{"count":36124,"next":null,"previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=361","results":[{"gene_data":{"alias":["DYT5b"],"biotype":"protein_coding","hgnc_id":"HGNC:11782","gene_name":"tyrosine hydroxylase","omim_gene":["191290"],"alias_name":["tyrosine 3-monooxygenase"],"gene_symbol":"TH","hgnc_symbol":"TH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2185159-2193107","ensembl_id":"ENSG00000180176"}},"GRch38":{"90":{"location":"11:2163929-2171877","ensembl_id":"ENSG00000180176"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Segawa syndrome, recessive MIM#605407"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.58","version_created":"2026-03-31T16:43:37.497568+11:00","relevant_disorders":["Cognitive impairment","HP:0100543"],"stats":{"number_of_genes":96,"number_of_strs":6,"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":"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":["KIAA0079"],"biotype":"protein_coding","hgnc_id":"HGNC:10705","gene_name":"SEC24 homolog C, COPII coat complex component","omim_gene":["607185"],"alias_name":null,"gene_symbol":"SEC24C","hgnc_symbol":"SEC24C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:75504120-75531919","ensembl_id":"ENSG00000176986"}},"GRch38":{"90":{"location":"10:73744384-73772161","ensembl_id":"ENSG00000176986"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"SEC24C","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40131364"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SEC24C-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic 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":[]},{"gene_data":{"alias":["IGDCC1","NTN1R1"],"biotype":"protein_coding","hgnc_id":"HGNC:2701","gene_name":"DCC netrin 1 receptor","omim_gene":["120470"],"alias_name":["immunoglobulin superfamily, DCC subclass, member 1"],"gene_symbol":"DCC","hgnc_symbol":"DCC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:49866542-51057784","ensembl_id":"ENSG00000187323"}},"GRch38":{"90":{"location":"18:52340172-53535903","ensembl_id":"ENSG00000187323"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"DCC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Mirror movements 1 and/or agenesis of the corpus callosum, MIM#157600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.412","version_created":"2026-04-29T13:55:13.542887+10:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSA243396"],"biotype":"protein_coding","hgnc_id":"HGNC:20665","gene_name":"sodium voltage-gated channel beta subunit 3","omim_gene":["608214"],"alias_name":null,"gene_symbol":"SCN3B","hgnc_symbol":"SCN3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:123499895-123525952","ensembl_id":"ENSG00000166257"}},"GRch38":{"90":{"location":"11:123629187-123655244","ensembl_id":"ENSG00000166257"}}},"hgnc_date_symbol_changed":"2003-03-14"},"entity_type":"gene","entity_name":"SCN3B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics 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":["LUCA1","HYAL-1","FUS2","NAT6"],"biotype":"protein_coding","hgnc_id":"HGNC:5320","gene_name":"hyaluronoglucosaminidase 1","omim_gene":["607071"],"alias_name":null,"gene_symbol":"HYAL1","hgnc_symbol":"HYAL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50337320-50349812","ensembl_id":"ENSG00000114378"}},"GRch38":{"90":{"location":"3:50299889-50312381","ensembl_id":"ENSG00000114378"}}},"hgnc_date_symbol_changed":"1997-10-09"},"entity_type":"gene","entity_name":"HYAL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["10339581","18344557","21559944"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Mucopolysaccharidosis type IX, MIM# 601492","MONDO:0011093"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9459","gene_name":"prospero homeobox 1","omim_gene":["601546"],"alias_name":null,"gene_symbol":"PROX1","hgnc_symbol":"PROX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:214156524-214214595","ensembl_id":"ENSG00000117707"}},"GRch38":{"90":{"location":"1:213983181-214041502","ensembl_id":"ENSG00000117707"}}},"hgnc_date_symbol_changed":"1998-05-18"},"entity_type":"gene","entity_name":"PROX1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["ClinGen","Expert Review Red","Expert Review Red","ClinGen"],"phenotypes":["Congenital heart disease, MONDO:0005453"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:108","gene_name":"acetylcholinesterase (Cartwright blood group)","omim_gene":["100740"],"alias_name":["Yt blood group"],"gene_symbol":"ACHE","hgnc_symbol":"ACHE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100487615-100494594","ensembl_id":"ENSG00000087085"}},"GRch38":{"90":{"location":"7:100889994-100896974","ensembl_id":"ENSG00000087085"}}},"hgnc_date_symbol_changed":"1989-06-02"},"entity_type":"gene","entity_name":"ACHE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 12783426","8488842"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["[Blood group, Yt system] MIM#112100"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["GP39","YKL40"],"biotype":"protein_coding","hgnc_id":"HGNC:1932","gene_name":"chitinase 3 like 1","omim_gene":["601525"],"alias_name":["cartilage glycoprotein-39"],"gene_symbol":"CHI3L1","hgnc_symbol":"CHI3L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:203148059-203155877","ensembl_id":"ENSG00000133048"}},"GRch38":{"90":{"location":"1:203178931-203186749","ensembl_id":"ENSG00000133048"}}},"hgnc_date_symbol_changed":"1994-12-20"},"entity_type":"gene","entity_name":"CHI3L1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Asthma-related traits, susceptibility to, 7} 611960","{Schizophrenia, susceptibility to} 