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(paternal allele expressed)","tags":["SV/CNV"],"panel":{"id":161,"hash_id":null,"name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with pseudohypoparathyroidism, Albright Hereditary Osteodystrophy, and phenocopy disorders.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis' panel V1.5, with all discrepancies reviewed and resolved (August 2025).","status":"public","version":"0.33","version_created":"2025-08-26T20:19:58.071270+10:00","relevant_disorders":["Pseudohypoparathyroidism","HP:0000093"],"stats":{"number_of_genes":10,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by 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It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IPOA8"],"biotype":"protein_coding","hgnc_id":"HGNC:21839","gene_name":"karyopherin subunit alpha 7","omim_gene":["614107"],"alias_name":["importin alpha 8"],"gene_symbol":"KPNA7","hgnc_symbol":"KPNA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:98771197-98805129","ensembl_id":"ENSG00000185467"}},"GRch38":{"90":{"location":"7:99173574-99207506","ensembl_id":"ENSG00000185467"}}},"hgnc_date_symbol_changed":"2009-04-07"},"entity_type":"gene","entity_name":"KPNA7","confidence_level":"1","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["24045845","32179771"],"evidence":["Expert Review Red","Literature","Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), KPNA7-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["USP21"],"biotype":"protein_coding","hgnc_id":"HGNC:12624","gene_name":"ubiquitin specific peptidase 25","omim_gene":["604736"],"alias_name":null,"gene_symbol":"USP25","hgnc_symbol":"USP25","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:17102344-17252377","ensembl_id":"ENSG00000155313"}},"GRch38":{"90":{"location":"21:15730025-15880069","ensembl_id":"ENSG00000155313"}}},"hgnc_date_symbol_changed":"2000-02-10"},"entity_type":"gene","entity_name":"USP25","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["38875478"],"evidence":["Expert Review Red","Literature"],"phenotypes":["{Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"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. 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ10466"],"biotype":"protein_coding","hgnc_id":"HGNC:16406","gene_name":"EF-hand domain containing 1","omim_gene":["608815"],"alias_name":["myoclonin-1"],"gene_symbol":"EFHC1","hgnc_symbol":"EFHC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:52285106-52387892","ensembl_id":"ENSG00000096093"}},"GRch38":{"90":{"location":"6:52362123-52529886","ensembl_id":"ENSG00000096093"}}},"hgnc_date_symbol_changed":"2001-08-21"},"entity_type":"gene","entity_name":"EFHC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31056551","28370826","29750216","33969125","33181902"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["{Epilepsy, juvenile absence, susceptibility to, 1}, 607631","{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["refuted"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14751","DIE2","ALG10A"],"biotype":"protein_coding","hgnc_id":"HGNC:23162","gene_name":"ALG10, alpha-1,2-glucosyltransferase","omim_gene":["603313"],"alias_name":["derepression of ITR1 expression 2 homolog (S. cerevisiae)","dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"],"gene_symbol":"ALG10","hgnc_symbol":"ALG10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:34175216-34182629","ensembl_id":"ENSG00000139133"}},"GRch38":{"90":{"location":"12:34022281-34029694","ensembl_id":"ENSG00000139133"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["33798445"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Congenital disorder of glycosylation, MONDO:0015286, ALG10-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12335","gene_name":"transient receptor potential cation channel subfamily C member 3","omim_gene":["602345"],"alias_name":null,"gene_symbol":"TRPC3","hgnc_symbol":"TRPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:122800182-122872909","ensembl_id":"ENSG00000138741"}},"GRch38":{"90":{"location":"4:121879027-121951754","ensembl_id":"ENSG00000138741"}}},"hgnc_date_symbol_changed":"1995-09-01"},"entity_type":"gene","entity_name":"TRPC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["32135163","25477146"],"evidence":["Expert Review Red","Literature","Expert list","Expert Review Amber","Expert list"],"phenotypes":["?Spinocerebellar ataxia 41 - 616410"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"0.610","version_created":"2026-03-31T18:57:58.699788+11:00","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":["GS27","Bos1"],"biotype":"protein_coding","hgnc_id":"HGNC:4431","gene_name":"golgi SNAP receptor complex member 2","omim_gene":["604027"],"alias_name":null,"gene_symbol":"GOSR2","hgnc_symbol":"GOSR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:45000483-45105003","ensembl_id":"ENSG00000108433"}},"GRch38":{"90":{"location":"17:46923075-46975524","ensembl_id":"ENSG00000108433"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"GOSR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["37074134"],"evidence":["Expert Review Red","Expert Review","Expert Review"],"phenotypes":["hearing loss, autosomal recessive, MONDO:0019588, GOSR2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GASP2","FLJ37327"],"biotype":"protein_coding","hgnc_id":"HGNC:25169","gene_name":"G protein-coupled receptor associated sorting protein 2","omim_gene":["300969"],"alias_name":null,"gene_symbol":"GPRASP2","hgnc_symbol":"GPRASP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:101967104-101973607","ensembl_id":"ENSG00000158301"}},"GRch38":{"90":{"location":"X:102712176-102717733","ensembl_id":"ENSG00000158301"}}},"hgnc_date_symbol_changed":"2004-08-25"},"entity_type":"gene","entity_name":"GPRASP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28096187","41688572"],"evidence":["Literature","Expert