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If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BAF190","hSNF2a","hBRM","Sth1p","SNF2LA","BRM","SNF2","SWI2"],"biotype":"protein_coding","hgnc_id":"HGNC:11098","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2","omim_gene":["600014"],"alias_name":["brahma homolog"],"gene_symbol":"SMARCA2","hgnc_symbol":"SMARCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:2015342-2193624","ensembl_id":"ENSG00000080503"}},"GRch38":{"90":{"location":"9:1980290-2193624","ensembl_id":"ENSG00000080503"}}},"hgnc_date_symbol_changed":"1994-07-22"},"entity_type":"gene","entity_name":"SMARCA2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Blepharophimosis-impaired intellectual development syndrome, MIM#619293","Nicolaides-Baraitser syndrome, MIM#601358"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp761P1121"],"biotype":"protein_coding","hgnc_id":"HGNC:25439","gene_name":"transport and golgi organization 2 homolog","omim_gene":["616830"],"alias_name":null,"gene_symbol":"TANGO2","hgnc_symbol":"TANGO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:20004537-20053449","ensembl_id":"ENSG00000183597"}},"GRch38":{"90":{"location":"22:20017014-20065926","ensembl_id":"ENSG00000183597"}}},"hgnc_date_symbol_changed":"2012-12-13"},"entity_type":"gene","entity_name":"TANGO2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536","34364746"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne 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Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SYM1"],"biotype":"protein_coding","hgnc_id":"HGNC:7224","gene_name":"MPV17, mitochondrial inner membrane protein","omim_gene":["137960"],"alias_name":["glomerulosclerosis"],"gene_symbol":"MPV17","hgnc_symbol":"MPV17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27532360-27548547","ensembl_id":"ENSG00000115204"}},"GRch38":{"90":{"location":"2:27309492-27325680","ensembl_id":"ENSG00000115204"}}},"hgnc_date_symbol_changed":"1994-03-21"},"entity_type":"gene","entity_name":"MPV17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810"],"mode_of_inheritance":"BIALLELIC, autosomal or 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liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4922","gene_name":"hexokinase 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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 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apoptosis","omim_gene":["300079"],"alias_name":null,"gene_symbol":"XIAP","hgnc_symbol":"XIAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:122993574-123047829","ensembl_id":"ENSG00000101966"}},"GRch38":{"90":{"location":"X:123859724-123913979","ensembl_id":"ENSG00000101966"}}},"hgnc_date_symbol_changed":"2008-03-04"},"entity_type":"gene","entity_name":"XIAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25666262","17080092","21173700","25943627","22228567","26182687","31232887"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["X-linked lymphoproliferative syndrome 2","inflammatory bowel disease","colitis"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"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":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 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imprinted","tags":["cardiac"],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics 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rapamycin"],"gene_symbol":"MTOR","hgnc_symbol":"MTOR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11166592-11322564","ensembl_id":"ENSG00000198793"}},"GRch38":{"90":{"location":"1:11106535-11262507","ensembl_id":"ENSG00000198793"}}},"hgnc_date_symbol_changed":"2009-05-29"},"entity_type":"gene","entity_name":"MTOR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","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":["VIPAR","VPS16B","SPE-39","SPE39","hSPE-39"],"biotype":"protein_coding","hgnc_id":"HGNC:20347","gene_name":"VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog","omim_gene":["613401"],"alias_name":["VPS33B interacting protein, apical-basolateral polarity regulator"],"gene_symbol":"VIPAS39","hgnc_symbol":"VIPAS39","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:77893018-77924295","ensembl_id":"ENSG00000151445"}},"GRch38":{"90":{"location":"14:77426675-77457952","ensembl_id":"ENSG00000151445"}}},"hgnc_date_symbol_changed":"2012-07-24"},"entity_type":"gene","entity_name":"VIPAS39","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20190753","35151346"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404"],"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 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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. 