{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=315","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=313","results":[{"gene_data":{"alias":["EDM5","HOA"],"biotype":"protein_coding","hgnc_id":"HGNC:6909","gene_name":"matrilin 3","omim_gene":["602109"],"alias_name":null,"gene_symbol":"MATN3","hgnc_symbol":"MATN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:20191872-20212455","ensembl_id":"ENSG00000132031"}},"GRch38":{"90":{"location":"2:19992111-20012694","ensembl_id":"ENSG00000132031"}}},"hgnc_date_symbol_changed":"1998-04-29"},"entity_type":"gene","entity_name":"MATN3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31724101","32025536","11968079","14729835"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. 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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":[]},{"gene_data":{"alias":["MEK1","MAPKK1"],"biotype":"protein_coding","hgnc_id":"HGNC:6840","gene_name":"mitogen-activated protein kinase kinase 1","omim_gene":["176872"],"alias_name":null,"gene_symbol":"MAP2K1","hgnc_symbol":"MAP2K1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:66679155-66784650","ensembl_id":"ENSG00000169032"}},"GRch38":{"90":{"location":"15:66386817-66492312","ensembl_id":"ENSG00000169032"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"MAP2K1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cardiofaciocutaneous syndrome MIM#615279"],"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. 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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":null},{"gene_data":{"alias":["Nav1.1","GEFSP2","HBSCI","NAC1","SMEI"],"biotype":"protein_coding","hgnc_id":"HGNC:10585","gene_name":"sodium voltage-gated channel alpha subunit 1","omim_gene":["182389"],"alias_name":null,"gene_symbol":"SCN1A","hgnc_symbol":"SCN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166845670-166984523","ensembl_id":"ENSG00000144285"}},"GRch38":{"90":{"location":"2:165984641-166149214","ensembl_id":"ENSG00000144285"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SCN1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33528536","PMID: 34364746","PMID: 34114234"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 6B, non-Dravet (OMIM 619317)","Dravet syndrome (OMIM  607208)"],"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":["HK33","D1S2223E","PMP1","PMPI","PXMP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9713","gene_name":"peroxisomal biogenesis factor 19","omim_gene":["600279"],"alias_name":["housekeeping gene, 33kD"],"gene_symbol":"PEX19","hgnc_symbol":"PEX19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160246602-160256138","ensembl_id":"ENSG00000162735"}},"GRch38":{"90":{"location":"1:160276812-160286348","ensembl_id":"ENSG00000162735"}}},"hgnc_date_symbol_changed":"2004-03-19"},"entity_type":"gene","entity_name":"PEX19","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20683989"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Peroxisome biogenesis disorder 8A (Zellweger), MIM# 614876"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"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":["BLU","CILD22"],"biotype":"protein_coding","hgnc_id":"HGNC:19412","gene_name":"zinc finger MYND-type containing 10","omim_gene":["607070"],"alias_name":null,"gene_symbol":"ZMYND10","hgnc_symbol":"ZMYND10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50378541-50384283","ensembl_id":"ENSG00000004838"}},"GRch38":{"90":{"location":"3:50341110-50346852","ensembl_id":"ENSG00000004838"}}},"hgnc_date_symbol_changed":"2003-05-01"},"entity_type":"gene","entity_name":"ZMYND10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23891471","23891469"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 22, MIM#615444"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline 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":null},{"gene_data":{"alias":["SA-2","SCC3B","SA2"],"biotype":"protein_coding","hgnc_id":"HGNC:11355","gene_name":"stromal antigen 2","omim_gene":["300826"],"alias_name":null,"gene_symbol":"STAG2","hgnc_symbol":"STAG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:123094062-123556514","ensembl_id":"ENSG00000101972"}},"GRch38":{"90":{"location":"X:123960212-124422664","ensembl_id":"ENSG00000101972"}}},"hgnc_date_symbol_changed":"1999-04-29"},"entity_type":"gene","entity_name":"STAG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31334757"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Holoprosencephaly 