{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=322","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=320","results":[{"gene_data":{"alias":["HP10481"],"biotype":"protein_coding","hgnc_id":"HGNC:13530","gene_name":"transmembrane protein 5","omim_gene":["605862"],"alias_name":null,"gene_symbol":"TMEM5","hgnc_symbol":"TMEM5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:64173583-64203338","ensembl_id":"ENSG00000118600"}},"GRch38":{"90":{"location":"12:63779803-63809558","ensembl_id":"ENSG00000118600"}}},"hgnc_date_symbol_changed":"2000-09-20"},"entity_type":"gene","entity_name":"TMEM5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23217329","23519211"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":6,"hash_id":null,"name":"Cobblestone Malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations flagship. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KCa1.1","mSLO1"],"biotype":"protein_coding","hgnc_id":"HGNC:6284","gene_name":"potassium calcium-activated channel subfamily M alpha 1","omim_gene":["600150"],"alias_name":["BK channel alpha subunit","maxiK channel","big potassium channel alpha subunit"],"gene_symbol":"KCNMA1","hgnc_symbol":"KCNMA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:78629359-79398353","ensembl_id":"ENSG00000156113"}},"GRch38":{"90":{"location":"10:76869601-77638369","ensembl_id":"ENSG00000156113"}}},"hgnc_date_symbol_changed":"1994-12-15"},"entity_type":"gene","entity_name":"KCNMA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15937479","26195193","27567911","29545233","31427379","31152168"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0012276","Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446","Cerebellar atrophy, developmental delay, and seizures, MIM# 617643","Liang-Wang syndrome, MIM# 618729"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GluII","G2AN","KIAA0088","GIIA"],"biotype":"protein_coding","hgnc_id":"HGNC:4138","gene_name":"glucosidase II alpha subunit","omim_gene":["104160"],"alias_name":["neutral alpha-glucosidase AB"],"gene_symbol":"GANAB","hgnc_symbol":"GANAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62392298-62414104","ensembl_id":"ENSG00000089597"}},"GRch38":{"90":{"location":"11:62624826-62646726","ensembl_id":"ENSG00000089597"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GANAB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27259053"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Polycystic kidney disease 3, MIM# 600666"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PCDH-GAMMA-C4"],"biotype":"protein_coding","hgnc_id":"HGNC:8717","gene_name":"protocadherin gamma subfamily C, 4","omim_gene":["606305"],"alias_name":null,"gene_symbol":"PCDHGC4","hgnc_symbol":"PCDHGC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140864741-140892546","ensembl_id":"ENSG00000242419"}},"GRch38":{"90":{"location":"5:141484997-141512979","ensembl_id":"ENSG00000242419"}}},"hgnc_date_symbol_changed":"2000-06-28"},"entity_type":"gene","entity_name":"PCDHGC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34244665"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIP1","P27KIP1"],"biotype":"protein_coding","hgnc_id":"HGNC:1785","gene_name":"cyclin dependent kinase inhibitor 1B","omim_gene":["600778"],"alias_name":null,"gene_symbol":"CDKN1B","hgnc_symbol":"CDKN1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:12867992-12875305","ensembl_id":"ENSG00000111276"}},"GRch38":{"90":{"location":"12:12715058-12722371","ensembl_id":"ENSG00000111276"}}},"hgnc_date_symbol_changed":"1995-09-14"},"entity_type":"gene","entity_name":"CDKN1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24819502","17030811","23555276"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Multiple endocrine neoplasia type 4, MEN4, OMIM #610755"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16791","gene_name":"tRNA splicing endonuclease subunit 15","omim_gene":["608756"],"alias_name":null,"gene_symbol":"TSEN15","hgnc_symbol":"TSEN15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:184020811-184043346","ensembl_id":"ENSG00000198860"}},"GRch38":{"90":{"location":"1:184051677-184074212","ensembl_id":"ENSG00000198860"}}},"hgnc_date_symbol_changed":"2008-06-12"},"entity_type":"gene","entity_name":"TSEN15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27392077"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pontocerebellar hypoplasia, type 2F MIM#617026"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23091","MRP","wls","EVI","mig-14"],"biotype":"protein_coding","hgnc_id":"HGNC:30238","gene_name":"wntless Wnt ligand secretion mediator","omim_gene":["611514"],"alias_name":["wntless homolog"],"gene_symbol":"WLS","hgnc_symbol":"WLS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:68564142-68698803","ensembl_id":"ENSG00000116729"}},"GRch38":{"90":{"location":"1:68098473-68233120","ensembl_id":"ENSG00000116729"}}},"hgnc_date_symbol_changed":"2010-03-02"},"entity_type":"gene","entity_name":"WLS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34587386"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Syndromic structural birth defects"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10925"],"biotype":"protein_coding","hgnc_id":"HGNC:25604","gene_name":"chromosome 7 open reading frame 43","omim_gene":null,"alias_name":null,"gene_symbol":"C7orf43","hgnc_symbol":"C7orf43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:99752043-99756338","ensembl_id":"ENSG00000146826"}},"GRch38":{"90":{"location":"7:100154420-100158715","ensembl_id":"ENSG00000146826"}}},"hgnc_date_symbol_changed":"2006-08-08"},"entity_type":"gene","entity_name":"C7orf43","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30715179"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Microcephaly 25, primary, autosomal recessive, MIM#\t618351"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0609"],"biotype":"protein_coding","hgnc_id":"HGNC:6511","gene_name":"LARGE xylosyl- and glucuronyltransferase 1","omim_gene":["603590"],"alias_name":["like-acetylglucosaminyltransferase"],"gene_symbol":"LARGE1","hgnc_symbol":"LARGE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:33558212-34318829","ensembl_id":"ENSG00000133424"}},"GRch38":{"90":{"location":"22:33162226-33922841","ensembl_id":"ENSG00000133424"}}},"hgnc_date_symbol_changed":"2016-05-31"},"entity_type":"gene","entity_name":"LARGE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnH"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7487","gene_name":"mitochondrially