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Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.52","version_created":"2026-04-23T10:59:57.828482+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UFO","JTK11","Tyro7","ARK"],"biotype":"protein_coding","hgnc_id":"HGNC:905","gene_name":"AXL receptor tyrosine kinase","omim_gene":["109135"],"alias_name":null,"gene_symbol":"AXL","hgnc_symbol":"AXL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41725108-41767671","ensembl_id":"ENSG00000167601"}},"GRch38":{"90":{"location":"19:41219203-41261766","ensembl_id":"ENSG00000167601"}}},"hgnc_date_symbol_changed":"1992-09-15"},"entity_type":"gene","entity_name":"AXL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24476074"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Hypogonadotropic hypogonadism, MONDO:0018555, AXL-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.52","version_created":"2026-04-23T10:59:57.828482+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["K10","CK10"],"biotype":"protein_coding","hgnc_id":"HGNC:6413","gene_name":"keratin 10","omim_gene":["148080"],"alias_name":["cytokeratin 10","epidermolytic hyperkeratosis"],"gene_symbol":"KRT10","hgnc_symbol":"KRT10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:38974369-38978847","ensembl_id":"ENSG00000186395"}},"GRch38":{"90":{"location":"17:40818117-40822595","ensembl_id":"ENSG00000186395"}}},"hgnc_date_symbol_changed":"1988-08-12"},"entity_type":"gene","entity_name":"KRT10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["1380725","1381287","7508181","20798280","16505000","18219278","19474805"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epidermolytic hyperkeratosis (MIM#113800)","Ichthyosis with confetti (MIM#609165)","Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":101,"hash_id":null,"name":"Epidermolysis bullosa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["TIGR","JOAG1"],"biotype":"protein_coding","hgnc_id":"HGNC:7610","gene_name":"myocilin","omim_gene":["601652"],"alias_name":["trabecular meshwork inducible glucocorticoid response protein","juvenile-onset open-angle glaucoma 1"],"gene_symbol":"MYOC","hgnc_symbol":"MYOC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:171604557-171621823","ensembl_id":"ENSG00000034971"}},"GRch38":{"90":{"location":"1:171635417-171652683","ensembl_id":"ENSG00000034971"}}},"hgnc_date_symbol_changed":"1997-01-10"},"entity_type":"gene","entity_name":"MYOC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9535666"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glaucoma 1A, primary open angle, MIM# 137750"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":105,"hash_id":null,"name":"Glaucoma congenital","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Glaucoma (developmental)' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England, 7/8/2020.","status":"public","version":"1.12","version_created":"2026-04-07T13:50:17.268940+10:00","relevant_disorders":["Glaucoma","HP:0000501"],"stats":{"number_of_genes":28,"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":["RTS","CBP","KAT3A"],"biotype":"protein_coding","hgnc_id":"HGNC:2348","gene_name":"CREB binding protein","omim_gene":["600140"],"alias_name":null,"gene_symbol":"CREBBP","hgnc_symbol":"CREBBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3775055-3930727","ensembl_id":"ENSG00000005339"}},"GRch38":{"90":{"location":"16:3725054-3880726","ensembl_id":"ENSG00000005339"}}},"hgnc_date_symbol_changed":"1995-01-10"},"entity_type":"gene","entity_name":"CREBBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31137009","33442921","2240025","31414570","33043588"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Rubinstein-Taybi syndrome 1, OMIM #180849"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":118,"hash_id":null,"name":"Hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing","status":"public","version":"1.51","version_created":"2026-03-09T16:58:00.909830+11:00","relevant_disorders":["Hyperinsulinaemia","HP:0000842;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":35,"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["VIP-21","LGMD1C","VIP21","LQT9"],"biotype":"protein_coding","hgnc_id":"HGNC:1529","gene_name":"caveolin 3","omim_gene":["601253"],"alias_name":["M-caveolin"],"gene_symbol":"CAV3","hgnc_symbol":"CAV3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:8775486-8883492","ensembl_id":"ENSG00000182533"}},"GRch38":{"90":{"location":"3:8733800-8841808","ensembl_id":"ENSG00000182533"}}},"hgnc_date_symbol_changed":"1998-05-14"},"entity_type":"gene","entity_name":"CAV3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31983240","17060380"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome 9, MIM# 611818"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GAS","GALNAC6S"],"biotype":"protein_coding","hgnc_id":"HGNC:4122","gene_name":"galactosamine (N-acetyl)-6-sulfatase","omim_gene":["612222"],"alias_name":["Morquio syndrome","mucopolysaccharidosis type