SLC12A6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31439721", "27485015", "16606917", "21628467", "12368912", "17893295" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000" ], "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": [ "DKFZP564I122", "cblC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24525", "gene_name": "methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria", "omim_gene": [ "609831" ], "alias_name": null, "gene_symbol": "MMACHC", "hgnc_symbol": "MMACHC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45965725-45976739", "ensembl_id": "ENSG00000132763" } }, "GRch38": { "90": { "location": "1:45500053-45513382", "ensembl_id": "ENSG00000132763" } } }, "hgnc_date_symbol_changed": "2006-01-12" }, "entity_type": "gene", "entity_name": "MMACHC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "XPO3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12826", "gene_name": "exportin for tRNA", "omim_gene": [ "603180" ], "alias_name": null, "gene_symbol": "XPOT", "hgnc_symbol": "XPOT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:64798130-64844907", "ensembl_id": "ENSG00000184575" } }, "GRch38": { "90": { "location": "12:64404350-64451127", "ensembl_id": "ENSG00000184575" } } }, "hgnc_date_symbol_changed": "1999-09-28" }, "entity_type": "gene", "entity_name": "XPOT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10.64898/2026.01.28.26344748" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Syndromic disease, MONDO:0002254" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "preprint" ], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ32670", "LH2D1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26521", "gene_name": "lipoxygenase homology domains 1", "omim_gene": [ "613072" ], "alias_name": null, "gene_symbol": "LOXHD1", "hgnc_symbol": "LOXHD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:44056935-44236996", "ensembl_id": "ENSG00000167210" } }, "GRch38": { "90": { "location": "18:46476972-46657033", "ensembl_id": "ENSG00000167210" } } }, "hgnc_date_symbol_changed": "2004-04-30" }, "entity_type": "gene", "entity_name": "LOXHD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19732867", "25792669" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Deafness Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Deafness, autosomal recessive 77, MIM# 613079" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HS1BP1", "HCLSBP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16915", "gene_name": "HCLS1 associated protein X-1", "omim_gene": [ "605998" ], "alias_name": [ "HCLS1 (and PKD2) associated protein" ], "gene_symbol": "HAX1", "hgnc_symbol": "HAX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:154244987-154248351", "ensembl_id": "ENSG00000143575" } }, "GRch38": { "90": { "location": "1:154272511-154275875", "ensembl_id": "ENSG00000143575" } } }, "hgnc_date_symbol_changed": "2005-05-19" }, "entity_type": "gene", "entity_name": "HAX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17187068", "18611981", "19036076" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738", "Kostmann syndrome MONDO:0012548" ], "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": [ "Tim-3", "TIM3", "FLJ14428", "TIMD3", "CD366" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18437", "gene_name": "hepatitis A virus cellular receptor 2", "omim_gene": [ "606652" ], "alias_name": [ "T-cell immunoglobulin mucin family member 3" ], "gene_symbol": "HAVCR2", "hgnc_symbol": "HAVCR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:156512843-156569880", "ensembl_id": "ENSG00000135077" } }, "GRch38": { "90": { "location": "5:157085832-157142869", "ensembl_id": "ENSG00000135077" } } }, "hgnc_date_symbol_changed": "2002-12-04" }, "entity_type": "gene", "entity_name": "HAVCR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30374066", "30792187" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Expert list" ], "phenotypes": [ "T-cell lymphoma, subcutaneous panniculitis-like, MIM#\t618398" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Ten-M3", "KIAA1455" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29944", "gene_name": "teneurin transmembrane protein 3", "omim_gene": [ "610083" ], "alias_name": null, "gene_symbol": "TENM3", "hgnc_symbol": "TENM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:183065140-183724177", "ensembl_id": "ENSG00000218336" } }, "GRch38": { "90": { "location": "4:182143987-182803024", "ensembl_id": "ENSG00000218336" } } }, "hgnc_date_symbol_changed": "2012-10-02" }, "entity_type": "gene", "entity_name": "TENM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30513139", "22766609", "27103084", "29753094" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Microphthalmia, syndromic 15, MIM#615145", "coloboma" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "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": [ "27604308", "10053004" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Molybdenum cofactor deficiency B MIM#252160", "Disorders of molybdenum cofactor metabolism" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "FOR", "WOX1", "SDR41C1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12799", "gene_name": "WW domain containing oxidoreductase", "omim_gene": [ "605131" ], "alias_name": [ "short chain dehydrogenase/reductase family 41C, member 