encoded tRNA histidine","omim_gene":["590040"],"alias_name":null,"gene_symbol":"MT-TH","hgnc_symbol":"MT-TH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:12138-12206","ensembl_id":"ENSG00000210176"}},"GRch38":{"90":{"location":"MT:12138-12206","ensembl_id":"ENSG00000210176"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12682337","14967777","15111688","21704194","21931169","23696415","35092007","24920829","21704194"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TH-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FGFIBP"],"biotype":"protein_coding","hgnc_id":"HGNC:3705","gene_name":"FGF1 intracellular binding protein","omim_gene":["608296"],"alias_name":null,"gene_symbol":"FIBP","hgnc_symbol":"FIBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65651212-65656010","ensembl_id":"ENSG00000172500"}},"GRch38":{"90":{"location":"11:65883741-65888539","ensembl_id":"ENSG00000172500"}}},"hgnc_date_symbol_changed":"1999-06-07"},"entity_type":"gene","entity_name":"FIBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["40099975","37876348","36919607","27183861","26660953"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Thauvin-Robinet-Faivre syndrome, MIM#617107"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":151,"hash_id":null,"name":"Overgrowth","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with generalised overgrowth of prenatal or postnatal onset. Generalised overgrowth is characterised by a relatively proportionate increase in stature (length or height) and/or head circumference at least two standard deviations above the mean compared to the age‐related peer group. This panel does not contain genes causing segmental overgrowth.\r\n\r\nChromosomal testing/methylation studies are recommended prior to sequencing for the diagnosis of Beckwith-Wiedemann syndrome.\r\n\r\nPlease also refer to the Macrocephaly panel if head growth is primarily or disproportionately affected.","status":"public","version":"1.21","version_created":"2026-04-01T17:27:51.801810+11:00","relevant_disorders":["Overgrowth","HP:0001548; Tall stature","HP:0000098; Increased body weight","HP:0004324"],"stats":{"number_of_genes":31,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NF1A"],"biotype":"protein_coding","hgnc_id":"HGNC:7788","gene_name":"nuclear factor I X","omim_gene":["164005"],"alias_name":["CCAAT-binding transcription factor"],"gene_symbol":"NFIX","hgnc_symbol":"NFIX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13106422-13209610","ensembl_id":"ENSG00000008441"}},"GRch38":{"90":{"location":"19:12995608-13098796","ensembl_id":"ENSG00000008441"}}},"hgnc_date_symbol_changed":"1993-11-03"},"entity_type":"gene","entity_name":"NFIX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33034087","29897170","30548146","25118028"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Sotos syndrome 2, MIM# 614753","Malan syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":151,"hash_id":null,"name":"Overgrowth","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with generalised overgrowth of prenatal or postnatal onset. Generalised overgrowth is characterised by a relatively proportionate increase in stature (length or height) and/or head circumference at least two standard deviations above the mean compared to the age‐related peer group. This panel does not contain genes causing segmental overgrowth.\r\n\r\nChromosomal testing/methylation studies are recommended prior to sequencing for the diagnosis of Beckwith-Wiedemann syndrome.\r\n\r\nPlease also refer to the Macrocephaly panel if head growth is primarily or disproportionately affected.","status":"public","version":"1.21","version_created":"2026-04-01T17:27:51.801810+11:00","relevant_disorders":["Overgrowth","HP:0001548; Tall stature","HP:0000098; Increased body weight","HP:0004324"],"stats":{"number_of_genes":31,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAGH45","HOPA","OPA1","TRAP230","KIAA0192","OKS"],"biotype":"protein_coding","hgnc_id":"HGNC:11957","gene_name":"mediator complex subunit 12","omim_gene":["300188"],"alias_name":null,"gene_symbol":"MED12","hgnc_symbol":"MED12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70338406-70362303","ensembl_id":"ENSG00000184634"}},"GRch38":{"90":{"location":"X:71118556-71142454","ensembl_id":"ENSG00000184634"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"MED12","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Lujan-Fryns syndrome, MIM# 309520","Opitz-Kaveggia syndrome, MIM# 305450"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":151,"hash_id":null,"name":"Overgrowth","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with generalised overgrowth of prenatal or postnatal onset. Generalised overgrowth is characterised by a relatively proportionate increase in stature (length or height) and/or head circumference at least two standard deviations above the mean compared to the age‐related peer group. This panel does not contain genes causing segmental overgrowth.\r\n\r\nChromosomal testing/methylation studies are recommended prior to sequencing for the diagnosis of Beckwith-Wiedemann syndrome.\r\n\r\nPlease also refer to the Macrocephaly panel if head growth is primarily or disproportionately affected.","status":"public","version":"1.21","version_created":"2026-04-01T17:27:51.801810+11:00","relevant_disorders":["Overgrowth","HP:0001548; Tall stature","HP:0000098; Increased body weight","HP:0004324"],"stats":{"number_of_genes":31,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kir2.1","IRK1","LQT7"],"biotype":"protein_coding","hgnc_id":"HGNC:6263","gene_name":"potassium voltage-gated channel subfamily J member 2","omim_gene":["600681"],"alias_name":null,"gene_symbol":"KCNJ2","hgnc_symbol":"KCNJ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:68164814-68176189","ensembl_id":"ENSG00000123700"}},"GRch38":{"90":{"location":"17:70168673-70180048","ensembl_id":"ENSG00000123700"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"KCNJ2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["34557911"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short QT syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":174,"hash_id":null,"name":"Short QT syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.7","version_created":"2023-07-25T17:54:13.214709+10:00","relevant_disorders":["Shortened QT