Review Red","Expert Review Red","Literature"],"phenotypes":["X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0044702"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["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","Literature"],"phenotypes":["sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GHBP"],"biotype":"protein_coding","hgnc_id":"HGNC:4263","gene_name":"growth hormone receptor","omim_gene":["600946"],"alias_name":["growth hormone binding protein"],"gene_symbol":"GHR","hgnc_symbol":"GHR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:42423879-42721979","ensembl_id":"ENSG00000112964"}},"GRch38":{"90":{"location":"5:42423777-42721878","ensembl_id":"ENSG00000112964"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"GHR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Growth hormone insensitivity, partial, MIM#604271","Laron dwarfism, MIM#262500"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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":"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":["FLJ10768","ETS-1"],"biotype":"protein_coding","hgnc_id":"HGNC:3488","gene_name":"ETS proto-oncogene 1, transcription factor","omim_gene":["164720"],"alias_name":["Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1","ets protein"],"gene_symbol":"ETS1","hgnc_symbol":"ETS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:128328656-128457453","ensembl_id":"ENSG00000134954"}},"GRch38":{"90":{"location":"11:128458761-128587558","ensembl_id":"ENSG00000134954"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ETS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31160359"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, ETS1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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":"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":["CX32"],"biotype":"protein_coding","hgnc_id":"HGNC:4283","gene_name":"gap junction protein beta 1","omim_gene":["304040"],"alias_name":["Charcot-Marie-Tooth neuropathy, X-linked","connexin 32"],"gene_symbol":"GJB1","hgnc_symbol":"GJB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70435044-70445366","ensembl_id":"ENSG00000169562"}},"GRch38":{"90":{"location":"X:71215194-71225516","ensembl_id":"ENSG00000169562"}}},"hgnc_date_symbol_changed":"1990-02-12"},"entity_type":"gene","entity_name":"GJB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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":"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":["LDE","LD"],"biotype":"protein_coding","hgnc_id":"HGNC:3413","gene_name":"EPM2A, laforin glucan phosphatase","omim_gene":["607566"],"alias_name":null,"gene_symbol":"EPM2A","hgnc_symbol":"EPM2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:145822719-146057160","ensembl_id":"ENSG00000112425"}},"GRch38":{"90":{"location":"6:145382535-145736023","ensembl_id":"ENSG00000112425"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"EPM2A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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":"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":["stargazin","MGC138502","MGC138504"],"biotype":"protein_coding","hgnc_id":"HGNC:1406","gene_name":"calcium voltage-gated channel auxiliary subunit gamma 2","omim_gene":["602911"],"alias_name":null,"gene_symbol":"CACNG2","hgnc_symbol":"CACNG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:36959968-37099603","ensembl_id":"ENSG00000166862"}},"GRch38":{"90":{"location":"22:36563921-36703558","ensembl_id":"ENSG00000166862"}}},"hgnc_date_symbol_changed":"1999-06-11"},"entity_type":"gene","entity_name":"CACNG2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21376300"],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Mental retardation, autosomal dominant 10, MIM#614256"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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":"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":["PEZ"],"biotype":"protein_coding","hgnc_id":"HGNC:9647","gene_name":"protein tyrosine phosphatase, non-receptor type 14","omim_gene":["603155"],"alias_name":null,"gene_symbol":"PTPN14","hgnc_symbol":"PTPN14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:214522039-214725792","ensembl_id":"ENSG00000152104"}},"GRch38":{"90":{"location":"1:214348696-214552449","ensembl_id":"ENSG00000152104"}}},"hgnc_date_symbol_changed":"1995-02-22"},"entity_type":"gene","entity_name":"PTPN14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["22233626","29932521"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Choanal atresia and lymphedema 613611"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":300,"hash_id":null,"name":"Vascular Malformations_Germline","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause Mendelian vascular malformation disorders, particularly those presenting with skin lesions. Genes causing sporadic and congenital vascular malformations through somatic activating mutations are rated Red and labelled 'somatic'. This gene panel is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nIf a sample of affected tissue is being tested, please use the Vascular Malformations_Somatic panel.","status":"public","version":"1.13","version_created":"2026-01-24T18:03:26.952041+11:00","relevant_disorders":["Abnormal vascular morphology HP:0025015"],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NIR1","RDGBA3","ACKR6"],"biotype":"protein_coding","hgnc_id":"HGNC:21043","gene_name":"PITPNM family member 