{"count":36052,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=209","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=207","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4612","gene_name":"goosecoid homeobox","omim_gene":["138890"],"alias_name":null,"gene_symbol":"GSC","hgnc_symbol":"GSC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:95234553-95236562","ensembl_id":"ENSG00000133937"}},"GRch38":{"90":{"location":"14:94768216-94770230","ensembl_id":"ENSG00000133937"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"GSC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 24290375"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities - MIM#602471"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. 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The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne 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If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPAF","AFG2"],"biotype":"protein_coding","hgnc_id":"HGNC:18119","gene_name":"spermatogenesis associated 5","omim_gene":["613940"],"alias_name":["ATPase family gene 2 homolog (S. cerevisiae)"],"gene_symbol":"SPATA5","hgnc_symbol":"SPATA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:123844229-124240605","ensembl_id":"ENSG00000145375"}},"GRch38":{"90":{"location":"4:122923074-123319450","ensembl_id":"ENSG00000145375"}}},"hgnc_date_symbol_changed":"2002-02-04"},"entity_type":"gene","entity_name":"SPATA5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne 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phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1284"],"biotype":"protein_coding","hgnc_id":"HGNC:29239","gene_name":"inturned planar cell polarity 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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":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["TFEA","bHLHe33"],"biotype":"protein_coding","hgnc_id":"HGNC:11752","gene_name":"transcription factor binding to IGHM enhancer 3","omim_gene":["314310"],"alias_name":null,"gene_symbol":"TFE3","hgnc_symbol":"TFE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48886242-48901012","ensembl_id":"ENSG00000068323"}},"GRch38":{"90":{"location":"X:49028726-49043486","ensembl_id":"ENSG00000068323"}}},"hgnc_date_symbol_changed":"1990-10-16"},"entity_type":"gene","entity_name":"TFE3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30595499","31833172","33057194","32409512"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066","Intellectual disability","Epilepsy","Coarse facial features"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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:7582","gene_name":"myosin light chain 1","omim_gene":["160780"],"alias_name":null,"gene_symbol":"MYL1","hgnc_symbol":"MYL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:211154874-211179914","ensembl_id":"ENSG00000168530"}},"GRch38":{"90":{"location":"2:210290150-210315190","ensembl_id":"ENSG00000168530"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MYL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30215711","40488356"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["CDR","ETO","MTG8","ZMYND2"],"biotype":"protein_coding","hgnc_id":"HGNC:1535","gene_name":"RUNX1 translocation partner 1","omim_gene":["133435"],"alias_name":null,"gene_symbol":"RUNX1T1","hgnc_symbol":"RUNX1T1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:92967203-93115514","ensembl_id":"ENSG00000079102"}},"GRch38":{"90":{"location":"8:91954967-92103286","ensembl_id":"ENSG00000079102"}}},"hgnc_date_symbol_changed":"2005-01-22"},"entity_type":"gene","entity_name":"RUNX1T1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39568205","19172993","22644616","31223340"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, RUNX1T1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["DKFZp686L20145","RPH11","RAB11BP","SYM-4"],"biotype":"protein_coding","hgnc_id":"HGNC:30512","gene_name":"WD repeat domain 44","omim_gene":null,"alias_name":null,"gene_symbol":"WDR44","hgnc_symbol":"WDR44","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:117480036-117583924","ensembl_id":"ENSG00000131725"}},"GRch38":{"90":{"location":"X:118346073-118449961","ensembl_id":"ENSG00000131725"}}},"hgnc_date_symbol_changed":"2004-09-02"},"entity_type":"gene","entity_name":"WDR44","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38191484"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliopathy, MONDO:0005308, WDR44-related"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["KIAA1351","FLJ10506","WDR15","HH14","DR11","SRI1"],"biotype":"protein_coding","hgnc_id":"HGNC:13831","gene_name":"WD repeat domain 11","omim_gene":["606417"],"alias_name":["sensitization to ricin complex subunit 