13, X-linked, MIM#\t301043"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":112,"hash_id":null,"name":"Holoprosencephaly and septo-optic dysplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.24","version_created":"2026-03-03T11:24:20.637349+11:00","relevant_disorders":["Holoprosencephaly","HP:0001360; Septo-optic dysplasia","HP:0100842"],"stats":{"number_of_genes":31,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ45472"],"biotype":"protein_coding","hgnc_id":"HGNC:4235","gene_name":"glial fibrillary acidic protein","omim_gene":["137780"],"alias_name":["intermediate filament protein"],"gene_symbol":"GFAP","hgnc_symbol":"GFAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42982376-42994305","ensembl_id":"ENSG00000131095"}},"GRch38":{"90":{"location":"17:44903161-44916937","ensembl_id":"ENSG00000131095"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"GFAP","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":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental 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 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THTR2"],"biotype":"protein_coding","hgnc_id":"HGNC:16266","gene_name":"solute carrier family 19 member 3","omim_gene":["606152"],"alias_name":["thiamine transporter 2"],"gene_symbol":"SLC19A3","hgnc_symbol":"SLC19A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:228549926-228582728","ensembl_id":"ENSG00000135917"}},"GRch38":{"90":{"location":"2:227685210-227718012","ensembl_id":"ENSG00000135917"}}},"hgnc_date_symbol_changed":"2001-07-19"},"entity_type":"gene","entity_name":"SLC19A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15871139","20065143","23482991","24878502","23589815","24166474","26975589","27896110"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+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":["MGC26694"],"biotype":"protein_coding","hgnc_id":"HGNC:28380","gene_name":"solute carrier family 25 member 42","omim_gene":["610823"],"alias_name":null,"gene_symbol":"SLC25A42","hgnc_symbol":"SLC25A42","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:19174808-19223697","ensembl_id":"ENSG00000181035"}},"GRch38":{"90":{"location":"19:19063999-19112888","ensembl_id":"ENSG00000181035"}}},"hgnc_date_symbol_changed":"2006-09-21"},"entity_type":"gene","entity_name":"SLC25A42","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26541337","29327420","29923093","34258143"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+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":["SEC63L","PRO2507","ERdj2","DNAJC23"],"biotype":"protein_coding","hgnc_id":"HGNC:21082","gene_name":"SEC63 homolog, protein translocation regulator","omim_gene":["608648"],"alias_name":null,"gene_symbol":"SEC63","hgnc_symbol":"SEC63","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:108188960-108279393","ensembl_id":"ENSG00000025796"}},"GRch38":{"90":{"location":"6:107867756-107958189","ensembl_id":"ENSG00000025796"}}},"hgnc_date_symbol_changed":"2003-05-15"},"entity_type":"gene","entity_name":"SEC63","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23209713","20095989"],"evidence":["Expert Review Amber","Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Polycystic liver disease 2, MIM# 617004"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+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":["CDGS","CDG1a","PMI","PMI1"],"biotype":"protein_coding","hgnc_id":"HGNC:9115","gene_name":"phosphomannomutase 2","omim_gene":["601785"],"alias_name":["phosphomannose isomerase 1","mannose-6-phosphate isomerase"],"gene_symbol":"PMM2","hgnc_symbol":"PMM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8882680-8943188","ensembl_id":"ENSG00000140650"}},"GRch38":{"90":{"location":"16:8788823-8849331","ensembl_id":"ENSG00000140650"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PMM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28108845","28373276","32595772"],"evidence":["Literature","Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type Ia (MIM#212065)","Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+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":["HSP70-HOM","hum70t"],"biotype":"protein_coding","hgnc_id":"HGNC:5234","gene_name":"heat shock protein family A (Hsp70) member 1 like","omim_gene":["140559"],"alias_name":null,"gene_symbol":"HSPA1L","hgnc_symbol":"HSPA1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31777396-31783437","ensembl_id":"ENSG00000204390"}},"GRch38":{"90":{"location":"6:31809619-31815065","ensembl_id":"ENSG00000204390"}}},"hgnc_date_symbol_changed":"1989-05-12"},"entity_type":"gene","entity_name":"HSPA1L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28126021"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["inflammatory