3","omim_gene":["608921"],"alias_name":["atypical chemokine receptor 6"],"gene_symbol":"PITPNM3","hgnc_symbol":"PITPNM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:6354584-6459814","ensembl_id":"ENSG00000091622"}},"GRch38":{"90":{"location":"17:6451264-6556494","ensembl_id":"ENSG00000091622"}}},"hgnc_date_symbol_changed":"2013-07-18"},"entity_type":"gene","entity_name":"PITPNM3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17377520","22405330"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Cone-rod dystrophy 5, 600977"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":303,"hash_id":null,"name":"Macular Dystrophy/Stargardt Disease","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.60","version_created":"2026-03-31T16:05:02.510211+11:00","relevant_disorders":["Macular dystrophy","HP:0007754"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13291"],"biotype":"protein_coding","hgnc_id":"HGNC:25807","gene_name":"solute carrier family 7 member 6 opposite strand","omim_gene":null,"alias_name":null,"gene_symbol":"SLC7A6OS","hgnc_symbol":"SLC7A6OS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:68318406-68344849","ensembl_id":"ENSG00000103061"}},"GRch38":{"90":{"location":"16:68284503-68310946","ensembl_id":"ENSG00000103061"}}},"hgnc_date_symbol_changed":"2005-09-01"},"entity_type":"gene","entity_name":"SLC7A6OS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["33085104"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Epilepsy, progressive myoclonic, 12, MIM# 619191"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":331,"hash_id":null,"name":"Progressive Myoclonic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.","status":"public","version":"0.28","version_created":"2025-11-21T09:34:57.163082+11:00","relevant_disorders":["Myoclonic seizure","HP:0032794"],"stats":{"number_of_genes":33,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MAD","MADA"],"biotype":"protein_coding","hgnc_id":"HGNC:468","gene_name":"adenosine monophosphate deaminase 1","omim_gene":["102770"],"alias_name":["AMPD isoform M","skeletal muscle AMPD"],"gene_symbol":"AMPD1","hgnc_symbol":"AMPD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115215719-115238239","ensembl_id":"ENSG00000116748"}},"GRch38":{"90":{"location":"1:114673090-114695618","ensembl_id":"ENSG00000116748"}}},"hgnc_date_symbol_changed":"1989-05-19"},"entity_type":"gene","entity_name":"AMPD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Myopathy due to myoadenylate deaminase deficiency 615511","Rhabdomyolysis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ADRAR"],"biotype":"protein_coding","hgnc_id":"HGNC:281","gene_name":"adrenoceptor alpha 2A","omim_gene":["104210"],"alias_name":["alpha-2AAR subtype C10"," alpha-2A-adrenergic receptor"],"gene_symbol":"ADRA2A","hgnc_symbol":"ADRA2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112836790-112840658","ensembl_id":"ENSG00000150594"}},"GRch38":{"90":{"location":"10:111077163-111080907","ensembl_id":"ENSG00000150594"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"ADRA2A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27376152"],"evidence":["Expert Review Red","Genomics England PanelApp","Genomics England PanelApp"],"phenotypes":["Lipodystrophy, familial partial, type 8, OMIM #620679"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.222","version_created":"2026-04-01T16:48:42.206624+11:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","RetNet"],"phenotypes":["Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110","Stargardt disease 3, 600110","Ichthyosis, spastic quadriplegia, and mental retardation, 614457"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P5CDh"],"biotype":"protein_coding","hgnc_id":"HGNC:406","gene_name":"aldehyde dehydrogenase 4 family member A1","omim_gene":["606811"],"alias_name":null,"gene_symbol":"ALDH4A1","hgnc_symbol":"ALDH4A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:19197926-19229275","ensembl_id":"ENSG00000159423"}},"GRch38":{"90":{"location":"1:18871430-18902781","ensembl_id":"ENSG00000159423"}}},"hgnc_date_symbol_changed":"1998-11-24"},"entity_type":"gene","entity_name":"ALDH4A1","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":null,"publications":["9700195 34037900 31884946"],"evidence":["Literature"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VEGF165R2"],"biotype":"protein_coding","hgnc_id":"HGNC:8005","gene_name":"neuropilin 2","omim_gene":["602070"],"alias_name":null,"gene_symbol":"NRP2","hgnc_symbol":"NRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:206546714-206662857","ensembl_id":"ENSG00000118257"}},"GRch38":{"90":{"location":"2:205681990-205798133","ensembl_id":"ENSG00000118257"}}},"hgnc_date_symbol_changed":"1998-12-23"},"entity_type":"gene","entity_name":"NRP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34636164","28334861"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Hypogonadotropic hypogonadism, MONDO:0018555"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"number_of_strs":1,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DLX8","BP1"],"biotype":"protein_coding","hgnc_id":"HGNC:2917","gene_name":"distal-less homeobox 4","omim_gene":["601911"],"alias_name":null,"gene_symbol":"DLX4","hgnc_symbol":"DLX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:48046334-48052321","ensembl_id":"ENSG00000108813"}},"GRch38":{"90":{"location":"17:49968970-49974959","ensembl_id":"ENSG00000108813"}}},"hgnc_date_symbol_changed":"1996-08-07"},"entity_type":"gene","entity_name":"DLX4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25954033","29738288"],"evidence":["Expert Review Red"],"phenotypes":["Orofacial cleft 15, MIM# 