interval","HP:0012232"],"stats":{"number_of_genes":9,"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":["CDC8","TYMK","TMPK"],"biotype":"protein_coding","hgnc_id":"HGNC:3061","gene_name":"deoxythymidylate kinase","omim_gene":["188345"],"alias_name":["dTMP kinase","thymidylate (dTMP) kinase"],"gene_symbol":"DTYMK","hgnc_symbol":"DTYMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:242615157-242626406","ensembl_id":"ENSG00000168393"}},"GRch38":{"90":{"location":"2:241675742-241686991","ensembl_id":"ENSG00000168393"}}},"hgnc_date_symbol_changed":"1991-09-12"},"entity_type":"gene","entity_name":"DTYMK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4087","gene_name":"gamma-aminobutyric acid type A receptor gamma2 subunit","omim_gene":["137164"],"alias_name":["GABA(A) receptor, gamma 2"],"gene_symbol":"GABRG2","hgnc_symbol":"GABRG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:161494546-161582542","ensembl_id":"ENSG00000113327"}},"GRch38":{"90":{"location":"5:162000057-162162977","ensembl_id":"ENSG00000113327"}}},"hgnc_date_symbol_changed":"1991-02-26"},"entity_type":"gene","entity_name":"GABRG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11326274","11326275","27864268"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Epileptic encephalopathy, early infantile, 74 618396","Epilepsy, generalized, with febrile seizures plus, type 3 607681"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":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":["bA430M15.1","CanIon"],"biotype":"protein_coding","hgnc_id":"HGNC:19082","gene_name":"sodium leak channel, non-selective","omim_gene":["611549"],"alias_name":null,"gene_symbol":"NALCN","hgnc_symbol":"NALCN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:101706130-102068843","ensembl_id":"ENSG00000102452"}},"GRch38":{"90":{"location":"13:101053776-101416492","ensembl_id":"ENSG00000102452"}}},"hgnc_date_symbol_changed":"2007-04-26"},"entity_type":"gene","entity_name":"NALCN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30167850","25683120","35388452","28327206","27473021","27558372"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266","Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419"],"mode_of_inheritance":"BOTH monoallelic and 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":["CHD2-42","CHD2-52"],"biotype":"protein_coding","hgnc_id":"HGNC:3039","gene_name":"DS cell adhesion molecule","omim_gene":["602523"],"alias_name":null,"gene_symbol":"DSCAM","hgnc_symbol":"DSCAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:41382926-42219065","ensembl_id":"ENSG00000171587"}},"GRch38":{"90":{"location":"21:40010999-40847139","ensembl_id":"ENSG00000171587"}}},"hgnc_date_symbol_changed":"1998-06-10"},"entity_type":"gene","entity_name":"DSCAM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAB3-GAP150","KIAA0839","DKFZP434D245","SPG69"],"biotype":"protein_coding","hgnc_id":"HGNC:17168","gene_name":"RAB3 GTPase activating non-catalytic protein subunit 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1","omim_gene":["601205"],"alias_name":null,"gene_symbol":"SIX1","hgnc_symbol":"SIX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:61110133-61124977","ensembl_id":"ENSG00000126778"}},"GRch38":{"90":{"location":"14:60643415-60658259","ensembl_id":"ENSG00000126778"}}},"hgnc_date_symbol_changed":"1995-09-29"},"entity_type":"gene","entity_name":"SIX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15141091","18330911","21254961","17637804","29500469","21700001","24164807"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 23, MIM# 605192","Branchiootic syndrome 3, MIM# 608389"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":null},{"gene_data":{"alias":["HsT2651","CTS"],"biotype":"protein_coding","hgnc_id":"HGNC:12405","gene_name":"transthyretin","omim_gene":["176300"],"alias_name":null,"gene_symbol":"TTR","hgnc_symbol":"TTR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:29171689-29178974","ensembl_id":"ENSG00000118271"}},"GRch38":{"90":{"location":"18:31591726-31599021","ensembl_id":"ENSG00000118271"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TTR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35802134"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hereditary transthyretin-related amyloidosis MIM#105210"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1633","gene_name":"CD19 molecule","omim_gene":["107265"],"alias_name":null,"gene_symbol":"CD19","hgnc_symbol":"CD19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28943260-28950667","ensembl_id":"ENSG00000177455"}},"GRch38":{"90":{"location":"16:28931939-28939346","ensembl_id":"ENSG00000177455"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"CD19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16672701","17882224","17882224","21330302","21159371"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency, common variable, 3, MIM# 613493"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":222,"hash_id":null,"name":"Predominantly Antibody Deficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20729","NY-BR-75","BCD1"],"biotype":"protein_coding","hgnc_id":"HGNC:26089","gene_name":"zinc finger HIT-type containing 6","omim_gene":null,"alias_name":["box C/D snoRNA essential 1 homolog (S. cerevisiae)"],"gene_symbol":"ZNHIT6","hgnc_symbol":"ZNHIT6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:86115106-86174116","ensembl_id":"ENSG00000117174"}},"GRch38":{"90":{"location":"1:85649423-85708433","ensembl_id":"ENSG00000117174"}}},"hgnc_date_symbol_changed":"2008-06-23"},"entity_type":"gene","entity_name":"ZNHIT6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":[],"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. 