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It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.77","version_created":"2026-04-23T20:31:13.525757+10:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"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":["FLJ36928","NPHP16"],"biotype":"protein_coding","hgnc_id":"HGNC:26724","gene_name":"ankyrin repeat and sterile alpha motif domain containing 6","omim_gene":["615370"],"alias_name":null,"gene_symbol":"ANKS6","hgnc_symbol":"ANKS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:101493611-101559247","ensembl_id":"ENSG00000165138"}},"GRch38":{"90":{"location":"9:98731329-98796965","ensembl_id":"ENSG00000165138"}}},"hgnc_date_symbol_changed":"2006-02-17"},"entity_type":"gene","entity_name":"ANKS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23793029","31678577","31635528","26039630","24610927"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nephronophthisis 16, MIM# 615382","MONDO:0014158"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OCI-5","SGBS","SGBS1","SGB","DGSX"],"biotype":"protein_coding","hgnc_id":"HGNC:4451","gene_name":"glypican 3","omim_gene":["300037"],"alias_name":["glypican proteoglycan 3"],"gene_symbol":"GPC3","hgnc_symbol":"GPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:132669773-133119922","ensembl_id":"ENSG00000147257"}},"GRch38":{"90":{"location":"X:133535745-133985895","ensembl_id":"ENSG00000147257"}}},"hgnc_date_symbol_changed":"1996-08-08"},"entity_type":"gene","entity_name":"GPC3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["24115482","28796105","19372699"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Simpson-Golabi-Behmel syndrome, type 1 MIM#312870"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. 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Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SIGMA1B"],"biotype":"protein_coding","hgnc_id":"HGNC:560","gene_name":"adaptor related protein complex 1 sigma 2 subunit","omim_gene":["300629"],"alias_name":null,"gene_symbol":"AP1S2","hgnc_symbol":"AP1S2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:15843929-15873054","ensembl_id":"ENSG00000182287"}},"GRch38":{"90":{"location":"X:15825806-15854931","ensembl_id":"ENSG00000182287"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1S2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DC47","MRP-S36"],"biotype":"protein_coding","hgnc_id":"HGNC:16631","gene_name":"mitochondrial ribosomal protein S36","omim_gene":["611996"],"alias_name":null,"gene_symbol":"MRPS36","hgnc_symbol":"MRPS36","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:68513587-68525956","ensembl_id":"ENSG00000134056"}},"GRch38":{"90":{"location":"5:69217760-69230129","ensembl_id":"ENSG00000134056"}}},"hgnc_date_symbol_changed":"2001-09-20"},"entity_type":"gene","entity_name":"MRPS36","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 41018056","38685873"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TBX3-ISO","XHL"],"biotype":"protein_coding","hgnc_id":"HGNC:11602","gene_name":"T-box 3","omim_gene":["601621"],"alias_name":null,"gene_symbol":"TBX3","hgnc_symbol":"TBX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:115108059-115121969","ensembl_id":"ENSG00000135111"}},"GRch38":{"90":{"location":"12:114670254-114684164","ensembl_id":"ENSG00000135111"}}},"hgnc_date_symbol_changed":"1997-06-18"},"entity_type":"gene","entity_name":"TBX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9207801","19938096","28145909"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ulnar-mammary syndrome, MIM# 181450","MONDO:0008411"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P-gp","CD243","GP170","ABC20"],"biotype":"protein_coding","hgnc_id":"HGNC:40","gene_name":"ATP binding cassette subfamily B member 1","omim_gene":["171050"],"alias_name":["multidrug resistance protein 1"],"gene_symbol":"ABCB1","hgnc_symbol":"ABCB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:87133175-87342611","ensembl_id":"ENSG00000085563"}},"GRch38":{"90":{"location":"7:87503633-87713323","ensembl_id":"ENSG00000085563"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["14610718"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Inflammatory bowel disease 13} 612244"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSA272268"],"biotype":"protein_coding","hgnc_id":"HGNC:15460","gene_name":"calcium