616788"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SAP97","SAP-97","hdlg","DLGH1","dJ1061C18.1.1"],"biotype":"protein_coding","hgnc_id":"HGNC:2900","gene_name":"discs large MAGUK scaffold protein 1","omim_gene":["601014"],"alias_name":["discs large homolog 1","presynaptic protein SAP97","synapse-associated protein 97"],"gene_symbol":"DLG1","hgnc_symbol":"DLG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:196769431-197026171","ensembl_id":"ENSG00000075711"}},"GRch38":{"90":{"location":"3:197042560-197299300","ensembl_id":"ENSG00000075711"}}},"hgnc_date_symbol_changed":"1995-05-04"},"entity_type":"gene","entity_name":"DLG1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 28926086"],"evidence":["Expert Review Red","Literature"],"phenotypes":["cleft lip/palate MONDO:0016044"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D11S813E","ASM","ASM1","NCRNA00008","LINC00008"],"biotype":"processed_transcript","hgnc_id":"HGNC:4713","gene_name":"H19, imprinted maternally expressed transcript (non-protein coding)","omim_gene":["103280"],"alias_name":["non-protein coding RNA 8","long intergenic non-protein coding RNA 8"],"gene_symbol":"H19","hgnc_symbol":"H19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2016406-2022700","ensembl_id":"ENSG00000130600"}},"GRch38":{"90":{"location":"11:1995163-2001470","ensembl_id":"ENSG00000130600"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"H19","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 20007505","15743916","23118352","[21863054","21571108","18245780]","24916376","25943194"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation)","Affected tissue: all","Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","tags":["non-coding gene"],"panel":{"id":3663,"hash_id":null,"name":"Imprinting disorders","disease_group":"","disease_sub_group":"","description":"This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.","status":"public","version":"1.9","version_created":"2025-11-11T22:13:10.948475+11:00","relevant_disorders":[],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SANG","NESP-AS","NESPAS","GNAS1AS","NCRNA00075"],"biotype":"antisense_RNA","hgnc_id":"HGNC:24872","gene_name":"GNAS antisense RNA 1","omim_gene":["610540"],"alias_name":["GNAS antisense","non-protein coding RNA 75"],"gene_symbol":"GNAS-AS1","hgnc_symbol":"GNAS-AS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:57393974-57425958","ensembl_id":"ENSG00000235590"}},"GRch38":{"90":{"location":"20:58818919-58850903","ensembl_id":"ENSG00000235590"}}},"hgnc_date_symbol_changed":"2010-11-25"},"entity_type":"gene","entity_name":"GNAS-AS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 22378814","15592469","29959430","25005734"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Pseudohypoparathyroidism type 1b MIM no: 603233"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","tags":["SV/CNV"],"panel":{"id":3663,"hash_id":null,"name":"Imprinting disorders","disease_group":"","disease_sub_group":"","description":"This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.","status":"public","version":"1.9","version_created":"2025-11-11T22:13:10.948475+11:00","relevant_disorders":[],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PFK-1","PPP1R122"],"biotype":"protein_coding","hgnc_id":"HGNC:8877","gene_name":"phosphofructokinase, muscle","omim_gene":["610681"],"alias_name":["protein phosphatase 1, regulatory subunit 122"],"gene_symbol":"PFKM","hgnc_symbol":"PFKM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48498922-48540187","ensembl_id":"ENSG00000152556"}},"GRch38":{"90":{"location":"12:48105139-48146404","ensembl_id":"ENSG00000152556"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PFKM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Glycogen storage disease VII, OMIM:232800","Glycogen storage disease VII, MONDO:0009295"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2861","gene_name":"dihydrofolate reductase","omim_gene":["126060"],"alias_name":null,"gene_symbol":"DHFR","hgnc_symbol":"DHFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:79922047-79950802","ensembl_id":"ENSG00000228716"}},"GRch38":{"90":{"location":"5:80626228-80654983","ensembl_id":"ENSG00000228716"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DHFR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21310276","21310277"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["TBR2"],"biotype":"protein_coding","hgnc_id":"HGNC:3372","gene_name":"eomesodermin","omim_gene":["604615"],"alias_name":["T-box brain2"],"gene_symbol":"EOMES","hgnc_symbol":"EOMES","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:27757440-27764206","ensembl_id":"ENSG00000163508"}},"GRch38":{"90":{"location":"3:27715949-27722711","ensembl_id":"ENSG00000163508"}}},"hgnc_date_symbol_changed":"1998-09-15"},"entity_type":"gene","entity_name":"EOMES","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["17353897"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["microcephaly","polymicrogyria","corpus callosum agenesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["DBL","ARHGEF21"],"biotype":"protein_coding","hgnc_id":"HGNC:6940","gene_name":"MCF.2 cell line derived transforming sequence","omim_gene":["311030"],"alias_name":["Oncogene MCF2 (oncogene DBL)"],"gene_symbol":"MCF2","hgnc_symbol":"MCF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:138663929-138790386","ensembl_id":"ENSG00000101977"}},"GRch38":{"90":{"location":"X:139581770-139708227","ensembl_id":"ENSG00000101977"}}},"hgnc_date_symbol_changed":"1989-06-06"},"entity_type":"gene","entity_name":"MCF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31846234"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Perisylvian