IVA"],"gene_symbol":"GALNS","hgnc_symbol":"GALNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88880142-88923378","ensembl_id":"ENSG00000141012"}},"GRch38":{"90":{"location":"16:88813734-88856970","ensembl_id":"ENSG00000141012"}}},"hgnc_date_symbol_changed":"1992-02-21"},"entity_type":"gene","entity_name":"GALNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DT1P1A10","RP1-112K5.2","WGG1"],"biotype":"protein_coding","hgnc_id":"HGNC:25455","gene_name":"TSR2, ribosome maturation factor","omim_gene":["300945"],"alias_name":["WGG motif containing 1"],"gene_symbol":"TSR2","hgnc_symbol":"TSR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:54466834-54471920","ensembl_id":"ENSG00000158526"}},"GRch38":{"90":{"location":"X:54440401-54445487","ensembl_id":"ENSG00000158526"}}},"hgnc_date_symbol_changed":"2006-07-03"},"entity_type":"gene","entity_name":"TSR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24942156"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":136,"hash_id":null,"name":"Mandibulofacial Acrofacial dysostosis","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 contains genes associated with the facial dysostoses, which can be subdivided into mandibulofacial dysostoses, which present with craniofacial defects only, and acrofacial dysostoses, which encompass both craniofacial and limb anomalies. Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.","status":"public","version":"1.22","version_created":"2026-03-25T17:21:58.910310+11:00","relevant_disorders":["Craniofacial dysostosis","HP:0004439"],"stats":{"number_of_genes":35,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PK2","BV8","MIT1","KAL4"],"biotype":"protein_coding","hgnc_id":"HGNC:18455","gene_name":"prokineticin 2","omim_gene":["607002"],"alias_name":["protein Bv8 homolog"],"gene_symbol":"PROK2","hgnc_symbol":"PROK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:71820807-71834357","ensembl_id":"ENSG00000163421"}},"GRch38":{"90":{"location":"3:71771656-71785206","ensembl_id":"ENSG00000163421"}}},"hgnc_date_symbol_changed":"2002-07-22"},"entity_type":"gene","entity_name":"PROK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18559922","17054399","17959774","18285834"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PGIV","MGC793"],"biotype":"protein_coding","hgnc_id":"HGNC:7692","gene_name":"NADH:ubiquinone oxidoreductase subunit A8","omim_gene":["603359"],"alias_name":["complex I PGIV subunit"],"gene_symbol":"NDUFA8","hgnc_symbol":"NDUFA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:124894745-124922098","ensembl_id":"ENSG00000119421"}},"GRch38":{"90":{"location":"9:122144058-122159819","ensembl_id":"ENSG00000119421"}}},"hgnc_date_symbol_changed":"1997-12-17"},"entity_type":"gene","entity_name":"NDUFA8","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32385911","33153867"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272","Developmental delay","microcehaly","seizures"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:713","gene_name":"arylsulfatase A","omim_gene":["607574"],"alias_name":["metachromatic leucodystrophy"],"gene_symbol":"ARSA","hgnc_symbol":"ARSA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:51061182-51066607","ensembl_id":"ENSG00000100299"}},"GRch38":{"90":{"location":"22:50622754-50628173","ensembl_id":"ENSG00000100299"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ARSA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Metachromatic leukodystrophy, MIM#250100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BMD","BEST","RP50"],"biotype":"protein_coding","hgnc_id":"HGNC:12703","gene_name":"bestrophin 1","omim_gene":["607854"],"alias_name":["Best disease"],"gene_symbol":"BEST1","hgnc_symbol":"BEST1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61717293-61732987","ensembl_id":"ENSG00000167995"}},"GRch38":{"90":{"location":"11:61949821-61965515","ensembl_id":"ENSG00000167995"}}},"hgnc_date_symbol_changed":"2006-10-18"},"entity_type":"gene","entity_name":"BEST1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["29668979"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bestrophinopathy, autosomal recessive, MIM#\t611809","Macular dystrophy, vitelliform, 2 MIM#\t153700","Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, MIM#\t193220","Retinitis pigmentosa-50, MIM#\t613194","Retinitis pigmentosa, concentric, MIM#\t61319","Vitreoretinochoroidopathy,MIM#\t193220"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC13040"],"biotype":"protein_coding","hgnc_id":"HGNC:28188","gene_name":"chromosome 11 open reading frame 70","omim_gene":null,"alias_name":null,"gene_symbol":"C11orf70","hgnc_symbol":"C11orf70","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:101918174-101955291","ensembl_id":"ENSG00000137691"}},"GRch38":{"90":{"location":"11:102047443-102084560","ensembl_id":"ENSG00000137691"}}},"hgnc_date_symbol_changed":"2006-03-31"},"entity_type":"gene","entity_name":"C11orf70","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29727693","29727692"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 38, MIM# 618063"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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. 