voltage-gated channel auxiliary subunit alpha2delta 3","omim_gene":["606399"],"alias_name":null,"gene_symbol":"CACNA2D3","hgnc_symbol":"CACNA2D3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:54156574-55108584","ensembl_id":"ENSG00000157445"}},"GRch38":{"90":{"location":"3:54122547-55074557","ensembl_id":"ENSG00000157445"}}},"hgnc_date_symbol_changed":"2001-07-03"},"entity_type":"gene","entity_name":"CACNA2D3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31275518","22542183","23375656"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14736","JPO1"],"biotype":"protein_coding","hgnc_id":"HGNC:14628","gene_name":"cell division cycle associated 7","omim_gene":["609937"],"alias_name":null,"gene_symbol":"CDCA7","hgnc_symbol":"CDCA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:174219548-174233725","ensembl_id":"ENSG00000144354"}},"GRch38":{"90":{"location":"2:173354820-173368997","ensembl_id":"ENSG00000144354"}}},"hgnc_date_symbol_changed":"2002-04-03"},"entity_type":"gene","entity_name":"CDCA7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26216346"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910","MONDO:0014828"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ32000"],"biotype":"protein_coding","hgnc_id":"HGNC:26485","gene_name":"cilia and flagella associated protein 57","omim_gene":["614259"],"alias_name":null,"gene_symbol":"CFAP57","hgnc_symbol":"CFAP57","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43637820-43720029","ensembl_id":"ENSG00000243710"}},"GRch38":{"90":{"location":"1:43172149-43254358","ensembl_id":"ENSG00000243710"}}},"hgnc_date_symbol_changed":"2014-08-12"},"entity_type":"gene","entity_name":"CFAP57","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21574244","32764743","36752199"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spermatogenic failure 95, MIM# 620917","Van der Woude Syndrome","Primary ciliary dyskinesia"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DEP1","HPTPeta","CD148"],"biotype":"protein_coding","hgnc_id":"HGNC:9673","gene_name":"protein tyrosine phosphatase, receptor type J","omim_gene":["600925"],"alias_name":null,"gene_symbol":"PTPRJ","hgnc_symbol":"PTPRJ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:48002113-48189670","ensembl_id":"ENSG00000149177"}},"GRch38":{"90":{"location":"11:47980558-48170841","ensembl_id":"ENSG00000149177"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"PTPRJ","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30591527"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Thrombocytopenia 10, MIM# 620484"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PKACg"],"biotype":"protein_coding","hgnc_id":"HGNC:9382","gene_name":"protein kinase cAMP-activated catalytic subunit gamma","omim_gene":["176893"],"alias_name":null,"gene_symbol":"PRKACG","hgnc_symbol":"PRKACG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:71627469-71629039","ensembl_id":"ENSG00000165059"}},"GRch38":{"90":{"location":"9:69012529-69014113","ensembl_id":"ENSG00000165059"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PRKACG","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["25061177","30819905"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Bleeding disorder, platelet-type, 19, MIM# 616176"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SMAP-5","FinGER5"],"biotype":"protein_coding","hgnc_id":"HGNC:24877","gene_name":"Yip1 domain family member 5","omim_gene":["611483"],"alias_name":null,"gene_symbol":"YIPF5","hgnc_symbol":"YIPF5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:143537723-143550278","ensembl_id":"ENSG00000145817"}},"GRch38":{"90":{"location":"5:144158159-144170714","ensembl_id":"ENSG00000145817"}}},"hgnc_date_symbol_changed":"2005-07-04"},"entity_type":"gene","entity_name":"YIPF5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33164986"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RecQ1","RecQL1"],"biotype":"protein_coding","hgnc_id":"HGNC:9948","gene_name":"RecQ like helicase","omim_gene":["600537"],"alias_name":["DNA helicase Q1-like"],"gene_symbol":"RECQL","hgnc_symbol":"RECQL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21621845-21654603","ensembl_id":"ENSG00000004700"}},"GRch38":{"90":{"location":"12:21468911-21501669","ensembl_id":"ENSG00000004700"}}},"hgnc_date_symbol_changed":"2014-03-07"},"entity_type":"gene","entity_name":"RECQL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35025765"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["RECON