polymicrogyria"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["NSAP1","GRY-RBP","dJ3J17.2","HNRPQ1","hnRNP-Q","HNRNPQ"],"biotype":"protein_coding","hgnc_id":"HGNC:16918","gene_name":"synaptotagmin binding cytoplasmic RNA interacting protein","omim_gene":["616686"],"alias_name":["heterogeneous nuclear ribonucleoprotein Q"],"gene_symbol":"SYNCRIP","hgnc_symbol":"SYNCRIP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:86318053-86353510","ensembl_id":"ENSG00000135316"}},"GRch38":{"90":{"location":"6:85607785-85643792","ensembl_id":"ENSG00000135316"}}},"hgnc_date_symbol_changed":"2003-11-27"},"entity_type":"gene","entity_name":"SYNCRIP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34157790"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["SYNCRIP-related neurodevelopmental disorder"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"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":["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":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XT3","Xtrp3"],"biotype":"protein_coding","hgnc_id":"HGNC:30927","gene_name":"solute carrier family 6 member 20","omim_gene":["605616"],"alias_name":null,"gene_symbol":"SLC6A20","hgnc_symbol":"SLC6A20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:45796942-45838027","ensembl_id":"ENSG00000163817"}},"GRch38":{"90":{"location":"3:45755450-45796535","ensembl_id":"ENSG00000163817"}}},"hgnc_date_symbol_changed":"2004-04-02"},"entity_type":"gene","entity_name":"SLC6A20","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36820062","19033659","24816252"],"evidence":["Expert Review Red","Other"],"phenotypes":["Hyperglycinuria MONDO:0007677"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0990","CSS1"],"biotype":"protein_coding","hgnc_id":"HGNC:17198","gene_name":"chondroitin sulfate synthase 1","omim_gene":["608183"],"alias_name":null,"gene_symbol":"CHSY1","hgnc_symbol":"CHSY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:101715928-101792137","ensembl_id":"ENSG00000131873"}},"GRch38":{"90":{"location":"15:101175723-101251932","ensembl_id":"ENSG00000131873"}}},"hgnc_date_symbol_changed":"2008-01-24"},"entity_type":"gene","entity_name":"CHSY1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Temtamy preaxial brachydactyly syndrome"],"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":["Ly74","TROP1","GA733-2","EGP34","EGP40","EGP-2","KSA","CD326","Ep-CAM","HEA125","KS1/4","MK-1","MH99","MOC31","323/A3","17-1A","TACST-1","CO-17A","ESA"],"biotype":"protein_coding","hgnc_id":"HGNC:11529","gene_name":"epithelial cell adhesion molecule","omim_gene":["185535"],"alias_name":null,"gene_symbol":"EPCAM","hgnc_symbol":"EPCAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47572297-47614740","ensembl_id":"ENSG00000119888"}},"GRch38":{"90":{"location":"2:47345158-47387601","ensembl_id":"ENSG00000119888"}}},"hgnc_date_symbol_changed":"2008-12-16"},"entity_type":"gene","entity_name":"EPCAM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Lynch syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","BabySeq Category A gene","Expert Review Red"],"phenotypes":["Myofibrillar myopathy","Emery-Dreifuss muscular dystrophy"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30544","bA120J8.2","TTD-A","TFB5","TFIIH","TTDA"],"biotype":"protein_coding","hgnc_id":"HGNC:21157","gene_name":"general transcription factor IIH subunit 5","omim_gene":["608780"],"alias_name":["DNA repair syndrome trichothiodystrophy group A"],"gene_symbol":"GTF2H5","hgnc_symbol":"GTF2H5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:158589384-158620376","ensembl_id":"ENSG00000272047"}},"GRch38":{"90":{"location":"6:158168352-158199344","ensembl_id":"ENSG00000272047"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"GTF2H5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Trichothiodystrophy"],"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":["WDR140","WDR10p","SPG"],"biotype":"protein_coding","hgnc_id":"HGNC:13556","gene_name":"intraflagellar transport 122","omim_gene":["606045"],"alias_name":null,"gene_symbol":"IFT122","hgnc_symbol":"IFT122","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:129158968-129239198","ensembl_id":"ENSG00000163913"}},"GRch38":{"90":{"location":"3:129440036-129520507","ensembl_id":"ENSG00000163913"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT122","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Cranioectodermal dysplasia"],"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":["cavin-4"],"biotype":"protein_coding","hgnc_id":"HGNC:33742","gene_name":"caveolae associated protein 4","omim_gene":["617714"],"alias_name":["muscle-restricted coiled-coil protein"],"gene_symbol":"CAVIN4","hgnc_symbol":"CAVIN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:103340361-103350188","ensembl_id":"ENSG00000170681"}},"GRch38":{"90":{"location":"9:100578079-100587906","ensembl_id":"ENSG00000170681"}}},"hgnc_date_symbol_changed":"2017-03-24"},"entity_type":"gene","entity_name":"CAVIN4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Cardiomyopathy, dilated"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["lncRNA-N3"],"biotype":"protein_coding","hgnc_id":"HGNC:1399","gene_name":"calcium voltage-gated channel auxiliary subunit alpha2delta 1","omim_gene":["114204"],"alias_name":null,"gene_symbol":"CACNA2D1","hgnc_symbol":"CACNA2D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:81575760-82073114","ensembl_id":"ENSG00000153956"}},"GRch38":{"90":{"location":"7:81946444-82443798","ensembl_id":"ENSG00000153956"}}},"hgnc_date_symbol_changed":"1992-03-27"},"entity_type":"gene","entity_name":"CACNA2D1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Brugada syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0424","PEM-2"],"biotype":"protein_coding","hgnc_id":"HGNC:14561","gene_name":"Cdc42 