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{ "count": 36042, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=233", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=231", "results": [ { "gene_data": { "alias": [ "DKFZp313L0718" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4620", "gene_name": "gelsolin", "omim_gene": [ "137350" ], "alias_name": [ "amyloidosis, Finnish type" ], "gene_symbol": "GSN", "hgnc_symbol": "GSN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:123970072-124095121", "ensembl_id": "ENSG00000148180" } }, "GRch38": { "90": { "location": "9:121207794-121332843", "ensembl_id": "ENSG00000148180" } } }, "hgnc_date_symbol_changed": "1988-07-19" }, "entity_type": "gene", "entity_name": "GSN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Amyloidosis, Finnish type MIM#105120" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 24, "hash_id": null, "name": "Early-onset Dementia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.58", "version_created": "2026-03-31T16:43:37.497568+11:00", "relevant_disorders": [ "Cognitive impairment", "HP:0100543" ], "stats": { "number_of_genes": 96, "number_of_strs": 6, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC71996", "NBIA3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3999", "gene_name": "ferritin light chain", "omim_gene": [ "134790" ], "alias_name": [ "ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3" ], "gene_symbol": "FTL", "hgnc_symbol": "FTL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:49468558-49470135", "ensembl_id": "ENSG00000087086" } }, "GRch38": { "90": { "location": "19:48965301-48966878", "ensembl_id": "ENSG00000087086" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FTL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11438811", "18854324", "15099026", "15173247" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodegeneration with brain iron accumulation 3, MIM# 606159" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 24, "hash_id": null, "name": "Early-onset Dementia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.58", "version_created": "2026-03-31T16:43:37.497568+11:00", "relevant_disorders": [ "Cognitive impairment", "HP:0100543" ], "stats": { "number_of_genes": 96, "number_of_strs": 6, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14581", "gene_name": "PTEN induced putative kinase 1", "omim_gene": [ "608309" ], "alias_name": null, "gene_symbol": "PINK1", "hgnc_symbol": "PINK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:20959948-20978004", "ensembl_id": "ENSG00000158828" } }, "GRch38": { "90": { "location": "1:20633455-20651511", "ensembl_id": "ENSG00000158828" } } }, "hgnc_date_symbol_changed": "2001-02-08" }, "entity_type": "gene", "entity_name": "PINK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28980524" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Parkinson disease 6, early onset MIM#605909" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.55", "version_created": "2026-04-17T16:01:21.596122+10:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14244", "gene_name": "RAB18, member RAS oncogene family", "omim_gene": [ "602207" ], "alias_name": null, "gene_symbol": "RAB18", "hgnc_symbol": "RAB18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:27793197-27831143", "ensembl_id": "ENSG00000099246" } }, "GRch38": { "90": { "location": "10:27504174-27542237", "ensembl_id": "ENSG00000099246" } } }, "hgnc_date_symbol_changed": "2000-12-12" }, "entity_type": "gene", "entity_name": "RAB18", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11237903", "23420520" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Warburg micro syndrome 3, MIM# 614222" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 42, "hash_id": null, "name": "Anophthalmia_Microphthalmia_Coloboma", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.57", "version_created": "2026-03-03T11:23:37.804849+11:00", "relevant_disorders": [ "Anophthalmia", "HP:0000528;Microphthalmia", "HP:0000568;Coloboma", "HP:0000589" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DSPG1", "SLRR1A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1044", "gene_name": "biglycan", "omim_gene": [ "301870" ], "alias_name": [ "biglycan proteoglycan" ], "gene_symbol": "BGN", "hgnc_symbol": "BGN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:152760397-152775012", "ensembl_id": "ENSG00000182492" } }, "GRch38": { "90": { "location": "X:153494939-153509554", "ensembl_id": "ENSG00000182492" } } }, "hgnc_date_symbol_changed": "1989-07-18" }, "entity_type": "gene", "entity_name": "BGN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30071989", "27632686", "17502576" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Meester-Loeys syndrome, MIM#\t300989" ], "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": 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": [ "CD118" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6597", "gene_name": "LIF receptor alpha", "omim_gene": [ "151443" ], "alias_name": null, "gene_symbol": "LIFR", "hgnc_symbol": "LIFR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:38475065-38608456", "ensembl_id": "ENSG00000113594" } }, "GRch38": { "90": { "location": "5:38474963-38608354", "ensembl_id": "ENSG00000113594" } } }, "hgnc_date_symbol_changed": "1992-08-24" }, "entity_type": "gene", "entity_name": "LIFR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 9674905, 9674906, 14740318, 24988918, 35663789" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM #601559" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NFI-L", "KIAA1439" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7784", "gene_name": "nuclear factor I A", "omim_gene": [ "600727" ], "alias_name": null, "gene_symbol": "NFIA", "hgnc_symbol": "NFIA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:61330931-61928465", "ensembl_id": "ENSG00000162599" } }, "GRch38": { "90": { "location": "1:60865259-61462793", "ensembl_id": "ENSG00000162599" } } }, "hgnc_date_symbol_changed": "1995-03-09" }, "entity_type": "gene", "entity_name": "NFIA", "confidence_level": "3", "penetrance": "Incomplete", "mode_of_pathogenicity": null, "publications": [ "36980886" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Craniosynostosis MONDO:0015469, NFIA-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 93, "hash_id": null, "name": "Craniosynostosis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.", "status": "public", "version": "1.85", "version_created": "2026-04-07T13:46:55.940488+10:00", "relevant_disorders": [ "Craniosynostosis HP:0001363" ], "stats": { "number_of_genes": 105, "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": [ "MYOZAP", "Gup", "Gup1", "GCOM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:43444", "gene_name": "myocardial zonula adherens protein", "omim_gene": [ "614071" ], "alias_name": [ "myocardium-enriched zonula adherens protein" ], "gene_symbol": "MYZAP", "hgnc_symbol": "MYZAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:57884139-57977562", "ensembl_id": "ENSG00000263155" } }, "GRch38": { "90": { "location": "15:57591941-57685364", "ensembl_id": "ENSG00000263155" } } }, "hgnc_date_symbol_changed": "2011-11-03" }, "entity_type": "gene", "entity_name": "MYZAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34899865", "35840178", "38436102", "20093627" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cardiomyopathy, dilated, 2K, MIM#\t620894" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 95, "hash_id": null, "name": "Dilated Cardiomyopathy", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.", "status": "public", "version": "1.66", "version_created": "2026-04-02T19:34:23.537467+11:00", "relevant_disorders": [ "Dilated cardiomyopathy", "HP:0001644" ], "stats": { "number_of_genes": 69, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1517", "MGC4322", "MGC2695", "Dhr1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17210", "gene_name": "DEAH-box helicase 37", "omim_gene": [ "617362" ], "alias_name": null, "gene_symbol": "DHX37", "hgnc_symbol": "DHX37", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:125431371-125473668", "ensembl_id": "ENSG00000150990" } }, "GRch38": { "90": { "location": "12:124946825-124989122", "ensembl_id": "ENSG00000150990" } } }, "hgnc_date_symbol_changed": "2003-06-20" }, "entity_type": "gene", "entity_name": "DHX37", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31337883", "31745530", "31287541" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "46,XY sex reversal 11, MONDO:8000015" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RPL10", "RPLY10", "RPYL10", "EC45", "L15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10306", "gene_name": "ribosomal protein L15", "omim_gene": [ "604174" ], "alias_name": null, "gene_symbol": "RPL15", "hgnc_symbol": "RPL15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:23958036-23965183", "ensembl_id": "ENSG00000174748" } }, "GRch38": { "90": { "location": "3:23916545-23923692", "ensembl_id": "ENSG00000174748" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "RPL15", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301769", "29599205", "23812780" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Diamond-Blackfan anemia 12 - MIM#615550", "hydrops" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 116, "hash_id": null, "name": "Hydrops fetalis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.", "status": "public", "version": "0.328", "version_created": "2025-07-08T23:27:02.854141+10:00", "relevant_disorders": [ "Hydrops fetalis", "HP:0001789" ], "stats": { "number_of_genes": 169, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3683", "gene_name": "fibroblast growth factor 5", "omim_gene": [ "165190" ], "alias_name": null, "gene_symbol": "FGF5", "hgnc_symbol": "FGF5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:81187753-81257834", "ensembl_id": "ENSG00000138675" } }, "GRch38": { "90": { "location": "4:80266599-80336680", "ensembl_id": "ENSG00000138675" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "FGF5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24989505" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hypertrichosis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 120, "hash_id": null, "name": "Hypertrichosis syndromes", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.48", "version_created": "2026-01-14T13:37:51.409228+11:00", "relevant_disorders": [ "Hypertrichosis", "HP:0000998" ], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GALA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4296", "gene_name": "galactosidase alpha", "omim_gene": [ "300644" ], "alias_name": null, "gene_symbol": "GLA", "hgnc_symbol": "GLA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:100652791-100662913", "ensembl_id": "ENSG00000102393" } }, "GRch38": { "90": { "location": "X:101397803-101407925", "ensembl_id": "ENSG00000102393" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GLA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "8878432", "31613176", "30681346" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fabry disease 301500", "Fabry disease, cardiac variant 301500" ], "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": [ "cardiac" ], "panel": { "id": 126, "hash_id": null, "name": "Incidentalome", "disease_group": "", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).", "status": "public", "version": "0.433", "version_created": "2026-03-25T17:03:27.624542+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 161, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12637", "gene_name": "lysine demethylase 6A", "omim_gene": [ "300128" ], "alias_name": null, "gene_symbol": "KDM6A", "hgnc_symbol": "KDM6A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:44732757-44971847", "ensembl_id": "ENSG00000147050" } }, "GRch38": { "90": { "location": "X:44873177-45112602", "ensembl_id": "ENSG00000147050" } } }, "hgnc_date_symbol_changed": "2009-04-17" }, "entity_type": "gene", "entity_name": "KDM6A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "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": 134, "hash_id": null, "name": "Kabuki syndrome", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.17", "version_created": "2025-11-13T11:58:53.337652+11:00", "relevant_disorders": [ "Kabuki syndrome", "MONDO:0016512" ], "stats": { "number_of_genes": 8, "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": [ "querkopf", "qkf", "Morf", "MOZ2", "ZC2HC6B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17582", "gene_name": "lysine acetyltransferase 6B", "omim_gene": [ "605880" ], "alias_name": [ "MOZ-related factor" ], "gene_symbol": "KAT6B", "hgnc_symbol": "KAT6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:76585340-76792380", "ensembl_id": "ENSG00000156650" } }, "GRch38": { "90": { "location": "10:74825582-75032622", "ensembl_id": "ENSG00000156650" } } }, "hgnc_date_symbol_changed": "2011-07-21" }, "entity_type": "gene", "entity_name": "KAT6B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "22715153", "32424177" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "SBBYSS syndrome MIM#603736", "Genitopatellar syndrome MIM#606170", "KAT6B-related multiple congenital anomalies syndrome MONDO:0036042" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "U21B31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1582", "gene_name": "cyclin D1", "omim_gene": [ "168461" ], "alias_name": [ "parathyroid adenomatosis 1", "B-cell CLL/lymphoma 1", "G1/S-specific cyclin D1" ], "gene_symbol": "CCND1", "hgnc_symbol": "CCND1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:69455855-69469242", "ensembl_id": "ENSG00000110092" } }, "GRch38": { "90": { "location": "11:69641087-69654474", "ensembl_id": "ENSG00000110092" } } }, "hgnc_date_symbol_changed": "1991-06-06" }, "entity_type": "gene", "entity_name": "CCND1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12097293", "23502783", "21131975", "14657069", "23540573", "20633772" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Colorectal cancer, susceptibility to} MIM#114500", "{Multiple myeloma, susceptibility to} MIM#254500", "{von Hippel-Lindau syndrome, modifier of} MIM#193300" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LMX1.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6653", "gene_name": "LIM homeobox transcription factor 1 alpha", "omim_gene": [ "600298" ], "alias_name": null, "gene_symbol": "LMX1A", "hgnc_symbol": "LMX1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:165171104-165325952", "ensembl_id": "ENSG00000162761" } }, "GRch38": { "90": { "location": "1:165201867-165356715", "ensembl_id": "ENSG00000162761" } } }, "hgnc_date_symbol_changed": "1994-09-07" }, "entity_type": "gene", "entity_name": "LMX1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29754270", "32840933", "29971487" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Deafness, autosomal dominant 7 MIM#601412", "non-syndromic hearing loss" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RAR", "NR1B1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9864", "gene_name": "retinoic acid receptor alpha", "omim_gene": [ "180240" ], "alias_name": null, "gene_symbol": "RARA", "hgnc_symbol": "RARA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:38465444-38513094", "ensembl_id": "ENSG00000131759" } }, "GRch38": { "90": { "location": "17:40309192-40357643", "ensembl_id": "ENSG00000131759" } } }, "hgnc_date_symbol_changed": "1988-06-09" }, "entity_type": "gene", "entity_name": "RARA", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31343737", "37086723" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Craniosynostosis - MONDO:0015469", "Syndromic chorioretinal coloboma" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Glut9", "GLUTX", "URATv1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13446", "gene_name": "solute carrier family 2 member 9", "omim_gene": [ "606142" ], "alias_name": [ "urate voltage-driven efflux transporter 1" ], "gene_symbol": "SLC2A9", "hgnc_symbol": "SLC2A9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:9772777-10056560", "ensembl_id": "ENSG00000109667" } }, "GRch38": { "90": { "location": "4:9771153-10054936", "ensembl_id": "ENSG00000109667" } } }, "hgnc_date_symbol_changed": "2000-09-28" }, "entity_type": "gene", "entity_name": "SLC2A9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19026395", "19926891", "21810765", "25966807", "21256783" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypouricaemia, renal, 2, MIM# 612076" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DPC4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6770", "gene_name": "SMAD family member 4", "omim_gene": [ "600993" ], "alias_name": null, "gene_symbol": "SMAD4", "hgnc_symbol": "SMAD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:48494410-48611415", "ensembl_id": "ENSG00000141646" } }, "GRch38": { "90": { "location": "18:51028394-51085045", "ensembl_id": "ENSG00000141646" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "SMAD4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30809044", "15235019", "16613914", "20101697", "22158539", "22243968" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome, MIM# 175050", "Polyposis, juvenile intestinal, MIM# 174900", "Myhre syndrome, MIM# 139210" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NYD-SP12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29935", "gene_name": "spermatogenesis associated 16", "omim_gene": [ "609856" ], "alias_name": null, "gene_symbol": "SPATA16", "hgnc_symbol": "SPATA16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:172607148-172859058", "ensembl_id": "ENSG00000144962" } }, "GRch38": { "90": { "location": "3:172889358-173141268", "ensembl_id": "ENSG00000144962" } } }, "hgnc_date_symbol_changed": "2005-01-25" }, "entity_type": "gene", "entity_name": "SPATA16", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17847006", "27086357", "29065458" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spermatogenic failure 6 MIM#102530", "Spermatogenic failure 6 MONDO:0007060" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2637", "gene_name": "cytochrome P450 family 3 subfamily A member 4", "omim_gene": [ "124010" ], "alias_name": null, "gene_symbol": "CYP3A4", "hgnc_symbol": "CYP3A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:99354604-99381888", "ensembl_id": "ENSG00000160868" } }, "GRch38": { "90": { "location": "7:99756960-99784265", "ensembl_id": "ENSG00000160868" } } }, "hgnc_date_symbol_changed": "1990-02-24" }, "entity_type": "gene", "entity_name": "CYP3A4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "38179381", "29461981", "36656330" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Vitamin D-dependent rickets-3, MIM#619073" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TRS20", "SEDT", "MIP-2A", "ZNF547L", "hYP38334" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23068", "gene_name": "trafficking protein particle complex 2", "omim_gene": [ "300202" ], "alias_name": null, "gene_symbol": "TRAPPC2", "hgnc_symbol": "TRAPPC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:13730363-13752754", "ensembl_id": "ENSG00000196459" } }, "GRch38": { "90": { "location": "X:13712244-13734635", "ensembl_id": "ENSG00000196459" } } }, "hgnc_date_symbol_changed": "2005-01-26" }, "entity_type": "gene", "entity_name": "TRAPPC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10431248", "14755465", "33726005", "20301324", "32953644" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spondyloepiphyseal dysplasia tarda, MIM# 313400" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20136", "FLJ10381", "KIAA1421" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23594", "gene_name": "vacuolar protein sorting 13 homolog C", "omim_gene": [ "608879" ], "alias_name": null, "gene_symbol": "VPS13C", "hgnc_symbol": "VPS13C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:62144588-62352672", "ensembl_id": "ENSG00000129003" } }, "GRch38": { "90": { "location": "15:61852389-62060473", "ensembl_id": "ENSG00000129003" } } }, "hgnc_date_symbol_changed": "2004-02-10" }, "entity_type": "gene", "entity_name": "VPS13C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26942284", "30452786", "28862745" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Early-onset Parkinson disease-23, MIM# 616840" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AT2", "MRX88" ], "biotype": "protein_coding", "hgnc_id": "HGNC:338", "gene_name": "angiotensin II receptor type 2", "omim_gene": [ "300034" ], "alias_name": null, "gene_symbol": "AGTR2", "hgnc_symbol": "AGTR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:115301975-115306225", "ensembl_id": "ENSG00000180772" } }, "GRch38": { "90": { "location": "X:116170722-116174972", "ensembl_id": "ENSG00000180772" } } }, "hgnc_date_symbol_changed": "1992-08-25" }, "entity_type": "gene", "entity_name": "AGTR2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "X-linked complex neurodevelopmental disorder MONDO:0100148" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "disputed" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PDIB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1512", "gene_name": "calsequestrin 1", "omim_gene": [ "114250" ], "alias_name": [ "calsequestrin 1, fast-twitch, skeletal muscle", "calmitine" ], "gene_symbol": "CASQ1", "hgnc_symbol": "CASQ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:160160285-160171676", "ensembl_id": "ENSG00000143318" } }, "GRch38": { "90": { "location": "1:160190556-160201886", "ensembl_id": "ENSG00000143318" } } }, "hgnc_date_symbol_changed": "1990-08-23" }, "entity_type": "gene", "entity_name": "CASQ1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26136523", "30258016" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myopathy, vacuolar, with CASQ1 aggregates MIM#616231" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "founder" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0968", "CaMKIINalpha" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1460", "gene_name": "calcium/calmodulin dependent protein kinase II alpha", "omim_gene": [ "114078" ], "alias_name": [ "CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain" ], "gene_symbol": "CAMK2A", "hgnc_symbol": "CAMK2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:149599054-149669854", "ensembl_id": "ENSG00000070808" } }, "GRch38": { "90": { "location": "5:150219491-150290291", "ensembl_id": "ENSG00000070808" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "CAMK2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32600977", "29784083", "29560374" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal recessive 63 MIM#618095", "Mental retardation, autosomal dominant 53 MIM#617798" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11182", "gene_name": "calpain 15", "omim_gene": [ "603267" ], "alias_name": null, "gene_symbol": "CAPN15", "hgnc_symbol": "CAPN15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:577717-604636", "ensembl_id": "ENSG00000103326" } }, "GRch38": { "90": { "location": "16:527717-554636", "ensembl_id": "ENSG00000103326" } } }, "hgnc_date_symbol_changed": "2013-06-27" }, "entity_type": "gene", "entity_name": "CAPN15", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32885237", "33410501" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318", "microphthalmia HP:0000568", "coloboma HP:0000589" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10866", "gene_name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 3", "omim_gene": [ "606494" ], "alias_name": [ "ST3Gal III" ], "gene_symbol": "ST3GAL3", "hgnc_symbol": "ST3GAL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:44171495-44396831", "ensembl_id": "ENSG00000126091" } }, "GRch38": { "90": { "location": "1:43705824-43931165", "ensembl_id": "ENSG00000126091" } } }, "hgnc_date_symbol_changed": "2005-02-07" }, "entity_type": "gene", "entity_name": "ST3GAL3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23252400", "21907012", "31584066" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal recessive 12 MIM# 611090" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ERIC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11524", "gene_name": "transforming acidic coiled-coil containing protein 3", "omim_gene": [ "605303" ], "alias_name": null, "gene_symbol": "TACC3", "hgnc_symbol": "TACC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:1723227-1746898", "ensembl_id": "ENSG00000013810" } }, "GRch38": { "90": { "location": "4:1721490-1745176", "ensembl_id": "ENSG00000013810" } } }, "hgnc_date_symbol_changed": "1998-10-12" }, "entity_type": "gene", "entity_name": "TACC3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36395215" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Female infertility due to oocyte meiotic arrest, MONDO:0044626" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "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": "", "publications": [ "7664335", "19894250" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cockayne syndrome, type A, MIM# 216400", "MONDO:0019569", "UV-sensitive syndrome 2, MIM# 614621", "MONDO:0013829" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JAM-C", "JAMC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15532", "gene_name": "junctional adhesion molecule 3", "omim_gene": [ "606871" ], "alias_name": null, "gene_symbol": "JAM3", "hgnc_symbol": "JAM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:133938820-134021896", "ensembl_id": "ENSG00000166086" } }, "GRch38": { "90": { "location": "11:134068925-134152001", "ensembl_id": "ENSG00000166086" } } }, "hgnc_date_symbol_changed": "2001-04-26" }, "entity_type": "gene", "entity_name": "JAM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23255084", "21109224" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730" ], "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": "1.4754", "version_created": "2026-04-20T20:37:57.116193+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6014, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GAPCenA", "TBC1D11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17155", "gene_name": "RAB GTPase activating protein 1", "omim_gene": [ "615882" ], "alias_name": [ "rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11" ], "gene_symbol": "RABGAP1", "hgnc_symbol": "RABGAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:125703112-125867145", "ensembl_id": "ENSG00000011454" } }, "GRch38": { "90": { "location": "9:122940833-123104866", "ensembl_id": "ENSG00000011454" } } }, "hgnc_date_symbol_changed": "2004-01-12" }, "entity_type": "gene", "entity_name": "RABGAP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36083289" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3040", "gene_name": "regulator of calcineurin 1", "omim_gene": [ "602917" ], "alias_name": null, "gene_symbol": "RCAN1", "hgnc_symbol": "RCAN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:35885440-35987441", "ensembl_id": "ENSG00000159200" } }, "GRch38": { "90": { "location": "21:34513142-34615142", "ensembl_id": "ENSG00000159200" } } }, "hgnc_date_symbol_changed": "2007-06-26" }, "entity_type": "gene", "entity_name": "RCAN1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33863784" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Focal segmental glomerulosclerosis MONDO:0100313, RCAN1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 144, "hash_id": null, "name": "Proteinuria", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.", "status": "public", "version": "0.239", "version_created": "2026-03-12T18:51:41.043263+11:00", "relevant_disorders": [ "Proteinuria HP:0000093" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11049", "gene_name": "solute carrier family 6 member 3", "omim_gene": [ "126455" ], "alias_name": [ "dopamine transporter" ], "gene_symbol": "SLC6A3", "hgnc_symbol": "SLC6A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:1392909-1445545", "ensembl_id": "ENSG00000142319" } }, "GRch38": { "90": { "location": "5:1392790-1445430", "ensembl_id": "ENSG00000142319" } } }, "hgnc_date_symbol_changed": "1994-03-16" }, "entity_type": "gene", "entity_name": "SLC6A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21112253" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Parkinsonism-dystonia, infantile, 1, MIM# 613135" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 145, "hash_id": null, "name": "Neurotransmitter Defects", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.8", "version_created": "2026-01-09T20:59:22.980216+11:00", "relevant_disorders": [ "Abnormal CSF metabolite concentration", "HP:0025454" ], "stats": { "number_of_genes": 41, "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": [ "S2P" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15455", "gene_name": "membrane bound transcription factor peptidase, site 2", "omim_gene": [ "300294" ], "alias_name": [ "site-2 protease" ], "gene_symbol": "MBTPS2", "hgnc_symbol": "MBTPS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:21857754-21903542", "ensembl_id": "ENSG00000012174" } }, "GRch38": { "90": { "location": "X:21839636-21885424", "ensembl_id": "ENSG00000012174" } } }, "hgnc_date_symbol_changed": "2001-03-30" }, "entity_type": "gene", "entity_name": "MBTPS2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27380894" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Osteogenesis imperfecta, type XIX, MIM#\t301014" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 147, "hash_id": null, "name": "Osteogenesis Imperfecta and Osteoporosis", "disease_group": "Skeletal disorders; Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.18", "version_created": "2026-02-22T14:59:29.563350+11:00", "relevant_disorders": [ "Increased susceptibility to fractures", "HP:0002659" ], "stats": { "number_of_genes": 48, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ND4L", "NAD4L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7460", "gene_name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L", "omim_gene": [ "516004" ], "alias_name": [ "complex I ND4L subunit", "NADH-ubiquinone oxidoreductase chain 4L" ], "gene_symbol": "MT-ND4L", "hgnc_symbol": "MT-ND4L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:10470-10766", "ensembl_id": "ENSG00000212907" } }, "GRch38": { "90": { "location": "MT:10470-10766", "ensembl_id": "ENSG00000212907" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-ND4L", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8680405", "11935318", "17003408", "22879922", "24568867" ], "evidence": [ "Expert Review Amber", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-ND4L-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 149, "hash_id": null, "name": "Optic Atrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.", "status": "public", "version": "1.72", "version_created": "2026-03-31T18:57:17.873049+11:00", "relevant_disorders": [ "Optic atrophy", "HP:0000648" ], "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" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "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": "", "publications": [ "7664335", "19894250" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cockayne syndrome, type A, MIM# 216400", "MONDO:0019569", "UV-sensitive syndrome 2, MIM# 614621", "MONDO:0013829" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 156, "hash_id": null, "name": "Photosensitivity Syndromes", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with photosensitivity, in particular DNA repair disorders and porphyrias.", "status": "public", "version": "1.11", "version_created": "2025-12-08T10:32:19.181318+11:00", "relevant_disorders": [ "Cutaneous photosensitivity", "HP:0000992" ], "stats": { "number_of_genes": 28, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Nav1.8", "hPN3", "SNS", "PN3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10582", "gene_name": "sodium voltage-gated channel alpha subunit 10", "omim_gene": [ "604427" ], "alias_name": null, "gene_symbol": "SCN10A", "hgnc_symbol": "SCN10A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:38738293-38835501", "ensembl_id": "ENSG00000185313" } }, "GRch38": { "90": { "location": "3:38696802-38794010", "ensembl_id": "ENSG00000185313" } } }, "hgnc_date_symbol_changed": "1996-04-12" }, "entity_type": "gene", "entity_name": "SCN10A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 28078312" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO#0700092), SCN10A-related" ], "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": "1.409", "version_created": "2026-04-18T18:50:54.267331+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Kv3.