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2B","omim_gene":["602730"],"alias_name":null,"gene_symbol":"ACVR2B","hgnc_symbol":"ACVR2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38495342-38534633","ensembl_id":"ENSG00000114739"}},"GRch38":{"90":{"location":"3:38453851-38493142","ensembl_id":"ENSG00000114739"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"ACVR2B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert Review Red","Emory Genetics Laboratory","Victorian Clinical Genetics Services"],"phenotypes":["Heterotaxy, visceral, 4, autosomal\t613751"],"mode_of_inheritance":"Unknown","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":[]},"transcript":null},{"gene_data":{"alias":["Kv7.2","ENB1","BFNC","KCNA11","HNSPC"],"biotype":"protein_coding","hgnc_id":"HGNC:6296","gene_name":"potassium voltage-gated channel subfamily Q member 2","omim_gene":["602235"],"alias_name":null,"gene_symbol":"KCNQ2","hgnc_symbol":"KCNQ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62037542-62103993","ensembl_id":"ENSG00000075043"}},"GRch38":{"90":{"location":"20:63400210-63472677","ensembl_id":"ENSG00000075043"}}},"hgnc_date_symbol_changed":"1998-01-12"},"entity_type":"gene","entity_name":"KCNQ2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Children's Hospital Neurology Department","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental 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This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TM7LN4","TM7XN1"],"biotype":"protein_coding","hgnc_id":"HGNC:4512","gene_name":"adhesion G protein-coupled receptor G1","omim_gene":["604110"],"alias_name":null,"gene_symbol":"ADGRG1","hgnc_symbol":"ADGRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:57644564-57698944","ensembl_id":"ENSG00000205336"}},"GRch38":{"90":{"location":"16:57610652-57665580","ensembl_id":"ENSG00000205336"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Expert list","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Polymicrogyria, Frontoparietal, 606854","Polymicrogyria, perisylvian type, 615752"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4006","gene_name":"alpha-L-fucosidase 1","omim_gene":["612280"],"alias_name":["α-L-fucosidase 1","tissue fucosidase","a-L-fucosidase 1"],"gene_symbol":"FUCA1","hgnc_symbol":"FUCA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:24171567-24194784","ensembl_id":"ENSG00000179163"}},"GRch38":{"90":{"location":"1:23845077-23868294","ensembl_id":"ENSG00000179163"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FUCA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31064022"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Fucosidosis, MIM#230000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"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":["PR01238","GRX5"],"biotype":"protein_coding","hgnc_id":"HGNC:20134","gene_name":"glutaredoxin 5","omim_gene":["609588"],"alias_name":null,"gene_symbol":"GLRX5","hgnc_symbol":"GLRX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:95999840-96011061","ensembl_id":"ENSG00000182512"}},"GRch38":{"90":{"location":"14:95533503-95544724","ensembl_id":"ENSG00000182512"}}},"hgnc_date_symbol_changed":"2005-11-11"},"entity_type":"gene","entity_name":"GLRX5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 24334290","30770271"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spasticity, childhood-onset, with hyperglycinemia\t616859"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"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":null},{"gene_data":{"alias":["ARC92","ACID1","TCBAP0758","DKFZp434K0512"],"biotype":"protein_coding","hgnc_id":"HGNC:28845","gene_name":"mediator complex subunit 25","omim_gene":["610197"],"alias_name":null,"gene_symbol":"MED25","hgnc_symbol":"MED25","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50321539-50342073","ensembl_id":"ENSG00000104973"}},"GRch38":{"90":{"location":"19:49818279-49838816","ensembl_id":"ENSG00000104973"}}},"hgnc_date_symbol_changed":"2004-11-09"},"entity_type":"gene","entity_name":"MED25","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["19290556","30039206"],"evidence":["Victorian Clinical Genetics Services","Expert list","Expert Review Red","Expert Review Green","Expert Review Green","Expert Review Red","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Charcot-Marie-Tooth disease, type 2B2\tMIM#605589"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"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":["KIAA1001"],"biotype":"protein_coding","hgnc_id":"HGNC:24102","gene_name":"arylsulfatase G","omim_gene":["610008"],"alias_name":null,"gene_symbol":"ARSG","hgnc_symbol":"ARSG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:66255323-66418872","ensembl_id":"ENSG00000141337"}},"GRch38":{"90":{"location":"17:68259182-68422731","ensembl_id":"ENSG00000141337"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"ARSG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29300381","20679209","25452429","26975023","33300174","32455177"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Usher syndrome, type IV, 618144"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3086,"hash_id":null,"name":"Usher Syndrome","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Deafness_IsolatedAndComplex and Retinal Disorders panels if findings are not specific, and a wider differential is considered, including the possibility of dual diagnosis.","status":"public","version":"1.5","version_created":"2023-01-15T18:08:18.097118+11:00","relevant_disorders":["Usher syndrome","MONDO:0019501"],"stats":{"number_of_genes":20,"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":["DPC4"],"biotype":"protein_coding","hgnc_id":"HGNC:6770","gene_name":"SMAD family member 4","omim_gene":["600993"],"alias_name":null,"gene_symbol":"SMAD4","hgnc_symbol":"SMAD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:48494410-48611415","ensembl_id":"ENSG00000141646"}},"GRch38":{"90":{"location":"18:51028394-51085045","ensembl_id":"ENSG00000141646"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["21898662"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Pulmonary arterial hypertension MONDO:0015924, SMAD4-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["disputed"],"panel":{"id":3095,"hash_id":null,"name":"Pulmonary Arterial Hypertension","disease_group":"Cardiovascular 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It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.","status":"public","version":"1.57","version_created":"2026-04-07T13:46:27.864798+10:00","relevant_disorders":["Pulmonary arterial hypertension","HP:0002092"],"stats":{"number_of_genes":37,"number_of_strs":0,"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":[]},{"gene_data":{"alias":["ISA2"],"biotype":"protein_coding","hgnc_id":"HGNC:19857","gene_name":"iron-sulfur cluster assembly 2","omim_gene":["615317"],"alias_name":null,"gene_symbol":"ISCA2","hgnc_symbol":"ISCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74960423-74963809","ensembl_id":"ENSG00000165898"}},"GRch38":{"90":{"location":"14:74493720-74497106","ensembl_id":"ENSG00000165898"}}},"hgnc_date_symbol_changed":"2007-01-18"},"entity_type":"gene","entity_name":"ISCA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp761H079","JBTS8"],"biotype":"protein_coding","hgnc_id":"HGNC:25419","gene_name":"ADP