1"],"gene_symbol":"WDR11","hgnc_symbol":"WDR11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:122610687-122669036","ensembl_id":"ENSG00000120008"}},"GRch38":{"90":{"location":"10:120851175-120909524","ensembl_id":"ENSG00000120008"}}},"hgnc_date_symbol_changed":"2010-01-06"},"entity_type":"gene","entity_name":"WDR11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34413497"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 78, MIM# 620237","Intellectual disability","Microcephaly","Short stature"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CEN3"],"biotype":"protein_coding","hgnc_id":"HGNC:1868","gene_name":"centrin 3","omim_gene":["602907"],"alias_name":["CDC31 yeast homolog","EF-hand superfamily member"],"gene_symbol":"CETN3","hgnc_symbol":"CETN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:89688078-89705603","ensembl_id":"ENSG00000153140"}},"GRch38":{"90":{"location":"5:90392261-90409786","ensembl_id":"ENSG00000153140"}}},"hgnc_date_symbol_changed":"1997-08-22"},"entity_type":"gene","entity_name":"CETN3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40926052"],"evidence":["Expert Review Red","Literature"],"phenotypes":["microcephaly, MONDO:0001149, CETN3-related"],"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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["30214071","29056561","23928670"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Bloom syndrome\t(MIM#210900)"],"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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27323706"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies."],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1616","LTRPC3","GON-2"],"biotype":"protein_coding","hgnc_id":"HGNC:17992","gene_name":"transient receptor potential cation channel subfamily M member 3","omim_gene":["608961"],"alias_name":["melastatin 2"],"gene_symbol":"TRPM3","hgnc_symbol":"TRPM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:73143979-74061820","ensembl_id":"ENSG00000083067"}},"GRch38":{"90":{"location":"9:70529063-71446904","ensembl_id":"ENSG00000083067"}}},"hgnc_date_symbol_changed":"2002-01-11"},"entity_type":"gene","entity_name":"TRPM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31278393"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MICAL","FLJ11937","DKFZp434B1517","FLJ21739"],"biotype":"protein_coding","hgnc_id":"HGNC:20619","gene_name":"microtubule associated monooxygenase, calponin and LIM domain containing 1","omim_gene":["607129"],"alias_name":["protein-methionine sulfoxide oxidase MICAL1"],"gene_symbol":"MICAL1","hgnc_symbol":"MICAL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:109765265-109787171","ensembl_id":"ENSG00000135596"}},"GRch38":{"90":{"location":"6:109444062-109465968","ensembl_id":"ENSG00000135596"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MICAL1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29394500","21638339","38705457"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Autosomal dominant epilepsy with auditory features (ADEAF)"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"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":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154","Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28031252","31411514","22036843","20819849","11220739","23266820","31411514"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["FLJ32731","HGNAT"],"biotype":"protein_coding","hgnc_id":"HGNC:26527","gene_name":"heparan-alpha-glucosaminide N-acetyltransferase","omim_gene":["610453"],"alias_name":null,"gene_symbol":"HGSNAT","hgnc_symbol":"HGSNAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42995556-43057998","ensembl_id":"ENSG00000165102"}},"GRch38":{"90":{"location":"8:43140455-43202855","ensembl_id":"ENSG00000165102"}}},"hgnc_date_symbol_changed":"2006-08-16"},"entity_type":"gene","entity_name":"HGSNAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19479962","31228227","20825431","20583299"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930","MONDO:0009657"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MUC-24","MGC-24","DFNA66"],"biotype":"protein_coding","hgnc_id":"HGNC:1632","gene_name":"CD164 molecule","omim_gene":["603356"],"alias_name":["deafness, autosomal dominant 66"],"gene_symbol":"CD164","hgnc_symbol":"CD164","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:109687717-109703762","ensembl_id":"ENSG00000135535"}},"GRch38":{"90":{"location":"6:109366514-109382457","ensembl_id":"ENSG00000135535"}}},"hgnc_date_symbol_changed":"2000-06-08"},"entity_type":"gene","entity_name":"CD164","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26197441","35254497","26197441"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Deafness, autosomal dominant 66, MIM#\t616969"],"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":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:15631","gene_name":"toll like receptor 