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6233", "gene_name": "potassium voltage-gated channel subfamily C member 1", "omim_gene": [ "176258" ], "alias_name": null, "gene_symbol": "KCNC1", "hgnc_symbol": "KCNC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:17756359-17804602", "ensembl_id": "ENSG00000129159" } }, "GRch38": { "90": { "location": "11:17734774-17856804", "ensembl_id": "ENSG00000129159" } } }, "hgnc_date_symbol_changed": "1991-08-13" }, "entity_type": "gene", "entity_name": "KCNC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28145425", "31353862", "25401298" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Epilepsy, progressive myoclonic 7 (MIM#616187)", "Intellectual disability", "Movement disorders" ], "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": "1.409", "version_created": "2026-04-18T18:50:54.267331+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20661", "gene_name": "solute carrier family 25 member 26", "omim_gene": [ "611037" ], "alias_name": null, "gene_symbol": "SLC25A26", "hgnc_symbol": "SLC25A26", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:66119285-66438540", "ensembl_id": "ENSG00000144741" } }, "GRch38": { "90": { "location": "3:66133610-66388116", "ensembl_id": "ENSG00000144741" } } }, "hgnc_date_symbol_changed": "2003-12-22" }, "entity_type": "gene", "entity_name": "SLC25A26", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26522469" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 28, MIM# 616794" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GPI3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8957", "gene_name": "phosphatidylinositol glycan anchor biosynthesis class A", "omim_gene": [ "311770" ], "alias_name": [ "paroxysmal nocturnal hemoglobinuria", "phosphatidylinositol N-acetylglucosaminyltransferase" ], "gene_symbol": "PIGA", "hgnc_symbol": "PIGA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:15337573-15353676", "ensembl_id": "ENSG00000165195" } }, "GRch38": { "90": { "location": "X:15319451-15335580", "ensembl_id": "ENSG00000165195" } } }, "hgnc_date_symbol_changed": "1993-10-28" }, "entity_type": "gene", "entity_name": "PIGA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2908", "gene_name": "delta like canonical Notch ligand 1", "omim_gene": [ "606582" ], "alias_name": null, "gene_symbol": "DLL1", "hgnc_symbol": "DLL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:170591294-170599561", "ensembl_id": "ENSG00000198719" } }, "GRch38": { "90": { "location": "6:170282206-170306565", "ensembl_id": "ENSG00000198719" } } }, "hgnc_date_symbol_changed": "2000-02-11" }, "entity_type": "gene", "entity_name": "DLL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31353024" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [] }, { "gene_data": { "alias": [ "trnF" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7481", "gene_name": "mitochondrially encoded tRNA phenylalanine", "omim_gene": [ "590070" ], "alias_name": null, "gene_symbol": "MT-TF", "hgnc_symbol": "MT-TF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:577-647", "ensembl_id": "ENSG00000210049" } }, "GRch38": { "90": { "location": "MT:577-647", "ensembl_id": "ENSG00000210049" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "14659412", "9771776", "16806928", "21060018", "31463198", "32419253", "34607911", "21424749", "15184630", "20142618", "28267784", "31722346", "35472031", "9636664", "21882289", "16769874", "21914246", "31009750", "18977334" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TF-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "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": [ "CDG1N" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30220", "gene_name": "RFT1 homolog", "omim_gene": [ "611908" ], "alias_name": [ "congenital disorder of glycosylation 1N" ], "gene_symbol": "RFT1", "hgnc_symbol": "RFT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:53122499-53164478", "ensembl_id": "ENSG00000163933" } }, "GRch38": { "90": { "location": "3:53088483-53130462", "ensembl_id": "ENSG00000163933" } } }, "hgnc_date_symbol_changed": "2005-01-19" }, "entity_type": "gene", "entity_name": "RFT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "18313027", "19701946", "19856127", "23111317", "30071302", "29923091", "27927990", "26892341" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Congenital disorder of glycosylation, type In, MIM# 612015", "RFT1-CDG, MONDO:0012783" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.361", "version_created": "2026-04-11T11:20:22.713350+10:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0540" ], "biotype": "protein_coding", "hgnc_id": "HGNC:31928", "gene_name": "neurobeachin like 2", "omim_gene": [ "614169" ], "alias_name": null, "gene_symbol": "NBEAL2", "hgnc_symbol": "NBEAL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:47021173-47051193", "ensembl_id": "ENSG00000160796" } }, "GRch38": { "90": { "location": "3:46979683-47009703", "ensembl_id": "ENSG00000160796" } } }, "hgnc_date_symbol_changed": "2005-03-04" }, "entity_type": "gene", "entity_name": "NBEAL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37349339" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Gray platelet syndrome, MIM# 139090", "Immune dysregulation" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 229, "hash_id": null, "name": "Disorders of immune dysregulation", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.43", "version_created": "2026-04-06T13:01:39.255117+10:00", "relevant_disorders": [ "Immune dysregulation", "HP:0002958" ], "stats": { "number_of_genes": 118, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ADRARL1" ], "biotype": null, "hgnc_id": "HGNC:282", "gene_name": "adrenoceptor alpha 2B", "omim_gene": [ "104260" ], "alias_name": null, "gene_symbol": "ADRA2B", "hgnc_symbol": "ADRA2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:96778707-96781984", "ensembl_id": "ENSG00000222040" } }, "GRch38": { "90": { "location": "2:96112875-96116245", "ensembl_id": "ENSG00000274286" } } }, "hgnc_date_symbol_changed": "1990-09-10" }, "entity_type": "gene", "entity_name": "ADRA2B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24114805", "21937992" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Cortical myoclonus and epilepsy", "Intellectual disability" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "refuted" ], "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": "1.753", "version_created": "2026-04-20T16:26:20.852704+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CHL12", "C321D2.4", "Ctf18" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18435", "gene_name": "chromosome transmission fidelity factor 18", "omim_gene": [ "613201" ], "alias_name": null, "gene_symbol": "CHTF18", "hgnc_symbol": "CHTF18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:838046-850737", "ensembl_id": "ENSG00000127586" } }, "GRch38": { "90": { "location": "16:788046-800737", "ensembl_id": "ENSG00000127586" } } }, "hgnc_date_symbol_changed": "2003-04-04" }, "entity_type": "gene", "entity_name": "CHTF18", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40717333" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO#0700092, CHTF18-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": "1.753", "version_created": "2026-04-20T16:26:20.852704+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "eIF3-epsilon", "eIF3-p47", "eIF3f" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3275", "gene_name": "eukaryotic translation initiation factor 3 subunit F", "omim_gene": [ "603914" ], "alias_name": null, "gene_symbol": "EIF3F", "hgnc_symbol": "EIF3F", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:7991798-8023409", "ensembl_id": "ENSG00000175390" } }, "GRch38": { "90": { "location": "11:7970251-8001862", "ensembl_id": "ENSG00000175390" } } }, "hgnc_date_symbol_changed": "2007-07-27" }, "entity_type": "gene", "entity_name": "EIF3F", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30409806", "33736665" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mental retardation, autosomal recessive 67, MIM#\t618295" ], "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": "1.753", "version_created": "2026-04-20T16:26:20.852704+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1557", "DKFZp686G052", "FLJ30619", "BAF200" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18037", "gene_name": "AT-rich interaction domain 2", "omim_gene": [ "609539" ], "alias_name": null, "gene_symbol": "ARID2", "hgnc_symbol": "ARID2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:46123448-46301823", "ensembl_id": "ENSG00000189079" } }, "GRch38": { "90": { "location": "12:45729665-45908040", "ensembl_id": "ENSG00000189079" } } }, "hgnc_date_symbol_changed": "2004-01-28" }, "entity_type": "gene", "entity_name": "ARID2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26238514", "30838730", "29698805", "28884947", "28124119" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Coffin-Siris