ribosylation factor like GTPase 13B","omim_gene":["608922"],"alias_name":null,"gene_symbol":"ARL13B","hgnc_symbol":"ARL13B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:93698983-93774512","ensembl_id":"ENSG00000169379"}},"GRch38":{"90":{"location":"3:93980139-94055668","ensembl_id":"ENSG00000169379"}}},"hgnc_date_symbol_changed":"2005-11-18"},"entity_type":"gene","entity_name":"ARL13B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 8, 612291 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1395","ZIR1"],"biotype":"protein_coding","hgnc_id":"HGNC:19189","gene_name":"dedicator of cytokinesis 6","omim_gene":["614194"],"alias_name":null,"gene_symbol":"DOCK6","hgnc_symbol":"DOCK6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:11309971-11373157","ensembl_id":"ENSG00000130158"}},"GRch38":{"90":{"location":"19:11199295-11262481","ensembl_id":"ENSG00000130158"}}},"hgnc_date_symbol_changed":"2003-11-19"},"entity_type":"gene","entity_name":"DOCK6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Adams-Oliver syndrome 2, 614219 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNASE6PL","FLJ10907","bA514O12.3"],"biotype":"protein_coding","hgnc_id":"HGNC:21686","gene_name":"ribonuclease T2","omim_gene":["612944"],"alias_name":null,"gene_symbol":"RNASET2","hgnc_symbol":"RNASET2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:167342992-167370679","ensembl_id":"ENSG00000026297"}},"GRch38":{"90":{"location":"6:166929504-166957191","ensembl_id":"ENSG00000026297"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"RNASET2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DPC4"],"biotype":"protein_coding","hgnc_id":"HGNC:6770","gene_name":"SMAD family member 4","omim_gene":["600993"],"alias_name":null,"gene_symbol":"SMAD4","hgnc_symbol":"SMAD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:48494410-48611415","ensembl_id":"ENSG00000141646"}},"GRch38":{"90":{"location":"18:51028394-51085045","ensembl_id":"ENSG00000141646"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome  175050"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3144,"hash_id":null,"name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.","status":"public","version":"1.12","version_created":"2026-01-22T10:52:30.127872+11:00","relevant_disorders":["Abnormal cerebral vascular morphology HP:0100659"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PXAAA1","PAF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:8859","gene_name":"peroxisomal biogenesis factor 6","omim_gene":["601498"],"alias_name":null,"gene_symbol":"PEX6","hgnc_symbol":"PEX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42931608-42946958","ensembl_id":"ENSG00000124587"}},"GRch38":{"90":{"location":"6:42963870-42979220","ensembl_id":"ENSG00000124587"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32399598","31555682"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Perrault syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CDGS","CDG1a","PMI","PMI1"],"biotype":"protein_coding","hgnc_id":"HGNC:9115","gene_name":"phosphomannomutase 2","omim_gene":["601785"],"alias_name":["phosphomannose isomerase 1","mannose-6-phosphate isomerase"],"gene_symbol":"PMM2","hgnc_symbol":"PMM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8882680-8943188","ensembl_id":"ENSG00000140650"}},"GRch38":{"90":{"location":"16:8788823-8849331","ensembl_id":"ENSG00000140650"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PMM2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["28954837","33388235"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital disorder of glycosylation, type Ia, MIM# 212065","hypotonia","intellectual disability","cerebellar signs","pericarditis","cardiomyopathy","cardiac malformation","chronic diarrhoea","protein-losing enteropathy","ascites","cover failure","nephrotic syndrome","hydros"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"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":["CMD1I","CSM1","CSM2"],"biotype":"protein_coding","hgnc_id":"HGNC:2770","gene_name":"desmin","omim_gene":["125660"],"alias_name":["intermediate filament protein"],"gene_symbol":"DES","hgnc_symbol":"DES","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220283099-220291461","ensembl_id":"ENSG00000175084"}},"GRch38":{"90":{"location":"2:219418377-219426739","ensembl_id":"ENSG00000175084"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DES","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene","BabySeq Category A gene"],"phenotypes":["Cardiomyopathy, dilated","Myopathy, myofibrillar"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TIN2"],"biotype":"protein_coding","hgnc_id":"HGNC:11824","gene_name":"TERF1 interacting nuclear factor 2","omim_gene":["604319"],"alias_name":null,"gene_symbol":"TINF2","hgnc_symbol":"TINF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:24708849-24711880","ensembl_id":"ENSG00000092330"}},"GRch38":{"90":{"location":"14:24239643-24242674","ensembl_id":"ENSG00000092330"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"TINF2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Dyskeratosis congenita"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["H2","H3","H4","H5","CEK","FLG","BFGFR","N-SAM","CD331"],"biotype":"protein_coding","hgnc_id":"HGNC:3688","gene_name":"fibroblast growth factor receptor 1","omim_gene":["136350"],"alias_name":["Pfeiffer syndrome"],"gene_symbol":"FGFR1","hgnc_symbol":"FGFR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38268656-38326352","ensembl_id":"ENSG00000077782"}},"GRch38":{"90":{"location":"8:38411138-38468834","ensembl_id":"ENSG00000077782"}}},"hgnc_date_symbol_changed":"1992-02-25"},"entity_type":"gene","entity_name":"FGFR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Kallmann syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5173","gene_name":"HRas proto-oncogene, GTPase","omim_gene":["190020"],"alias_name":null,"gene_symbol":"HRAS","hgnc_symbol":"HRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}},"GRch38":{"90":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Costello syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"gene","entity_name":"NPHP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Nephronophthisis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TIP60","PLIP","cPLA2","HTATIP1","ESA1","ZC2HC5"],"biotype":"protein_coding","hgnc_id":"HGNC:5275","gene_name":"lysine acetyltransferase 