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GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20069","ORF1","JBTS3"],"biotype":"protein_coding","hgnc_id":"HGNC:21575","gene_name":"Abelson helper integration site 1","omim_gene":["608894"],"alias_name":["Jouberin"],"gene_symbol":"AHI1","hgnc_symbol":"AHI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:135604670-135818914","ensembl_id":"ENSG00000135541"}},"GRch38":{"90":{"location":"6:135283532-135497776","ensembl_id":"ENSG00000135541"}}},"hgnc_date_symbol_changed":"2003-08-22"},"entity_type":"gene","entity_name":"AHI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PubMed: 15322546","15467982","16453322","29146704"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 3, MIM#608629"],"mode_of_inheritance":"BIALLELIC, autosomal or 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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":"1.410","version_created":"2026-04-24T13:36:55.078812+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":["ADAR1"],"biotype":"protein_coding","hgnc_id":"HGNC:225","gene_name":"adenosine deaminase, RNA specific","omim_gene":["146920"],"alias_name":null,"gene_symbol":"ADAR","hgnc_symbol":"ADAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154554538-154600475","ensembl_id":"ENSG00000160710"}},"GRch38":{"90":{"location":"1:154582062-154627999","ensembl_id":"ENSG00000160710"}}},"hgnc_date_symbol_changed":"1995-12-12"},"entity_type":"gene","entity_name":"ADAR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Aicardi-Goutieres syndrome 6, MIM# 615010","Dyschromatosis symmetrica hereditaria, MIM# 127400"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. 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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":"1.410","version_created":"2026-04-24T13:36:55.078812+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":["FLJ20487","SDH5"],"biotype":"protein_coding","hgnc_id":"HGNC:26034","gene_name":"succinate dehydrogenase complex assembly factor 2","omim_gene":["613019"],"alias_name":null,"gene_symbol":"SDHAF2","hgnc_symbol":"SDHAF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61197514-61215001","ensembl_id":"ENSG00000167985"}},"GRch38":{"90":{"location":"11:61430042-61447529","ensembl_id":"ENSG00000167985"}}},"hgnc_date_symbol_changed":"2009-08-10"},"entity_type":"gene","entity_name":"SDHAF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Paragangliomas 2, MIM# 601650"],"mode_of_inheritance":"Unknown","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":["SCO1L"],"biotype":"protein_coding","hgnc_id":"HGNC:10604","gene_name":"SCO2, cytochrome c oxidase assembly protein","omim_gene":["604272"],"alias_name":null,"gene_symbol":"SCO2","hgnc_symbol":"SCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50961997-50964868","ensembl_id":"ENSG00000130489"}},"GRch38":{"90":{"location":"22:50523568-50525606","ensembl_id":"ENSG00000130489"}}},"hgnc_date_symbol_changed":"1999-10-12"},"entity_type":"gene","entity_name":"SCO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10545952","11673586","18924171","20159436","29351582","26427993","31844624"],"evidence":["Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377"],"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 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1"],"gene_symbol":"HSD17B4","hgnc_symbol":"HSD17B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:118788138-118972894","ensembl_id":"ENSG00000133835"}},"GRch38":{"90":{"location":"5:119452443-119637199","ensembl_id":"ENSG00000133835"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"HSD17B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum 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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":["MGC14993","MGC23778","PRO1992","dJ382I10.6","DALRD2"],"biotype":"protein_coding","hgnc_id":"HGNC:21406","gene_name":"arginyl-tRNA synthetase 2, mitochondrial","omim_gene":["611524"],"alias_name":["arginine tRNA ligase 2, mitochondrial 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ligase"],"gene_symbol":"EPRS","hgnc_symbol":"EPRS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:220141943-220220000","ensembl_id":"ENSG00000136628"}},"GRch38":{"90":{"location":"1:219968601-220046658","ensembl_id":"ENSG00000136628"}}},"hgnc_date_symbol_changed":"1991-02-20"},"entity_type":"gene","entity_name":"EPRS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36411955, 29576217"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 15, MIM#617951"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP564F0923","KIAA1471","HD-PTP"],"biotype":"protein_coding","hgnc_id":"HGNC:14406","gene_name":"protein tyrosine phosphatase, non-receptor type 23","omim_gene":["606584"],"alias_name":null,"gene_symbol":"PTPN23","hgnc_symbol":"PTPN23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:47422501-47454931","ensembl_id":"ENSG00000076201"}},"GRch38":{"90":{"location":"3:47381011-47413441","ensembl_id":"ENSG00000076201"}}},"hgnc_date_symbol_changed":"2001-02-15"},"entity_type":"gene","entity_name":"PTPN23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30561130","28017832"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Autosomal recessive keratoderma-ichthyosis-deafness"],"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":["fumarase"],"biotype":"protein_coding","hgnc_id":"HGNC:3700","gene_name":"fumarate hydratase","omim_gene":["136850"],"alias_name":null,"gene_symbol":"FH","hgnc_symbol":"FH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:241660903-241683061","ensembl_id":"ENSG00000091483"}},"GRch38":{"90":{"location":"1:241497603-241519761","ensembl_id":"ENSG00000091483"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. 