1" ], "gene_symbol": "WWOX", "hgnc_symbol": "WWOX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:78133310-79246564", "ensembl_id": "ENSG00000186153" } }, "GRch38": { "90": { "location": "16:78099413-79212667", "ensembl_id": "ENSG00000186153" } } }, "hgnc_date_symbol_changed": "2000-07-31" }, "entity_type": "gene", "entity_name": "WWOX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25411445", "24369382" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "developmental and epileptic encephalopathy, 28 MONDO:0014533", "autosomal recessive spinocerebellar ataxia 12 MONDO:0013687" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "FBP", "RAB-14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16524", "gene_name": "RAB14, member RAS oncogene family", "omim_gene": [ "612673" ], "alias_name": [ "F protein-binding protein 1", "bA165P4.3 (member RAS oncogene family)", "small GTP binding protein RAB14" ], "gene_symbol": "RAB14", "hgnc_symbol": "RAB14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:123940415-123985292", "ensembl_id": "ENSG00000119396" } }, "GRch38": { "90": { "location": "9:121178137-121223014", "ensembl_id": "ENSG00000119396" } } }, "hgnc_date_symbol_changed": "2001-09-14" }, "entity_type": "gene", "entity_name": "RAB14", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33057194" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, RAB14-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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "ARSACS", "KIAA0730", "DKFZp686B15167", "DNAJC29", "SPAX6", "PPP1R138" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10519", "gene_name": "sacsin molecular chaperone", "omim_gene": [ "604490" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 138" ], "gene_symbol": "SACS", "hgnc_symbol": "SACS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:23902965-24007841", "ensembl_id": "ENSG00000151835" } }, "GRch38": { "90": { "location": "13:23328826-23411513", "ensembl_id": "ENSG00000151835" } } }, "hgnc_date_symbol_changed": "1999-11-19" }, "entity_type": "gene", "entity_name": "SACS", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28843771", "20876471", "28658676", "27871429" ], "evidence": [ "Expert Review Amber", "Genetic Health Queensland" ], "phenotypes": [ "Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "KIAA1605", "AD035", "DKFZp762K054" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18986", "gene_name": "glucosylceramidase beta 2", "omim_gene": [ "609471" ], "alias_name": [ "bile acid beta-glucosidase", "non-lysosomal glucosylceramidase" ], "gene_symbol": "GBA2", "hgnc_symbol": "GBA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:35736863-35749983", "ensembl_id": "ENSG00000070610" } }, "GRch38": { "90": { "location": "9:35736866-35749228", "ensembl_id": "ENSG00000070610" } } }, "hgnc_date_symbol_changed": "2002-07-25" }, "entity_type": "gene", "entity_name": "GBA2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Spastic paraplegia 46, autosomal recessive, MIM#614409" ], "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": "1.780", "version_created": "2026-04-30T15:03:16.542762+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2529, "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": [ "EIF2B", "EIF-2Bbeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3258", "gene_name": "eukaryotic translation initiation factor 2B subunit beta", "omim_gene": [ "606454" ], "alias_name": null, "gene_symbol": "EIF2B2", "hgnc_symbol": "EIF2B2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:75469614-75476292", "ensembl_id": "ENSG00000119718" } }, "GRch38": { "90": { "location": "14:75002911-75012366", "ensembl_id": "ENSG00000119718" } } }, "hgnc_date_symbol_changed": "1998-10-16" }, "entity_type": "gene", "entity_name": "EIF2B2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Leukoencephalopathy with vanishing white matter MIM#603896" ], "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": [ "hdhc11", "DHC2", "DHC1b", "DYH1B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2962", "gene_name": "dynein cytoplasmic 2 heavy chain 1", "omim_gene": [ "603297" ], "alias_name": null, "gene_symbol": "DYNC2H1", "hgnc_symbol": "DYNC2H1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:102980160-103350591", "ensembl_id": "ENSG00000187240" } }, "GRch38": { "90": { "location": "11:103109431-103479863", "ensembl_id": "ENSG00000187240" } } }, "hgnc_date_symbol_changed": "2005-11-24" }, "entity_type": "gene", "entity_name": "DYNC2H1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32753734" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "non-syndromic retinitis pigmentosa" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "iPLA2", "PNPLA9", "PARK14", "iPLA2beta", "NBIA2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9039", "gene_name": "phospholipase A2 group VI", "omim_gene": [ "603604" ], "alias_name": [ "neurodegeneration with brain iron accumulation 2" ], "gene_symbol": "PLA2G6", "hgnc_symbol": "PLA2G6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:38507502-38601697", "ensembl_id": "ENSG00000184381" } }, "GRch38": { "90": { "location": "22:38111495-38205690", "ensembl_id": "ENSG00000184381" } } }, "hgnc_date_symbol_changed": "1998-09-07" }, "entity_type": "gene", "entity_name": "PLA2G6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Parkinson disease 14, autosomal recessive 612953", "PLA2G6-associated neurodegeneration", "Neurodegeneration with brain iron accumulation 2B 610217", "Infantile neuroaxonal dystrophy 1 256600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.346", "version_created": "2026-04-29T13:58:21.830729+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NF-E1", "DELTA", "UCRBP", "YIN-YANG-1", "INO80S" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12856", "gene_name": "YY1 