{"count":36079,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=169","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=167","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10896","gene_name":"SKI proto-oncogene","omim_gene":["164780"],"alias_name":null,"gene_symbol":"SKI","hgnc_symbol":"SKI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:2160134-2241558","ensembl_id":"ENSG00000157933"}},"GRch38":{"90":{"location":"1:2228695-2310119","ensembl_id":"ENSG00000157933"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SKI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30071989","23023332","24736733"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Shprintzen-Goldberg syndrome, MIM#182212"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1912","gene_name":"choline O-acetyltransferase","omim_gene":["118490"],"alias_name":null,"gene_symbol":"CHAT","hgnc_symbol":"CHAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50817141-50901925","ensembl_id":"ENSG00000070748"}},"GRch38":{"90":{"location":"10:49609095-49665104","ensembl_id":"ENSG00000070748"}}},"hgnc_date_symbol_changed":"1990-03-14"},"entity_type":"gene","entity_name":"CHAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11172068","12756141","31192527","29518833","29189923"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myasthenic syndrome, congenital, 6, presynaptic, 254210"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). 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associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.207","version_created":"2026-04-15T16:43:07.852176+10:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8857","gene_name":"peroxisomal biogenesis factor 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conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14840","ANCHR"],"biotype":"protein_coding","hgnc_id":"HGNC:20758","gene_name":"zinc finger FYVE-type containing 19","omim_gene":null,"alias_name":["abscission/nocut checkpoint regulator"],"gene_symbol":"ZFYVE19","hgnc_symbol":"ZFYVE19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:41099284-41106767","ensembl_id":"ENSG00000166140"}},"GRch38":{"90":{"location":"15:40807086-40815084","ensembl_id":"ENSG00000166140"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"ZFYVE19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32737136"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cholestasis"],"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":[]},{"gene_data":{"alias":["TEL1","TELO1"],"biotype":"protein_coding","hgnc_id":"HGNC:795","gene_name":"ATM serine/threonine kinase","omim_gene":["607585"],"alias_name":["TEL1, telomere maintenance 1, homolog (S. cerevisiae)"],"gene_symbol":"ATM","hgnc_symbol":"ATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:108093211-108239829","ensembl_id":"ENSG00000149311"}},"GRch38":{"90":{"location":"11:108222484-108369102","ensembl_id":"ENSG00000149311"}}},"hgnc_date_symbol_changed":"1995-07-07"},"entity_type":"gene","entity_name":"ATM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ataxia-telangiectasia, MIM# 208900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":79,"hash_id":null,"name":"Chromosome Breakage Disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. 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Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MEKK","MAPKKK1"],"biotype":"protein_coding","hgnc_id":"HGNC:6848","gene_name":"mitogen-activated protein kinase kinase kinase 1","omim_gene":["600982"],"alias_name":null,"gene_symbol":"MAP3K1","hgnc_symbol":"MAP3K1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:56111401-56191979","ensembl_id":"ENSG00000095015"}},"GRch38":{"90":{"location":"5:56815574-56896152","ensembl_id":"ENSG00000095015"}}},"hgnc_date_symbol_changed":"1997-11-14"},"entity_type":"gene","entity_name":"MAP3K1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21129722","32986312"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["46XY sex reversal 6 (MIM#613762)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. 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Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.52","version_created":"2026-04-23T10:59:57.828482+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5389","gene_name":"iduronate 2-sulfatase","omim_gene":["300823"],"alias_name":["Hunter syndrome"],"gene_symbol":"IDS","hgnc_symbol":"IDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:148558521-148615470","ensembl_id":"ENSG00000010404"}},"GRch38":{"90":{"location":"X:149476990-149521096","ensembl_id":"ENSG00000010404"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IDS","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; 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It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TP53BPL","LUN"],"biotype":"protein_coding","hgnc_id":"HGNC:21653","gene_name":"TOP1 binding arginine/serine rich protein","omim_gene":["609507"],"alias_name":null,"gene_symbol":"TOPORS","hgnc_symbol":"TOPORS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:32540542-32552551","ensembl_id":"ENSG00000197579"}},"GRch38":{"90":{"location":"9:32540544-32552553","ensembl_id":"ENSG00000197579"}}},"hgnc_date_symbol_changed":"2003-07-07"},"entity_type":"gene","entity_name":"TOPORS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37227088","34132027"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Joubert syndrome, MONDO:0018772, TOPORS-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"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":["KIAA0111","EIF4AIII","Fal1"],"biotype":"protein_coding","hgnc_id":"HGNC:18683","gene_name":"eukaryotic translation initiation factor 4A3","omim_gene":["608546"],"alias_name":null,"gene_symbol":"EIF4A3","hgnc_symbol":"EIF4A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78109013-78120982","ensembl_id":"ENSG00000141543"}},"GRch38":{"90":{"location":"17:80135214-80147183","ensembl_id":"ENSG00000141543"}}},"hgnc_date_symbol_changed":"2006-11-27"},"entity_type":"gene","entity_name":"EIF4A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24360810"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Robin sequence with cleft mandible and limb anomalies, MIM# 268305","Richieri-Costa-Pereira syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["STR"],"panel":{"id":136,"hash_id":null,"name":"Mandibulofacial Acrofacial dysostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel contains genes associated with the facial dysostoses, which can be subdivided into mandibulofacial dysostoses, which present with craniofacial defects only, and acrofacial dysostoses, which encompass both craniofacial and limb anomalies. Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.","status":"public","version":"1.22","version_created":"2026-03-25T17:21:58.910310+11:00","relevant_disorders":["Craniofacial dysostosis","HP:0004439"],"stats":{"number_of_genes":35,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3772","gene_name":"flavin containing monooxygenase 4","omim_gene":["136131"],"alias_name":null,"gene_symbol":"FMO4","hgnc_symbol":"FMO4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:171283347-171311223","ensembl_id":"ENSG00000076258"}},"GRch38":{"90":{"location":"1:171314208-171342084","ensembl_id":"ENSG00000076258"}}},"hgnc_date_symbol_changed":"1991-08-01"},"entity_type":"gene","entity_name":"FMO4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["41714691, 28940097"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092","FMO4 related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MAN1"],"biotype":"protein_coding","hgnc_id":"HGNC:28887","gene_name":"LEM domain containing 3","omim_gene":["607844"],"alias_name":null,"gene_symbol":"LEMD3","hgnc_symbol":"LEMD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:65563351-65642107","ensembl_id":"ENSG00000174106"}},"GRch38":{"90":{"location":"12:65169571-65248327","ensembl_id":"ENSG00000174106"}}},"hgnc_date_symbol_changed":"2004-11-01"},"entity_type":"gene","entity_name":"LEMD3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34098227","33598273","32519343","32151766","32151766"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Buschke-Ollendorff syndrome MIM#166700","Osteopoikilosis with or without melorheostosis MIM#166700"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bK268H5"],"biotype":"protein_coding","hgnc_id":"HGNC:11112","gene_name":"structural maintenance of chromosomes 1B","omim_gene":["608685"],"alias_name":null,"gene_symbol":"SMC1B","hgnc_symbol":"SMC1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:45739944-45809500","ensembl_id":"ENSG00000077935"}},"GRch38":{"90":{"location":"22:45344063-45413619","ensembl_id":"ENSG00000077935"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC1B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40180776","27603904"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Infertility disorder, MONDO:0005047, SMC1B-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["botv","REGR"],"biotype":"protein_coding","hgnc_id":"HGNC:3518","gene_name":"exostosin like glycosyltransferase 3","omim_gene":["605744"],"alias_name":["REG receptor","glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"],"gene_symbol":"EXTL3","hgnc_symbol":"EXTL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:28457986-28613116","ensembl_id":"ENSG00000012232"}},"GRch38":{"90":{"location":"8:28600469-28755599","ensembl_id":"ENSG00000012232"}}},"hgnc_date_symbol_changed":"1998-03-20"},"entity_type":"gene","entity_name":"EXTL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28132690","28148688","28331220"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPD3","HD3","RPD3-2"],"biotype":"protein_coding","hgnc_id":"HGNC:4854","gene_name":"histone deacetylase 3","omim_gene":["605166"],"alias_name":null,"gene_symbol":"HDAC3","hgnc_symbol":"HDAC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:141000443-141016437","ensembl_id":"ENSG00000171720"}},"GRch38":{"90":{"location":"5:141620876-141636870","ensembl_id":"ENSG00000171720"}}},"hgnc_date_symbol_changed":"1999-01-29"},"entity_type":"gene","entity_name":"HDAC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39047730"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, HDAC3-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HSP75","HSP90L"],"biotype":"protein_coding","hgnc_id":"HGNC:16264","gene_name":"TNF receptor associated protein 1","omim_gene":["606219"],"alias_name":null,"gene_symbol":"TRAP1","hgnc_symbol":"TRAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3701640-3767598","ensembl_id":"ENSG00000126602"}},"GRch38":{"90":{"location":"16:3651639-3717597","ensembl_id":"ENSG00000126602"}}},"hgnc_date_symbol_changed":"2004-07-02"},"entity_type":"gene","entity_name":"TRAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24152966"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Syndromic disease, MONDO:0002254, TRAP1-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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HNF-6"],"biotype":"protein_coding","hgnc_id":"HGNC:8138","gene_name":"one cut homeobox 1","omim_gene":["604164"],"alias_name":null,"gene_symbol":"ONECUT1","hgnc_symbol":"ONECUT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:53049637-53083273","ensembl_id":"ENSG00000169856"}},"GRch38":{"90":{"location":"15:52756989-52791078","ensembl_id":"ENSG00000169856"}}},"hgnc_date_symbol_changed":"2000-02-11"},"entity_type":"gene","entity_name":"ONECUT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37639628","34663987","10825208"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neonatal diabetes mellitus MONDO:0016391"],"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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RIM","KIAA0340","RIM1"],"biotype":"protein_coding","hgnc_id":"HGNC:17282","gene_name":"regulating synaptic membrane exocytosis 1","omim_gene":["606629"],"alias_name":["Rab3-interacting molecule"],"gene_symbol":"RIMS1","hgnc_symbol":"RIMS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:72596406-73112845","ensembl_id":"ENSG00000079841"}},"GRch38":{"90":{"location":"6:71886703-72403143","ensembl_id":"ENSG00000079841"}}},"hgnc_date_symbol_changed":"2002-06-14"},"entity_type":"gene","entity_name":"RIMS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12659814","25284784","25961944"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cone-rod dystrophy 7 , MIM#603649","Autism