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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":"1.756","version_created":"2026-04-24T13:54:47.562690+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":["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":["9843046","22243968","7296942","8261650"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Myhre syndrome MIM#139210"],"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. 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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":"1.756","version_created":"2026-04-24T13:54:47.562690+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":["CGI-63","NRBF1","FASN2B","ETR1"],"biotype":"protein_coding","hgnc_id":"HGNC:19691","gene_name":"mitochondrial trans-2-enoyl-CoA reductase","omim_gene":["608205"],"alias_name":["nuclear receptor binding factor 1","mitochondrial 2-enoyl thioester reductase"],"gene_symbol":"MECR","hgnc_symbol":"MECR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:29519385-29557454","ensembl_id":"ENSG00000116353"}},"GRch38":{"90":{"location":"1:29192873-29230942","ensembl_id":"ENSG00000116353"}}},"hgnc_date_symbol_changed":"2005-05-24"},"entity_type":"gene","entity_name":"MECR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27817865","33401012","31137067","31070877"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282","MONDO:0015003"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COX3","COIII","CO3"],"biotype":"protein_coding","hgnc_id":"HGNC:7422","gene_name":"mitochondrially encoded cytochrome c oxidase III","omim_gene":["516050"],"alias_name":null,"gene_symbol":"MT-CO3","hgnc_symbol":"MT-CO3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:9207-9990","ensembl_id":"ENSG00000198938"}},"GRch38":{"90":{"location":"MT:9207-9990","ensembl_id":"ENSG00000198938"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-CO3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20525945","11063732","33863631","34054915","8630495","9634511","12414820","21163656","16288875","8630495","9634511"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Mitochondrial disease MONDO:0044970, MT-CO3-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24212882","21749365","10507728","15543146","19650412","37854477"],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HGF","GF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11187","gene_name":"SOS Ras/Rac guanine nucleotide exchange factor 1","omim_gene":["182530"],"alias_name":null,"gene_symbol":"SOS1","hgnc_symbol":"SOS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:39208537-39351486","ensembl_id":"ENSG00000115904"}},"GRch38":{"90":{"location":"2:38981396-39124345","ensembl_id":"ENSG00000115904"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"SOS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments","publications":["19438935","17143285","17143282","17586837"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Noonan syndrome 4 610733"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10504","LST005","MST","misato"],"biotype":"protein_coding","hgnc_id":"HGNC:29678","gene_name":"misato 1, mitochondrial distribution and morphology regulator","omim_gene":["617619"],"alias_name":null,"gene_symbol":"MSTO1","hgnc_symbol":"MSTO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155579979-155718153","ensembl_id":"ENSG00000125459"}},"GRch38":{"90":{"location":"1:155610205-155614967","ensembl_id":"ENSG00000125459"}}},"hgnc_date_symbol_changed":"2005-07-19"},"entity_type":"gene","entity_name":"MSTO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29339779","28544275"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Myopathy, mitochondrial, and ataxia MIM#617675"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Alpha-methylacetoacetic aciduria, 203750 (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":["FLJ10979","HCCS1"],"biotype":"protein_coding","hgnc_id":"HGNC:25608","gene_name":"VPS53, GARP complex subunit","omim_gene":["615850"],"alias_name":null,"gene_symbol":"VPS53","hgnc_symbol":"VPS53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:411908-624957","ensembl_id":"ENSG00000141252"}},"GRch38":{"90":{"location":"17:508668-721717","ensembl_id":"ENSG00000141252"}}},"hgnc_date_symbol_changed":"2005-11-29"},"entity_type":"gene","entity_name":"VPS53","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pontocerebellar hypoplasia, type 2E, 615851 (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":["KIAA0230","PRG2","MG50","D2S448","D2S448E","PXN"],"biotype":"protein_coding","hgnc_id":"HGNC:14966","gene_name":"peroxidasin","omim_gene":["605158"],"alias_name":null,"gene_symbol":"PXDN","hgnc_symbol":"PXDN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:1635659-1748624","ensembl_id":"ENSG00000130508"}},"GRch38":{"90":{"location":"2:1631887-1744852","ensembl_id":"ENSG00000130508"}}},"hgnc_date_symbol_changed":"2005-07-19"},"entity_type":"gene","entity_name":"PXDN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Corneal opacification and other ocular anomalies, 269400 (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":["Kv8.2"],"biotype":"protein_coding","hgnc_id":"HGNC:19698","gene_name":"potassium voltage-gated channel modifier subfamily V member 2","omim_gene":["607604"],"alias_name":null,"gene_symbol":"KCNV2","hgnc_symbol":"KCNV2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:2717502-2730037","ensembl_id":"ENSG00000168263"}},"GRch38":{"90":{"location":"9:2717502-2730037","ensembl_id":"ENSG00000168263"}}},"hgnc_date_symbol_changed":"2002-11-20"},"entity_type":"gene","entity_name":"KCNV2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Retinal cone dystrophy 3B, 610356 (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":["FLJ20371","MFSD7C"],"biotype":"protein_coding","hgnc_id":"HGNC:20105","gene_name":"feline leukemia virus subgroup C cellular receptor family member 2","omim_gene":["610865"],"alias_name":null,"gene_symbol":"FLVCR2","hgnc_symbol":"FLVCR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:76044960-76129557","ensembl_id":"ENSG00000119686"}},"GRch38":{"90":{"location":"14:75578617-75663214","ensembl_id":"ENSG00000119686"}}},"hgnc_date_symbol_changed":"2007-05-01"},"entity_type":"gene","entity_name":"FLVCR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20206334"],"evidence":["Expert Review Green","Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3144,"hash_id":null,"name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.","status":"public","version":"1.12","version_created":"2026-01-22T10:52:30.127872+11:00","relevant_disorders":["Abnormal cerebral vascular morphology HP:0100659"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LHR","LCGR","LGR2","ULG5"],"biotype":"protein_coding","hgnc_id":"HGNC:6585","gene_name":"luteinizing hormone/choriogonadotropin receptor","omim_gene":["152790"],"alias_name":null,"gene_symbol":"LHCGR","hgnc_symbol":"LHCGR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:48859428-48982880","ensembl_id":"ENSG00000138039"}},"GRch38":{"90":{"location":"2:48686775-48755730","ensembl_id":"ENSG00000138039"}}},"hgnc_date_symbol_changed":"1990-03-05"},"entity_type":"gene","entity_name":"LHCGR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11041448"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Luteinizing hormone resistance, female, (MIM#238320)","Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320)","Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["DRP1","DVLP","HDYNIV","DYMPLE","VPS1"],"biotype":"protein_coding","hgnc_id":"HGNC:2973","gene_name":"dynamin 1 like","omim_gene":["603850"],"alias_name":null,"gene_symbol":"DNM1L","hgnc_symbol":"DNM1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:32832134-32898486","ensembl_id":"ENSG00000087470"}},"GRch38":{"90":{"location":"12:32679200-32745650","ensembl_id":"ENSG00000087470"}}},"hgnc_date_symbol_changed":"2000-04-12"},"entity_type":"gene","entity_name":"DNM1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:23663","gene_name":"vitamin K epoxide reductase complex subunit 1","omim_gene":["608547"],"alias_name":null,"gene_symbol":"VKORC1","hgnc_symbol":"VKORC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31102163-31107301","ensembl_id":"ENSG00000167397"}},"GRch38":{"90":{"location":"16:31090842-31095980","ensembl_id":"ENSG00000167397"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"VKORC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21900891","28198005"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Warfarin resistance, MIM#\t122700"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3271,"hash_id":null,"name":"Pharmacogenomics_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is under development, to be used by the Australian Genomics Acute Care Flagship.","status":"public","version":"0.50","version_created":"2020-08-27T20:53:11.205850+10:00","relevant_disorders":[],"stats":{"number_of_genes":17,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TBDN100","NATH","FLJ13340"],"biotype":"protein_coding","hgnc_id":"HGNC:30782","gene_name":"N(alpha)-acetyltransferase 15, NatA auxiliary subunit","omim_gene":["608000"],"alias_name":null,"gene_symbol":"NAA15","hgnc_symbol":"NAA15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:140222609-140341187","ensembl_id":"ENSG00000164134"}},"GRch38":{"90":{"location":"4:139301455-139420033","ensembl_id":"ENSG00000164134"}}},"hgnc_date_symbol_changed":"2010-01-14"},"entity_type":"gene","entity_name":"NAA15","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital heart disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11943","gene_name":"troponin C1, slow skeletal and cardiac