guanine nucleotide exchange factor 9","omim_gene":["300429"],"alias_name":["collybistin"],"gene_symbol":"ARHGEF9","hgnc_symbol":"ARHGEF9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:62854847-63005426","ensembl_id":"ENSG00000131089"}},"GRch38":{"90":{"location":"X:63634967-63809274","ensembl_id":"ENSG00000131089"}}},"hgnc_date_symbol_changed":"2001-02-06"},"entity_type":"gene","entity_name":"ARHGEF9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Hyperekplexia and epilepsy"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434J046","FLJ33298"],"biotype":"protein_coding","hgnc_id":"HGNC:24502","gene_name":"WD repeat domain 62","omim_gene":["613583"],"alias_name":null,"gene_symbol":"WDR62","hgnc_symbol":"WDR62","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36545783-36596008","ensembl_id":"ENSG00000075702"}},"GRch38":{"90":{"location":"19:36054881-36105106","ensembl_id":"ENSG00000075702"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"WDR62","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["35188728"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317"],"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":["SCARB3","GPIV","FAT","GP4","GP3B"],"biotype":"protein_coding","hgnc_id":"HGNC:1663","gene_name":"CD36 molecule","omim_gene":["173510"],"alias_name":null,"gene_symbol":"CD36","hgnc_symbol":"CD36","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:79998891-80308593","ensembl_id":"ENSG00000135218"}},"GRch38":{"90":{"location":"7:80369575-80679277","ensembl_id":"ENSG00000135218"}}},"hgnc_date_symbol_changed":"1993-06-04"},"entity_type":"gene","entity_name":"CD36","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Platelet glycoprotein IV deficiency"],"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":["PEO","PEO1","TWINKLE","FLJ21832","TWINL"],"biotype":"protein_coding","hgnc_id":"HGNC:1160","gene_name":"twinkle mtDNA helicase","omim_gene":["606075"],"alias_name":["T7 helicase-related protein with intramitochondrial nucleoid localization"],"gene_symbol":"TWNK","hgnc_symbol":"TWNK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102747124-102754158","ensembl_id":"ENSG00000107815"}},"GRch38":{"90":{"location":"10:100987367-100994401","ensembl_id":"ENSG00000107815"}}},"hgnc_date_symbol_changed":"2016-10-11"},"entity_type":"gene","entity_name":"TWNK","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16135556","19304794","17921179","27551684","12872260","31823625"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245"],"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":["FHR-3","HLF4","FHR3","DOWN16"],"biotype":"protein_coding","hgnc_id":"HGNC:16980","gene_name":"complement factor H related 3","omim_gene":["605336"],"alias_name":null,"gene_symbol":"CFHR3","hgnc_symbol":"CFHR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:196743925-196763203","ensembl_id":"ENSG00000116785"}},"GRch38":{"90":{"location":"1:196774795-196795406","ensembl_id":"ENSG00000116785"}}},"hgnc_date_symbol_changed":"2006-02-28"},"entity_type":"gene","entity_name":"CFHR3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Haemolytic uraemic syndrome"],"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":["LGMD2M"],"biotype":"protein_coding","hgnc_id":"HGNC:3622","gene_name":"fukutin","omim_gene":["607440"],"alias_name":null,"gene_symbol":"FKTN","hgnc_symbol":"FKTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:108320411-108403399","ensembl_id":"ENSG00000106692"}},"GRch38":{"90":{"location":"9:105558130-105641118","ensembl_id":"ENSG00000106692"}}},"hgnc_date_symbol_changed":"2007-11-21"},"entity_type":"gene","entity_name":"FKTN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Muscular dystrophy-dystroglycanopathy MONDO:0018276"],"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":["LDE","LD"],"biotype":"protein_coding","hgnc_id":"HGNC:3413","gene_name":"EPM2A, laforin glucan phosphatase","omim_gene":["607566"],"alias_name":null,"gene_symbol":"EPM2A","hgnc_symbol":"EPM2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:145822719-146057160","ensembl_id":"ENSG00000112425"}},"GRch38":{"90":{"location":"6:145382535-145736023","ensembl_id":"ENSG00000112425"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"EPM2A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Lafora disease MONDO:0009697"],"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":["TRS20","SEDT","MIP-2A","ZNF547L","hYP38334"],"biotype":"protein_coding","hgnc_id":"HGNC:23068","gene_name":"trafficking protein particle complex 2","omim_gene":["300202"],"alias_name":null,"gene_symbol":"TRAPPC2","hgnc_symbol":"TRAPPC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:13730363-13752754","ensembl_id":"ENSG00000196459"}},"GRch38":{"90":{"location":"X:13712244-13734635","ensembl_id":"ENSG00000196459"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"gene","entity_name":"TRAPPC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20301324"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Spondyloepiphyseal dysplasia tarda MIM#313400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11604","gene_name":"T-box 5","omim_gene":["601620"],"alias_name":null,"gene_symbol":"TBX5","hgnc_symbol":"TBX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:114791736-114846247","ensembl_id":"ENSG00000089225"}},"GRch38":{"90":{"location":"12:114353931-114408442","ensembl_id":"ENSG00000089225"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"TBX5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Holt-Oram syndrome, MIM# 142900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1005","CORS3","JBTS7","MKS5","NPHP8","FTM","PPP1R134"],"biotype":"protein_coding","hgnc_id":"HGNC:29168","gene_name":"RPGRIP1 