bowel disease, MONDO:0005265"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+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":["HE4","WAP5","dJ461P17.6","EDDM4"],"biotype":"protein_coding","hgnc_id":"HGNC:15939","gene_name":"WAP four-disulfide core domain 2","omim_gene":["617548"],"alias_name":["epididymal protein 4"],"gene_symbol":"WFDC2","hgnc_symbol":"WFDC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44098346-44110172","ensembl_id":"ENSG00000101443"}},"GRch38":{"90":{"location":"20:45469706-45481532","ensembl_id":"ENSG00000101443"}}},"hgnc_date_symbol_changed":"2001-07-31"},"entity_type":"gene","entity_name":"WFDC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38626355"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Bronchiectasis and nasal polyposis, MIM# 620984"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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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":"1.4733","version_created":"2026-04-09T11:50:28.536610+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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3420","gene_name":"epidermal growth factor receptor pathway substrate 8","omim_gene":["600206"],"alias_name":null,"gene_symbol":"EPS8","hgnc_symbol":"EPS8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:15773092-16035263","ensembl_id":"ENSG00000151491"}},"GRch38":{"90":{"location":"12:15620158-15882329","ensembl_id":"ENSG00000151491"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"EPS8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24741995","27344577","30303587","34637946","21526224"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Autosomal recessive nonsyndromic hearing loss 102 MONDO:0014428"],"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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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":"1.4733","version_created":"2026-04-09T11:50:28.536610+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":["VATL","Vma3"],"biotype":"protein_coding","hgnc_id":"HGNC:855","gene_name":"ATPase H+ transporting V0 subunit c","omim_gene":["108745"],"alias_name":null,"gene_symbol":"ATP6V0C","hgnc_symbol":"ATP6V0C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2563871-2570219","ensembl_id":"ENSG00000185883"}},"GRch38":{"90":{"location":"16:2513870-2520218","ensembl_id":"ENSG00000185883"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V0C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33190975","33090716","36074901"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["FLVCR","MFSD7B","PCA"],"biotype":"protein_coding","hgnc_id":"HGNC:24682","gene_name":"feline leukemia virus subgroup C cellular receptor 1","omim_gene":["609144"],"alias_name":null,"gene_symbol":"FLVCR1","hgnc_symbol":"FLVCR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:213031597-213072705","ensembl_id":"ENSG00000162769"}},"GRch38":{"90":{"location":"1:212858255-212899363","ensembl_id":"ENSG00000162769"}}},"hgnc_date_symbol_changed":"2007-05-01"},"entity_type":"gene","entity_name":"FLVCR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39306721"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MIM#621060"],"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":["CGI-18","ASC1p50","Em:AC022392.3"],"biotype":"protein_coding","hgnc_id":"HGNC:24268","gene_name":"activating signal cointegrator 1 complex subunit 1","omim_gene":["614215"],"alias_name":null,"gene_symbol":"ASCC1","hgnc_symbol":"ASCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:73856278-73976892","ensembl_id":"ENSG00000138303"}},"GRch38":{"90":{"location":"10:72096032-72217134","ensembl_id":"ENSG00000138303"}}},"hgnc_date_symbol_changed":"2004-03-17"},"entity_type":"gene","entity_name":"ASCC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["(PMID: 30327447","35838082","26924529)"],"evidence":["Expert Review Green","Other","Expert Review Green","Expert list"],"phenotypes":["Congenital Myopathy - MONDO:0019952"],"mode_of_inheritance":"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":null},{"gene_data":{"alias":["FAAP250"],"biotype":"protein_coding","hgnc_id":"HGNC:23168","gene_name":"Fanconi anemia complementation group