7","omim_gene":["300365"],"alias_name":null,"gene_symbol":"TLR7","hgnc_symbol":"TLR7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:12885202-12908499","ensembl_id":"ENSG00000196664"}},"GRch38":{"90":{"location":"X:12867083-12890380","ensembl_id":"ENSG00000196664"}}},"hgnc_date_symbol_changed":"2001-04-27"},"entity_type":"gene","entity_name":"TLR7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32706371","35708626"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 74, COVID-19-related, X-linked MONDO:0026767"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":231,"hash_id":null,"name":"Defects of intrinsic and innate immunity","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\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":"1.39","version_created":"2026-04-15T16:26:05.053680+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"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":[]},{"gene_data":{"alias":["NE","HNE","HLE"],"biotype":"protein_coding","hgnc_id":"HGNC:3309","gene_name":"elastase, neutrophil expressed","omim_gene":["130130"],"alias_name":["neutrophil elastase","leukocyte elastase","medullasin"],"gene_symbol":"ELANE","hgnc_symbol":"ELANE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:851014-856242","ensembl_id":"ENSG00000197561"}},"GRch38":{"90":{"location":"19:851014-856247","ensembl_id":"ENSG00000197561"}}},"hgnc_date_symbol_changed":"2009-05-05"},"entity_type":"gene","entity_name":"ELANE","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":["33968054","3124897"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Neutropenia, cyclic MIM#162800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":238,"hash_id":null,"name":"Autoinflammatory Disorders","disease_group":"Immunological 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HP:0033428"],"stats":{"number_of_genes":108,"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":[]},{"gene_data":{"alias":["FAE"],"biotype":"protein_coding","hgnc_id":"HGNC:3586","gene_name":"Fanconi anemia complementation group 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This set of genes is used in UMCCR WTS report \"HRD genes\" section\r\n\r\nSource: -\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.45","version_created":"2025-11-03T15:31:09.278966+11:00","relevant_disorders":[],"stats":{"number_of_genes":36,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1639","gene_name":"CD2 molecule","omim_gene":["186990"],"alias_name":null,"gene_symbol":"CD2","hgnc_symbol":"CD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:117297007-117311850","ensembl_id":"ENSG00000116824"}},"GRch38":{"90":{"location":"1:116754385-116769228","ensembl_id":"ENSG00000116824"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["umccr"],"panel":{"id":243,"hash_id":null,"name":"Immune_markers_WTS_UMCCR","disease_group":"Cancer","disease_sub_group":"","description":"Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of immune markers used to assess pre-existing anti-cancer immunity and likelihood of response to immunotherapy. This set of genes is used in UMCCR WTS report \"Immune markers\" section\r\n\r\nSource: https://www.omniseq.com\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.77","version_created":"2025-11-03T15:30:48.145923+11:00","relevant_disorders":[],"stats":{"number_of_genes":71,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0559","DKFZp779G1236","ACZ"],"biotype":"protein_coding","hgnc_id":"HGNC:13406","gene_name":"piccolo presynaptic cytomatrix protein","omim_gene":["604918"],"alias_name":["aczonin"],"gene_symbol":"PCLO","hgnc_symbol":"PCLO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:82383329-82792246","ensembl_id":"ENSG00000186472"}},"GRch38":{"90":{"location":"7:82754013-83162930","ensembl_id":"ENSG00000186472"}}},"hgnc_date_symbol_changed":"2001-06-25"},"entity_type":"gene","entity_name":"PCLO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25832664","40661989","32122952","30287594"],"evidence":["Expert Review Green","Genetic Health Queensland","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia, type 3, MIM#608027"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0733"],"biotype":"protein_coding","hgnc_id":"HGNC:17075","gene_name":"TGF-beta activated kinase 1/MAP3K7 binding protein 2","omim_gene":["605101"],"alias_name":null,"gene_symbol":"TAB2","hgnc_symbol":"TAB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:149539777-149732749","ensembl_id":"ENSG00000055208"}},"GRch38":{"90":{"location":"6:149218641-149411613","ensembl_id":"ENSG00000055208"}}},"hgnc_date_symbol_changed":"2010-02-05"},"entity_type":"gene","entity_name":"TAB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35971781"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital heart defects, multiple types, 2 