MONDO:0005260"],"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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GPM6C"],"biotype":"protein_coding","hgnc_id":"HGNC:9086","gene_name":"proteolipid protein 1","omim_gene":["300401"],"alias_name":["Pelizaeus-Merzbacher disease"],"gene_symbol":"PLP1","hgnc_symbol":"PLP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:103028647-103047548","ensembl_id":"ENSG00000123560"}},"GRch38":{"90":{"location":"X:103773718-103792619","ensembl_id":"ENSG00000123560"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PLP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301361"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pelizaeus-Merzbacher disease MIM#312080","Spastic paraplegia 2, X-linked MIM#312920"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC50811"],"biotype":"protein_coding","hgnc_id":"HGNC:25062","gene_name":"ciliogenesis associated TTC17 interacting protein","omim_gene":null,"alias_name":null,"gene_symbol":"CATIP","hgnc_symbol":"CATIP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219221579-219232822","ensembl_id":"ENSG00000158428"}},"GRch38":{"90":{"location":"2:218356856-218368099","ensembl_id":"ENSG00000158428"}}},"hgnc_date_symbol_changed":"2014-02-06"},"entity_type":"gene","entity_name":"CATIP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["32503832"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Spermatogenic failure 54, MIM#\t619379"],"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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ13621"],"biotype":"protein_coding","hgnc_id":"HGNC:29086","gene_name":"centrosomal protein 135","omim_gene":["611423"],"alias_name":null,"gene_symbol":"CEP135","hgnc_symbol":"CEP135","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:56815037-56899529","ensembl_id":"ENSG00000174799"}},"GRch38":{"90":{"location":"4:55948871-56033363","ensembl_id":"ENSG00000174799"}}},"hgnc_date_symbol_changed":"2005-12-02"},"entity_type":"gene","entity_name":"CEP135","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30214071","22521416"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephalic primordial dwarfism","Microcephaly 8, primary, autosomal recessive, 614673"],"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":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:15832","gene_name":"BSCL2, seipin lipid droplet biogenesis associated","omim_gene":["606158"],"alias_name":null,"gene_symbol":"BSCL2","hgnc_symbol":"BSCL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62457747-62477317","ensembl_id":"ENSG00000168000"}},"GRch38":{"90":{"location":"11:62690275-62709845","ensembl_id":"ENSG00000168000"}}},"hgnc_date_symbol_changed":"2001-07-02"},"entity_type":"gene","entity_name":"BSCL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14981520","15732094","11479539","15181077","15126564","23564749","31369919","35290466"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neuropathy, distal hereditary motor, type VC, MIM# 619112","Encephalopathy, progressive, with or without lipodystrophy, MIM#615924","Lipodystrophy, congenital generalized, type 2, MIM# 269700","Silver spastic paraplegia syndrome, MIM# 270685","Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NARS1"],"biotype":"protein_coding","hgnc_id":"HGNC:7643","gene_name":"asparaginyl-tRNA synthetase","omim_gene":["108410"],"alias_name":["asparagine tRNA ligase 1, cytoplasmic"],"gene_symbol":"NARS","hgnc_symbol":"NARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:55267888-55289445","ensembl_id":"ENSG00000134440"}},"GRch38":{"90":{"location":"18:57600656-57622213","ensembl_id":"ENSG00000134440"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32738225","32788587"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive - MIM#619091","Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant - MIM#619092"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["new gene name"],"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":"1.428","version_created":"2026-04-26T12:52:13.066925+10:00","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":null},{"gene_data":{"alias":["UNC45"],"biotype":"protein_coding","hgnc_id":"HGNC:14304","gene_name":"unc-45 myosin chaperone B","omim_gene":["611220"],"alias_name":null,"gene_symbol":"UNC45B","hgnc_symbol":"UNC45B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33474836-33516364","ensembl_id":"ENSG00000141161"}},"GRch38":{"90":{"location":"17:35147817-35189345","ensembl_id":"ENSG00000141161"}}},"hgnc_date_symbol_changed":"2005-11-17"},"entity_type":"gene","entity_name":"UNC45B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":[],"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":[]},{"gene_data":{"alias":["CMG1","CMG-1","FLJ22621"],"biotype":"protein_coding","hgnc_id":"HGNC:21424","gene_name":"intraflagellar transport 74","omim_gene":["608040"],"alias_name":["capillary morphogenesis protein 1"],"gene_symbol":"IFT74","hgnc_symbol":"IFT74","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:26947037-27062928","ensembl_id":"ENSG00000096872"}},"GRch38":{"90":{"location":"9:26947039-27062930","ensembl_id":"ENSG00000096872"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT74","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37315079"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Jeune syndrome (MONDO:0018770), IFT74-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":179,"hash_id":null,"name":"Skeletal Ciliopathies","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.","status":"public","version":"1.23","version_created":"2026-02-26T20:48:41.390236+11:00","relevant_disorders":["Short rib","HP:0000773; Polydactyly","HP:0010442; Bell-shaped thorax","HP:0001591"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0042"],"biotype":"protein_coding","hgnc_id":"HGNC:19181","gene_name":"kinesin family member 14","omim_gene":["611279"],"alias_name":null,"gene_symbol":"KIF14","hgnc_symbol":"KIF14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:200520628-200589862","ensembl_id":"ENSG00000118193"}},"GRch38":{"90":{"location":"1:200551497-200620734","ensembl_id":"ENSG00000118193"}}},"hgnc_date_symbol_changed":"2002-09-12"},"entity_type":"gene","entity_name":"KIF14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","KidGen_CilioNephronop