M","omim_gene":["609644"],"alias_name":null,"gene_symbol":"FANCM","hgnc_symbol":"FANCM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:45605143-45670093","ensembl_id":"ENSG00000187790"}},"GRch38":{"90":{"location":"14:45135940-45200890","ensembl_id":"ENSG00000187790"}}},"hgnc_date_symbol_changed":"2005-09-01"},"entity_type":"gene","entity_name":"FANCM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28837162"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["refuted"],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["U4c","U4b","U4A"],"biotype":"snRNA","hgnc_id":"HGNC:10193","gene_name":"RNA, U4 small nuclear 2","omim_gene":null,"alias_name":null,"gene_symbol":"RNU4-2","hgnc_symbol":"RNU4-2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:120729566-120729706","ensembl_id":"ENSG00000202538"}},"GRch38":{"90":{"location":"12:120291763-120291903","ensembl_id":"ENSG00000202538"}}},"hgnc_date_symbol_changed":"2008-05-01"},"entity_type":"gene","entity_name":"RNU4-2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38991538","40297424"],"evidence":["Expert Review Green","Expert list","Literature"],"phenotypes":["Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["non-coding gene"],"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":["Eu-HMTase1","FLJ12879","KIAA1876","bA188C12.1","KMT1D","FLJ40292"],"biotype":"protein_coding","hgnc_id":"HGNC:24650","gene_name":"euchromatic histone lysine methyltransferase 1","omim_gene":["607001"],"alias_name":null,"gene_symbol":"EHMT1","hgnc_symbol":"EHMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140513444-140764468","ensembl_id":"ENSG00000181090"}},"GRch38":{"90":{"location":"9:137618963-137870016","ensembl_id":"ENSG00000181090"}}},"hgnc_date_symbol_changed":"2004-06-01"},"entity_type":"gene","entity_name":"EHMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16826528","19264732","19293338","22670143","30448833"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Kleefstra syndrome 1, MIM# 610253","MONDO:0027407"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"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":["KIAA1066","JSAP1","JIP3","syd"],"biotype":"protein_coding","hgnc_id":"HGNC:6884","gene_name":"mitogen-activated protein kinase 8 interacting protein 3","omim_gene":["605431"],"alias_name":["homolog of Drosophila Sunday driver 2"],"gene_symbol":"MAPK8IP3","hgnc_symbol":"MAPK8IP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1756184-1820318","ensembl_id":"ENSG00000138834"}},"GRch38":{"90":{"location":"16:1706183-1770317","ensembl_id":"ENSG00000138834"}}},"hgnc_date_symbol_changed":"2000-08-22"},"entity_type":"gene","entity_name":"MAPK8IP3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30612693"],"evidence":["Expert Review Amber","Literature","Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with or without variable brain abnormalities MIM#618443"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TLDC3"],"biotype":"protein_coding","hgnc_id":"HGNC:15822","gene_name":"oxidation resistance 1","omim_gene":["605609"],"alias_name":["TBC/LysM-associated domain containing 3"],"gene_symbol":"OXR1","hgnc_symbol":"OXR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:107282473-107764922","ensembl_id":"ENSG00000164830"}},"GRch38":{"90":{"location":"8:106359476-106752694","ensembl_id":"ENSG00000164830"}}},"hgnc_date_symbol_changed":"2001-06-14"},"entity_type":"gene","entity_name":"OXR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31785787","22028674"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM#\t213000"],"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":[]},{"gene_data":{"alias":["ISU2","hnifU","IscU"],"biotype":"protein_coding","hgnc_id":"HGNC:29882","gene_name":"iron-sulfur cluster assembly enzyme","omim_gene":["611911"],"alias_name":null,"gene_symbol":"ISCU","hgnc_symbol":"ISCU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:108956358-108963160","ensembl_id":"ENSG00000136003"}},"GRch38":{"90":{"location":"12:108562582-108569384","ensembl_id":"ENSG00000136003"}}},"hgnc_date_symbol_changed":"2006-10-24"},"entity_type":"gene","entity_name":"ISCU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29079705","18304497","18296749","19567699"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Myopathy with lactic acidosis, hereditary, MIM# 255125"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SBA2","MGC10210"],"biotype":"protein_coding","hgnc_id":"HGNC:19222","gene_name":"WD repeat and SOCS box containing 2","omim_gene":null,"alias_name":null,"gene_symbol":"WSB2","hgnc_symbol":"WSB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:118470712-118500235","ensembl_id":"ENSG00000176871"}},"GRch38":{"90":{"location":"12:118032694-118062430","ensembl_id":"ENSG00000176871"}}},"hgnc_date_symbol_changed":"2004-02-20"},"entity_type":"gene","entity_name":"WSB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40374945"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Luo-Agrawal