type","omim_gene":["191040"],"alias_name":null,"gene_symbol":"TNNC1","hgnc_symbol":"TNNC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:52485118-52488086","ensembl_id":"ENSG00000114854"}},"GRch38":{"90":{"location":"3:52451102-52454070","ensembl_id":"ENSG00000114854"}}},"hgnc_date_symbol_changed":"1989-12-11"},"entity_type":"gene","entity_name":"TNNC1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Cardiomyopathy, dilated"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OCTN2","SCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10969","gene_name":"solute carrier family 22 member 5","omim_gene":["603377"],"alias_name":null,"gene_symbol":"SLC22A5","hgnc_symbol":"SLC22A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:131705444-131731306","ensembl_id":"ENSG00000197375"}},"GRch38":{"90":{"location":"5:132369752-132395614","ensembl_id":"ENSG00000197375"}}},"hgnc_date_symbol_changed":"1998-07-16"},"entity_type":"gene","entity_name":"SLC22A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Carnitine deficiency, systemic primary"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2860","gene_name":"7-dehydrocholesterol reductase","omim_gene":["602858"],"alias_name":null,"gene_symbol":"DHCR7","hgnc_symbol":"DHCR7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71139239-71163914","ensembl_id":"ENSG00000172893"}},"GRch38":{"90":{"location":"11:71428193-71452868","ensembl_id":"ENSG00000172893"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DHCR7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["SMITH-LEMLI-OPITZ SYNDROME","SLOS"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["beta-4","CFEOM3","CFEOM3A"],"biotype":"protein_coding","hgnc_id":"HGNC:20772","gene_name":"tubulin beta 3 class III","omim_gene":["602661"],"alias_name":["class III beta-tubulin"],"gene_symbol":"TUBB3","hgnc_symbol":"TUBB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89987800-90005169","ensembl_id":"ENSG00000258947"}},"GRch38":{"90":{"location":"16:89921392-89938761","ensembl_id":"ENSG00000258947"}}},"hgnc_date_symbol_changed":"2004-11-22"},"entity_type":"gene","entity_name":"TUBB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27428177","20074521","26639658"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Fibrosis of extraocular muscles, congenital, 3A 600638","CFEOM3A"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7525","gene_name":"muscle associated receptor tyrosine kinase","omim_gene":["601296"],"alias_name":null,"gene_symbol":"MUSK","hgnc_symbol":"MUSK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:113431051-113563859","ensembl_id":"ENSG00000030304"}},"GRch38":{"90":{"location":"9:110668771-110801620","ensembl_id":"ENSG00000030304"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"MUSK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM#\t616325"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["VDUP1","EST01027","HHCPA78","THIF","ARRDC6"],"biotype":null,"hgnc_id":"HGNC:16952","gene_name":"thioredoxin interacting protein","omim_gene":["606599"],"alias_name":["upregulated by 1,25-dihydroxyvitamin D-3","thioredoxin binding protein 2"],"gene_symbol":"TXNIP","hgnc_symbol":"TXNIP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145438469-145442635","ensembl_id":"ENSG00000117289"}},"GRch38":{"90":{"location":"1:145992435-145996600","ensembl_id":"ENSG00000265972"}}},"hgnc_date_symbol_changed":"2001-12-12"},"entity_type":"gene","entity_name":"TXNIP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41116060","30755400"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Metabolic disease MONDO:0005066, TXNIP-related"],"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":["MGC12372"],"biotype":"protein_coding","hgnc_id":"HGNC:4026","gene_name":"FXYD domain containing ion transport regulator 2","omim_gene":["601814"],"alias_name":null,"gene_symbol":"FXYD2","hgnc_symbol":"FXYD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:117671559-117699413","ensembl_id":"ENSG00000137731"}},"GRch38":{"90":{"location":"11:117800844-117828698","ensembl_id":"ENSG00000137731"}}},"hgnc_date_symbol_changed":"1997-06-12"},"entity_type":"gene","entity_name":"FXYD2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["17980699, 12763862, 18448590, 11062458, 25765846, 27014088"],"evidence":["Expert Review Amber"],"phenotypes":["Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3469,"hash_id":null,"name":"Metal Metabolism Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism.  \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.","status":"public","version":"0.54","version_created":"2026-02-17T14:35:14.331246+11:00","relevant_disorders":["Abnormality of iron homeostasis","HP:0011031;Abnormal blood transition element cation concentration","HP:0011030"],"stats":{"number_of_genes":51,"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":["KIAA1784","KIAA1987","FANCP"],"biotype":"protein_coding","hgnc_id":"HGNC:23845","gene_name":"SLX4 structure-specific endonuclease subunit","omim_gene":["613278"],"alias_name":["Fanconi anemia, complementation group P"],"gene_symbol":"SLX4","hgnc_symbol":"SLX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3631182-3661599","ensembl_id":"ENSG00000188827"}},"GRch38":{"90":{"location":"16:3581181-3611598","ensembl_id":"ENSG00000188827"}}},"hgnc_date_symbol_changed":"2010-09-13"},"entity_type":"gene","entity_name":"SLX4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21240275","21240277"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anemia, complementation