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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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["H3.3A"],"biotype":"protein_coding","hgnc_id":"HGNC:4764","gene_name":"H3 histone family member 3A","omim_gene":["601128"],"alias_name":null,"gene_symbol":"H3F3A","hgnc_symbol":"H3F3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:226249552-226259702","ensembl_id":"ENSG00000163041"}},"GRch38":{"90":{"location":"1:226061851-226072001","ensembl_id":"ENSG00000163041"}}},"hgnc_date_symbol_changed":"1989-12-11"},"entity_type":"gene","entity_name":"H3F3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33057194","31942419","33268356"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CNF","NPHN"],"biotype":"protein_coding","hgnc_id":"HGNC:7908","gene_name":"NPHS1, nephrin","omim_gene":["602716"],"alias_name":null,"gene_symbol":"NPHS1","hgnc_symbol":"NPHS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36316866-36360189","ensembl_id":"ENSG00000161270"}},"GRch38":{"90":{"location":"19:35825964-35869287","ensembl_id":"ENSG00000161270"}}},"hgnc_date_symbol_changed":"1994-12-14"},"entity_type":"gene","entity_name":"NPHS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nephrotic syndrome, type 1, MIM# 256300"],"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. 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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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PIP5Kgamma","KIAA0589","LCCS3"],"biotype":"protein_coding","hgnc_id":"HGNC:8996","gene_name":"phosphatidylinositol-4-phosphate 5-kinase type 1 gamma","omim_gene":["606102"],"alias_name":null,"gene_symbol":"PIP5K1C","hgnc_symbol":"PIP5K1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3630181-3700477","ensembl_id":"ENSG00000186111"}},"GRch38":{"90":{"location":"19:3630183-3700479","ensembl_id":"ENSG00000186111"}}},"hgnc_date_symbol_changed":"1999-12-14"},"entity_type":"gene","entity_name":"PIP5K1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17701898","37451268"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related","Lethal congenital contractural syndrome 3, MIM# 611369"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Alix","AIP1","Hp95"],"biotype":"protein_coding","hgnc_id":"HGNC:8766","gene_name":"programmed cell death 6 interacting protein","omim_gene":["608074"],"alias_name":["ALG-2 interacting protein X"],"gene_symbol":"PDCD6IP","hgnc_symbol":"PDCD6IP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:33839844-33911194","ensembl_id":"ENSG00000170248"}},"GRch38":{"90":{"location":"3:33798352-33869707","ensembl_id":"ENSG00000170248"}}},"hgnc_date_symbol_changed":"1999-12-10"},"entity_type":"gene","entity_name":"PDCD6IP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32286682"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly 29, primary, autosomal recessive, MIM# 620047"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ANM","STNT","TNT","TNTS","FLJ98147","MGC104241","NEM5"],"biotype":"protein_coding","hgnc_id":"HGNC:11948","gene_name":"troponin T1, slow skeletal type","omim_gene":["191041"],"alias_name":["slow skeletal muscle troponin T","troponin T1, skeletal, slow","nemaline myopathy type 5"],"gene_symbol":"TNNT1","hgnc_symbol":"TNNT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:55644162-55660722","ensembl_id":"ENSG00000105048"}},"GRch38":{"90":{"location":"19:55132794-55149354","ensembl_id":"ENSG00000105048"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"TNNT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["10952871","32994279","32819427","31970803","31604653","29931346","29178646"],"evidence":["Expert Review Green","Other","Expert Review Green"],"phenotypes":["Nemaline myopathy 5 MONDO:0011539","Nemaline myopathy MONDO:0018958"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Kv11.1","HERG","erg1"],"biotype":"protein_coding","hgnc_id":"HGNC:6251","gene_name":"potassium voltage-gated channel subfamily H member 2","omim_gene":["152427"],"alias_name":null,"gene_symbol":"KCNH2","hgnc_symbol":"KCNH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:150642049-150675403","ensembl_id":"ENSG00000055118"}},"GRch38":{"90":{"location":"7:150944961-150978315","ensembl_id":"ENSG00000055118"}}},"hgnc_date_symbol_changed":"1993-03-22"},"entity_type":"gene","entity_name":"KCNH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["34557911"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short QT syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":174,"hash_id":null,"name":"Short QT syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.7","version_created":"2023-07-25T17:54:13.214709+10:00","relevant_disorders":["Shortened QT interval","HP:0012232"],"stats":{"number_of_genes":9,"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":["VHL1"],"biotype":"protein_coding","hgnc_id":"HGNC:12687","gene_name":"von Hippel-Lindau tumor suppressor","omim_gene":["608537"],"alias_name":null,"gene_symbol":"VHL","hgnc_symbol":"VHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10182692-10193904","ensembl_id":"ENSG00000134086"}},"GRch38":{"90":{"location":"3:10141008-10152220","ensembl_id":"ENSG00000134086"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"VHL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["von Hippel-Lindau syndrome, MIM#\t193300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":194,"hash_id":null,"name":"Renal Macrocystic Disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel is developed was developed 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 macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.","status":"public","version":"1.0","version_created":"2026-03-24T16:17:17.075108+11:00","relevant_disorders":["Renal cyst","HP:0000107"],"stats":{"number_of_genes":31,"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Kv1.6 HBK2 PPP1R96"],"biotype":"gene with protein product","hgnc_id":"HGNC:6225","gene_name":"potassium channel, voltage gated shaker related subfamily A, member 6","omim_gene":["176257"],"alias_name":["protein phosphatase 1","regulatory subunit 96"],"gene_symbol":"KCNA6","hgnc_symbol":"KCNA6","hgnc_release":"2000-01-01","ensembl_genes":{"GRch37":{"82":{"location":"12:4918500-4922484","ensembl_id":"ENSG00000151079"}},"GRch38":{"90":{"location":"12:4809334-4813318","ensembl_id":"ENSG00000151079"}}},"hgnc_date_symbol_changed":"2000-01-01"},"entity_type":"gene","entity_name":"KCNA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36318112","40472070"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy, MONDO:0100620, KCNA6-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ11005","PNG1"],"biotype":"protein_coding","hgnc_id":"HGNC:17646","gene_name":"N-glycanase 1","omim_gene":["610661"],"alias_name":["peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase"],"gene_symbol":"NGLY1","hgnc_symbol":"NGLY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:25760435-25831530","ensembl_id":"ENSG00000151092"}},"GRch38":{"90":{"location":"3:25718944-25790039","ensembl_id":"ENSG00000151092"}}},"hgnc_date_symbol_changed":"2002-06-07"},"entity_type":"gene","entity_name":"NGLY1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32259258","24651605","27388694"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of deglycosylation, MIM# 615273"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DRN3"],"biotype":"protein_coding","hgnc_id":"HGNC:12269","gene_name":"three prime repair exonuclease 1","omim_gene":["606609"],"alias_name":null,"gene_symbol":"TREX1","hgnc_symbol":"TREX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48506445-48509044","ensembl_id":"ENSG00000213689"}},"GRch38":{"90":{"location":"3:48465811-48467645","ensembl_id":"ENSG00000213689"}}},"hgnc_date_symbol_changed":"2000-05-17"},"entity_type":"gene","entity_name":"TREX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21937424"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Aicardi-Goutieres syndrome 1, dominant and recessive","Chilblain lupus","{Systemic lupus erythematosus, susceptibility to}","Vasculopathy, retinal, with cerebral leukodystrophy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8849","gene_name":"glutamyl-tRNA amidotransferase subunit B","omim_gene":["603645"],"alias_name":null,"gene_symbol":"GATB","hgnc_symbol":"GATB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:152591656-152682175","ensembl_id":"ENSG00000059691"}},"GRch38":{"90":{"location":"4:151670504-151761023","ensembl_id":"ENSG00000059691"}}},"hgnc_date_symbol_changed":"2014-08-04"},"entity_type":"gene","entity_name":"GATB","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30283131","38703036"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["inborn mitochondrial metabolism disorder MONDO:0004069"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["COX11P"],"biotype":"protein_coding","hgnc_id":"HGNC:2261","gene_name":"COX11, cytochrome c oxidase copper chaperone","omim_gene":["603648"],"alias_name":["cytochrome c oxidase subunit 11","cytochrome c oxidase assembly protein COX11"],"gene_symbol":"COX11","hgnc_symbol":"COX11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:53029263-53046146","ensembl_id":"ENSG00000166260"}},"GRch38":{"90":{"location":"17:54951902-54968785","ensembl_id":"ENSG00000166260"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"COX11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36030551"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial disease (MONDO:0044970), COX11-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BPTP3","SH-PTP2","SHP-2","PTP2C","SHP2"],"biotype":"protein_coding","hgnc_id":"HGNC:9644","gene_name":"protein tyrosine phosphatase, non-receptor type 11","omim_gene":["176876"],"alias_name":null,"gene_symbol":"PTPN11","hgnc_symbol":"PTPN11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112856155-112947717","ensembl_id":"ENSG00000179295"}},"GRch38":{"90":{"location":"12:112418351-112509913","ensembl_id":"ENSG00000179295"}}},"hgnc_date_symbol_changed":"1993-03-03"},"entity_type":"gene","entity_name":"PTPN11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0990","CSS1"],"biotype":"protein_coding","hgnc_id":"HGNC:17198","gene_name":"chondroitin sulfate synthase 1","omim_gene":["608183"],"alias_name":null,"gene_symbol":"CHSY1","hgnc_symbol":"CHSY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:101715928-101792137","ensembl_id":"ENSG00000131873"}},"GRch38":{"90":{"location":"15:101175723-101251932","ensembl_id":"ENSG00000131873"}}},"hgnc_date_symbol_changed":"2008-01-24"},"entity_type":"gene","entity_name":"CHSY1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21129728","21129727","24269551"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533","CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BZP","ZEB","AREB6","NIL-2-A","Zfhep","Zfhx1a","FECD6"],"biotype":"protein_coding","hgnc_id":"HGNC:11642","gene_name":"zinc