neurodevelopmental syndrome, MIM# 621552"],"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":[]},{"gene_data":{"alias":["71-7A","JBTS10"],"biotype":"protein_coding","hgnc_id":"HGNC:2567","gene_name":"OFD1, centriole and centriolar satellite protein","omim_gene":["300170"],"alias_name":null,"gene_symbol":"OFD1","hgnc_symbol":"OFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:13752832-13787480","ensembl_id":"ENSG00000046651"}},"GRch38":{"90":{"location":"X:13734745-13769353","ensembl_id":"ENSG00000046651"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"OFD1","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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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":["SLA/LP","SLA"],"biotype":"protein_coding","hgnc_id":"HGNC:30605","gene_name":"Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase","omim_gene":["613009"],"alias_name":["soluble liver antigen/liver pancreas antigen"],"gene_symbol":"SEPSECS","hgnc_symbol":"SEPSECS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:25121627-25162204","ensembl_id":"ENSG00000109618"}},"GRch38":{"90":{"location":"4:25120014-25160442","ensembl_id":"ENSG00000109618"}}},"hgnc_date_symbol_changed":"2007-05-01"},"entity_type":"gene","entity_name":"SEPSECS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20920667, 25044680, 31748115, 29464431"],"evidence":["Expert Review Green"],"phenotypes":["pontocerebellar hypoplasia type 2D MONDO:0013438","Other disorders of trace element metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2040","gene_name":"claudin 19","omim_gene":["610036"],"alias_name":null,"gene_symbol":"CLDN19","hgnc_symbol":"CLDN19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43198764-43205925","ensembl_id":"ENSG00000164007"}},"GRch38":{"90":{"location":"1:42733093-42740254","ensembl_id":"ENSG00000164007"}}},"hgnc_date_symbol_changed":"2000-03-15"},"entity_type":"gene","entity_name":"CLDN19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17033971, 22422540, 27530400"],"evidence":["Expert Review Green"],"phenotypes":["Disorders of magnesium metabolism","renal hypomagnesemia 5 with ocular involvement MONDO:0009548"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["PCLN1","HOMG3"],"biotype":"protein_coding","hgnc_id":"HGNC:2037","gene_name":"claudin 16","omim_gene":["603959"],"alias_name":["paracellin-1","hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"],"gene_symbol":"CLDN16","hgnc_symbol":"CLDN16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:190040330-190129932","ensembl_id":"ENSG00000113946"}},"GRch38":{"90":{"location":"3:190322541-190412143","ensembl_id":"ENSG00000113946"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"CLDN16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26426912"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hypomagnesaemia 3, renal, MIM# 248250","Amelogenesis imperfecta"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3564,"hash_id":null,"name":"Amelogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.14","version_created":"2026-01-09T15:02:14.439855+11:00","relevant_disorders":["Amelogenesis imperfecta","HP:0000705"],"stats":{"number_of_genes":41,"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":["ZFYVE23","FLJ39957","FLJ00274"],"biotype":"protein_coding","hgnc_id":"HGNC:19117","gene_name":"FYVE, RhoGEF and PH domain containing 5","omim_gene":["614788"],"alias_name":null,"gene_symbol":"FGD5","hgnc_symbol":"FGD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:14860469-14975895","ensembl_id":"ENSG00000154783"}},"GRch38":{"90":{"location":"3:14810853-14934565","ensembl_id":"ENSG00000154783"}}},"hgnc_date_symbol_changed":"2003-11-25"},"entity_type":"gene","entity_name":"FGD5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41574350","41199744","32037394","30232381"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Congenital heart disease - MONDO:0005453, FGD5-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["URP","UNCL","GMH1"],"biotype":"protein_coding","hgnc_id":"HGNC:16046","gene_name":"unc-50 inner nuclear membrane RNA binding