181500"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["P450IIC19","CPCJ"],"biotype":"protein_coding","hgnc_id":"HGNC:2621","gene_name":"cytochrome P450 family 2 subfamily C member 19","omim_gene":["124020"],"alias_name":null,"gene_symbol":"CYP2C19","hgnc_symbol":"CYP2C19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:96447911-96613017","ensembl_id":"ENSG00000165841"}},"GRch38":{"90":{"location":"10:94762624-94853260","ensembl_id":"ENSG00000165841"}}},"hgnc_date_symbol_changed":"1992-04-06"},"entity_type":"gene","entity_name":"CYP2C19","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27981572","26616742","31549386","31549389"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Voriconazole"],"mode_of_inheritance":"Other","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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["CD32","CD32B"],"biotype":"protein_coding","hgnc_id":"HGNC:3618","gene_name":"Fc fragment of IgG receptor IIb","omim_gene":["604590"],"alias_name":["Fc gamma receptor IIb"],"gene_symbol":"FCGR2B","hgnc_symbol":"FCGR2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161551101-161648444","ensembl_id":"ENSG00000072694"}},"GRch38":{"90":{"location":"1:161663147-161678654","ensembl_id":"ENSG00000072694"}}},"hgnc_date_symbol_changed":"1991-08-21"},"entity_type":"gene","entity_name":"FCGR2B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12115230","15153543","20385827"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Systemic lupus erythematosus, susceptibility to} MIM#152700"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["FLJ14624","FLJ22153"],"biotype":"protein_coding","hgnc_id":"HGNC:25904","gene_name":"transmembrane and tetratricopeptide repeat containing 4","omim_gene":null,"alias_name":null,"gene_symbol":"TMTC4","hgnc_symbol":"TMTC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:101256181-101327347","ensembl_id":"ENSG00000125247"}},"GRch38":{"90":{"location":"13:100603927-100675093","ensembl_id":"ENSG00000125247"}}},"hgnc_date_symbol_changed":"2006-01-06"},"entity_type":"gene","entity_name":"TMTC4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["37943620"],"evidence":["Literature"],"phenotypes":["hearing loss, autosomal recessive MONDO:0019588"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["MD-2"],"biotype":"protein_coding","hgnc_id":"HGNC:17156","gene_name":"lymphocyte antigen 96","omim_gene":["605243"],"alias_name":null,"gene_symbol":"LY96","hgnc_symbol":"LY96","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:74903587-74941322","ensembl_id":"ENSG00000154589"}},"GRch38":{"90":{"location":"8:73991352-74029087","ensembl_id":"ENSG00000154589"}}},"hgnc_date_symbol_changed":"2003-02-19"},"entity_type":"gene","entity_name":"LY96","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36462957"],"evidence":["Expert Review Red","Expert Review","Literature"],"phenotypes":["Inborn error of immunity, MONDO:0003778, LY96-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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["KIAA1569","FLJ10352","PPP1R62"],"biotype":"protein_coding","hgnc_id":"HGNC:25515","gene_name":"centrosomal protein 192","omim_gene":["616426"],"alias_name":["protein phosphatase 1, regulatory subunit 62"],"gene_symbol":"CEP192","hgnc_symbol":"CEP192","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:12991361-13125051","ensembl_id":"ENSG00000101639"}},"GRch38":{"90":{"location":"18:12991362-13125052","ensembl_id":"ENSG00000101639"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"CEP192","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["37981762"],"evidence":["Expert Review Red","Literature"],"phenotypes":["microcephaly, short stature, limb-extremity dysplasia, and reduced testicular size"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["KIAA1981"],"biotype":"protein_coding","hgnc_id":"HGNC:29424","gene_name":"ankyrin repeat domain 24","omim_gene":null,"alias_name":null,"gene_symbol":"ANKRD24","hgnc_symbol":"ANKRD24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:4183351-4224811","ensembl_id":"ENSG00000089847"}},"GRch38":{"90":{"location":"19:4183354-4224814","ensembl_id":"ENSG00000089847"}}},"hgnc_date_symbol_changed":"2004-02-02"},"entity_type":"gene","entity_name":"ANKRD24","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39434538"],"evidence":["Expert Review Red","Literature"],"phenotypes":["sensorineural hearing loss disorder MONDO:0020678, ANKRD24-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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"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":["SCA36"],"biotype":"protein_coding","hgnc_id":"HGNC:15911","gene_name":"NOP56 ribonucleoprotein","omim_gene":["614154"],"alias_name":["spinocerebellar ataxia 36"],"gene_symbol":"NOP56","hgnc_symbol":"NOP56","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:2632791-2639039","ensembl_id":"ENSG00000101361"}},"GRch38":{"90":{"location":"20:2652145-2658393","ensembl_id":"ENSG00000101361"}}},"hgnc_date_symbol_changed":"2009-01-13"},"entity_type":"gene","entity_name":"NOP56","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Victorian Clinical Genetics Services"],"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:11768","gene_name":"transforming growth factor beta 2","omim_gene":["190220"],"alias_name":["prepro-transforming growth factor beta-2"],"gene_symbol":"TGFB2","hgnc_symbol":"TGFB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:218519577-218617961","ensembl_id":"ENSG00000092969"}},"GRch38":{"90":{"location":"1:218346235-218444619","ensembl_id":"ENSG00000092969"}}},"hgnc_date_symbol_changed":"1989-05-10"},"entity_type":"gene","entity_name":"TGFB2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29392890"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Loeys-Dietz