syndrome 6, MIM#\t617808" ], "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": "1.753", "version_created": "2026-04-20T16:26:20.852704+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HsT19268" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7437", "gene_name": "methenyltetrahydrofolate synthetase", "omim_gene": [ "604197" ], "alias_name": [ "5,10-methenyltetrahydrofolate synthetase", "5-formyltetrahydrofolate cyclo-ligase" ], "gene_symbol": "MTHFS", "hgnc_symbol": "MTHFS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:80125927-80189721", "ensembl_id": "ENSG00000136371" } }, "GRch38": { "90": { "location": "15:79833585-79897379", "ensembl_id": "ENSG00000136371" } } }, "hgnc_date_symbol_changed": "1999-07-09" }, "entity_type": "gene", "entity_name": "MTHFS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30031689", "31844630", "22303332" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367" ], "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": "1.753", "version_created": "2026-04-20T16:26:20.852704+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "beta-5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20774", "gene_name": "tubulin beta 4A class IVa", "omim_gene": [ "602662" ], "alias_name": [ "class IVa beta-tubulin" ], "gene_symbol": "TUBB4A", "hgnc_symbol": "TUBB4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:6494330-6502859", "ensembl_id": "ENSG00000104833" } }, "GRch38": { "90": { "location": "19:6494319-6502848", "ensembl_id": "ENSG00000104833" } } }, "hgnc_date_symbol_changed": "2011-10-10" }, "entity_type": "gene", "entity_name": "TUBB4A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 6, 612438", "Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438", "Dystonia 4, torsion, autosomal dominant, 128101" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "B1", "PTHB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30000", "gene_name": "Bardet-Biedl syndrome 9", "omim_gene": [ "607968" ], "alias_name": [ "parathyroid hormone responsive B1 gene" ], "gene_symbol": "BBS9", "hgnc_symbol": "BBS9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:33168856-33645680", "ensembl_id": "ENSG00000122507" } }, "GRch38": { "90": { "location": "7:33129244-33606068", "ensembl_id": "ENSG00000122507" } } }, "hgnc_date_symbol_changed": "2007-01-18" }, "entity_type": "gene", "entity_name": "BBS9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review Red", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 9, 615986" ], "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": [ "MIWC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:637", "gene_name": "aquaporin 4", "omim_gene": [ "600308" ], "alias_name": null, "gene_symbol": "AQP4", "hgnc_symbol": "AQP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:24432002-24445782", "ensembl_id": "ENSG00000171885" } }, "GRch38": { "90": { "location": "18:26852038-26865818", "ensembl_id": "ENSG00000171885" } } }, "hgnc_date_symbol_changed": "1994-07-25" }, "entity_type": "gene", "entity_name": "AQP4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37143309" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CD246" ], "biotype": "protein_coding", "hgnc_id": "HGNC:427", "gene_name": "ALK receptor tyrosine kinase", "omim_gene": [ "105590" ], "alias_name": null, "gene_symbol": "ALK", "hgnc_symbol": "ALK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:29415640-30144432", "ensembl_id": "ENSG00000171094" } }, "GRch38": { "90": { "location": "2:29192774-29921566", "ensembl_id": "ENSG00000171094" } } }, "hgnc_date_symbol_changed": "1993-08-24" }, "entity_type": "gene", "entity_name": "ALK", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32989326" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Spastic-dystonic diplegia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0517", "RNF86", "CMT2R" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15974", "gene_name": "tripartite motif containing 2", "omim_gene": [ "614141" ], "alias_name": null, "gene_symbol": "TRIM2", "hgnc_symbol": "TRIM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:154073494-154260472", "ensembl_id": "ENSG00000109654" } }, "GRch38": { "90": { "location": "4:153152342-153339320", "ensembl_id": "ENSG00000109654" } } }, "hgnc_date_symbol_changed": "2001-07-18" }, "entity_type": "gene", "entity_name": "TRIM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23562820", "25893792", "18687884", "32815244", "32205255", "25893792" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Charcot-Marie-Tooth disease, type 2R, MIM# 615490", "MONDO:0014208", "HMSN" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Talpid3", "JBTS23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19960", "gene_name": "KIAA0586", "omim_gene": [ "610178" ], "alias_name": null, "gene_symbol": "KIAA0586", "hgnc_symbol": "KIAA0586", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:58894103-59015216", "ensembl_id": "ENSG00000100578" } }, "GRch38": { "90": { "location": "14:58427385-58551289", "ensembl_id": "ENSG00000100578" } } }, "hgnc_date_symbol_changed": "2003-11-21" }, "entity_type": "gene", "entity_name": "KIAA0586", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive" ], "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": [ "FLJ36974", "MGC42174" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28648", "gene_name": "DIS3 like 3'-5' exoribonuclease 2", "omim_gene": [ "614184" ], "alias_name": null, "gene_symbol": "DIS3L2", "hgnc_symbol": "DIS3L2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:232825955-233209060", "ensembl_id": "ENSG00000144535" } }, "GRch38": { "90": { "location": "2:231961245-232344350", "ensembl_id": "ENSG00000144535" } } }, "hgnc_date_symbol_changed": "2007-01-17" }, "entity_type": "gene", "entity_name": "DIS3L2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Perlman syndrome, 267000 (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": [ "CORDX1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10295", "gene_name": "retinitis pigmentosa GTPase regulator", "omim_gene": [ "312610" ], "alias_name": null, "gene_symbol": "RPGR", "hgnc_symbol": "RPGR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:38128416-38186817", "ensembl_id": "ENSG00000156313" } }, "GRch38": { "90": { "location": "X:38269163-38327564", "ensembl_id": "ENSG00000156313" } } }, "hgnc_date_symbol_changed": "1999-04-29" }, "entity_type": "gene", "entity_name": "RPGR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30679166" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Cone-rod dystrophy, X-linked, 1, 304020" ], "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": 3147, "hash_id": null, "name": "Cone-rod Dystrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.69", "version_created": "2026-04-14T07:26:39.974051+10:00", "relevant_disorders": [ "Retinal dystrophy", "HP:0000556" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CSB", "RAD26", "ARMD5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3438", "gene_name": "ERCC excision repair 6, chromatin remodeling factor", "omim_gene": [ "609413" ], "alias_name": [ "Cockayne syndrome B protein" ], "gene_symbol": "ERCC6", "hgnc_symbol": "ERCC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:50663414-50747584", "ensembl_id": "ENSG00000225830" } }, "GRch38": { "90": { "location": "10:49455368-49539538", "ensembl_id": "ENSG00000225830" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "ERCC6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Royal Melbourne Hospital" ], "phenotypes": [ "Premature ovarian failure 11 616946" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.414", "version_created": "2026-04-13T17:24:24.650771+10:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 164, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HNL3", "KIAA1480", "ASPGX1", "AUTSX1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14289", "gene_name": "neuroligin 3", "omim_gene": [ "300336" ], "alias_name": null, "gene_symbol": "NLGN3", "hgnc_symbol": "NLGN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:70364681-70391051", "ensembl_id": "ENSG00000196338" } }, "GRch38": { "90": { "location": "X:71144831-71171201", "ensembl_id": "ENSG00000196338" } } }, "hgnc_date_symbol_changed": "2001-01-02" }, "entity_type": "gene", "entity_name": "NLGN3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Autism" ], "mode_of_inheritance": "Unknown", "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": [ "dJ794I6.2", "BTR1", "NaBC1", "FECD4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16438", "gene_name": "solute carrier family 4 member 11", "omim_gene": [ "610206" ], "alias_name": null, "gene_symbol": "SLC4A11", "hgnc_symbol": "SLC4A11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:3208063-3219836", "ensembl_id": "ENSG00000088836" } }, "GRch38": { "90": { "location": "20:3227417-3239190", "ensembl_id": "ENSG00000088836" } } }, "hgnc_date_symbol_changed": "2001-11-02" }, "entity_type": "gene", "entity_name": "SLC4A11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Corneal endothelial dystrophy" ], "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": [ "FLJ12618" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20499", "gene_name": "L-2-hydroxyglutarate dehydrogenase", "omim_gene": [ "609584" ], "alias_name": [ "2-hydroxyglutarate dehydrogenase" ], "gene_symbol": "L2HGDH", "hgnc_symbol": "L2HGDH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:50704281-50779266", "ensembl_id": "ENSG00000087299" } }, "GRch38": { "90": { "location": "14:50237563-50312548", "ensembl_id": "ENSG00000087299" } } }, "hgnc_date_symbol_changed": "2005-05-25" }, "entity_type": "gene", "entity_name": "L2HGDH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27604308", "15385440" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "L-2-hydroxyglutaric aciduria MIM#236792", "organic acidurias" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GBP", "LCEH", "LCHAD", "MTPA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4801", "gene_name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha", "omim_gene": [ "600890" ], "alias_name": [ "gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit" ], "gene_symbol": "HADHA", "hgnc_symbol": "HADHA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:26413504-26467594", "ensembl_id": "ENSG00000084754" } }, "GRch38": { "90": { "location": "2:26190635-26244726", "ensembl_id": "ENSG00000084754" } } }, "hgnc_date_symbol_changed": "1994-12-16" }, "entity_type": "gene", "entity_name": "HADHA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Trifunctional protein deficiency 609015" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "0.10", "version_created": "2023-03-02T14:41:08.610876+11:00", "relevant_disorders": [ "Hyperammonaemia", "HP:0001987" ], "stats": { "number_of_genes": 43, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CNC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9388", "gene_name": "protein kinase cAMP-dependent type I regulatory subunit alpha", "omim_gene": [ "188830" ], "alias_name": [ "Carney complex type 1" ], "gene_symbol": "PRKAR1A", "hgnc_symbol": "PRKAR1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:66507921-66547460", "ensembl_id": "ENSG00000108946" } }, "GRch38": { "90": { "location": "17:68511780-68551319", "ensembl_id": "ENSG00000108946" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "PRKAR1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other - please provide details in the comments", "publications": [ "22464250", "21651393" ], "evidence": [ "Genomics England PanelApp", "Expert Review Green" ], "phenotypes": [ "Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones", "Acrodysostosis 1, with or without hormone resistance, 101800" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3471, "hash_id": null, "name": "Congenital hypothyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.120", "version_created": "2026-04-02T11:51:29.895216+11:00", "relevant_disorders": [ "Hypothyroidism HP:0000821" ], "stats": { "number_of_genes": 63, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "THP2", "HPE9", "THP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4318", "gene_name": "GLI family zinc finger 2", "omim_gene": [ "165230" ], "alias_name": [ "tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2" ], "gene_symbol": "GLI2", "hgnc_symbol": "GLI2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:121493199-121750229", "ensembl_id": "ENSG00000074047" } }, "GRch38": { "90": { "location": "2:120735623-120992653", "ensembl_id": "ENSG00000074047" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "GLI2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14581620", "17096318", "33235745", "27585885", "15994174", "20685856", "30629636", "30583238" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Culler-Jones syndrome, MIM#615849", "Holoprosencephaly 9, MIM# 61082" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1082", "NET22" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1337", "gene_name": "lysine demethylase 3B", "omim_gene": [ "609373" ], "alias_name": null, "gene_symbol": "KDM3B", "hgnc_symbol": "KDM3B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:137688285-137772717", "ensembl_id": "ENSG00000120733" } }, "GRch38": { "90": { "location": "5:138352596-138437028", "ensembl_id": "ENSG00000120733" } } }, "hgnc_date_symbol_changed": "2009-04-06" }, "entity_type": "gene", "entity_name": "KDM3B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30929739" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Diets-Jongmans syndrome, MIM# 618846", "Intellectual disability", "short stature", "deafness" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10842" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21869", "gene_name": "acylglycerol kinase", "omim_gene": [ "610345" ], "alias_name": null, "gene_symbol": "AGK", "hgnc_symbol": "AGK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:141250989-141355044", "ensembl_id": "ENSG00000006530" } }, "GRch38": { "90": { "location": "7:141551189-141655244", "ensembl_id": "ENSG00000006530" } } }, "hgnc_date_symbol_changed": "2007-01-11" }, "entity_type": "gene", "entity_name": "AGK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Sengers syndrome, MIM#212350" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FAF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3587", "gene_name": "Fanconi anemia complementation group F", "omim_gene": [ "613897" ], "alias_name": null, "gene_symbol": "FANCF", "hgnc_symbol": "FANCF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:22644079-22647387", "ensembl_id": "ENSG00000183161" } }, "GRch38": { "90": { "location": "11:22622519-22626787", "ensembl_id": "ENSG00000183161" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "FANCF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301575", "10615118", "31288759" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Literature", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fanconi anaemia, complementation group F 603467", "MONDO:0011325" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Kir6.2", "BIR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6257", "gene_name": "potassium voltage-gated channel subfamily J member 11", "omim_gene": [ "600937" ], "alias_name": null, "gene_symbol": "KCNJ11", "hgnc_symbol": "KCNJ11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:17407406-17410878", "ensembl_id": "ENSG00000187486" } }, "GRch38": { "90": { "location": "11:17385859-17389331", "ensembl_id": "ENSG00000187486" } } }, "hgnc_date_symbol_changed": "1997-09-12" }, "entity_type": "gene", "entity_name": "KCNJ11", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15115830", "17327377" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Diabetes mellitus, transient neonatal 3 (MIM#610582)", "Diabetes, permanent neonatal 2, with or without neurologic features (MIM#618856)" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28823707", "28823706" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 11, MIM# 617695" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SL15", "Lec35", "PQLC5", "CDGIf" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7207", "gene_name": "mannose-P-dolichol utilization defect 1", "omim_gene": [ "604041" ], "alias_name": null, "gene_symbol": "MPDU1", "hgnc_symbol": "MPDU1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7486847-7496107", "ensembl_id": "ENSG00000129255" } }, "GRch38": { "90": { "location": "17:7583529-7592789", "ensembl_id": "ENSG00000129255" } } }, "hgnc_date_symbol_changed": "1999-05-25" }, "entity_type": "gene", "entity_name": "MPDU1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11733564", "11733556", "31741824", "29721919" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Congenital disorder of glycosylation, type If, MIM# 609180", "MPDU1-CDG, MONDO:0012211" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MASP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6901", "gene_name": "mannan binding lectin serine peptidase 1", "omim_gene": [ "600521" ], "alias_name": [ "C4/C2 activating component of Ra-reactive factor" ], "gene_symbol": "MASP1", "hgnc_symbol": "MASP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:186935942-187009810", "ensembl_id": "ENSG00000127241" } }, "GRch38": { "90": { "location": "3:187217285-187292022", "ensembl_id": "ENSG00000127241" } } }, "hgnc_date_symbol_changed": "1995-07-06" }, "entity_type": "gene", "entity_name": "MASP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26789649", "21258343", "21035106" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "3MC syndrome 1, MIM# 257920", "MONDO:0009770" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4396", "gene_name": "G protein subunit beta 1", "omim_gene": [ "139380" ], "alias_name": [ "transducin beta chain 1", "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1" ], "gene_symbol": "GNB1", "hgnc_symbol": "GNB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:1716729-1822495", "ensembl_id": "ENSG00000078369" } }, "GRch38": { "90": { "location": "1:1785285-1891117", "ensembl_id": "ENSG00000078369" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GNB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32134617", "27108799", "30194818", "27668284", "31034681" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 42, MIM# 616973", "intellectual disability, autosomal dominant 42 MONDO:0014855" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "VRP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12682", "gene_name": "vascular endothelial growth factor C", "omim_gene": [ "601528" ], "alias_name": [ "vascular endothelial growth factor-related protein" ], "gene_symbol": "VEGFC", "hgnc_symbol": "VEGFC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:177604689-177713881", "ensembl_id": "ENSG00000150630" } }, "GRch38": { "90": { "location": "4:176683538-176792727", "ensembl_id": "ENSG00000150630" } } }, "hgnc_date_symbol_changed": "1996-10-26" }, "entity_type": "gene", "entity_name": "VEGFC", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Lymphatic malformation 4, MIM# 615907" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC3279", "CL-K1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17213", "gene_name": "collectin subfamily member 11", "omim_gene": [ "612502" ], "alias_name": [ "Collectin K1" ], "gene_symbol": "COLEC11", "hgnc_symbol": "COLEC11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:3642426-3692048", "ensembl_id": "ENSG00000118004" } }, "GRch38": { "90": { "location": "2:3594832-3644644", "ensembl_id": "ENSG00000118004" } } }, "hgnc_date_symbol_changed": "2001-11-20" }, "entity_type": "gene", "entity_name": "COLEC11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21258343", "26789649", "28301481" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "3MC syndrome 2, MIM# 265050" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32029", "BM32A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20898", "gene_name": "phosphoglucomutase 2 like 1", "omim_gene": [ "611610" ], "alias_name": [ "glucose-1,6-bisphosphate synthase" ], "gene_symbol": "PGM2L1", "hgnc_symbol": "PGM2L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:74041363-74109518", "ensembl_id": "ENSG00000165434" } }, "GRch38": { "90": { "location": "11:74330318-74398473", "ensembl_id": "ENSG00000165434" } } }, "hgnc_date_symbol_changed": "2004-01-20" }, "entity_type": "gene", "entity_name": "PGM2L1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33979636" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Neurodevelopmental