protein","omim_gene":null,"alias_name":null,"gene_symbol":"UNC50","hgnc_symbol":"UNC50","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:99225042-99234978","ensembl_id":"ENSG00000115446"}},"GRch38":{"90":{"location":"2:98608579-98618515","ensembl_id":"ENSG00000115446"}}},"hgnc_date_symbol_changed":"2004-01-21"},"entity_type":"gene","entity_name":"UNC50","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29016857","33820833"],"evidence":["Expert Review Amber","Literature","Expert list"],"phenotypes":["Arthrogryposis multiplex congenita"],"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":["MGC12676","KIAA1297","SPEGalpha","SPEGbeta","BPEG"],"biotype":"protein_coding","hgnc_id":"HGNC:16901","gene_name":"SPEG complex locus","omim_gene":["615950"],"alias_name":null,"gene_symbol":"SPEG","hgnc_symbol":"SPEG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220299568-220363009","ensembl_id":"ENSG00000072195"}},"GRch38":{"90":{"location":"2:219434846-219498287","ensembl_id":"ENSG00000072195"}}},"hgnc_date_symbol_changed":"2006-04-27"},"entity_type":"gene","entity_name":"SPEG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Centronuclear myopathy 5, MIM# 615959"],"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":["FLJ43269"],"biotype":"protein_coding","hgnc_id":"HGNC:26970","gene_name":"COX20, cytochrome c oxidase assembly factor","omim_gene":["614698"],"alias_name":null,"gene_symbol":"COX20","hgnc_symbol":"COX20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:244998624-245008359","ensembl_id":"ENSG00000203667"}},"GRch38":{"90":{"location":"1:244835322-244845057","ensembl_id":"ENSG00000203667"}}},"hgnc_date_symbol_changed":"2012-02-24"},"entity_type":"gene","entity_name":"COX20","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33751098"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fanconi anemia, complementation group B, 300514 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23441","SLM5"],"biotype":"protein_coding","hgnc_id":"HGNC:26274","gene_name":"asparaginyl-tRNA synthetase 2, mitochondrial","omim_gene":["612803"],"alias_name":["asparagine tRNA ligase 2, mitochondrial (putative)"],"gene_symbol":"NARS2","hgnc_symbol":"NARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:78147007-78285919","ensembl_id":"ENSG00000137513"}},"GRch38":{"90":{"location":"11:78435961-78574874","ensembl_id":"ENSG00000137513"}}},"hgnc_date_symbol_changed":"2006-01-17"},"entity_type":"gene","entity_name":"NARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25385316","25807530","30327238","28077841","36252909","33596490","38310242"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UBC2","HHR6A","RAD6A"],"biotype":"protein_coding","hgnc_id":"HGNC:12472","gene_name":"ubiquitin conjugating enzyme E2 A","omim_gene":["312180"],"alias_name":null,"gene_symbol":"UBE2A","hgnc_symbol":"UBE2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:118708501-118718381","ensembl_id":"ENSG00000077721"}},"GRch38":{"90":{"location":"X:119574467-119591083","ensembl_id":"ENSG00000077721"}}},"hgnc_date_symbol_changed":"1992-12-02"},"entity_type":"gene","entity_name":"UBE2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16909393","24053514","21108393","20412111"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD119"],"biotype":"protein_coding","hgnc_id":"HGNC:5439","gene_name":"interferon gamma receptor 1","omim_gene":["107470"],"alias_name":null,"gene_symbol":"IFNGR1","hgnc_symbol":"IFNGR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:137518621-137540586","ensembl_id":"ENSG00000027697"}},"GRch38":{"90":{"location":"6:137197484-137219449","ensembl_id":"ENSG00000027697"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"IFNGR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15589309","10192386","7815885","12244188","10811850","9389728"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunodeficiency 27A, mycobacteriosis, MIM#209950"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XMEA"],"biotype":"protein_coding","hgnc_id":"HGNC:22082","gene_name":"VMA21, vacuolar ATPase assembly factor","omim_gene":["300913"],"alias_name":null,"gene_symbol":"VMA21","hgnc_symbol":"VMA21","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:150564987-150577836","ensembl_id":"ENSG00000160131"}},"GRch38":{"90":{"location":"X:151396515-151409364","ensembl_id":"ENSG00000160131"}}},"hgnc_date_symbol_changed":"2009-01-10"},"entity_type":"gene","entity_name":"VMA21","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27916343","25809233","23315026","36553512"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myopathy, X-linked, with excessive autophagy MIM#310440"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GAN1","KLHL16"],"biotype":"protein_coding","hgnc_id":"HGNC:4137","gene_name":"gigaxonin","omim_gene":["605379"],"alias_name":["kelch-like