v38.1.0"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GP130","LRP130"],"biotype":"protein_coding","hgnc_id":"HGNC:15714","gene_name":"leucine rich pentatricopeptide repeat containing","omim_gene":["607544"],"alias_name":null,"gene_symbol":"LRPPRC","hgnc_symbol":"LRPPRC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44113647-44223144","ensembl_id":"ENSG00000138095"}},"GRch38":{"90":{"location":"2:43886508-43996005","ensembl_id":"ENSG00000138095"}}},"hgnc_date_symbol_changed":"2001-06-04"},"entity_type":"gene","entity_name":"LRPPRC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21266382","26510951","38046674","29152527"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) (MIM#220111)"],"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":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"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":["RC3","KIAA0856","DFNA71"],"biotype":"protein_coding","hgnc_id":"HGNC:2938","gene_name":"Dmx like 2","omim_gene":["612186"],"alias_name":["rabconnectin 3"],"gene_symbol":"DMXL2","hgnc_symbol":"DMXL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51739908-51915030","ensembl_id":"ENSG00000104093"}},"GRch38":{"90":{"location":"15:51447711-51622833","ensembl_id":"ENSG00000104093"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DMXL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31688942","30237576"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epileptic encephalopathy, early infantile, 81, MIM#\t618663"],"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":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"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":["FLJ20561","HsT18960","nclf"],"biotype":"protein_coding","hgnc_id":"HGNC:2077","gene_name":"CLN6, transmembrane ER protein","omim_gene":["606725"],"alias_name":null,"gene_symbol":"CLN6","hgnc_symbol":"CLN6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:68499330-68549549","ensembl_id":"ENSG00000128973"}},"GRch38":{"90":{"location":"15:68206992-68257211","ensembl_id":"ENSG00000128973"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"CLN6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11448","gene_name":"succinate-CoA ligase ADP-forming beta subunit","omim_gene":["603921"],"alias_name":["succinate--CoA ligase (ADP-forming)"],"gene_symbol":"SUCLA2","hgnc_symbol":"SUCLA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:48510622-48612125","ensembl_id":"ENSG00000136143"}},"GRch38":{"90":{"location":"13:47936491-48001354","ensembl_id":"ENSG00000136143"}}},"hgnc_date_symbol_changed":"1998-11-11"},"entity_type":"gene","entity_name":"SUCLA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15877282","17287286","17301081","23759946","33231368","33230181","28243576","27913098","27651038"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CMPD4","FLJ32040","TMD","CMH9","LGMD2J","MYLK5"],"biotype":"protein_coding","hgnc_id":"HGNC:12403","gene_name":"titin","omim_gene":["188840"],"alias_name":null,"gene_symbol":"TTN","hgnc_symbol":"TTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:179390716-179695529","ensembl_id":"ENSG00000155657"}},"GRch38":{"90":{"location":"2:178525989-178830802","ensembl_id":"ENSG00000155657"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"TTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34012068"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cardiomyopathy, dilated, 1G, MIM#\t604145"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PCASP1"],"biotype":"protein_coding","hgnc_id":"HGNC:6819","gene_name":"MALT1 paracaspase","omim_gene":["604860"],"alias_name":["MALT1 protease","paracaspase 1"],"gene_symbol":"MALT1","hgnc_symbol":"MALT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:56338618-56417371","ensembl_id":"ENSG00000172175"}},"GRch38":{"90":{"location":"18:58671386-58754477","ensembl_id":"ENSG00000172175"}}},"hgnc_date_symbol_changed":"1999-08-02"},"entity_type":"gene","entity_name":"MALT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23727036","24332264","14576442","31037583"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 12 MIM# 615468","poor T-cell proliferation","normal T/B cell numbers","poor specific antibody response","recurrent bacterial/fungal/viral infections","bronchiectasis","failure to thrive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PRO2249","CNA43","DNA43"],"biotype":"protein_coding","hgnc_id":"HGNC:18043","gene_name":"minichromosome maintenance 10 replication initiation factor","omim_gene":["609357"],"alias_name":null,"gene_symbol":"MCM10","hgnc_symbol":"MCM10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:13203554-13253104","ensembl_id":"ENSG00000065328"}},"GRch38":{"90":{"location":"10:13161554-13211104","ensembl_id":"ENSG00000065328"}}},"hgnc_date_symbol_changed":"2002-01-22"},"entity_type":"gene","entity_name":"MCM10","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). 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The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ33207"],"biotype":"protein_coding","hgnc_id":"HGNC:26576","gene_name":"kyphoscoliosis peptidase","omim_gene":["605739"],"alias_name":null,"gene_symbol":"KY","hgnc_symbol":"KY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:134321980-134370478","ensembl_id":"ENSG00000174611"}},"GRch38":{"90":{"location":"3:134603138-134651636","ensembl_id":"ENSG00000174611"}}},"hgnc_date_symbol_changed":"2004-06-25"},"entity_type":"gene","entity_name":"KY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27484770","27485408","30591934","11136708"],"evidence":["Expert Review Green","Other","Expert Review Green"],"phenotypes":["Myopathy, myofibrillar, 7 (MIM#617114)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. 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VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PURALPHA","PUR1","PUR-ALPHA"],"biotype":"protein_coding","hgnc_id":"HGNC:9701","gene_name":"purine rich element binding protein A","omim_gene":["600473"],"alias_name":null,"gene_symbol":"PURA","hgnc_symbol":"PURA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:139487362-139496321","ensembl_id":"ENSG00000185129"}},"GRch38":{"90":{"location":"5:140107777-140125619","ensembl_id":"ENSG00000185129"}}},"hgnc_date_symbol_changed":"1993-10-19"},"entity_type":"gene","entity_name":"PURA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36768582"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3078,"hash_id":null,"name":"Congenital Myasthenia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the Congenital Myasthenia panels developed by the Royal Melbourne Hospital and by the Victorian Clinical Genetics Services.