finger E-box binding homeobox 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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:12372","gene_name":"thyroid stimulating hormone beta","omim_gene":["188540"],"alias_name":null,"gene_symbol":"TSHB","hgnc_symbol":"TSHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115572415-115576941","ensembl_id":"ENSG00000134200"}},"GRch38":{"90":{"location":"1:115029824-115034309","ensembl_id":"ENSG00000134200"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TSHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hypothryoidism, congenital, nongoitrous 4"],"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":["TRS20","SEDT","MIP-2A","ZNF547L","hYP38334"],"biotype":"protein_coding","hgnc_id":"HGNC:23068","gene_name":"trafficking protein particle complex 2","omim_gene":["300202"],"alias_name":null,"gene_symbol":"TRAPPC2","hgnc_symbol":"TRAPPC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:13730363-13752754","ensembl_id":"ENSG00000196459"}},"GRch38":{"90":{"location":"X:13712244-13734635","ensembl_id":"ENSG00000196459"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"gene","entity_name":"TRAPPC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Spondyloepiphyseal dysplasia tarda"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["IKK-gamma","NEMO","Fip3p","FIP-3","FIP3","ZC2HC9"],"biotype":null,"hgnc_id":"HGNC:5961","gene_name":"inhibitor of nuclear factor kappa B kinase subunit gamma","omim_gene":["300248"],"alias_name":null,"gene_symbol":"IKBKG","hgnc_symbol":"IKBKG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153769414-153796782","ensembl_id":"ENSG00000073009"}},"GRch38":{"90":{"location":"X:154541199-154565046","ensembl_id":"ENSG00000269335"}}},"hgnc_date_symbol_changed":"1998-09-30"},"entity_type":"gene","entity_name":"IKBKG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Incontinentia pigmenti 1"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["KIAA0569","SIP-1","SIP1"],"biotype":"protein_coding","hgnc_id":"HGNC:14881","gene_name":"zinc finger E-box binding homeobox 2","omim_gene":["605802"],"alias_name":["SMAD interacting protein 1"],"gene_symbol":"ZEB2","hgnc_symbol":"ZEB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:145141648-145282147","ensembl_id":"ENSG00000169554"}},"GRch38":{"90":{"location":"2:144364364-144524583","ensembl_id":"ENSG00000169554"}}},"hgnc_date_symbol_changed":"2007-02-15"},"entity_type":"gene","entity_name":"ZEB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29300384","27831545","24715670","19215041","17958891"],"evidence":["Expert Review Green"],"phenotypes":["Mowat-Wilson syndrome, MIM# 235730","MONDO:0009341"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7436","gene_name":"methylenetetrahydrofolate reductase","omim_gene":["607093"],"alias_name":null,"gene_symbol":"MTHFR","hgnc_symbol":"MTHFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11845780-11866977","ensembl_id":"ENSG00000177000"}},"GRch38":{"90":{"location":"1:11785723-11806920","ensembl_id":"ENSG00000177000"}}},"hgnc_date_symbol_changed":"1994-07-15"},"entity_type":"gene","entity_name":"MTHFR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","7920641"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Homocystinuria due to MTHFR deficiency MIM#236250","Disorders of folate metabolism and transport"],"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":["PY160","IRS-4"],"biotype":"protein_coding","hgnc_id":"HGNC:6128","gene_name":"insulin receptor substrate 4","omim_gene":["300904"],"alias_name":null,"gene_symbol":"IRS4","hgnc_symbol":"IRS4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:107975712-107979651","ensembl_id":"ENSG00000133124"}},"GRch38":{"90":{"location":"X:108732482-108736409","ensembl_id":"ENSG00000133124"}}},"hgnc_date_symbol_changed":"1998-11-24"},"entity_type":"gene","entity_name":"IRS4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30061370","10644546"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PYPAF3","NOD12","PAN7","CLR19.4"],"biotype":"protein_coding","hgnc_id":"HGNC:22947","gene_name":"NLR family pyrin domain containing 7","omim_gene":["609661"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"],"gene_symbol":"NLRP7","hgnc_symbol":"NLRP7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:55434877-55477680","ensembl_id":"ENSG00000167634"}},"GRch38":{"90":{"location":"19:54923509-54966312","ensembl_id":"ENSG00000167634"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28561018"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["IUGR"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp762C186","TANGERIN"],"biotype":"protein_coding","hgnc_id":"HGNC:30682","gene_name":"EH domain binding protein 1 like 