family member 16"],"gene_symbol":"GAN","hgnc_symbol":"GAN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:81348557-81424489","ensembl_id":"ENSG00000261609"}},"GRch38":{"90":{"location":"16:81314952-81390884","ensembl_id":"ENSG00000261609"}}},"hgnc_date_symbol_changed":"1998-09-14"},"entity_type":"gene","entity_name":"GAN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30532362","11062483"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Giant axonal neuropathy-1, 256850 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Combined oxidative phosphorylation deficiency 8, 614096 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9958","gene_name":"renin","omim_gene":["179820"],"alias_name":null,"gene_symbol":"REN","hgnc_symbol":"REN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:204123944-204135465","ensembl_id":"ENSG00000143839"}},"GRch38":{"90":{"location":"1:204154819-204190324","ensembl_id":"ENSG00000143839"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"REN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Renal tubular dysgenesis MIM#267430"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4623","gene_name":"glutathione-disulfide reductase","omim_gene":["138300"],"alias_name":["glutathione S-reductase"],"gene_symbol":"GSR","hgnc_symbol":"GSR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:30535583-30585443","ensembl_id":"ENSG00000104687"}},"GRch38":{"90":{"location":"8:30678061-30727926","ensembl_id":"ENSG00000104687"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GSR","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["17185460","31122244"],"evidence":["Expert Review Amber","Other"],"phenotypes":["Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531","Disorders of glutathione metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"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":null},{"gene_data":{"alias":["GL009","FLJ14602"],"biotype":"protein_coding","hgnc_id":"HGNC:26926","gene_name":"jagunal homolog 1","omim_gene":["616012"],"alias_name":null,"gene_symbol":"JAGN1","hgnc_symbol":"JAGN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:9932238-9936033","ensembl_id":"ENSG00000171135"}},"GRch38":{"90":{"location":"3:9890554-9894349","ensembl_id":"ENSG00000171135"}}},"hgnc_date_symbol_changed":"2005-01-19"},"entity_type":"gene","entity_name":"JAGN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25129144"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZP434G232","LI2"],"biotype":"protein_coding","hgnc_id":"HGNC:14637","gene_name":"ATP binding cassette subfamily A member 12","omim_gene":["607800"],"alias_name":null,"gene_symbol":"ABCA12","hgnc_symbol":"ABCA12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:215796266-216003151","ensembl_id":"ENSG00000144452"}},"GRch38":{"90":{"location":"2:214931542-215138428","ensembl_id":"ENSG00000144452"}}},"hgnc_date_symbol_changed":"2001-08-16"},"entity_type":"gene","entity_name":"ABCA12","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 4A (MIM#601277)","Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TDP-43","ALS10"],"biotype":"protein_coding","hgnc_id":"HGNC:11571","gene_name":"TAR DNA binding protein","omim_gene":["605078"],"alias_name":null,"gene_symbol":"TARDBP","hgnc_symbol":"TARDBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11072414-11085796","ensembl_id":"ENSG00000120948"}},"GRch38":{"90":{"location":"1:11012344-11026420","ensembl_id":"ENSG00000120948"}}},"hgnc_date_symbol_changed":"2000-01-28"},"entity_type":"gene","entity_name":"TARDBP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Amyotrophic lateral sclerosis type 10"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":["22420015"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20450","mtSerRS","SerRSmt","SARS","SERS","SYS"],"biotype":"protein_coding","hgnc_id":"HGNC:17697","gene_name":"seryl-tRNA synthetase 2, mitochondrial","omim_gene":["612804"],"alias_name":["serine tRNA ligase 2, mitochondrial"],"gene_symbol":"SARS2","hgnc_symbol":"SARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:39405906-39440495","ensembl_id":"ENSG00000104835"}},"GRch38":{"90":{"location":"19:38915266-38930896","ensembl_id":"ENSG00000104835"}}},"hgnc_date_symbol_changed":"2002-10-09"},"entity_type":"gene","entity_name":"SARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35790048","28236339","36041817","34570399"],"evidence":["Expert Review Green","KidGen_Magnesium v38.1.0","Expert Review Green","KidGen_MetabolicRenal