\r\n\r\nThis panel has been compared against the Genomics England 'Congenital myasthenic syndrome' panel V2.2, with all discrepancies resolved and reciprocal provided to Genomics England.","status":"public","version":"1.20","version_created":"2026-01-02T17:01:50.322172+11:00","relevant_disorders":["Fatiguable weakness HP:0003473;Hypotonia HP:0001252"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ35779","MGC120442","MGC120443","MGC120444","hPOC5"],"biotype":"protein_coding","hgnc_id":"HGNC:26658","gene_name":"POC5 centriolar protein","omim_gene":null,"alias_name":null,"gene_symbol":"POC5","hgnc_symbol":"POC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:74969949-75013313","ensembl_id":"ENSG00000152359"}},"GRch38":{"90":{"location":"5:75674124-75717481","ensembl_id":"ENSG00000152359"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40590205","29272404"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliopathy, MONDO:0005308, POC5-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PPARG1","PPARG2","NR1C3","PPARgamma"],"biotype":"protein_coding","hgnc_id":"HGNC:9236","gene_name":"peroxisome proliferator activated receptor gamma","omim_gene":["601487"],"alias_name":null,"gene_symbol":"PPARG","hgnc_symbol":"PPARG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:12328867-12475855","ensembl_id":"ENSG00000132170"}},"GRch38":{"90":{"location":"3:12287368-12434356","ensembl_id":"ENSG00000132170"}}},"hgnc_date_symbol_changed":"1996-03-12"},"entity_type":"gene","entity_name":"PPARG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Insulin resistance, severe, digenic","FPLD3","Obesity, severe, 601665","{Diabetes, type 2}, 125853","Lipodystrophy, familial partial, type 3","Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension","Insulin resistance, severe, digenic 604367","[Obesity, resistance to]","Lipodystrophy, familial partial, type 3, 604367","Insulin resistance, severe, digenic, 604367","Lipodystrophy, familial partial, type 3 604367","LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3","Carotid intimal medial thickness 1, 609338"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NFE1B"],"biotype":"protein_coding","hgnc_id":"HGNC:4171","gene_name":"GATA binding protein 2","omim_gene":["137295"],"alias_name":null,"gene_symbol":"GATA2","hgnc_symbol":"GATA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128198270-128212028","ensembl_id":"ENSG00000179348"}},"GRch38":{"90":{"location":"3:128479427-128493185","ensembl_id":"ENSG00000179348"}}},"hgnc_date_symbol_changed":"1992-11-03"},"entity_type":"gene","entity_name":"GATA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21892158"],"evidence":["Expert Review Green","UKGTN","Illumina TruGenome Clinical Sequencing Services","London South GLH"],"phenotypes":["{Myelodysplastic syndrome, susceptibility to}\t614286","Emberger Syndrome 614038"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ME2","HFMI2","FMI2","CDHF9","ADGRC1"],"biotype":"protein_coding","hgnc_id":"HGNC:1850","gene_name":"cadherin EGF LAG seven-pass G-type receptor 1","omim_gene":["604523"],"alias_name":["flamingo homolog 2 (Drosophila)","adhesion G protein-coupled receptor 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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12541"],"biotype":"protein_coding","hgnc_id":"HGNC:30650","gene_name":"stimulated by retinoic acid 6","omim_gene":["610745"],"alias_name":["retinol binding protein 4 receptor"],"gene_symbol":"STRA6","hgnc_symbol":"STRA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:74471807-74504608","ensembl_id":"ENSG00000137868"}},"GRch38":{"90":{"location":"15:74179466-74212267","ensembl_id":"ENSG00000137868"}}},"hgnc_date_symbol_changed":"2004-12-20"},"entity_type":"gene","entity_name":"STRA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microphthalmia, isolated, with coloboma 8, 601186 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8966","gene_name":"phosphatidylinositol glycan anchor biosynthesis class L","omim_gene":["605947"],"alias_name":["N-acetylglucosaminylphosphatidylinositol deacetylase"],"gene_symbol":"PIGL","hgnc_symbol":"PIGL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:16120505-16252115","ensembl_id":"ENSG00000108474"}},"GRch38":{"90":{"location":"17:16217191-16351797","ensembl_id":"ENSG00000108474"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"PIGL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["CHIME syndrome, 280000 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NY-REN-43","MGC15161"],"biotype":"protein_coding","hgnc_id":"HGNC:13429","gene_name":"ring finger protein, LIM domain interacting","omim_gene":["300379"],"alias_name":["ring zinc finger protein NY-REN-43antigen","LIM domain interacting ring finger protein","E3 ubiquitin-protein ligase RLIM"],"gene_symbol":"RLIM","hgnc_symbol":"RLIM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73805052-73834452","ensembl_id":"ENSG00000131263"}},"GRch38":{"90":{"location":"X:74585217-74614617","ensembl_id":"ENSG00000131263"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RLIM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mental retardation, X-linked 61, 300978 (3), X-linked recessive"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1780"],"biotype":"protein_coding","hgnc_id":"HGNC:29634","gene_name":"multiple EGF like domains 10","omim_gene":["612453"],"alias_name":null,"gene_symbol":"MEGF10","hgnc_symbol":"MEGF10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:126626523-126801429","ensembl_id":"ENSG00000145794"}},"GRch38":{"90":{"location":"5:127290831-127465737","ensembl_id":"ENSG00000145794"}}},"hgnc_date_symbol_changed":"2006-03-31"},"entity_type":"gene","entity_name":"MEGF10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:746","gene_name":"argininosuccinate