progeroid syndrome MONDO:0957266"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":156,"hash_id":null,"name":"Photosensitivity Syndromes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with photosensitivity, in particular DNA repair disorders and porphyrias.","status":"public","version":"1.11","version_created":"2025-12-08T10:32:19.181318+11:00","relevant_disorders":["Cutaneous photosensitivity","HP:0000992"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HsRad51","HsT16930","BRCC5","FANCR"],"biotype":"protein_coding","hgnc_id":"HGNC:9817","gene_name":"RAD51 recombinase","omim_gene":["179617"],"alias_name":["BRCA1/BRCA2-containing complex, subunit 5"],"gene_symbol":"RAD51","hgnc_symbol":"RAD51","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40986972-41024354","ensembl_id":"ENSG00000051180"}},"GRch38":{"90":{"location":"15:40694774-40732339","ensembl_id":"ENSG00000051180"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"gene","entity_name":"RAD51","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26253028","26681308","30907510"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Fanconi anaemia, complementation group R, MIM# 617244"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.22","version_created":"2026-04-22T15:49:55.738465+10:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"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"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SAP49","SF3b49","Hsh49"],"biotype":"protein_coding","hgnc_id":"HGNC:10771","gene_name":"splicing factor 3b subunit 4","omim_gene":["605593"],"alias_name":null,"gene_symbol":"SF3B4","hgnc_symbol":"SF3B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:149895209-149900236","ensembl_id":"ENSG00000143368"}},"GRch38":{"90":{"location":"1:149923317-149928344","ensembl_id":"ENSG00000143368"}}},"hgnc_date_symbol_changed":"2000-02-29"},"entity_type":"gene","entity_name":"SF3B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22541558"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Acrofacial dysostosis 1, Nager type, MIM#\t154400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.22","version_created":"2026-04-22T15:49:55.738465+10:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"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"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ10147","HIPPI","MHS4R2"],"biotype":"protein_coding","hgnc_id":"HGNC:17367","gene_name":"intraflagellar transport 57","omim_gene":["606621"],"alias_name":null,"gene_symbol":"IFT57","hgnc_symbol":"IFT57","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:107879659-107941417","ensembl_id":"ENSG00000114446"}},"GRch38":{"90":{"location":"3:108160812-108222570","ensembl_id":"ENSG00000114446"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT57","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Orofaciodigital syndrome XVIII, MIM#617927"],"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":["KIAA1385"],"biotype":"protein_coding","hgnc_id":"HGNC:15465","gene_name":"gephyrin","omim_gene":["603930"],"alias_name":null,"gene_symbol":"GPHN","hgnc_symbol":"GPHN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:66974125-67648520","ensembl_id":"ENSG00000171723"}},"GRch38":{"90":{"location":"14:66507407-67181803","ensembl_id":"ENSG00000171723"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"GPHN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22040219","11095995","26613940","24561070","23393157","34617111"],"evidence":["NHS GMS","Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Molybdenum cofactor deficiency C, MIM# 615501","Epilepsy","Autism","Intellectual disability"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.410","version_created":"2026-04-24T13:36:55.078812+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THTR2"],"biotype":"protein_coding","hgnc_id":"HGNC:16266","gene_name":"solute carrier family 19 member 3","omim_gene":["606152"],"alias_name":["thiamine transporter 