v38.1.0","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["neurodevelopmental disorder MONDO#070009, SARS1-related"],"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":["PCN3","P450PCN3","CP35"],"biotype":"protein_coding","hgnc_id":"HGNC:2638","gene_name":"cytochrome P450 family 3 subfamily A member 5","omim_gene":["605325"],"alias_name":null,"gene_symbol":"CYP3A5","hgnc_symbol":"CYP3A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:99245817-99277621","ensembl_id":"ENSG00000106258"}},"GRch38":{"90":{"location":"7:99648194-99679998","ensembl_id":"ENSG00000106258"}}},"hgnc_date_symbol_changed":"1990-02-24"},"entity_type":"gene","entity_name":"CYP3A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hypertension, salt-sensitive essential, susceptibility to MIM#145500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2153","gene_name":"cyclic nucleotide gated channel beta 3","omim_gene":["605080"],"alias_name":null,"gene_symbol":"CNGB3","hgnc_symbol":"CNGB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:87566205-87755903","ensembl_id":"ENSG00000170289"}},"GRch38":{"90":{"location":"8:86553977-86743675","ensembl_id":"ENSG00000170289"}}},"hgnc_date_symbol_changed":"2000-07-12"},"entity_type":"gene","entity_name":"CNGB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17265047","28795510","12140185","28795510"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Achromatopsia 3 MIM#262300"],"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":["H_DJ0042M02.9","HNPCC4","MLH4"],"biotype":"protein_coding","hgnc_id":"HGNC:9122","gene_name":"PMS1 homolog 2, mismatch repair system component","omim_gene":["600259"],"alias_name":null,"gene_symbol":"PMS2","hgnc_symbol":"PMS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:6012870-6048756","ensembl_id":"ENSG00000122512"}},"GRch38":{"90":{"location":"7:5973239-6009125","ensembl_id":"ENSG00000122512"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"PMS2","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","Lynch syndrome 4, MONDO:0013699","Mismatch repair cancer syndrome 4, MONDO:0030843","Lynch syndrome 4, MIM#614337","Mismatch repair cancer syndrome 4, MIM#619101"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":["KALIG-1","WFDC19"],"biotype":"protein_coding","hgnc_id":"HGNC:6211","gene_name":"anosmin 1","omim_gene":["300836"],"alias_name":["anosmin-1","WAP four-disulfide core domain 19","Adhesion molecule-like, X-linked","Kallmann syndrome interval gene 1"],"gene_symbol":"ANOS1","hgnc_symbol":"ANOS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:8496915-8700227","ensembl_id":"ENSG00000011201"}},"GRch38":{"90":{"location":"X:8528874-8732186","ensembl_id":"ENSG00000011201"}}},"hgnc_date_symbol_changed":"2015-04-10"},"entity_type":"gene","entity_name":"ANOS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40508017","40262549","40258767","40101754","16882753"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21918"],"biotype":"protein_coding","hgnc_id":"HGNC:26152","gene_name":"epithelial splicing regulatory protein 2","omim_gene":["612960"],"alias_name":null,"gene_symbol":"ESRP2","hgnc_symbol":"ESRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:68263014-68272005","ensembl_id":"ENSG00000103067"}},"GRch38":{"90":{"location":"16:68229111-68238102","ensembl_id":"ENSG00000103067"}}},"hgnc_date_symbol_changed":"2009-03-10"},"entity_type":"gene","entity_name":"ESRP2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["29805042"],"evidence":["Expert Review Amber","Expert list","Expert list"],"phenotypes":["Cleft palate, MONDO:0016064","Hypopituitarism MONDO:0005152"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATX2"],"biotype":"protein_coding","hgnc_id":"HGNC:10555","gene_name":"ataxin 2","omim_gene":["601517"],"alias_name":["trinucleotide repeat containing 13"],"gene_symbol":"ATXN2","hgnc_symbol":"ATXN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111890018-112037480","ensembl_id":"ENSG00000204842"}},"GRch38":{"90":{"location":"12:111452214-111599676","ensembl_id":"ENSG00000204842"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"str","entity_name":"ATXN2_SCA2_CAG","confidence_level":"3","penetrance":null,"publications":["40741828"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spinocerebellar ataxia type 2 MONDO:0008458"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"12","grch37_coordinates":[112036755,112036823],"grch38_coordinates":[111598951,111599019],"normal_repeats":31,"pathogenic_repeats":35,"tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"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":[]}}]}