lyase","omim_gene":["608310"],"alias_name":null,"gene_symbol":"ASL","hgnc_symbol":"ASL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:65540785-65558545","ensembl_id":"ENSG00000126522"}},"GRch38":{"90":{"location":"7:66075798-66093558","ensembl_id":"ENSG00000126522"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ASL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Argininosuccinic aciduria, 207900 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MER3","FLJ39011","FLJ36760"],"biotype":"protein_coding","hgnc_id":"HGNC:20193","gene_name":"HFM1, ATP dependent DNA helicase homolog","omim_gene":["615684"],"alias_name":null,"gene_symbol":"HFM1","hgnc_symbol":"HFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:91726323-91870426","ensembl_id":"ENSG00000162669"}},"GRch38":{"90":{"location":"1:91260766-91404869","ensembl_id":"ENSG00000162669"}}},"hgnc_date_symbol_changed":"2005-07-29"},"entity_type":"gene","entity_name":"HFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23555294","24597873","31279343"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Premature ovarian failure 9,615724"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HP","ARHGAP7","STARD12","DLC-1","p122-RhoGAP"],"biotype":"protein_coding","hgnc_id":"HGNC:2897","gene_name":"DLC1 Rho GTPase activating protein","omim_gene":["604258"],"alias_name":["StAR-related lipid transfer (START) domain containing 12"],"gene_symbol":"DLC1","hgnc_symbol":"DLC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:12940870-13373167","ensembl_id":"ENSG00000164741"}},"GRch38":{"90":{"location":"8:13083361-13604610","ensembl_id":"ENSG00000164741"}}},"hgnc_date_symbol_changed":"1999-06-17"},"entity_type":"gene","entity_name":"DLC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital heart disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4982","gene_name":"hydroxymethylbilane synthase","omim_gene":["609806"],"alias_name":null,"gene_symbol":"HMBS","hgnc_symbol":"HMBS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118955576-118964259","ensembl_id":"ENSG00000256269"}},"GRch38":{"90":{"location":"11:119084866-119093549","ensembl_id":"ENSG00000256269"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"HMBS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Porphyria, acute intermittent"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11448","gene_name":"succinate-CoA ligase ADP-forming beta subunit","omim_gene":["603921"],"alias_name":["succinate--CoA ligase (ADP-forming)"],"gene_symbol":"SUCLA2","hgnc_symbol":"SUCLA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:48510622-48612125","ensembl_id":"ENSG00000136143"}},"GRch38":{"90":{"location":"13:47936491-48001354","ensembl_id":"ENSG00000136143"}}},"hgnc_date_symbol_changed":"1998-11-11"},"entity_type":"gene","entity_name":"SUCLA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SBBI88","Mg11","HDDC1","MOP-5","AGS5"],"biotype":"protein_coding","hgnc_id":"HGNC:15925","gene_name":"SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1","omim_gene":["606754"],"alias_name":["HD domain containing 1","monocyte protein 5","Aicardi-Goutieres syndrome 5"],"gene_symbol":"SAMHD1","hgnc_symbol":"SAMHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:35518632-35580246","ensembl_id":"ENSG00000101347"}},"GRch38":{"90":{"location":"20:36890229-36951843","ensembl_id":"ENSG00000101347"}}},"hgnc_date_symbol_changed":"2001-07-31"},"entity_type":"gene","entity_name":"SAMHD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Aicardi-Goutieres syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["POLZ","REV3"],"biotype":"protein_coding","hgnc_id":"HGNC:9968","gene_name":"REV3 like, DNA directed polymerase zeta catalytic subunit","omim_gene":["602776"],"alias_name":["polymerase, DNA, zeta"],"gene_symbol":"REV3L","hgnc_symbol":"REV3L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:111620234-111804918","ensembl_id":"ENSG00000009413"}},"GRch38":{"90":{"location":"6:111299028-111483715","ensembl_id":"ENSG00000009413"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"REV3L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 26068067"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Möbius syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MAT","SAMS","MATA1","SAMS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6903","gene_name":"methionine adenosyltransferase 1A","omim_gene":["610550"],"alias_name":["S-adenosylmethionine synthetase"],"gene_symbol":"MAT1A","hgnc_symbol":"MAT1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:82031576-82049440","ensembl_id":"ENSG00000151224"}},"GRch38":{"90":{"location":"10:80271820-80289684","ensembl_id":"ENSG00000151224"}}},"hgnc_date_symbol_changed":"1997-07-01"},"entity_type":"gene","entity_name":"MAT1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","7560086"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850","Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850","Disorders of the metabolism of sulphur amino acids"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ARFL3"],"biotype":"protein_coding","hgnc_id":"HGNC:694","gene_name":"ADP ribosylation factor like GTPase 3","omim_gene":["604695"],"alias_name":null,"gene_symbol":"ARL3","hgnc_symbol":"ARL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104433488-104474164","ensembl_id":"ENSG00000138175"}},"GRch38":{"90":{"location":"10:102673731-102714407","ensembl_id":"ENSG00000138175"}}},"hgnc_date_symbol_changed":"1994-04-14"},"entity_type":"gene","entity_name":"ARL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30269812","16565502"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Joubert syndrome 35- MIM#618161"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC4293"],"biotype":"protein_coding","hgnc_id":"HGNC:28662","gene_name":"deoxyhypusine hydroxylase","omim_gene":["611262"],"alias_name":null,"gene_symbol":"DOHH","hgnc_symbol":"DOHH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3490819-3500938","ensembl_id":"ENSG00000129932"}},"GRch38":{"90":{"location":"19:3490822-3500940","ensembl_id":"ENSG00000129932"}}},"hgnc_date_symbol_changed":"2006-05-22"},"entity_type":"gene","entity_name":"DOHH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35858628"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4087","gene_name":"gamma-aminobutyric acid type A receptor gamma2 subunit","omim_gene":["137164"],"alias_name":["GABA(A) receptor, gamma 