MONDO:0014000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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neuropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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 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PLA2"],"gene_symbol":"PLA2G16","hgnc_symbol":"PLA2G16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:63340667-63384355","ensembl_id":"ENSG00000176485"}},"GRch38":{"90":{"location":"11:63573195-63616883","ensembl_id":"ENSG00000176485"}}},"hgnc_date_symbol_changed":"2008-09-19"},"entity_type":"gene","entity_name":"PLA2G16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37919452"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lipodystrophy, familial partial, type 9, MIM# 620683"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":null},{"gene_data":{"alias":["KIAA0036","NPHP5","SLSN5"],"biotype":"protein_coding","hgnc_id":"HGNC:28949","gene_name":"IQ motif containing B1","omim_gene":["609237"],"alias_name":["nephrocystin-5"],"gene_symbol":"IQCB1","hgnc_symbol":"IQCB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:121488610-121553926","ensembl_id":"ENSG00000173226"}},"GRch38":{"90":{"location":"3:121769763-121835079","ensembl_id":"ENSG00000173226"}}},"hgnc_date_symbol_changed":"2004-03-05"},"entity_type":"gene","entity_name":"IQCB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15723066","21220633","20881296","21901789","33512896","33535056","29219953"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Leber congenital amaurosis","Senior-Loken syndrome 5, MIM# 609254","MONDO:0012225"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"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":["ADCAD2"],"biotype":"protein_coding","hgnc_id":"HGNC:6698","gene_name":"LDL receptor related protein 6","omim_gene":["603507"],"alias_name":null,"gene_symbol":"LRP6","hgnc_symbol":"LRP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:12268959-12419946","ensembl_id":"ENSG00000070018"}},"GRch38":{"90":{"location":"12:12116025-12267012","ensembl_id":"ENSG00000070018"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34896607"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Exudative vitreoretinopathy 8, MIM#\t621268"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3113,"hash_id":null,"name":"Vitreoretinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This is a consensus panel between VCGS and RMH.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"1.9","version_created":"2025-09-25T12:27:18.666129+10:00","relevant_disorders":["Abnormal posterior eye segment morphology","HP:0004329"],"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":[]},{"gene_data":{"alias":["FALDH"],"biotype":"protein_coding","hgnc_id":"HGNC:403","gene_name":"aldehyde dehydrogenase 3 family member A2","omim_gene":["609523"],"alias_name":["fatty aldehyde dehydrogenase"],"gene_symbol":"ALDH3A2","hgnc_symbol":"ALDH3A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:19551449-19580911","ensembl_id":"ENSG00000072210"}},"GRch38":{"90":{"location":"17:19648136-19677598","ensembl_id":"ENSG00000072210"}}},"hgnc_date_symbol_changed":"1996-06-14"},"entity_type":"gene","entity_name":"ALDH3A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Sjogren-Larsson syndrome, 270200 (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":["KIAA0625","AOA2","Sen1"],"biotype":"protein_coding","hgnc_id":"HGNC:445","gene_name":"senataxin","omim_gene":["608465"],"alias_name":null,"gene_symbol":"SETX","hgnc_symbol":"SETX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135136743-135230372","ensembl_id":"ENSG00000107290"}},"GRch38":{"90":{"location":"9:132261356-132354985","ensembl_id":"ENSG00000107290"}}},"hgnc_date_symbol_changed":"2005-11-29"},"entity_type":"gene","entity_name":"SETX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 1, 606002 (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":["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":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Molybdenum cofactor deficiency C, 615501 (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":["RBCK2","XAP4","RNF54","ZRANB4","UBCE7IP3","HOIL1"],"biotype":"protein_coding","hgnc_id":"HGNC:15864","gene_name":"RANBP2-type and C3HC4-type zinc finger containing 1","omim_gene":["610924"],"alias_name":["heme-oxidized IRP2 ubiquitin ligase 1"],"gene_symbol":"RBCK1","hgnc_symbol":"RBCK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:388142-411610","ensembl_id":"ENSG00000125826"}},"GRch38":{"90":{"location":"20:407498-430966","ensembl_id":"ENSG00000125826"}}},"hgnc_date_symbol_changed":"2006-06-28"},"entity_type":"gene","entity_name":"RBCK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (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":["TRNS1"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7497","gene_name":"mitochondrially encoded tRNA serine 1 (UCN)","omim_gene":["590080"],"alias_name":null,"gene_symbol":"MT-TS1","hgnc_symbol":"MT-TS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:7446-7514","ensembl_id":"ENSG00000210151"}},"GRch38":{"90":{"location":"MT:7446-7514","ensembl_id":"ENSG00000210151"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7669057","9778262","14605505","23696415","33279600","7581383"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TS1-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16814","gene_name":"dachshund family transcription factor 2","omim_gene":["300608"],"alias_name":null,"gene_symbol":"DACH2","hgnc_symbol":"DACH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:85403462-86087607","ensembl_id":"ENSG00000126733"}},"GRch38":{"90":{"location":"X:86148458-86832604","ensembl_id":"ENSG00000126733"}}},"hgnc_date_symbol_changed":"2001-11-08"},"entity_type":"gene","entity_name":"DACH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15459172"],"evidence":["Expert Review Red","Genetic Health QLD"],"phenotypes":["Primary ovarian failure, MONDO:0005387, DACH2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RIS1","RIP1","UQCR5","RISP"],"biotype":"protein_coding","hgnc_id":"HGNC:12587","gene_name":"ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1","omim_gene":["191327"],"alias_name":["cytochrome b-c1 complex subunit 5"],"gene_symbol":"UQCRFS1","hgnc_symbol":"UQCRFS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:29698173-29704448","ensembl_id":"ENSG00000169021"}},"GRch38":{"90":{"location":"19:29205321-29213541","ensembl_id":"ENSG00000169021"}}},"hgnc_date_symbol_changed":"1993-09-20"},"entity_type":"gene","entity_name":"UQCRFS1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 31883641"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775","cardiomyopathy","thrombocytopenia","hypotonia"],"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":["ED5","EDA3","Edar","ED1R","EDA1R"],"biotype":"protein_coding","hgnc_id":"HGNC:2895","gene_name":"ectodysplasin A receptor","omim_gene":["604095"],"alias_name":null,"gene_symbol":"EDAR","hgnc_symbol":"EDAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:109510927-109605828","ensembl_id":"ENSG00000135960"}},"GRch38":{"90":{"location":"2:108894471-108989372","ensembl_id":"ENSG00000135960"}}},"hgnc_date_symbol_changed":"1999-08-09"},"entity_type":"gene","entity_name":"EDAR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ectodermal dysplasia, hypohidrotic"],"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":["AT-1","AT1"],"biotype":"protein_coding","hgnc_id":"HGNC:95","gene_name":"solute carrier family 33 member 1","omim_gene":["603690"],"alias_name":null,"gene_symbol":"SLC33A1","hgnc_symbol":"SLC33A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:155538813-155572218","ensembl_id":"ENSG00000169359"}},"GRch38":{"90":{"location":"3:155821024-155854429","ensembl_id":"ENSG00000169359"}}},"hgnc_date_symbol_changed":"2002-12-06"},"entity_type":"gene","entity_name":"SLC33A1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital cataracts, hearing loss and low serum copper and ceruloplasmin","Spastic paraplegia, autosomal dominant"],"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":["EPD","PDE"],"biotype":"protein_coding","hgnc_id":"HGNC:877","gene_name":"aldehyde dehydrogenase 7 family member A1","omim_gene":["107323"],"alias_name":["antiquitin 1","26g turgor protein homolog","alpha-aminoadipic semialdehyde dehydrogenase","alpha-AASA dehydrogenase","delta1-piperideine-6-carboxylate dehydrogenease","P6c dehydrogenase"],"gene_symbol":"ALDH7A1","hgnc_symbol":"ALDH7A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:125877533-125931110","ensembl_id":"ENSG00000164904"}},"GRch38":{"90":{"location":"5:126531200-126595418","ensembl_id":"ENSG00000164904"}}},"hgnc_date_symbol_changed":"1995-12-11"},"entity_type":"gene","entity_name":"ALDH7A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Epilepsy, pyridoxine-dependent, MIM#\t266100"],"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":[]},{"gene_data":{"alias":["FUCT1","FLJ11320"],"biotype":"protein_coding","hgnc_id":"HGNC:20197","gene_name":"solute carrier family 35 member C1","omim_gene":["605881"],"alias_name":null,"gene_symbol":"SLC35C1","hgnc_symbol":"SLC35C1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:45825623-45834566","ensembl_id":"ENSG00000181830"}},"GRch38":{"90":{"location":"11:45804072-45813015","ensembl_id":"ENSG00000181830"}}},"hgnc_date_symbol_changed":"2003-10-08"},"entity_type":"gene","entity_name":"SLC35C1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital disorder of glycosylation 2c"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2861","gene_name":"dihydrofolate