disorder", "obesity" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3764, "hash_id": null, "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.", "status": "public", "version": "1.32", "version_created": "2026-04-20T20:39:13.285624+10:00", "relevant_disorders": [ "Obesity", "HP:0001513" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PPI5PIV", "CORS1", "pharbin" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21474", "gene_name": "inositol polyphosphate-5-phosphatase E", "omim_gene": [ "613037" ], "alias_name": null, "gene_symbol": "INPP5E", "hgnc_symbol": "INPP5E", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139323071-139334274", "ensembl_id": "ENSG00000148384" } }, "GRch38": { "90": { "location": "9:136428619-136439823", "ensembl_id": "ENSG00000148384" } } }, "hgnc_date_symbol_changed": "2003-06-13" }, "entity_type": "gene", "entity_name": "INPP5E", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31173343", "19668215" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3764, "hash_id": null, "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.", "status": "public", "version": "1.32", "version_created": "2026-04-20T20:39:13.285624+10:00", "relevant_disorders": [ "Obesity", "HP:0001513" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7108", "gene_name": "McKusick-Kaufman syndrome", "omim_gene": [ "604896" ], "alias_name": null, "gene_symbol": "MKKS", "hgnc_symbol": "MKKS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:10381657-10414870", "ensembl_id": "ENSG00000125863" } }, "GRch38": { "90": { "location": "20:10401009-10434222", "ensembl_id": "ENSG00000125863" } } }, "hgnc_date_symbol_changed": "1998-09-08" }, "entity_type": "gene", "entity_name": "MKKS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10973251" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Bardet-Biedl syndrome 6, OMIM:605231", "Obesity" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3764, "hash_id": null, "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.", "status": "public", "version": "1.32", "version_created": "2026-04-20T20:39:13.285624+10:00", "relevant_disorders": [ "Obesity", "HP:0001513" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2211", "gene_name": "collagen type VI alpha 1 chain", "omim_gene": [ "120220" ], "alias_name": null, "gene_symbol": "COL6A1", "hgnc_symbol": "COL6A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:47401651-47424964", "ensembl_id": "ENSG00000142156" } }, "GRch38": { "90": { "location": "21:45981737-46005050", "ensembl_id": "ENSG00000142156" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL6A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301676", "25535305", "15955946", "23738969", "29277723", "24443028" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ullrich congenital muscular dystrophy 1, 254090 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11598", "gene_name": "T-box 20", "omim_gene": [ "606061" ], "alias_name": null, "gene_symbol": "TBX20", "hgnc_symbol": "TBX20", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:35242042-35293758", "ensembl_id": "ENSG00000164532" } }, "GRch38": { "90": { "location": "7:35202430-35254147", "ensembl_id": "ENSG00000164532" } } }, "hgnc_date_symbol_changed": "2000-08-31" }, "entity_type": "gene", "entity_name": "TBX20", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Congenital heart disease" ], "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": [ "FLJ20157", "AOA", "AOA1", "EAOH", "EOAHA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15984", "gene_name": "aprataxin", "omim_gene": [ "606350" ], "alias_name": null, "gene_symbol": "APTX", "hgnc_symbol": "APTX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:32972604-33025166", "ensembl_id": "ENSG00000137074" } }, "GRch38": { "90": { "location": "9:32972606-33025168", "ensembl_id": "ENSG00000137074" } } }, "hgnc_date_symbol_changed": "2001-07-16" }, "entity_type": "gene", "entity_name": "APTX", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30986824", "26256098", "11586299" ], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cav1.2", "CACH2", "CACN2", "TS", "LQT8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1390", "gene_name": "calcium voltage-gated channel subunit alpha1 C", "omim_gene": [ "114205" ], "alias_name": null, "gene_symbol": "CACNA1C", "hgnc_symbol": "CACNA1C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:2079952-2802108", "ensembl_id": "ENSG00000151067" } }, "GRch38": { "90": { "location": "12:1970786-2697950", "ensembl_id": "ENSG00000151067" } } }, "hgnc_date_symbol_changed": "1991-01-30" }, "entity_type": "gene", "entity_name": "CACNA1C", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "BabySeq Category B gene", "BeginNGS" ], "phenotypes": [ "Timothy syndrome, MIM#\t601005", "Brugada syndrome", "Long QT syndrome 8, MIM#\t618447" ], "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:2698", "gene_name": "dihydrolipoamide branched chain transacylase E2", "omim_gene": [ "248610" ], "alias_name": [ "dihydrolipoyllysine-residue (2-methylpropanoyl)transferase", "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial" ], "gene_symbol": "DBT", "hgnc_symbol": "DBT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:100652475-100715390", "ensembl_id": "ENSG00000137992" } }, "GRch38": { "90": { "location": "1:100186919-100249834", "ensembl_id": "ENSG00000137992" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "DBT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Maple syrup urine disease, MIM#248600" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6081", "gene_name": "insulin", "omim_gene": [ "176730" ], "alias_name": null, "gene_symbol": "INS", "hgnc_symbol": "INS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:2181009-2182571", "ensembl_id": "ENSG00000254647" } }, "GRch38": { "90": { "location": "11:2159779-2161341", "ensembl_id": "ENSG00000254647" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "INS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BeginNGS", "Expert list" ], "phenotypes": [ "Diabetes mellitus, insulin-dependent, 2, MIM# 125852", "Diabetes mellitus, permanent neonatal 4, MIM# 618858", "Maturity-onset diabetes of the young, type 10, MIM# 613370" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "for review", "treatable", "endocrine" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ALK-5", "ACVRLK4", "ALK5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11772", "gene_name": "transforming growth factor beta receptor 1", "omim_gene": [ "190181" ], "alias_name": [ "activin A receptor type II-like kinase, 53kDa" ], "gene_symbol": "TGFBR1", "hgnc_symbol": "TGFBR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:101866320-101916474", "ensembl_id": "ENSG00000106799" } }, "GRch38": { "90": { "location": "9:99104038-99154192", "ensembl_id": "ENSG00000106799" } } }, "hgnc_date_symbol_changed": "1993-09-30" }, "entity_type": "gene", "entity_name": "TGFBR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Loeys-Dietz syndrome 1, MIM# 609192" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "cardiac", "treatable" ], "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": [ "Sans", "FLJ33924", "ANKS4A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16356", "gene_name": "USH1 protein network component sans", "omim_gene": [ "607696" ], "alias_name": null, "gene_symbol": "USH1G", "hgnc_symbol": "USH1G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:72912176-72919351", "ensembl_id": "ENSG00000182040" } }, "GRch38": { "90": { "location": "17:74916084-74923256", "ensembl_id": "ENSG00000182040" } } }, "hgnc_date_symbol_changed": "2001-12-07" }, "entity_type": "gene", "entity_name": "USH1G", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301442" ], "evidence": [ "Expert Review Green", "BabySeq Category A gene" ], "phenotypes": [ "Usher syndrome type 1 MIM#606943" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "deafness" ], "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": [ "JNK3", "p493F12", "p54bSAPK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6872", "gene_name": "mitogen-activated protein kinase 10", "omim_gene": [ "602897" ], "alias_name": null, "gene_symbol": "MAPK10", "hgnc_symbol": "MAPK10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:86936276-87515284", "ensembl_id": "ENSG00000109339" } }, "GRch38": { "90": { "location": "4:85990007-86594625", "ensembl_id": "ENSG00000109339" } } }, "hgnc_date_symbol_changed": "1998-04-28" }, "entity_type": "gene", "entity_name": "MAPK10", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Epileptic encephalopathy" ], "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:10547", "gene_name": "sterol-C5-desaturase", "omim_gene": [ "602286" ], "alias_name": [ "lathosterol oxidase" ], "gene_symbol": "SC5D", "hgnc_symbol": "SC5D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:121163162-121179403", "ensembl_id": "ENSG00000109929" } }, "GRch38": { "90": { "location": "11:121292453-121308694", "ensembl_id": "ENSG00000109929" } } }, "hgnc_date_symbol_changed": "2013-03-04" }, "entity_type": "gene", "entity_name": "SC5D", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Lathosterolosis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Gpcr13", "H218", "AGR16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3169", "gene_name": "sphingosine-1-phosphate receptor 2", "omim_gene": [ "605111" ], "alias_name": null, "gene_symbol": "S1PR2", "hgnc_symbol": "S1PR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:10334520-10341948", "ensembl_id": "ENSG00000267534" } }, "GRch38": { "90": { "location": "19:10221435-10231272", "ensembl_id": "ENSG00000267534" } } }, "hgnc_date_symbol_changed": "2008-04-30" }, "entity_type": "gene", "entity_name": "S1PR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "Deafness, autosomal recessive 68, MIM# 610419" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "deafness" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0441", "BIF1", "PATZ2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21143", "gene_name": "zinc finger and BTB domain containing 24", "omim_gene": [ "614064" ], "alias_name": [ "POZ (BTB) and AT hook containing zinc finger 