5","omim_gene":["601409"],"alias_name":["Tat interacting protein, 60kDa","K-acetyltransferase 5"],"gene_symbol":"KAT5","hgnc_symbol":"KAT5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65479467-65487075","ensembl_id":"ENSG00000172977"}},"GRch38":{"90":{"location":"11:65711996-65719604","ensembl_id":"ENSG00000172977"}}},"hgnc_date_symbol_changed":"2008-07-04"},"entity_type":"gene","entity_name":"KAT5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32822602"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM #619103"],"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":[]},{"gene_data":{"alias":["OASIS"],"biotype":"protein_coding","hgnc_id":"HGNC:18856","gene_name":"cAMP responsive element binding protein 3 like 1","omim_gene":["616215"],"alias_name":["BBF-2 homolog (drosophila)"],"gene_symbol":"CREB3L1","hgnc_symbol":"CREB3L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:46299212-46342972","ensembl_id":"ENSG00000157613"}},"GRch38":{"90":{"location":"11:46277661-46321422","ensembl_id":"ENSG00000157613"}}},"hgnc_date_symbol_changed":"2003-12-09"},"entity_type":"gene","entity_name":"CREB3L1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CASIL"],"biotype":"protein_coding","hgnc_id":"HGNC:7883","gene_name":"notch 3","omim_gene":["600276"],"alias_name":null,"gene_symbol":"NOTCH3","hgnc_symbol":"NOTCH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:15270444-15311792","ensembl_id":"ENSG00000074181"}},"GRch38":{"90":{"location":"19:15159038-15200981","ensembl_id":"ENSG00000074181"}}},"hgnc_date_symbol_changed":"1994-07-04"},"entity_type":"gene","entity_name":"NOTCH3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DHPase"],"biotype":"protein_coding","hgnc_id":"HGNC:3013","gene_name":"dihydropyrimidinase","omim_gene":["613326"],"alias_name":null,"gene_symbol":"DPYS","hgnc_symbol":"DPYS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:105342552-105479281","ensembl_id":"ENSG00000147647"}},"GRch38":{"90":{"location":"8:104330324-104467053","ensembl_id":"ENSG00000147647"}}},"hgnc_date_symbol_changed":"1997-02-27"},"entity_type":"gene","entity_name":"DPYS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dihydropyrimidinuria MIM#222748","Disorders of pyrimidine metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PCLN1","HOMG3"],"biotype":"protein_coding","hgnc_id":"HGNC:2037","gene_name":"claudin 16","omim_gene":["603959"],"alias_name":["paracellin-1","hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"],"gene_symbol":"CLDN16","hgnc_symbol":"CLDN16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:190040330-190129932","ensembl_id":"ENSG00000113946"}},"GRch38":{"90":{"location":"3:190322541-190412143","ensembl_id":"ENSG00000113946"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"CLDN16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26426912, 16501001, 10878661"],"evidence":["Expert Review Green"],"phenotypes":["Disorders of magnesium metabolism","renal hypomagnesemia 3 MONDO:0009550"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3469,"hash_id":null,"name":"Metal Metabolism Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism.  \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.","status":"public","version":"0.54","version_created":"2026-02-17T14:35:14.331246+11:00","relevant_disorders":["Abnormality of iron homeostasis","HP:0011031;Abnormal blood transition element cation concentration","HP:0011030"],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:890","gene_name":"AU RNA binding methylglutaconyl-CoA hydratase","omim_gene":["600529"],"alias_name":null,"gene_symbol":"AUH","hgnc_symbol":"AUH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:93976097-94124195","ensembl_id":"ENSG00000148090"}},"GRch38":{"90":{"location":"9:91213815-91361913","ensembl_id":"ENSG00000148090"}}},"hgnc_date_symbol_changed":"1995-10-02"},"entity_type":"gene","entity_name":"AUH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["3-methylglutaconic aciduria, type I\t250950"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3470,"hash_id":null,"name":"Hyperammonaemia","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"0.10","version_created":"2023-03-02T14:41:08.610876+11:00","relevant_disorders":["Hyperammonaemia","HP:0001987"],"stats":{"number_of_genes":43,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AGAT"],"biotype":"protein_coding","hgnc_id":"HGNC:4175","gene_name":"glycine amidinotransferase","omim_gene":["602360"],"alias_name":["L-arginine:glycine amidinotransferase"],"gene_symbol":"GATM","hgnc_symbol":"GATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45653322-45694525","ensembl_id":"ENSG00000171766"}},"GRch38":{"90":{"location":"15:45361124-45402327","ensembl_id":"ENSG00000171766"}}},"hgnc_date_symbol_changed":"1998-02-20"},"entity_type":"gene","entity_name":"GATM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12468279","20682460","22386973"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Cerebral creatine deficiency syndrome 3, MIM# 612718"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11188","gene_name":"SOS Ras/Rho guanine nucleotide exchange factor 2","omim_gene":["601247"],"alias_name":null,"gene_symbol":"SOS2","hgnc_symbol":"SOS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50583847-50698276","ensembl_id":"ENSG00000100485"}},"GRch38":{"90":{"location":"14:50117120-50231558","ensembl_id":"ENSG00000100485"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"SOS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Noonan syndrome 9, 616559","Fetal hydrops"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SKR1","ALK2","ACVR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:171","gene_name":"activin A receptor type 1","omim_gene":["102576"],"alias_name":null,"gene_symbol":"ACVR1","hgnc_symbol":"ACVR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:158592958-158732374","ensembl_id":"ENSG00000115170"}},"GRch38":{"90":{"location":"2:157736444-157875862","ensembl_id":"ENSG00000115170"}}},"hgnc_date_symbol_changed":"1994-01-10"},"entity_type":"gene","entity_name":"ACVR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16642017","29089047"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Fibrodysplasia ossificans progressiva, MIM# 135100","Congenital heart disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["clinical trial"],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1074"],"biotype":"protein_coding","hgnc_id":"HGNC:29186","gene_name":"ankyrin repeat