group P, MIM# 613951"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":"1.103","version_created":"2026-04-22T15:49:55.410983+10:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":5},"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":["PHGPx","MCSP"],"biotype":"protein_coding","hgnc_id":"HGNC:4556","gene_name":"glutathione peroxidase 4","omim_gene":["138322"],"alias_name":["phospholipid hydroperoxidase"],"gene_symbol":"GPX4","hgnc_symbol":"GPX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1103936-1106787","ensembl_id":"ENSG00000167468"}},"GRch38":{"90":{"location":"19:1103926-1106791","ensembl_id":"ENSG00000167468"}}},"hgnc_date_symbol_changed":"1993-05-03"},"entity_type":"gene","entity_name":"GPX4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24706940","32827718"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ISSX","CT121","EIEE1"],"biotype":"protein_coding","hgnc_id":"HGNC:18060","gene_name":"aristaless related homeobox","omim_gene":["300382"],"alias_name":["cancer/testis antigen 121"],"gene_symbol":"ARX","hgnc_symbol":"ARX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:25021811-25034065","ensembl_id":"ENSG00000004848"}},"GRch38":{"90":{"location":"X:25003694-25016420","ensembl_id":"ENSG00000004848"}}},"hgnc_date_symbol_changed":"2002-02-11"},"entity_type":"gene","entity_name":"ARX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14722918","12379852","14722918"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Hydranencephaly with abnormal genitalia, MIM# 300215","Lissencephaly, X-linked 2, MIM# 300215"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P450c21B","CA21H","CPS1","CAH1"],"biotype":"protein_coding","hgnc_id":"HGNC:2600","gene_name":"cytochrome P450 family 21 subfamily A member 2","omim_gene":["613815"],"alias_name":["Steroid 21-monooxygenase"],"gene_symbol":"CYP21A2","hgnc_symbol":"CYP21A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:32006042-32009447","ensembl_id":"ENSG00000231852"}},"GRch38":{"90":{"location":"6:32038265-32041670","ensembl_id":"ENSG00000231852"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYP21A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM# 201910"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8858","gene_name":"peroxisomal biogenesis factor 3","omim_gene":["603164"],"alias_name":null,"gene_symbol":"PEX3","hgnc_symbol":"PEX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:143771944-143811147","ensembl_id":"ENSG00000034693"}},"GRch38":{"90":{"location":"6:143450807-143490010","ensembl_id":"ENSG00000034693"}}},"hgnc_date_symbol_changed":"1998-10-21"},"entity_type":"gene","entity_name":"PEX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21031596"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bA351K16.3","FLJ20627","RMD1"],"biotype":"protein_coding","hgnc_id":"HGNC:21176","gene_name":"required for meiotic nuclear division 1 homolog","omim_gene":["614917"],"alias_name":null,"gene_symbol":"RMND1","hgnc_symbol":"RMND1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:151725989-151773259","ensembl_id":"ENSG00000155906"}},"GRch38":{"90":{"location":"6:151404763-151452181","ensembl_id":"ENSG00000155906"}}},"hgnc_date_symbol_changed":"2006-11-24"},"entity_type":"gene","entity_name":"RMND1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23022099","25604853","27843092"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Combined oxidative phosphorylation deficiency 11, MIM# MIM#614922"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EMT","PSCTK2","LYK"],"biotype":"protein_coding","hgnc_id":"HGNC:6171","gene_name":"IL2 inducible T-cell kinase","omim_gene":["186973"],"alias_name":null,"gene_symbol":"ITK","hgnc_symbol":"ITK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:156569944-156682201","ensembl_id":"ENSG00000113263"}},"GRch38":{"90":{"location":"5:157142933-157255191","ensembl_id":"ENSG00000113263"}}},"hgnc_date_symbol_changed":"1995-12-18"},"entity_type":"gene","entity_name":"ITK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19425169","22289921","25061172","26056787","9311799","10213685"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Lymphoproliferative syndrome 1 MIM# 613011"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1955","gene_name":"cholinergic receptor nicotinic alpha 1 subunit","omim_gene":["100690"],"alias_name":["acetylcholine receptor, nicotinic, alpha 1 (muscle)"],"gene_symbol":"CHRNA1","hgnc_symbol":"CHRNA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:175612320-175629200","ensembl_id":"ENSG00000138435"}},"GRch38":{"90":{"location":"2:174747592-174787935","ensembl_id":"ENSG00000138435"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"CHRNA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18806275","10195214","12588888","18252226","36092864"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Multiple pterygium syndrome, lethal type, MIM#253290","Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930","Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TAD3"],"biotype":"protein_coding","hgnc_id":"HGNC:25151","gene_name":"adenosine