2" ], "gene_symbol": "ZBTB24", "hgnc_symbol": "ZBTB24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:109783797-109804440", "ensembl_id": "ENSG00000112365" } }, "GRch38": { "90": { "location": "6:109462594-109483237", "ensembl_id": "ENSG00000112365" } } }, "hgnc_date_symbol_changed": "2004-04-16" }, "entity_type": "gene", "entity_name": "ZBTB24", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 28128455, 21906047, 21596365, 23486536" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "immunological" ], "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": [ "WIP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12736", "gene_name": "WAS/WASL interacting protein family member 1", "omim_gene": [ "602357" ], "alias_name": null, "gene_symbol": "WIPF1", "hgnc_symbol": "WIPF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:175424300-175547644", "ensembl_id": "ENSG00000115935" } }, "GRch38": { "90": { "location": "2:174559572-174682916", "ensembl_id": "ENSG00000115935" } } }, "hgnc_date_symbol_changed": "2006-10-12" }, "entity_type": "gene", "entity_name": "WIPF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 27742395, PMID: 30450104, PMID: 22231303" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Wiskott-Aldrich syndrome 2 MIM#614493" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "immunological", "haematological" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SERCA2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:812", "gene_name": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2", "omim_gene": [ "108740" ], "alias_name": [ "sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2" ], "gene_symbol": "ATP2A2", "hgnc_symbol": "ATP2A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:110718561-110788898", "ensembl_id": "ENSG00000174437" } }, "GRch38": { "90": { "location": "12:110280756-110351093", "ensembl_id": "ENSG00000174437" } } }, "hgnc_date_symbol_changed": "1990-09-10" }, "entity_type": "gene", "entity_name": "ATP2A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10080178", "31911771" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Darier disease MONDO:0007417" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4093, "hash_id": null, "name": "Facial papules", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with diseases where facial papules and lesions can be a predominant feature of the phenotype, including coarse facies. It was developed by Prof Ingrid Winship from Royal Melbourne Hospital for use in the Genodermatosis clinic.", "status": "public", "version": "1.1", "version_created": "2026-01-12T09:37:15.457047+11:00", "relevant_disorders": [ "Papule HP:0200034" ], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PMP35", "PAF-1", "RNF72", "ZWS3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9717", "gene_name": "peroxisomal biogenesis factor 2", "omim_gene": [ "170993" ], "alias_name": [ "Zellweger syndrome", "peroxin 2" ], "gene_symbol": "PEX2", "hgnc_symbol": "PEX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:77892494-77913280", "ensembl_id": "ENSG00000164751" } }, "GRch38": { "90": { "location": "8:76980258-77001044", "ensembl_id": "ENSG00000164751" } } }, "hgnc_date_symbol_changed": "2010-01-25" }, "entity_type": "gene", "entity_name": "PEX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14630978", "10528859", "23430938", "1546315" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866", "Peroxisome biogenesis disorder 5B, MIM#614867" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4180", "gene_name": "1,4-alpha-glucan branching enzyme 1", "omim_gene": [ "607839" ], "alias_name": [ "glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV" ], "gene_symbol": "GBE1", "hgnc_symbol": "GBE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:81538850-81811312", "ensembl_id": "ENSG00000114480" } }, "GRch38": { "90": { "location": "3:81489699-81762161", "ensembl_id": "ENSG00000114480" } } }, "hgnc_date_symbol_changed": "1993-06-21" }, "entity_type": "gene", "entity_name": "GBE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Glycogen storage disease IV, MIM#232500" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FP", "SDHF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10680", "gene_name": "succinate dehydrogenase complex flavoprotein subunit A", "omim_gene": [ "600857" ], "alias_name": [ "succinate dehydrogenase [ubiquinone] flavoprotein subunit", "flavoprotein subunit of complex II" ], "gene_symbol": "SDHA", "hgnc_symbol": "SDHA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:218356-256815", "ensembl_id": "ENSG00000073578" } }, "GRch38": { "90": { "location": "5:218241-256700", "ensembl_id": "ENSG00000073578" } } }, "hgnc_date_symbol_changed": "1995-10-24" }, "entity_type": "gene", "entity_name": "SDHA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Paragangliomas 5, MONDO:0013602", "Pheochromocytoma, MONDO:0008233", "Hereditary pheochromocytoma-paraganglioma, MONDO:0017366", "Pheochromocytoma/paraganglioma syndrome 5, MIM#614165" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4365, "hash_id": null, "name": "Paraganglioma_phaeochromocytoma", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with paraganglioma and phaeochromocytoma. \r\n\r\nFurther information on the testing criteria for paraganglioma and phaeochromocytoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3601-paraganglioma-phaeochromocytoma-panel-testi\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with paraganglioma and phaeochromocytoma and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.2", "version_created": "2026-01-12T09:39:17.151164+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 18, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "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": [ "Wilms tumor, MONDO:0006058", "Fanconi anemia complementation group D1,MONDO:0011584", "Fanconi anemia, complementation group D1, MIM#605724" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4366, "hash_id": null, "name": "Wilms Tumour", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with Wilms tumour. \r\n\r\nFurther information on the testing criteria for Wilms tumour can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3703-wilms-tumour-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 Wilms tumour 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\nWhere Beckwith-Wiedemann Syndrome (BWS) is suspected it is more appropriate to start with methylation studies of 11p15 BWS region in blood and tissue.\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": "2025-09-05T08:17:06.102713+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NOD5", "GC-LRR", "Nalp-iota", "PAN8", "CLR11.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22939", "gene_name": "NLR family pyrin domain containing 14", "omim_gene": [ "609665" ], "alias_name": [ "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14" ], "gene_symbol": "NLRP14", "hgnc_symbol": "NLRP14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:7041677-7092539", "ensembl_id": "ENSG00000158077" } }, "GRch38": { "90": { "location": "11:7020446-7071308", "ensembl_id": "ENSG00000158077" } } }, "hgnc_date_symbol_changed": "2006-12-08" }, "entity_type": "gene", "entity_name": "NLRP14", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38060382" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Inherited oocyte maturation defect, MONDO:0014769, NLRP14-related and early embryo arrest" ], "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": "1.146", "version_created": "2026-04-20T19:07:38.334107+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 266, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OST", "KIAA0115", "OST48", "WBP1", "GATD6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2728", "gene_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit", "omim_gene": [ "602202" ], "alias_name": [ "oligosaccharyltransferase subunit 48", "advanced glycation end-product receptor 1" ], "gene_symbol": "DDOST", "hgnc_symbol": "DDOST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:20978270-20988000", "ensembl_id": "ENSG00000244038" } }, "GRch38": { "90": { "location": "1:20651767-20661544", "ensembl_id": "ENSG00000244038" } } }, "hgnc_date_symbol_changed": "1997-12-23" }, "entity_type": "gene", "entity_name": "DDOST", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41005306" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "inherited oocyte maturation defect MONDO:0014769" ], "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": "1.146", "version_created": "2026-04-20T19:07:38.334107+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 266, "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:13998", "gene_name": "PR/SET domain 13", "omim_gene": [ "616741" ], "alias_name": null, "gene_symbol": "PRDM13", "hgnc_symbol": "PRDM13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:100054606-100063454", "ensembl_id": "ENSG00000112238" } }, "GRch38": { "90": { "location": "6:99606730-99615578", "ensembl_id": "ENSG00000112238" } } }, "hgnc_date_symbol_changed": "2000-11-28" }, "entity_type": "gene", "entity_name": "PRDM13", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34730112" ], "evidence": [ "Literature", "Expert Review Amber", "Expert Review Amber", "Literature" ], "phenotypes": [ "Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.115", "version_created": "2026-04-12T14:11:38.693654+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 84, "number_of_strs": 0, "number_of_regions": 1 }, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8522", "gene_name": "orthodenticle homeobox 2", "omim_gene": [ "600037" ], "alias_name": null, "gene_symbol": "OTX2", "hgnc_symbol": "OTX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:57267425-57277197", "ensembl_id": "ENSG00000165588" } }, "GRch38": { "90": { "location": "14:56799905-56810479", "ensembl_id": "ENSG00000165588" } } }, "hgnc_date_symbol_changed": "1994-02-08" }, "entity_type": "gene", "entity_name": "OTX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19965921", "22715480", "18628516", "18728160" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Pituitary hormone deficiency, combined, 6 (613986)", "Microphthalmia, syndromic 5 (610125)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4523, "hash_id": null, "name": "Adrenal insufficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.", "status": "public", "version": "0.76", "version_created": "2026-03-19T16:21:18.336273+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null } ] }