transcription factor", "omim_gene": [ "600013" ], "alias_name": [ "INO80 complex subunit S", "Yin and Yang 1 protein" ], "gene_symbol": "YY1", "hgnc_symbol": "YY1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:100704635-100749129", "ensembl_id": "ENSG00000100811" } }, "GRch38": { "90": { "location": "14:100238298-100282792", "ensembl_id": "ENSG00000100811" } } }, "hgnc_date_symbol_changed": "1993-09-17" }, "entity_type": "gene", "entity_name": "YY1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Gabriele-de Vries syndrome 617557" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.346", "version_created": "2026-04-29T13:58:21.830729+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "COQ8", "SCAR9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16812", "gene_name": "coenzyme Q8A", "omim_gene": [ "606980" ], "alias_name": [ "coenzyme Q8 homolog (yeast)" ], "gene_symbol": "COQ8A", "hgnc_symbol": "COQ8A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:227085237-227175246", "ensembl_id": "ENSG00000163050" } }, "GRch38": { "90": { "location": "1:226897536-226987545", "ensembl_id": "ENSG00000163050" } } }, "hgnc_date_symbol_changed": "2016-07-07" }, "entity_type": "gene", "entity_name": "COQ8A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32337771" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 4, MIM#\t612016" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.346", "version_created": "2026-04-29T13:58:21.830729+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ13881", "KIAA2034", "MHC16", "MYH17" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23212", "gene_name": "myosin heavy chain 14", "omim_gene": [ "608568" ], "alias_name": null, "gene_symbol": "MYH14", "hgnc_symbol": "MYH14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50691443-50813802", "ensembl_id": "ENSG00000105357" } }, "GRch38": { "90": { "location": "19:50188186-50310545", "ensembl_id": "ENSG00000105357" } } }, "hgnc_date_symbol_changed": "2003-10-15" }, "entity_type": "gene", "entity_name": "MYH14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21480433", "35274842", "31231018", "27875632" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HB9", "HOXHB9", "SCRA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4979", "gene_name": "motor neuron and pancreas homeobox 1", "omim_gene": [ "142994" ], "alias_name": null, "gene_symbol": "MNX1", "hgnc_symbol": "MNX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:156786745-156803345", "ensembl_id": "ENSG00000130675" } }, "GRch38": { "90": { "location": "7:156994051-157010651", "ensembl_id": "ENSG00000130675" } } }, "hgnc_date_symbol_changed": "2007-08-09" }, "entity_type": "gene", "entity_name": "MNX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24411943", "23562494", "26534984" ], "evidence": [ "Expert Review Green", "UKGTN" ], "phenotypes": [ "Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3093, "hash_id": null, "name": "Monogenic Diabetes", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).", "status": "public", "version": "0.224", "version_created": "2026-04-06T18:03:06.439122+10:00", "relevant_disorders": [ "Diabetes mellitus", "HP:0000819" ], "stats": { "number_of_genes": 109, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CSA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3439", "gene_name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit", "omim_gene": [ "609412" ], "alias_name": null, "gene_symbol": "ERCC8", "hgnc_symbol": "ERCC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:60169658-60240900", "ensembl_id": "ENSG00000049167" } }, "GRch38": { "90": { "location": "5:60873831-60945073", "ensembl_id": "ENSG00000049167" } } }, "hgnc_date_symbol_changed": "1995-02-07" }, "entity_type": "gene", "entity_name": "ERCC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26204423" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cockayne syndrome, type A MIM#216400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3099, "hash_id": null, "name": "Syndromic Retinopathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.", "status": "public", "version": "0.259", "version_created": "2026-04-29T17:42:46.611968+10:00", "relevant_disorders": [ "Retinopathy", "HP:0000488" ], "stats": { "number_of_genes": 139, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SEMP1", "ILVASC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2032", "gene_name": "claudin 1", "omim_gene": [ "603718" ], "alias_name": [ "senescence-associated epithelial membrane protein 1" ], "gene_symbol": "CLDN1", "hgnc_symbol": "CLDN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:190023490-190040264", "ensembl_id": "ENSG00000163347" } }, "GRch38": { "90": { "location": "3:190305701-190322475", "ensembl_id": "ENSG00000163347" } } }, "hgnc_date_symbol_changed": "1998-11-19" }, "entity_type": "gene", "entity_name": "CLDN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC4276", "ISA1", "hIscA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28660", "gene_name": "iron-sulfur cluster assembly 1", "omim_gene": [ "611006" ], "alias_name": null, "gene_symbol": "ISCA1", "hgnc_symbol": "ISCA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:88879461-88897676", "ensembl_id": "ENSG00000135070" } }, "GRch38": { "90": { "location": "9:86264546-86283102", "ensembl_id": "ENSG00000135070" } } }, "hgnc_date_symbol_changed": "2007-01-18" }, "entity_type": "gene", "entity_name": "ISCA1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28356563", "32092383", "31016283", "30113620", "30105122" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Multiple