like","omim_gene":["610937"],"alias_name":["fantom homolog","Meckel syndrome, type 5","protein phosphatase 1, regulatory subunit 134"],"gene_symbol":"RPGRIP1L","hgnc_symbol":"RPGRIP1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:53631595-53737850","ensembl_id":"ENSG00000103494"}},"GRch38":{"90":{"location":"16:53597683-53703938","ensembl_id":"ENSG00000103494"}}},"hgnc_date_symbol_changed":"2007-05-14"},"entity_type":"gene","entity_name":"RPGRIP1L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Joubert syndrome 7, MIM# 611560","Meckel syndrome 5, MIM# 611561","COACH syndrome 3, MIM# 619113","Nephronophthisis"],"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":["KIAA1780"],"biotype":"protein_coding","hgnc_id":"HGNC:29634","gene_name":"multiple EGF like domains 10","omim_gene":["612453"],"alias_name":null,"gene_symbol":"MEGF10","hgnc_symbol":"MEGF10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:126626523-126801429","ensembl_id":"ENSG00000145794"}},"GRch38":{"90":{"location":"5:127290831-127465737","ensembl_id":"ENSG00000145794"}}},"hgnc_date_symbol_changed":"2006-03-31"},"entity_type":"gene","entity_name":"MEGF10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399"],"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":["nicein-100kDa","kalinin-105kDa","BM600-100kDa"],"biotype":"protein_coding","hgnc_id":"HGNC:6493","gene_name":"laminin subunit gamma 2","omim_gene":["150292"],"alias_name":null,"gene_symbol":"LAMC2","hgnc_symbol":"LAMC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:183155373-183214035","ensembl_id":"ENSG00000058085"}},"GRch38":{"90":{"location":"1:183186238-183244900","ensembl_id":"ENSG00000058085"}}},"hgnc_date_symbol_changed":"1993-07-13"},"entity_type":"gene","entity_name":"LAMC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Epidermolysis bullosa, junctional 3B, severe, MIM# 619786"],"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:6427","gene_name":"keratin 17","omim_gene":["148069"],"alias_name":null,"gene_symbol":"KRT17","hgnc_symbol":"KRT17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39775689-39781094","ensembl_id":"ENSG00000128422"}},"GRch38":{"90":{"location":"17:41619437-41624842","ensembl_id":"ENSG00000128422"}}},"hgnc_date_symbol_changed":"1993-10-18"},"entity_type":"gene","entity_name":"KRT17","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv1.1","RBK1","HUK1","MBK1"],"biotype":"protein_coding","hgnc_id":"HGNC:6218","gene_name":"potassium voltage-gated channel subfamily A member 1","omim_gene":["176260"],"alias_name":null,"gene_symbol":"KCNA1","hgnc_symbol":"KCNA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:5019071-5040527","ensembl_id":"ENSG00000111262"}},"GRch38":{"90":{"location":"12:4909893-4918256","ensembl_id":"ENSG00000111262"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Episodic ataxia/myokymia syndrome, MIM# 160120"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MFE-2","DBP","SDR8C1"],"biotype":"protein_coding","hgnc_id":"HGNC:5213","gene_name":"hydroxysteroid 17-beta dehydrogenase 4","omim_gene":["601860"],"alias_name":["17beta-estradiol dehydrogenase type IV","peroxisomal multifunctional protein 2","17-beta-HSD IV","17-beta-hydroxysteroid dehydrogenase 4","D-bifunctional protein, peroxisomal","D-3-hydroxyacyl-CoA dehydratase","3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase","beta-keto-reductase","beta-hydroxyacyl dehydrogenase","short chain dehydrogenase/reductase family 8C, member 1"],"gene_symbol":"HSD17B4","hgnc_symbol":"HSD17B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:118788138-118972894","ensembl_id":"ENSG00000133835"}},"GRch38":{"90":{"location":"5:119452443-119637199","ensembl_id":"ENSG00000133835"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"HSD17B4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["D-bifunctional protein deficiency, AR (MIM#261515)","Perrault syndrome 1, AR (MIM#233400)"],"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":["TAO1","KIAA0881","PSK","PSK1","TAO2","MAP3K17"],"biotype":"protein_coding","hgnc_id":"HGNC:16835","gene_name":"TAO kinase 2","omim_gene":["613199"],"alias_name":null,"gene_symbol":"TAOK2","hgnc_symbol":"TAOK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:29984962-30003582","ensembl_id":"ENSG00000149930"}},"GRch38":{"90":{"location":"16:29973641-29992261","ensembl_id":"ENSG00000149930"}}},"hgnc_date_symbol_changed":"2004-10-20"},"entity_type":"gene","entity_name":"TAOK2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36117209"],"evidence":["Expert Review Red","Expert Review","Expert list"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), TAOK2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4290,"hash_id":null,"name":"Speech apraxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.","status":"public","version":"1.28","version_created":"2026-03-06T16:38:48.591739+11:00","relevant_disorders":[],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["parafibromin","FIHP"],"biotype":"protein_coding","hgnc_id":"HGNC:16783","gene_name":"cell division cycle 73","omim_gene":["607393"],"alias_name":["Paf1/RNA polymerase II complex component"],"gene_symbol":"CDC73","hgnc_symbol":"CDC73","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:193091147-193223031","ensembl_id":"ENSG00000134371"}},"GRch38":{"90":{"location":"1:193122017-193253901","ensembl_id":"ENSG00000134371"}}},"hgnc_date_symbol_changed":"2005-07-20"},"entity_type":"gene","entity_name":"CDC73","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37339334, 7912571, 7717405"],"evidence":["Expert Review Red","Literature","Expert Review","Expert list"],"phenotypes":["Wilms tumor, MONDO:0006058","Hyperparathyroidism 2 with jaw tumors, MONDO:0007768","Hyperparathyroidism-jaw tumor syndrome, MIM#145001","Hyperparathyroidism, familial primary, MIM#145000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4366,"hash_id":null,"name":"Wilms Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with Wilms tumour. \r\n\r\nFurther information on the testing criteria for Wilms tumour can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3703-wilms-tumour-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 Wilms 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\nWhere Beckwith-Wiedemann Syndrome (BWS) is suspected it is more appropriate to start with methylation studies of 11p15 BWS region in blood and tissue.