deaminase, tRNA specific 3","omim_gene":["615302"],"alias_name":["tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"],"gene_symbol":"ADAT3","hgnc_symbol":"ADAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1905377-1913444","ensembl_id":"ENSG00000213638"}},"GRch38":{"90":{"location":"19:1905378-1913447","ensembl_id":"ENSG00000213638"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"ADAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23620220","26842963","29796286","30296593","35118659"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#615286"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24204302","25053765","33448213","33067246","26535115","26526202","26297882"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microcephaly, short stature, and impaired glucose metabolism, 616033 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FREAC6"],"biotype":"protein_coding","hgnc_id":"HGNC:3815","gene_name":"forkhead box I1","omim_gene":["601093"],"alias_name":null,"gene_symbol":"FOXI1","hgnc_symbol":"FOXI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:169532901-169536727","ensembl_id":"ENSG00000168269"}},"GRch38":{"90":{"location":"5:170105897-170109725","ensembl_id":"ENSG00000168269"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12642503","29242249","9843211"],"evidence":["Expert Review Green","Literature","Expert Review Green","Literature"],"phenotypes":["autosomal recessive distal renal tubular acidosis MONDO:0018440"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SUTAL","BLOC2S1"],"biotype":"protein_coding","hgnc_id":"HGNC:15597","gene_name":"HPS3, biogenesis of lysosomal organelles complex 2 subunit 1","omim_gene":["606118"],"alias_name":null,"gene_symbol":"HPS3","hgnc_symbol":"HPS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:148847371-148891519","ensembl_id":"ENSG00000163755"}},"GRch38":{"90":{"location":"3:149129584-149173732","ensembl_id":"ENSG00000163755"}}},"hgnc_date_symbol_changed":"2001-06-13"},"entity_type":"gene","entity_name":"HPS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30990103","11455388","31621111","31880485"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hermansky-Pudlak syndrome 3, MIM# 614072","MONDO:0013555"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9924029"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM#603041"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYPOR","FLJ26468"],"biotype":"protein_coding","hgnc_id":"HGNC:9208","gene_name":"cytochrome p450 oxidoreductase","omim_gene":["124015"],"alias_name":null,"gene_symbol":"POR","hgnc_symbol":"POR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75528518-75616173","ensembl_id":"ENSG00000127948"}},"GRch38":{"90":{"location":"7:75899200-75986855","ensembl_id":"ENSG00000127948"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"POR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","20301592","35842891"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10586","gene_name":"sodium voltage-gated channel beta subunit 1","omim_gene":["600235"],"alias_name":null,"gene_symbol":"SCN1B","hgnc_symbol":"SCN1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:35521588-35531352","ensembl_id":"ENSG00000105711"}},"GRch38":{"90":{"location":"19:35030466-35040449","ensembl_id":"ENSG00000105711"}}},"hgnc_date_symbol_changed":"1990-05-14"},"entity_type":"gene","entity_name":"SCN1B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["19808477","18464934","28878239","29758173"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["Heart conduction disease MONDO:0000992"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4422,"hash_id":null,"name":"Cardiac conduction disease","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with cardiac conduction disease, including heart block and abnormal atrioventricular conduction. It contains all the genes associated with Sick sinus syndrome.\r\n\r\nThis panel is based on the PanelApp UK \"Progressive cardiac conduction disease\" panel, with thanks to Genomics England. It is a constituent of the Arrhythmia Superpanel and Adult Cardiac Superpanel.","status":"public","version":"1.6","version_created":"2026-02-19T13:33:52.737749+11:00","relevant_disorders":["Cardiac conduction abnormality","HP:0031546"],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC35154"],"biotype":"protein_coding","hgnc_id":"HGNC:28563","gene_name":"testis expressed 44","omim_gene":null,"alias_name":null,"gene_symbol":"TEX44","hgnc_symbol":"TEX44","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232457575-232458994","ensembl_id":"ENSG00000177673"}},"GRch38":{"90":{"location":"2:231592901-231594283","ensembl_id":"ENSG00000177673"}}},"hgnc_date_symbol_changed":"2016-11-03"},"entity_type":"gene","entity_name":"TEX44","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40849303"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure, MONDO:0004983, TEX44-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.148","version_created":"2026-04-21T17:36:51.081048+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":[]}]}