2"],"gene_symbol":"GABRG2","hgnc_symbol":"GABRG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:161494546-161582542","ensembl_id":"ENSG00000113327"}},"GRch38":{"90":{"location":"5:162000057-162162977","ensembl_id":"ENSG00000113327"}}},"hgnc_date_symbol_changed":"1991-02-26"},"entity_type":"gene","entity_name":"GABRG2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11326274","11326275","27864268"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Epileptic encephalopathy, early infantile, 74 618396","Epilepsy, generalized, with febrile seizures plus, type 3, 607681"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11600","gene_name":"T-box 22","omim_gene":["300307"],"alias_name":null,"gene_symbol":"TBX22","hgnc_symbol":"TBX22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:79270255-79287268","ensembl_id":"ENSG00000122145"}},"GRch38":{"90":{"location":"X:80014756-80031769","ensembl_id":"ENSG00000122145"}}},"hgnc_date_symbol_changed":"2000-05-05"},"entity_type":"gene","entity_name":"TBX22","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11559848","12374769","14729838","17868388","22784330","22784330"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Cleft palate with ankyloglossia, MIM# 303400","Abruzzo-Erickson syndrome, MIM# 302905"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp667B1218","2'-PDE"],"biotype":"protein_coding","hgnc_id":"HGNC:25386","gene_name":"phosphodiesterase 12","omim_gene":["616519"],"alias_name":["2'-phosphodiesterase"],"gene_symbol":"PDE12","hgnc_symbol":"PDE12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57542003-57552571","ensembl_id":"ENSG00000174840"}},"GRch38":{"90":{"location":"3:57556276-57566844","ensembl_id":"ENSG00000174840"}}},"hgnc_date_symbol_changed":"2008-02-27"},"entity_type":"gene","entity_name":"PDE12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39567835"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial disease MONDO:0044970, PDE12-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6325","gene_name":"kinesin family member 5C","omim_gene":["604593"],"alias_name":null,"gene_symbol":"KIF5C","hgnc_symbol":"KIF5C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:149632819-149883273","ensembl_id":"ENSG00000168280"}},"GRch38":{"90":{"location":"2:148875250-149026759","ensembl_id":"ENSG00000168280"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23603762","23033978","32562872"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282","Complex cortical dysplasia with other brain malformations 2, MONDO:0014116"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMG1","CMG-1","FLJ22621"],"biotype":"protein_coding","hgnc_id":"HGNC:21424","gene_name":"intraflagellar transport 74","omim_gene":["608040"],"alias_name":["capillary morphogenesis protein 1"],"gene_symbol":"IFT74","hgnc_symbol":"IFT74","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:26947037-27062928","ensembl_id":"ENSG00000096872"}},"GRch38":{"90":{"location":"9:26947039-27062930","ensembl_id":"ENSG00000096872"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT74","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27486776","32144365"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Bardet-Biedl syndrome 20, MIM# 617119"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3764,"hash_id":null,"name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.","status":"public","version":"1.32","version_created":"2026-04-20T20:39:13.285624+10:00","relevant_disorders":["Obesity","HP:0001513"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DBA","S19"],"biotype":"protein_coding","hgnc_id":"HGNC:10402","gene_name":"ribosomal protein S19","omim_gene":["603474"],"alias_name":["Diamond-Blackfan anemia"],"gene_symbol":"RPS19","hgnc_symbol":"RPS19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42363988-42376994","ensembl_id":"ENSG00000105372"}},"GRch38":{"90":{"location":"19:41859918-41872926","ensembl_id":"ENSG00000105372"}}},"hgnc_date_symbol_changed":"1998-07-22"},"entity_type":"gene","entity_name":"RPS19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 1, MIM# 105650","MONDO:0007110"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"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":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1857","Lmnt2"],"biotype":"protein_coding","hgnc_id":"HGNC:14288","gene_name":"netrin G2","omim_gene":null,"alias_name":["Netrin-G2"],"gene_symbol":"NTNG2","hgnc_symbol":"NTNG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135037334-135119921","ensembl_id":"ENSG00000196358"}},"GRch38":{"90":{"location":"9:132161676-132244534","ensembl_id":"ENSG00000196358"}}},"hgnc_date_symbol_changed":"2003-12-03"},"entity_type":"gene","entity_name":"NTNG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31692205","31668703"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DAGD","LGMD2F","CMD1L"],"biotype":"protein_coding","hgnc_id":"HGNC:10807","gene_name":"sarcoglycan delta","omim_gene":["601411"],"alias_name":null,"gene_symbol":"SGCD","hgnc_symbol":"SGCD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:155297354-156194799","ensembl_id":"ENSG00000170624"}},"GRch38":{"90":{"location":"5:155870344-156767788","ensembl_id":"ENSG00000170624"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"SGCD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8841194","19259135","20623375","10838250","10735275","9832045","30733730"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PEO","PEO1","TWINKLE","FLJ21832","TWINL"],"biotype":"protein_coding","hgnc_id":"HGNC:1160","gene_name":"twinkle mtDNA helicase","omim_gene":["606075"],"alias_name":["T7 helicase-related protein with intramitochondrial nucleoid localization"],"gene_symbol":"TWNK","hgnc_symbol":"TWNK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102747124-102754158","ensembl_id":"ENSG00000107815"}},"GRch38":{"90":{"location":"10:100987367-100994401","ensembl_id":"ENSG00000107815"}}},"hgnc_date_symbol_changed":"2016-10-11"},"entity_type":"gene","entity_name":"TWNK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31852434","35035228"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245","Perrault syndrome 5, MIM#616138"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DXS707","TE2"],"biotype":"protein_coding","hgnc_id":"HGNC:18704","gene_name":"N(alpha)-acetyltransferase 