2"],"gene_symbol":"SLC19A3","hgnc_symbol":"SLC19A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:228549926-228582728","ensembl_id":"ENSG00000135917"}},"GRch38":{"90":{"location":"2:227685210-227718012","ensembl_id":"ENSG00000135917"}}},"hgnc_date_symbol_changed":"2001-07-19"},"entity_type":"gene","entity_name":"SLC19A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15871139","20065143","23482991","24878502","23589815","24166474","26975589","27896110"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["QCR2","UQCR2"],"biotype":"protein_coding","hgnc_id":"HGNC:12586","gene_name":"ubiquinol-cytochrome c reductase core protein 2","omim_gene":["191329"],"alias_name":null,"gene_symbol":"UQCRC2","hgnc_symbol":"UQCRC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:21963981-21994981","ensembl_id":"ENSG00000140740"}},"GRch38":{"90":{"location":"16:21952660-21983660","ensembl_id":"ENSG00000140740"}}},"hgnc_date_symbol_changed":"1993-07-09"},"entity_type":"gene","entity_name":"UQCRC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28275242","23281071","33865955"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2279","gene_name":"cytochrome c oxidase subunit 6A2","omim_gene":["602009"],"alias_name":null,"gene_symbol":"COX6A2","hgnc_symbol":"COX6A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31439052-31439967","ensembl_id":"ENSG00000156885"}},"GRch38":{"90":{"location":"16:31427731-31428428","ensembl_id":"ENSG00000156885"}}},"hgnc_date_symbol_changed":"1994-01-15"},"entity_type":"gene","entity_name":"COX6A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31155743","23460811"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZP434G145"],"biotype":"protein_coding","hgnc_id":"HGNC:18654","gene_name":"rotatin","omim_gene":["610436"],"alias_name":null,"gene_symbol":"RTTN","hgnc_symbol":"RTTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:67671029-67873181","ensembl_id":"ENSG00000176225"}},"GRch38":{"90":{"location":"18:70003031-70205945","ensembl_id":"ENSG00000176225"}}},"hgnc_date_symbol_changed":"2002-07-11"},"entity_type":"gene","entity_name":"RTTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by 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additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12404","gene_name":"alpha tocopherol transfer protein","omim_gene":["600415"],"alias_name":null,"gene_symbol":"TTPA","hgnc_symbol":"TTPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:63961112-63998612","ensembl_id":"ENSG00000137561"}},"GRch38":{"90":{"location":"8:63048553-63086053","ensembl_id":"ENSG00000137561"}}},"hgnc_date_symbol_changed":"1993-07-06"},"entity_type":"gene","entity_name":"TTPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301419","25614784","20464573","16491382"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Ataxia with isolated vitamin E deficiency MIM#277460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","neurological"],"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":["Cav2.1","EA2","APCA","HPCA","FHM"],"biotype":"protein_coding","hgnc_id":"HGNC:1388","gene_name":"calcium voltage-gated channel subunit alpha1 A","omim_gene":["601011"],"alias_name":null,"gene_symbol":"CACNA1A","hgnc_symbol":"CACNA1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13317256-13734804","ensembl_id":"ENSG00000141837"}},"GRch38":{"90":{"location":"19:13206442-13633025","ensembl_id":"ENSG00000141837"}}},"hgnc_date_symbol_changed":"1996-06-18"},"entity_type":"gene","entity_name":"CACNA1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Episodic ataxia, type 2, MIM# 108500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; 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PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7010","gene_name":"menin 1","omim_gene":["613733"],"alias_name":["menin"],"gene_symbol":"MEN1","hgnc_symbol":"MEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64570982-64578766","ensembl_id":"ENSG00000133895"}},"GRch38":{"90":{"location":"11:64803510-64811294","ensembl_id":"ENSG00000133895"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MEN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Tumor of parathyroid gland, MONDO:0021360","Multiple endocrine neoplasia type 1, MONDO:0007540","Multiple endocrine neoplasia, type 1, MIM#131100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4363,"hash_id":null,"name":"Parathyroid Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with parathyroid tumour. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with parathyroid tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.2","version_created":"2024-11-01T16:33:54.194345+11:00","relevant_disorders":[],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HNPCC","HNPCC1"],"biotype":"protein_coding","hgnc_id":"HGNC:7325","gene_name":"mutS homolog 2","omim_gene":["609309"],"alias_name":null,"gene_symbol":"MSH2","hgnc_symbol":"MSH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47630108-47789450","ensembl_id":"ENSG00000095002"}},"GRch38":{"90":{"location":"2:47402969-47562311","ensembl_id":"ENSG00000095002"}}},"hgnc_date_symbol_changed":"1993-07-28"},"entity_type":"gene","entity_name":"MSH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Prostate cancer, MONDO:0008315","Lynch syndrome 1, MONDO:0007356","Mismatch repair cancer syndrome 2, MONDO:0030840","Lynch syndrome 1, MIM#120435","Mismatch repair cancer syndrome 2, MIM#619096"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4372,"hash_id":null,"name":"Prostate Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:34:57.086516+11:00","relevant_disorders":[],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["dJ726C3.1","TSARG4"],"biotype":"protein_coding","hgnc_id":"HGNC:16252","gene_name":"Sad1 and UNC84 domain containing 5","omim_gene":["613942"],"alias_name":["testis and spermatogenesis related gene 4"],"gene_symbol":"SUN5","hgnc_symbol":"SUN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:31571579-31592239","ensembl_id":"ENSG00000167098"}},"GRch38":{"90":{"location":"20:32983773-33004433","ensembl_id":"ENSG00000167098"}}},"hgnc_date_symbol_changed":"2010-01-27"},"entity_type":"gene","entity_name":"SUN5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34159570","33671757","27640305"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Spermatogenic failure, MONDO:0004983, SUN5-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.148","version_created":"2026-04-21T17:36:51.081048+10:00","relevant_disorders":[],"stats":{"number_of_genes":266,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ22637"],"biotype":"protein_coding","hgnc_id":"HGNC:23113","gene_name":"elongation factor for RNA polymerase II 3","omim_gene":["609885"],"alias_name":null,"gene_symbol":"ELL3","hgnc_symbol":"ELL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:44064798-44069741","ensembl_id":"ENSG00000128886"}},"GRch38":{"90":{"location":"15:43772600-43777543","ensembl_id":"ENSG00000128886"}}},"hgnc_date_symbol_changed":"2003-09-17"},"entity_type":"gene","entity_name":"ELL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39820605"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pregnancy loss, recurrent, susceptibility to, MONDO:0000144, ELL3-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.148","version_created":"2026-04-21T17:36:51.081048+10:00","relevant_disorders":[],"stats":{"number_of_genes":266,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SEMA1","SemD","coll-1","Hsema-I"],"biotype":"protein_coding","hgnc_id":"HGNC:10723","gene_name":"semaphorin 3A","omim_gene":["603961"],"alias_name":["sema III"],"gene_symbol":"SEMA3A","hgnc_symbol":"SEMA3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:83585093-84122040","ensembl_id":"ENSG00000075213"}},"GRch38":{"90":{"location":"7:83955777-84492724","ensembl_id":"ENSG00000075213"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"SEMA3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28075028","33369061","20301509","21059704","24124006","22927827"],"evidence":["Expert Review","Expert Review Green","Expert Review Green","Expert Review"],"phenotypes":["Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.137","version_created":"2026-04-23T15:40:19.442039+10:00","relevant_disorders":[],"stats":{"number_of_genes":93,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["B27","FALP"],"biotype":"protein_coding","hgnc_id":"HGNC:1304","gene_name":"melanocortin 2 receptor accessory protein","omim_gene":["609196"],"alias_name":null,"gene_symbol":"MRAP","hgnc_symbol":"MRAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:33664124-33687095","ensembl_id":"ENSG00000170262"}},"GRch38":{"90":{"location":"21:32291813-32314784","ensembl_id":"ENSG00000170262"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"MRAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15654338"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Glucocorticoid deficiency 2, MIM# 607398"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}