mitochondrial dysfunctions syndrome 5, MIM#\t617613" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "for review" ], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DRN3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12269", "gene_name": "three prime repair exonuclease 1", "omim_gene": [ "606609" ], "alias_name": null, "gene_symbol": "TREX1", "hgnc_symbol": "TREX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:48506445-48509044", "ensembl_id": "ENSG00000213689" } }, "GRch38": { "90": { "location": "3:48465811-48467645", "ensembl_id": "ENSG00000213689" } } }, "hgnc_date_symbol_changed": "2000-05-17" }, "entity_type": "gene", "entity_name": "TREX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PRO1557", "PRO2086" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11740", "gene_name": "transferrin", "omim_gene": [ "190000" ], "alias_name": null, "gene_symbol": "TF", "hgnc_symbol": "TF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:133464800-133497850", "ensembl_id": "ENSG00000091513" } }, "GRch38": { "90": { "location": "3:133745956-133779006", "ensembl_id": "ENSG00000091513" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Atransferrinemia, 209300 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C(27)-3BETA-HSD", "SDR11E3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18324", "gene_name": "hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7", "omim_gene": [ "607764" ], "alias_name": [ "short chain dehydrogenase/reductase family 11E, member 3" ], "gene_symbol": "HSD3B7", "hgnc_symbol": "HSD3B7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:30996519-31000473", "ensembl_id": "ENSG00000099377" } }, "GRch38": { "90": { "location": "16:30985207-30989152", "ensembl_id": "ENSG00000099377" } } }, "hgnc_date_symbol_changed": "2003-01-13" }, "entity_type": "gene", "entity_name": "HSD3B7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bile acid synthesis defect, congenital, 1, 607765 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OIP2", "RRP43", "bA421P11.3", "Rrp43p", "EAP2", "p9", "CIP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17035", "gene_name": "exosome component 8", "omim_gene": [ "606019" ], "alias_name": [ "CBP-interacting protein 3", "Opa interacting protein 2" ], "gene_symbol": "EXOSC8", "hgnc_symbol": "EXOSC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:37572953-37583750", "ensembl_id": "ENSG00000120699" } }, "GRch38": { "90": { "location": "13:36998816-37009613", "ensembl_id": "ENSG00000120699" } } }, "hgnc_date_symbol_changed": "2004-03-26" }, "entity_type": "gene", "entity_name": "EXOSC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 1C, 616081 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ECE3", "CD238" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6308", "gene_name": "Kell blood group, metallo-endopeptidase", "omim_gene": [ "613883" ], "alias_name": null, "gene_symbol": "KEL", "hgnc_symbol": "KEL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:142638201-142659768", "ensembl_id": "ENSG00000197993" } }, "GRch38": { "90": { "location": "7:142941114-142962681", "ensembl_id": "ENSG00000197993" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "KEL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30578106", "37978175" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "vein of Galen aneurysm, MONDO:0015196" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3144, "hash_id": null, "name": "Cerebral vascular malformations", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.", "status": "public", "version": "1.12", "version_created": "2026-01-22T10:52:30.127872+11:00", "relevant_disorders": [ "Abnormal cerebral vascular morphology HP:0100659" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16035", "gene_name": "stereocilin", "omim_gene": [ "606440" ], "alias_name": null, "gene_symbol": "STRC", "hgnc_symbol": "STRC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:43891596-44010458", "ensembl_id": "ENSG00000242866" } }, "GRch38": { "90": { "location": "15:43599398-43618800", "ensembl_id": "ENSG00000242866" } } }, "hgnc_date_symbol_changed": "2001-10-03" }, "entity_type": "gene", "entity_name": "STRC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Deafness, autosomal recessive" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "THES" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23639", "gene_name": "tetratricopeptide repeat domain 37", "omim_gene": [ "614589" ], "alias_name": [ "thespin" ], "gene_symbol": "TTC37", "hgnc_symbol": "TTC37", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:94799599-94890711", "ensembl_id": "ENSG00000198677" } }, "GRch38": { "90": { "location": "5:95463895-95555007", "ensembl_id": "ENSG00000198677" } } }, "hgnc_date_symbol_changed": "2008-06-11" }, "entity_type": "gene", "entity_name": "TTC37", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Trichohepatoenteric syndrome" ], "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": [ "FACE-1", "Ste24p", "STE24", "HGPS", "PRO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12877", "gene_name": "zinc metallopeptidase STE24", "omim_gene": [ "606480" ], "alias_name": [ "Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog" ], "gene_symbol": "ZMPSTE24", "hgnc_symbol": "ZMPSTE24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:40723779-40759856", "ensembl_id": "ENSG00000084073" } }, "GRch38": { "90": { "location": "1:40258107-40294184", "ensembl_id": "ENSG00000084073" } } }, "hgnc_date_symbol_changed": "1999-09-17" }, "entity_type": "gene", "entity_name": "ZMPSTE24", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Restrictive dermopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1122", "gene_name": "biotinidase", "omim_gene": [ "609019" ], "alias_name": null, "gene_symbol": "BTD", "hgnc_symbol": "BTD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:15642848-15687329", "ensembl_id": "ENSG00000169814" } }, "GRch38": { "90": { "location": "3:15601341-15645822", "ensembl_id": "ENSG00000169814" } } }, "hgnc_date_symbol_changed": "1994-03-30" }, "entity_type": "gene", "entity_name": "BTD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Biotinidase 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": [ "RTS", "CBP", "KAT3A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2348", "gene_name": "CREB binding protein", "omim_gene": [ "600140" ], "alias_name": null, "gene_symbol": "CREBBP", "hgnc_symbol": "CREBBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:3775055-3930727", "ensembl_id": "ENSG00000005339" } }, "GRch38": { "90": { "location": "16:3725054-3880726", "ensembl_id": "ENSG00000005339" } } }, "hgnc_date_symbol_changed": "1995-01-10" }, "entity_type": "gene", "entity_name": "CREBBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35626936" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Menke-Hennekam syndrome 1, MIM# 618332" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.318", "version_created": "2026-04-27T11:53:17.890231+10:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "U5-116KD", "Snrp116", "Snu114", "SNRNP116" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30858", "gene_name": "elongation factor Tu GTP binding domain containing 2", "omim_gene": [ "603892" ], "alias_name": [ "U5 snRNP specific protein, 116 kD" ], "gene_symbol": "EFTUD2", "hgnc_symbol": "EFTUD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42927311-42977030", "ensembl_id": "ENSG00000108883" } }, "GRch38": { "90": { "location": "17:44849943-44899662", "ensembl_id": "ENSG00000108883" } } }, "hgnc_date_symbol_changed": "2005-07-26" }, "entity_type": "gene", "entity_name": "EFTUD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE", "MFDGA" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.318", "version_created": "2026-04-27T11:53:17.890231+10:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1122", "gene_name": "biotinidase", "omim_gene": [ "609019" ], "alias_name": null, "gene_symbol": "BTD", "hgnc_symbol": "BTD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:15642848-15687329", "ensembl_id": "ENSG00000169814" } }, "GRch38": { "90": { "location": "3:15601341-15645822", "ensembl_id": "ENSG00000169814" } } }, "hgnc_date_symbol_changed": "1994-03-30" }, "entity_type": "gene", "entity_name": "BTD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "7550325" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Biotinidase deficiency MIM#253260", "disorder of biotin metabolism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11273", "gene_name": "spectrin alpha, non-erythrocytic 1", "omim_gene": [ "182810" ], "alias_name": [ "alpha-fodrin" ], "gene_symbol": "SPTAN1", "hgnc_symbol": "SPTAN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131314866-131395941", "ensembl_id": "ENSG00000197694" } }, "GRch38": { "90": { "location": "9:128552558-128633662", "ensembl_id": "ENSG00000197694" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "SPTAN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20493457", "22258530", "32811770" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Developmental and epileptic encephalopathy 5, MIM# 613477" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4879", "gene_name": "hexosaminidase subunit beta", "omim_gene": [ "606873" ], "alias_name": [ "beta-hexosaminidase subunit beta" ], "gene_symbol": "HEXB", "hgnc_symbol": "HEXB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:73935848-74018472", "ensembl_id": "ENSG00000049860" } }, "GRch38": { "90": { "location": "5:74640023-74722647", "ensembl_id": "ENSG00000049860" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HEXB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23046579", "24613245", "33407268", "27697305", "11869411", "33363784" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Sandhoff disease, infantile, juvenile, and adult forms-MIM#268800" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RYR", "PPP1R137" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10483", "gene_name": "ryanodine receptor 1", "omim_gene": [ "180901" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 137" ], "gene_symbol": "RYR1", "hgnc_symbol": "RYR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:38924339-39078204", "ensembl_id": "ENSG00000196218" } }, "GRch38": { "90": { "location": "19:38433699-38587564", "ensembl_id": "ENSG00000196218" } } }, "hgnc_date_symbol_changed": "1989-12-01" }, "entity_type": "gene", "entity_name": "RYR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32655342", "32097819", "30236493" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fetal akinesia sequence" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GUCY2B", "ANPb" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7944", "gene_name": "natriuretic peptide receptor 2", "omim_gene": [ "108961" ], "alias_name": [ "guanylate cyclase 