domain 26","omim_gene":["610855"],"alias_name":null,"gene_symbol":"ANKRD26","hgnc_symbol":"ANKRD26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27280843-27389421","ensembl_id":"ENSG00000107890"}},"GRch38":{"90":{"location":"10:26991914-27100498","ensembl_id":"ENSG00000107890"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"ANKRD26","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21211618"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Thrombocytopaenia 2, MIM# 188000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:28984","gene_name":"WASH complex subunit 5","omim_gene":["610657"],"alias_name":["strumpellin"],"gene_symbol":"WASHC5","hgnc_symbol":"WASHC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:126036502-126104082","ensembl_id":"ENSG00000164961"}},"GRch38":{"90":{"location":"8:125024260-125091840","ensembl_id":"ENSG00000164961"}}},"hgnc_date_symbol_changed":"2016-10-14"},"entity_type":"gene","entity_name":"WASHC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24065355"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Ritscher-Schinzel syndrome 1, MIM# 220210"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HIP4"],"biotype":"protein_coding","hgnc_id":"HGNC:1550","gene_name":"cystathionine-beta-synthase","omim_gene":["613381"],"alias_name":null,"gene_symbol":"CBS","hgnc_symbol":"CBS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:44473301-44497053","ensembl_id":"ENSG00000160200"}},"GRch38":{"90":{"location":"21:43053191-43076943","ensembl_id":"ENSG00000160200"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CBS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["7506602","10338090","7967489","27778219"],"evidence":["Expert Review Amber","Mackenzie's Mission"],"phenotypes":["Homocystinuria, B6-responsive and nonresponsive types, MIM#236200"],"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":["GLUT10"],"biotype":"protein_coding","hgnc_id":"HGNC:13444","gene_name":"solute carrier family 2 member 10","omim_gene":["606145"],"alias_name":null,"gene_symbol":"SLC2A10","hgnc_symbol":"SLC2A10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:45338126-45364965","ensembl_id":"ENSG00000197496"}},"GRch38":{"90":{"location":"20:46709487-46736347","ensembl_id":"ENSG00000197496"}}},"hgnc_date_symbol_changed":"2001-04-02"},"entity_type":"gene","entity_name":"SLC2A10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30071989","16550171","17935213","22116938"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Arterial tortuosity syndrome, 208050 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ412I7.1","FLJ37974","RSPH6B","CILD11"],"biotype":"protein_coding","hgnc_id":"HGNC:21558","gene_name":"radial spoke head 4 homolog A","omim_gene":["612647"],"alias_name":null,"gene_symbol":"RSPH4A","hgnc_symbol":"RSPH4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:116937642-116954148","ensembl_id":"ENSG00000111834"}},"GRch38":{"90":{"location":"6:116616479-116632985","ensembl_id":"ENSG00000111834"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RSPH4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19200523","23993197","23798057","22448264"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 11, MIM# 612649"],"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":["KIAA1385"],"biotype":"protein_coding","hgnc_id":"HGNC:15465","gene_name":"gephyrin","omim_gene":["603930"],"alias_name":null,"gene_symbol":"GPHN","hgnc_symbol":"GPHN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:66974125-67648520","ensembl_id":"ENSG00000171723"}},"GRch38":{"90":{"location":"14:66507407-67181803","ensembl_id":"ENSG00000171723"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"GPHN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22040219","11095995","12754701"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Molybdenum cofactor deficiency C, 615501 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ32753","RSP44","RSPH10A","CILD24"],"biotype":"protein_coding","hgnc_id":"HGNC:12371","gene_name":"radial spoke head 1 homolog","omim_gene":["609314"],"alias_name":["meichroacidin"],"gene_symbol":"RSPH1","hgnc_symbol":"RSPH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:43892596-43916464","ensembl_id":"ENSG00000160188"}},"GRch38":{"90":{"location":"21:42472486-42496354","ensembl_id":"ENSG00000160188"}}},"hgnc_date_symbol_changed":"2007-06-25"},"entity_type":"gene","entity_name":"RSPH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23993197","24568568"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 24 MIM#615481"],"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":["PCN","PLTN"],"biotype":"protein_coding","hgnc_id":"HGNC:9069","gene_name":"plectin","omim_gene":["601282"],"alias_name":null,"gene_symbol":"PLEC","hgnc_symbol":"PLEC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:144989321-145050902","ensembl_id":"ENSG00000178209"}},"GRch38":{"90":{"location":"8:143915147-143976734","ensembl_id":"ENSG00000178209"}}},"hgnc_date_symbol_changed":"2010-02-04"},"entity_type":"gene","entity_name":"PLEC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28447722","25556389","32576226"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, MIM# 616487","Epidermolysis bullosa simplex 5B, with muscular dystrophy, MIM# 226670","Epidermolysis bullosa simplex 5C, with pyloric atresia MIM# 612138","Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723"],"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":["PH2"],"biotype":"protein_coding","hgnc_id":"HGNC:4570","gene_name":"glyoxylate and hydroxypyruvate reductase","omim_gene":["604296"],"alias_name":["primary hyperoxaluria type 2"],"gene_symbol":"GRHPR","hgnc_symbol":"GRHPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:37422663-37436987","ensembl_id":"ENSG00000137106"}},"GRch38":{"90":{"location":"9:37422666-37436990","ensembl_id":"ENSG00000137106"}}},"hgnc_date_symbol_changed":"1999-03-26"},"entity_type":"gene","entity_name":"GRHPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24116921"],"evidence":["Expert Review Green","Other"],"phenotypes":["primary hyperoxaluria type 2 MONDO:0009824","Disorders of glyoxylate and oxalate metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4341","gene_name":"glutamate-ammonia ligase","omim_gene":["138290"],"alias_name":["glutamine