syndrome 4, 614816"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.318","version_created":"2026-04-27T11:53:17.890231+10:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["l1Rk3","l(1)-3Rk","Slac-2a","ln","exophilin-3"],"biotype":"protein_coding","hgnc_id":"HGNC:29643","gene_name":"melanophilin","omim_gene":["606526"],"alias_name":null,"gene_symbol":"MLPH","hgnc_symbol":"MLPH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:238394071-238463961","ensembl_id":"ENSG00000115648"}},"GRch38":{"90":{"location":"2:237485428-237555318","ensembl_id":"ENSG00000115648"}}},"hgnc_date_symbol_changed":"2004-01-09"},"entity_type":"gene","entity_name":"MLPH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp","NHS Genomic Medicine Service"],"phenotypes":["Griscelli syndrome, type 3, MIM# 609227"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5382","gene_name":"isocitrate dehydrogenase (NADP(+)) 1, cytosolic","omim_gene":["147700"],"alias_name":null,"gene_symbol":"IDH1","hgnc_symbol":"IDH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:209100951-209130798","ensembl_id":"ENSG00000138413"}},"GRch38":{"90":{"location":"2:208236227-208266074","ensembl_id":"ENSG00000138413"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IDH1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22057234","22057236","22025298","24049096","34393643","34588213","34624834","34720940"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Ollier disease MONDO:0008145","Maffucci syndrome MONDO:0013808"],"mode_of_inheritance":"Other","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":"1.576","version_created":"2026-04-29T19:01:52.053429+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":["CDGIi","FLJ14511","hALPG2","NET38","CDG1I"],"biotype":"protein_coding","hgnc_id":"HGNC:23159","gene_name":"ALG2, alpha-1,3/1,6-mannosyltransferase","omim_gene":["607905"],"alias_name":null,"gene_symbol":"ALG2","hgnc_symbol":"ALG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:101978708-101984238","ensembl_id":"ENSG00000119523"}},"GRch38":{"90":{"location":"9:99216426-99221956","ensembl_id":"ENSG00000119523"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23404334","24461433","12684507"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228","Congenital disorder of glycosylation, type Ii, MIM# 607906"],"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":["AAT","A1A","PI1","alpha-1-antitrypsin","A1AT","alpha1AT"],"biotype":"protein_coding","hgnc_id":"HGNC:8941","gene_name":"serpin family A member 1","omim_gene":["107400"],"alias_name":["protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"],"gene_symbol":"SERPINA1","hgnc_symbol":"SERPINA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:94843084-94857030","ensembl_id":"ENSG00000197249"}},"GRch38":{"90":{"location":"14:94376747-94390693","ensembl_id":"ENSG00000197249"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SERPINA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:626","gene_name":"adenine phosphoribosyltransferase","omim_gene":["102600"],"alias_name":null,"gene_symbol":"APRT","hgnc_symbol":"APRT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88875747-88878352","ensembl_id":"ENSG00000198931"}},"GRch38":{"90":{"location":"16:88809339-88811944","ensembl_id":"ENSG00000198931"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"APRT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Adenine phosphoribosyltransferase deficiency, MIM#\t614723"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":["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":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36977548","38148006","29575618"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Lethal congenital contracture syndrome, MONDO:0017436"],"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":"1.156","version_created":"2026-04-30T15:46:29.604965+10:00","relevant_disorders":[],"stats":{"number_of_genes":269,"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":["TTF-1","TTF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11825","gene_name":"NK2 homeobox 1","omim_gene":["600635"],"alias_name":null,"gene_symbol":"NKX2-1","hgnc_symbol":"NKX2-1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:36985602-36990354","ensembl_id":"ENSG00000136352"}},"GRch38":{"90":{"location":"14:36516392-36521149","ensembl_id":"ENSG00000136352"}}},"hgnc_date_symbol_changed":"2007-07-26"},"entity_type":"gene","entity_name":"NKX2-1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["10931427","27066577","26839702","26103969","33270637","30186310"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Royal Melbourne Hospital"],"phenotypes":["NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":null},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37393-Gain","verbose_name":"Cat eye syndrome, 22q11.21 tetrasomy syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":null,"triplosensitivity_score":"3","required_overlap_percentage":80,"type_of_variants":"cnv_gain","publications":[],"evidence":["Expert Review Green","Expert Review","Expert Review"],"phenotypes":["Cat eye syndrome, MIM#\t115470","coloboma","anal atresia","heart and renal malformations"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"22","grch37_coordinates":null,"grch38_coordinates":[16912063,18109094],"tags":["SV/CNV"],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.318","version_created":"2026-04-27T11:53:17.890231+10:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}