2B" ], "gene_symbol": "NPR2", "hgnc_symbol": "NPR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:35792151-35809729", "ensembl_id": "ENSG00000159899" } }, "GRch38": { "90": { "location": "9:35792154-35809732", "ensembl_id": "ENSG00000159899" } } }, "hgnc_date_symbol_changed": "1990-03-27" }, "entity_type": "gene", "entity_name": "NPR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "15146390", "31990356", "30602027", "24001744", "24057292" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Acromesomelic dysplasia 1, Maroteaux type (MIM#602875)", "Epiphyseal chondrodysplasia, Miura type (MIM#615923)", "Short stature with nonspecific skeletal abnormalities (MIM#616255)" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NPH3", "KIAA2000", "FLJ30691", "FLJ36696", "MKS7", "SLSN3", "CFAP31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7907", "gene_name": "nephrocystin 3", "omim_gene": [ "608002" ], "alias_name": [ "Meckel syndrome, type 7", "cilia and flagella associated protein 31" ], "gene_symbol": "NPHP3", "hgnc_symbol": "NPHP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:132276986-132441303", "ensembl_id": "ENSG00000113971" } }, "GRch38": { "90": { "location": "3:132680609-132722442", "ensembl_id": "ENSG00000113971" } } }, "hgnc_date_symbol_changed": "2000-01-20" }, "entity_type": "gene", "entity_name": "NPHP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18371931" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Meckel syndrome 7, MIM# 267010", "Nephronophthisis 3, MIM# 604387", "Renal-hepatic-pancreatic dysplasia 1, MIM# 208540" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SDR12C2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5212", "gene_name": "hydroxysteroid 17-beta dehydrogenase 3", "omim_gene": [ "605573" ], "alias_name": [ "short chain dehydrogenase/reductase family 12C, member 2" ], "gene_symbol": "HSD17B3", "hgnc_symbol": "HSD17B3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:98997588-99064434", "ensembl_id": "ENSG00000130948" } }, "GRch38": { "90": { "location": "9:96235306-96302152", "ensembl_id": "ENSG00000130948" } } }, "hgnc_date_symbol_changed": "1994-09-14" }, "entity_type": "gene", "entity_name": "HSD17B3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Pseudohermaphroditism, male, with gynecomastia 264300" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "P450C11", "FHI", "CPN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2591", "gene_name": "cytochrome P450 family 11 subfamily B member 1", "omim_gene": [ "610613" ], "alias_name": [ "steroid 11-beta-monooxygenase" ], "gene_symbol": "CYP11B1", "hgnc_symbol": "CYP11B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:143953772-143961262", "ensembl_id": "ENSG00000160882" } }, "GRch38": { "90": { "location": "8:142872356-142879846", "ensembl_id": "ENSG00000160882" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CYP11B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8768848" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ38663", "SPG55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26784", "gene_name": "chromosome 12 open reading frame 65", "omim_gene": [ "613541" ], "alias_name": null, "gene_symbol": "C12orf65", "hgnc_symbol": "C12orf65", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:123717463-123742506", "ensembl_id": "ENSG00000130921" } }, "GRch38": { "90": { "location": "12:123232916-123257959", "ensembl_id": "ENSG00000130921" } } }, "hgnc_date_symbol_changed": "2007-02-26" }, "entity_type": "gene", "entity_name": "C12orf65", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32478789" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 7, MIM# 613559", "Spastic paraplegia 55, autosomal recessive, MIM# 615035" ], "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": "1.576", "version_created": "2026-04-29T19:01:52.053429+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FVIII", "DXS1253E", "HEMA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3546", "gene_name": "coagulation factor VIII", "omim_gene": [ "300841" ], "alias_name": [ "Factor VIIIF8B", "hemophilia A" ], "gene_symbol": "F8", "hgnc_symbol": "F8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:154064063-154255215", "ensembl_id": "ENSG00000185010" } }, "GRch38": { "90": { "location": "X:154835788-155026940", "ensembl_id": "ENSG00000185010" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "F8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Mackenzie's Mission" ], "phenotypes": [ "Hemophilia A, 306700 (3)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "SV/CNV" ], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "B17", "C2TA", "DKFZP434M035" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2993", "gene_name": "downstream neighbor of SON", "omim_gene": [ "611428" ], "alias_name": null, "gene_symbol": "DONSON", "hgnc_symbol": "DONSON", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:34931848-34961014", "ensembl_id": "ENSG00000159147" } }, "GRch38": { "90": { "location": "21:33559542-33588708", "ensembl_id": "ENSG00000159147" } } }, "hgnc_date_symbol_changed": "2000-02-18" }, "entity_type": "gene", "entity_name": "DONSON", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31191207", "29760432" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly-micromelia syndrome (MIM#251230)", "Microcephaly, short stature, and limb abnormalities (MIM#617604)", "Meier-Gorlin syndrome 10, MIM# 621528" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CI-24k" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7717", "gene_name": "NADH:ubiquinone oxidoreductase