1","omim_gene":null,"alias_name":null,"gene_symbol":"EHBP1L1","hgnc_symbol":"EHBP1L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65343509-65360121","ensembl_id":"ENSG00000173442"}},"GRch38":{"90":{"location":"11:65576038-65592650","ensembl_id":"ENSG00000173442"}}},"hgnc_date_symbol_changed":"2004-08-26"},"entity_type":"gene","entity_name":"EHBP1L1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26833786","https://dmdd.org.uk/mutants/Ehbp1l1","34645488"],"evidence":["Expert Review Green","Literature","Expert list","Genomics England PanelApp"],"phenotypes":["non-immune hydrops fetalis MONDO:0009369, EHBP1L1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hPAK3","bPAK"],"biotype":"protein_coding","hgnc_id":"HGNC:8592","gene_name":"p21 (RAC1) activated kinase 3","omim_gene":["300142"],"alias_name":null,"gene_symbol":"PAK3","hgnc_symbol":"PAK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:110187513-110470589","ensembl_id":"ENSG00000077264"}},"GRch38":{"90":{"location":"X:110944285-111227361","ensembl_id":"ENSG00000077264"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"PAK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24556213","9731525","10946356","12884430","17853471","18523455","32050918","32005903","31943058","31843706","31678216"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Mental retardation, X-linked 30/47, MIM# 300558","Agenesis of the corpus callosum"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14661080","21108394"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Cockayne syndrome, type A, MIM# 216400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HFK2","QIN","BF1","HFK1","HFK3","HBF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:3811","gene_name":"forkhead box G1","omim_gene":["164874"],"alias_name":null,"gene_symbol":"FOXG1","hgnc_symbol":"FOXG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:29235050-29238870","ensembl_id":"ENSG00000176165"}},"GRch38":{"90":{"location":"14:28760330-28770277","ensembl_id":"ENSG00000176165"}}},"hgnc_date_symbol_changed":"2007-05-16"},"entity_type":"gene","entity_name":"FOXG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21441262","19564653","19578037","27029630","28661489"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Rett Syndrome, congenital variant OMIM:613454","Rett syndrome, congenital variant MONDO:0013270"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HADH1","SCHAD"],"biotype":"protein_coding","hgnc_id":"HGNC:4799","gene_name":"hydroxyacyl-CoA dehydrogenase","omim_gene":["601609"],"alias_name":null,"gene_symbol":"HADH","hgnc_symbol":"HADH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:108910870-108956331","ensembl_id":"ENSG00000138796"}},"GRch38":{"90":{"location":"4:107989714-108035175","ensembl_id":"ENSG00000138796"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HADH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1835339","10347277","10931422"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ADAMTS-3","hPCPNI","PCINP","ADAM-TS2","NPI"],"biotype":"protein_coding","hgnc_id":"HGNC:218","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 2","omim_gene":["604539"],"alias_name":["procollagen I N-proteinase","procollagen N-endopeptidase"],"gene_symbol":"ADAMTS2","hgnc_symbol":"ADAMTS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:178537852-178772431","ensembl_id":"ENSG00000087116"}},"GRch38":{"90":{"location":"5:179110851-179345430","ensembl_id":"ENSG00000087116"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"ADAMTS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30071989","26765342","28306229"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DUP","MRP1"],"biotype":"protein_coding","hgnc_id":"HGNC:7326","gene_name":"mutS homolog 3","omim_gene":["600887"],"alias_name":["Divergent upstream protein","Mismatch repair protein 1"],"gene_symbol":"MSH3","hgnc_symbol":"MSH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:79950467-80172279","ensembl_id":"ENSG00000113318"}},"GRch38":{"90":{"location":"5:80654648-80876460","ensembl_id":"ENSG00000113318"}}},"hgnc_date_symbol_changed":"1995-09-28"},"entity_type":"gene","entity_name":"MSH3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Colorectal cancer, MONDO:0005575","Polyposis, MONDO:0000147","Familial adenomatous polyposis 4, MONDO:0044300","Familial adenomatous polyposis 4, MIM#617100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4371,"hash_id":null,"name":"Colorectal Cancer and Polyposis","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.4","version_created":"2025-11-20T12:31:46.390137+11:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7863","gene_name":"nicotinamide nucleotide transhydrogenase","omim_gene":["607878"],"alias_name":null,"gene_symbol":"NNT","hgnc_symbol":"NNT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:43602794-43707507","ensembl_id":"ENSG00000112992"}},"GRch38":{"90":{"location":"5:43602692-43707405","ensembl_id":"ENSG00000112992"}}},"hgnc_date_symbol_changed":"1999-11-16"},"entity_type":"gene","entity_name":"NNT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22634753","23474776","25879317","26070314","27129361","40709434"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}