\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":"2025-09-05T08:17:06.102713+10:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37432-Gain","verbose_name":"Chromosome 17q12 duplication 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":["PMID: 19844256"],"evidence":["Expert list","Expert Review Green","Expert list","Expert list"],"phenotypes":["Chromosome 17q12 duplication syndrome\t614526","intellectual disability","seizures","congenital anomalies"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","chromosome":"17","grch37_coordinates":null,"grch38_coordinates":[36458167,37854617],"tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.204","version_created":"2026-03-19T13:24:30.325727+11:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}},{"gene_data":{"alias":["JBTS4","SLSN1"],"biotype":"protein_coding","hgnc_id":"HGNC:7905","gene_name":"nephrocystin 1","omim_gene":["607100"],"alias_name":null,"gene_symbol":"NPHP1","hgnc_symbol":"NPHP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:110879888-110962643","ensembl_id":"ENSG00000144061"}},"GRch38":{"90":{"location":"2:110122311-110205066","ensembl_id":"ENSG00000144061"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"region","entity_name":"ISCA-37405-Loss","verbose_name":"NPHP1 deletion","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["29146700"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Nephronophthisis 1, juvenile, MIM#\t256100","Joubert syndrome 4, MIM#\t609583","Senior-Loken syndrome 1, MIM#\t266900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","chromosome":"2","grch37_coordinates":null,"grch38_coordinates":[110122329,110205017],"tags":["SV/CNV"],"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":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37411-Loss","verbose_name":"Chromosome 15q13.3 microdeletion syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["19372089","20979196"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Chromosome 15q13.3 microdeletion syndrome, MIM#\t612001","intellectual disability","epilepsy"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","chromosome":"15","grch37_coordinates":null,"grch38_coordinates":[30844901,32153207],"tags":["SV/CNV"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37404-Loss","verbose_name":"Angelman and Prader-Willi syndromes","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["20301323","20301505"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Angelman syndrome, MIM#\t105830","Prader-Willi syndrome, MIM#\t176270"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","chromosome":"15","grch37_coordinates":null,"grch38_coordinates":[22782170,28134729],"tags":["SV/CNV"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37418-Loss","verbose_name":"17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":"","required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["20301487","37628566"],"evidence":["Expert Review Green","NHS GMS","ClinGen"],"phenotypes":["Smith-Magenis syndrome, MIM#182290"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","chromosome":"17","grch37_coordinates":null,"grch38_coordinates":[16853797,20316338],"tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37424-Loss","verbose_name":"10q22.3q23.2 deletion syndrome (LCR-3/4-flanked)","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["20345475","25846706"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked)","intellectual disability","autism","macrocephaly"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"10","grch37_coordinates":null,"grch38_coordinates":[79923892,86983483],"tags":["SV/CNV"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37406-Loss","verbose_name":"16p13.3 region (includes CREBBP) Loss","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":"","required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["16783566","10573006"],"evidence":["Expert Review Green","ClinGen","NHS GMS"],"phenotypes":["PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes","610543"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","chromosome":"16","grch37_coordinates":null,"grch38_coordinates":[3725055,3880120],"tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37436-Loss","verbose_name":"Hereditary neuropathy with liability to pressure palsies","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["PMID: 32356557","31118906","24726093"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neuropathy, recurrent, with pressure palsies, MIM# 162500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","chromosome":"17","grch37_coordinates":null,"grch38_coordinates":[14194598,15567587],"tags":["SV/CNV"],"panel":{"id":3443,"hash_id":null,"name":"Common deletion and duplication syndromes","disease_group":"","disease_sub_group":"","description":"Under construction","status":"public","version":"0.156","version_created":"2026-02-06T14:14:01.107904+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":0,"number_of_regions":71},"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":[]}}]}