core subunit V2", "omim_gene": [ "600532" ], "alias_name": [ "complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial" ], "gene_symbol": "NDUFV2", "hgnc_symbol": "NDUFV2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:9102628-9134343", "ensembl_id": "ENSG00000178127" } }, "GRch38": { "90": { "location": "18:9102630-9134345", "ensembl_id": "ENSG00000178127" } } }, "hgnc_date_symbol_changed": "1994-09-07" }, "entity_type": "gene", "entity_name": "NDUFV2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33811136", "34405929", "12754703", "26008862", "30770271", "19167255" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 7, MIM#618229, MONDO:0044970" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ11046" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25622", "gene_name": "TBC1 domain family member 23", "omim_gene": [ "617687" ], "alias_name": null, "gene_symbol": "TBC1D23", "hgnc_symbol": "TBC1D23", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:99979844-100044095", "ensembl_id": "ENSG00000036054" } }, "GRch38": { "90": { "location": "3:100261000-100325251", "ensembl_id": "ENSG00000036054" } } }, "hgnc_date_symbol_changed": "2006-01-06" }, "entity_type": "gene", "entity_name": "TBC1D23", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28823707", "28823706" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 11, MIM#617695" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20152", "JK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25964", "gene_name": "reticulophagy regulator 1", "omim_gene": [ "613114" ], "alias_name": null, "gene_symbol": "RETREG1", "hgnc_symbol": "RETREG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:16473147-16617167", "ensembl_id": "ENSG00000154153" } }, "GRch38": { "90": { "location": "5:16473038-16617058", "ensembl_id": "ENSG00000154153" } } }, "hgnc_date_symbol_changed": "2017-03-16" }, "entity_type": "gene", "entity_name": "RETREG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19838196", "24327336", "31737055", "31596031" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115", "MONDO:0013142" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CMPD4", "FLJ32040", "TMD", "CMH9", "LGMD2J", "MYLK5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12403", "gene_name": "titin", "omim_gene": [ "188840" ], "alias_name": null, "gene_symbol": "TTN", "hgnc_symbol": "TTN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:179390716-179695529", "ensembl_id": "ENSG00000155657" } }, "GRch38": { "90": { "location": "2:178525989-178830802", "ensembl_id": "ENSG00000155657" } } }, "hgnc_date_symbol_changed": "1991-06-07" }, "entity_type": "gene", "entity_name": "TTN", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Amber", "BabySeq Category B gene" ], "phenotypes": [ "Centronuclear myopathy", "Cardiomyopathy, dilated" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9725", "gene_name": "glycogen phosphorylase L", "omim_gene": [ "613741" ], "alias_name": [ "Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form" ], "gene_symbol": "PYGL", "hgnc_symbol": "PYGL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:51324609-51411454", "ensembl_id": "ENSG00000100504" } }, "GRch38": { "90": { "location": "14:50857891-50944736", "ensembl_id": "ENSG00000100504" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PYGL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Glycogen storage disease VI, MIM# 232700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "metabolic" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PC-1", "PCA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3356", "gene_name": "ectonucleotide pyrophosphatase/phosphodiesterase 1", "omim_gene": [ "173335" ], "alias_name": null, "gene_symbol": "ENPP1", "hgnc_symbol": "ENPP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:132129156-132216295", "ensembl_id": "ENSG00000197594" } }, "GRch38": { "90": { "location": "6:131808016-131895155", "ensembl_id": "ENSG00000197594" } } }, "hgnc_date_symbol_changed": "1992-12-08" }, "entity_type": "gene", "entity_name": "ENPP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15605415", "20016754", "12881724", "20137772", "20137773", "33005041", "35220637", "28964717", "24075184", "26617416", "32598042" ], "evidence": [ "Expert Review Green", "KidGen_CalcPhos v38.1.0", "Expert Review Green", "Expert Review Green", "KidGen_CalcPhos v38.1.0", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Arterial calcification, generalized, of infancy, 1, MIM# 208000", "Cole disease, MIM# 615522", "Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312" ], "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": [ "BETA2", "BHF-1", "NeuroD", "bHLHa3", "MODY6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7762", "gene_name": "neuronal differentiation 1", "omim_gene": [ "601724" ], "alias_name": [ "beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD" ], "gene_symbol": "NEUROD1", "hgnc_symbol": "NEUROD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:182537815-182545603", "ensembl_id": "ENSG00000162992" } }, "GRch38": { "90": { "location": "2:181673088-181680876", "ensembl_id": "ENSG00000162992" } } }, "hgnc_date_symbol_changed": "1996-03-12" }, "entity_type": "gene", "entity_name": "NEUROD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10545951", "26773576", "26669242", "20573748" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6", "Maturity-Onset Diabetes Of The Young", "Permanent neonatal diabetes and cerebellar agenesis", "MODY6", "Maturity Onset