10, NatA catalytic subunit","omim_gene":["300013"],"alias_name":null,"gene_symbol":"NAA10","hgnc_symbol":"NAA10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153194695-153200676","ensembl_id":"ENSG00000102030"}},"GRch38":{"90":{"location":"X:153929242-153935223","ensembl_id":"ENSG00000102030"}}},"hgnc_date_symbol_changed":"2010-01-14"},"entity_type":"gene","entity_name":"NAA10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["N-terminal acetyltransferase deficiency"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["HOGA"],"biotype":"protein_coding","hgnc_id":"HGNC:8091","gene_name":"ornithine aminotransferase","omim_gene":["613349"],"alias_name":["Ornithine aminotransferase","ornithine aminotransferase precursor","gyrate atrophy"],"gene_symbol":"OAT","hgnc_symbol":"OAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:126085872-126107545","ensembl_id":"ENSG00000065154"}},"GRch38":{"90":{"location":"10:124397303-124418976","ensembl_id":"ENSG00000065154"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870"],"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":[]},{"gene_data":{"alias":["ARGP1"],"biotype":"protein_coding","hgnc_id":"HGNC:2843","gene_name":"diacylglycerol O-acyltransferase 1","omim_gene":["604900"],"alias_name":null,"gene_symbol":"DGAT1","hgnc_symbol":"DGAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145539954-145550573","ensembl_id":"ENSG00000185000"}},"GRch38":{"90":{"location":"8:144314584-144326910","ensembl_id":"ENSG00000185000"}}},"hgnc_date_symbol_changed":"2001-11-09"},"entity_type":"gene","entity_name":"DGAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Diarrhea 7, protein-losing enteropathy type , MIM#\t615863"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","gastrointestinal"],"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":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Cystinosis, nephropathic MIM#219800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","renal"],"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":["DAX1","AHCH"],"biotype":"protein_coding","hgnc_id":"HGNC:7960","gene_name":"nuclear receptor subfamily 0 group B member 1","omim_gene":["300473"],"alias_name":null,"gene_symbol":"NR0B1","hgnc_symbol":"NR0B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:30322323-30327715","ensembl_id":"ENSG00000169297"}},"GRch38":{"90":{"location":"X:30304206-30309598","ensembl_id":"ENSG00000169297"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NR0B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Adrenal hypoplasia, congenital (MIM# 300200)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ERR2","ERRbeta","NR3B2","ERRb"],"biotype":"protein_coding","hgnc_id":"HGNC:3473","gene_name":"estrogen related receptor beta","omim_gene":["602167"],"alias_name":null,"gene_symbol":"ESRRB","hgnc_symbol":"ESRRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:76776957-76968178","ensembl_id":"ENSG00000119715"}},"GRch38":{"90":{"location":"14:76310614-76501841","ensembl_id":"ENSG00000119715"}}},"hgnc_date_symbol_changed":"1997-04-25"},"entity_type":"gene","entity_name":"ESRRB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 35, MIM#608565"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ37472","DHDPS2","NPL2"],"biotype":"protein_coding","hgnc_id":"HGNC:25155","gene_name":"4-hydroxy-2-oxoglutarate aldolase 1","omim_gene":["613597"],"alias_name":["dihydrodipicolinate synthetase homolog 2 (E. coli)","N-acetylneuraminate pyruvate lyase 2 (putative)"],"gene_symbol":"HOGA1","hgnc_symbol":"HOGA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:99344080-99372559","ensembl_id":"ENSG00000241935"}},"GRch38":{"90":{"location":"10:97584323-97612802","ensembl_id":"ENSG00000241935"}}},"hgnc_date_symbol_changed":"2010-12-19"},"entity_type":"gene","entity_name":"HOGA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21896830","20797690","22391140"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Expert Review Green","KidGen_MetabolicRenal v38.1.0"],"phenotypes":["Hyperoxaluria, primary, type III MIM#613616"],"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":["tuberin","LAM","PPP1R160"],"biotype":"protein_coding","hgnc_id":"HGNC:12363","gene_name":"TSC complex subunit 2","omim_gene":["191092"],"alias_name":["protein phosphatase 1, regulatory subunit 160"],"gene_symbol":"TSC2","hgnc_symbol":"TSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2097466-2138716","ensembl_id":"ENSG00000103197"}},"GRch38":{"90":{"location":"16:2047465-2088720","ensembl_id":"ENSG00000103197"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"TSC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Tuberous sclerosis-2, MIM# 613254"],"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":["HCF-1","HCF1","CFF","VCAF","MGC70925","PPP1R89"],"biotype":"protein_coding","hgnc_id":"HGNC:4839","gene_name":"host cell factor C1","omim_gene":["300019"],"alias_name":["VP16-accessory protein","protein phosphatase 1, regulatory subunit 89"],"gene_symbol":"HCFC1","hgnc_symbol":"HCFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153213004-153237258","ensembl_id":"ENSG00000172534"}},"GRch38":{"90":{"location":"X:153947553-153971807","ensembl_id":"ENSG00000172534"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"HCFC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34164576"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434P0316"],"biotype":"protein_coding","hgnc_id":"HGNC:25326","gene_name":"glutamine rich 2","omim_gene":null,"alias_name":null,"gene_symbol":"QRICH2","hgnc_symbol":"QRICH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:74270130-74303761","ensembl_id":"ENSG00000129646"}},"GRch38":{"90":{"location":"17:76274049-76307998","ensembl_id":"ENSG00000129646"}}},"hgnc_date_symbol_changed":"2005-12-21"},"entity_type":"gene","entity_name":"QRICH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30683861","31292949"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["spermatogenic failure MONDO:0004983"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.149","version_created":"2026-04-26T14:05:44.766760+10:00","relevant_disorders":[],"stats":{"number_of_genes":266,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]}]}