synthetase"],"gene_symbol":"GLUL","hgnc_symbol":"GLUL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:182350839-182361341","ensembl_id":"ENSG00000135821"}},"GRch38":{"90":{"location":"1:182381704-182392206","ensembl_id":"ENSG00000135821"}}},"hgnc_date_symbol_changed":"1988-11-30"},"entity_type":"gene","entity_name":"GLUL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25870278","20140959","30053506"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSP78","SKD3","FLJ13152","ANKCLB"],"biotype":"protein_coding","hgnc_id":"HGNC:30664","gene_name":"ClpB homolog, mitochondrial AAA ATPase chaperonin","omim_gene":["616254"],"alias_name":["suppressor of potassium transport defect 3","ankyrin-repeat containing bacterial clp fusion"],"gene_symbol":"CLPB","hgnc_symbol":"CLPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:72003469-72145692","ensembl_id":"ENSG00000162129"}},"GRch38":{"90":{"location":"11:72292425-72434680","ensembl_id":"ENSG00000162129"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"CLPB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29152456","25597510","34140661"],"evidence":["Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561","3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7525","gene_name":"muscle associated receptor tyrosine kinase","omim_gene":["601296"],"alias_name":null,"gene_symbol":"MUSK","hgnc_symbol":"MUSK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:113431051-113563859","ensembl_id":"ENSG00000030304"}},"GRch38":{"90":{"location":"9:110668771-110801620","ensembl_id":"ENSG00000030304"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"MUSK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS:BabySeq Category A gene"],"phenotypes":["Congenital myasthenic syndrome, MIM#616325"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","neurological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P450c21B","CA21H","CPS1","CAH1"],"biotype":"protein_coding","hgnc_id":"HGNC:2600","gene_name":"cytochrome P450 family 21 subfamily A member 2","omim_gene":["613815"],"alias_name":["Steroid 21-monooxygenase"],"gene_symbol":"CYP21A2","hgnc_symbol":"CYP21A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:32006042-32009447","ensembl_id":"ENSG00000231852"}},"GRch38":{"90":{"location":"6:32038265-32041670","ensembl_id":"ENSG00000231852"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYP21A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11397897","12930931","12915679"],"evidence":["Expert Review Green","Expert list","Expert list","Expert Review Green","KidGen_MetabolicRenal v38.1.0","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910","Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CaT1"],"biotype":"protein_coding","hgnc_id":"HGNC:14006","gene_name":"transient receptor potential cation channel subfamily V member 6","omim_gene":["606680"],"alias_name":null,"gene_symbol":"TRPV6","hgnc_symbol":"TRPV6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:142568956-142583507","ensembl_id":"ENSG00000165125"}},"GRch38":{"90":{"location":"7:142871203-142885762","ensembl_id":"ENSG00000165125"}}},"hgnc_date_symbol_changed":"2002-02-01"},"entity_type":"gene","entity_name":"TRPV6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29861107"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyperparathyroidism, transient neonatal, MIM# 618188"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AQDQ","CI-18"],"biotype":"protein_coding","hgnc_id":"HGNC:7711","gene_name":"NADH:ubiquinone oxidoreductase subunit S4","omim_gene":["602694"],"alias_name":["complex I 18kDa subunit"],"gene_symbol":"NDUFS4","hgnc_symbol":"NDUFS4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:52856463-52979168","ensembl_id":"ENSG00000164258"}},"GRch38":{"90":{"location":"5:53560633-53683340","ensembl_id":"ENSG00000164258"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"NDUFS4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 1, MIM#252010"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDC2"],"biotype":"protein_coding","hgnc_id":"HGNC:9175","gene_name":"DNA polymerase delta 1, catalytic subunit","omim_gene":["174761"],"alias_name":["CDC2 homolog (S. cerevisiae)"],"gene_symbol":"POLD1","hgnc_symbol":"POLD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50887461-50921273","ensembl_id":"ENSG00000062822"}},"GRch38":{"90":{"location":"19:50384204-50418018","ensembl_id":"ENSG00000062822"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351","POLD1-associated polyposis, MIM#612591"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4371,"hash_id":null,"name":"Colorectal Cancer and Polyposis","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.4","version_created":"2025-11-20T12:31:46.390137+11:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RPX","ANF"],"biotype":"protein_coding","hgnc_id":"HGNC:4877","gene_name":"HESX homeobox 1","omim_gene":["601802"],"alias_name":null,"gene_symbol":"HESX1","hgnc_symbol":"HESX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57231944-57260549","ensembl_id":"ENSG00000163666"}},"GRch38":{"90":{"location":"3:57197843-57226521","ensembl_id":"ENSG00000163666"}}},"hgnc_date_symbol_changed":"1998-11-19"},"entity_type":"gene","entity_name":"HESX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14561704","26781211","11136712","16940453"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Growth hormone deficiency with pituitary anomalies (182230)","Pituitary hormone deficiency, combined, 5 (182230)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.111","version_created":"2026-04-04T15:37:44.052003+11:00","relevant_disorders":[],"stats":{"number_of_genes":83,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CATCH22"],"biotype":"protein_coding","hgnc_id":"HGNC:11592","gene_name":"T-box 1","omim_gene":["602054"],"alias_name":null,"gene_symbol":"TBX1","hgnc_symbol":"TBX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:19744226-19771116","ensembl_id":"ENSG00000184058"}},"GRch38":{"90":{"location":"22:19756703-19783593","ensembl_id":"ENSG00000184058"}}},"hgnc_date_symbol_changed":"1997-05-15"},"entity_type":"str","entity_name":"TBX1_TOF_GCN","confidence_level":"3","penetrance":null,"publications":["19948535","11748311"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Tetralogy of Fallot MIM#187500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GCN","chromosome":"22","grch37_coordinates":[19754285,19754330],"grch38_coordinates":[19766762,19766807],"normal_repeats":15,"pathogenic_repeats":25,"tags":["paediatric-onset"],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"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":[]}}]}