Diabetes of the Young", "{Diabetes mellitus, noninsulin-dependent}, 125853", "Maturity-onset diabetes of the young 6, 606394" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Uae1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23657", "gene_name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase", "omim_gene": [ "603824" ], "alias_name": [ "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase" ], "gene_symbol": "GNE", "hgnc_symbol": "GNE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:36214438-36277053", "ensembl_id": "ENSG00000159921" } }, "GRch38": { "90": { "location": "9:36214441-36277056", "ensembl_id": "ENSG00000159921" } } }, "hgnc_date_symbol_changed": "2003-11-28" }, "entity_type": "gene", "entity_name": "GNE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30171045", "25257349", "32505938", "29941673" ], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "Thrombocytopaenia", "Myopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:890", "gene_name": "AU RNA binding methylglutaconyl-CoA hydratase", "omim_gene": [ "600529" ], "alias_name": null, "gene_symbol": "AUH", "hgnc_symbol": "AUH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:93976097-94124195", "ensembl_id": "ENSG00000148090" } }, "GRch38": { "90": { "location": "9:91213815-91361913", "ensembl_id": "ENSG00000148090" } } }, "hgnc_date_symbol_changed": "1995-10-02" }, "entity_type": "gene", "entity_name": "AUH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12434311", "16354225", "20855850", "21840233" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "3-methylglutaconic aciduria, type I, MIM# 250950", "MONDO:0009610" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.1", "version_created": "2026-04-24T17:01:18.976102+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nudE", "FLJ20101", "NDE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17619", "gene_name": "nudE neurodevelopment protein 1", "omim_gene": [ "609449" ], "alias_name": null, "gene_symbol": "NDE1", "hgnc_symbol": "NDE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:15737124-15820210", "ensembl_id": "ENSG00000072864" } }, "GRch38": { "90": { "location": "16:15643267-15726353", "ensembl_id": "ENSG00000072864" } } }, "hgnc_date_symbol_changed": "2003-04-10" }, "entity_type": "gene", "entity_name": "NDE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30637988", "21529751", "34562061" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lissencephaly 4 (with microcephaly), MIM#614019" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.1", "version_created": "2026-04-24T17:01:18.976102+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0243", "LAM", "hamartin" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12362", "gene_name": "TSC complex subunit 1", "omim_gene": [ "605284" ], "alias_name": [ "hamartin" ], "gene_symbol": "TSC1", "hgnc_symbol": "TSC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:135766735-135820020", "ensembl_id": "ENSG00000165699" } }, "GRch38": { "90": { "location": "9:132891348-132944633", "ensembl_id": "ENSG00000165699" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TSC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Renal carcinoma, MONDO:0005206", "Tuberous sclerosis 1, MONDO:0008612", "Tuberous sclerosis-1, MIM#191100" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4367, "hash_id": null, "name": "Kidney Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with kidney cancer. \r\n\r\nFurther information on the testing criteria for kidney cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3889-renal-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with kidney cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.12", "version_created": "2026-02-21T14:02:42.792697+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FAD", "FAD1", "BRCC2", "XRCC11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1101", "gene_name": "BRCA2, DNA repair associated", "omim_gene": [ "600185" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 2" ], "gene_symbol": "BRCA2", "hgnc_symbol": "BRCA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:32889611-32973805", "ensembl_id": "ENSG00000139618" } }, "GRch38": { "90": { "location": "13:32315474-32400266", "ensembl_id": "ENSG00000139618" } } }, "hgnc_date_symbol_changed": "1994-10-17" }, "entity_type": "gene", "entity_name": "BRCA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "BRCA2-related cancer predisposition, MONDO:0700269", "Breast-ovarian cancer, familial, 2, MIM#612555" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Repro-SA-1", "pf16", "CT141" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11215", "gene_name": "sperm associated antigen 6", "omim_gene": [ "605730" ], "alias_name": [ "axoneme central apparatus protein" ], "gene_symbol": "SPAG6", "hgnc_symbol": "SPAG6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:22634399-22743153", "ensembl_id": "ENSG00000077327" } }, "GRch38": { "90": { "location": "10:22345445-22454224", "ensembl_id": "ENSG00000077327" } } }, "hgnc_date_symbol_changed": "1999-04-23" }, "entity_type": "gene", "entity_name": "SPAG6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35232447", "38073178", "32124190" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure, MONDO:0004983, SPAG6-related" ], "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": "1.156", "version_created": "2026-04-30T15:46:29.604965+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 269, "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 } ] }