reductase","omim_gene":["126060"],"alias_name":null,"gene_symbol":"DHFR","hgnc_symbol":"DHFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:79922047-79950802","ensembl_id":"ENSG00000228716"}},"GRch38":{"90":{"location":"5:80626228-80654983","ensembl_id":"ENSG00000228716"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DHFR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21310277","21310276"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH"],"phenotypes":["Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["beta3GalT6"],"biotype":"protein_coding","hgnc_id":"HGNC:17978","gene_name":"beta-1,3-galactosyltransferase 6","omim_gene":["615291"],"alias_name":["beta-1,3-galactosyltransferase-6"],"gene_symbol":"B3GALT6","hgnc_symbol":"B3GALT6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1167629-1170421","ensembl_id":"ENSG00000176022"}},"GRch38":{"90":{"location":"1:1232265-1235041","ensembl_id":"ENSG00000176022"}}},"hgnc_date_symbol_changed":"2002-01-09"},"entity_type":"gene","entity_name":"B3GALT6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":["SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES","Ehlers-Danlos syndrome, progeroid type, 2 615349","SEMDJL1"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JTK12","CD140b","PDGFR1"],"biotype":"protein_coding","hgnc_id":"HGNC:8804","gene_name":"platelet derived growth factor receptor beta","omim_gene":["173410"],"alias_name":null,"gene_symbol":"PDGFRB","hgnc_symbol":"PDGFRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149493400-149535435","ensembl_id":"ENSG00000113721"}},"GRch38":{"90":{"location":"5:150113837-150155872","ensembl_id":"ENSG00000113721"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PDGFRB","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":["LGR3"],"biotype":"protein_coding","hgnc_id":"HGNC:12373","gene_name":"thyroid stimulating hormone receptor","omim_gene":["603372"],"alias_name":null,"gene_symbol":"TSHR","hgnc_symbol":"TSHR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:81421333-81612646","ensembl_id":"ENSG00000165409"}},"GRch38":{"90":{"location":"14:80954989-81146302","ensembl_id":"ENSG00000165409"}}},"hgnc_date_symbol_changed":"1990-03-05"},"entity_type":"gene","entity_name":"TSHR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16060907 (Camilot et al., 2005 report subclinical hypothyroid subjects with heterozygous substitutions","22876533","7528344","PMID:17526952 (Kanda et al., 2006) examine Japanese patients homozygous and heterozygous for the R450H mutation in the TSHR gene. Homozygous subjects displayed mild hypothyroidism/ Heterozygous patients also demonstrated hypothyroidism, but less severe than that of homozygous subjects.","27525530 (Nicholas et al.,2016) identify a monogenic basis of disease.","PMID:14725684 (Park et al. 2004) suggest that heterozygosity for an inactivating TSHR mutation may be associated with compensated hypothyroidism and thyroid hypoplasia"],"evidence":["Genomics England PanelApp","Expert Review Green"],"phenotypes":["Hypothyroidism, congenital, nongoitrous, 1 275200","thyroid dysgenesis","Congenital hypothyroidism","thyroid hypoplasia","compensated hypothryoidism","subclinical hypothyroidism","Hypothyroidism, Congenital, Nongoitrous, 1, 275200","eutopic gland-in-situ","TSH resistance"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["YL8"],"biotype":"protein_coding","hgnc_id":"HGNC:9760","gene_name":"RAB11A, member RAS oncogene family","omim_gene":["605570"],"alias_name":null,"gene_symbol":"RAB11A","hgnc_symbol":"RAB11A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:66018392-66184329","ensembl_id":"ENSG00000103769"}},"GRch38":{"90":{"location":"15:65726054-65891991","ensembl_id":"ENSG00000103769"}}},"hgnc_date_symbol_changed":"1999-02-09"},"entity_type":"gene","entity_name":"RAB11A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29100083"],"evidence":["Expert Review Red","Genomics England PanelApp","Literature"],"phenotypes":["Epilepsy and intellectual disability"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACTSG"],"biotype":"protein_coding","hgnc_id":"HGNC:145","gene_name":"actin, gamma 2, smooth muscle, enteric","omim_gene":["102545"],"alias_name":null,"gene_symbol":"ACTG2","hgnc_symbol":"ACTG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74119441-74146992","ensembl_id":"ENSG00000163017"}},"GRch38":{"90":{"location":"2:73892314-73919865","ensembl_id":"ENSG00000163017"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"ACTG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["31070878","25998219","30712878"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PHAPII","2PP2A","IPP2A2"],"biotype":"protein_coding","hgnc_id":"HGNC:10760","gene_name":"SET nuclear proto-oncogene","omim_gene":["600960"],"alias_name":["protein phosphatase type 2A inhibitor","Template-Activating Factor-I, chromatin remodelling factor"],"gene_symbol":"SET","hgnc_symbol":"SET","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131445703-131458679","ensembl_id":"ENSG00000119335"}},"GRch38":{"90":{"location":"9:128683424-128696400","ensembl_id":"ENSG00000119335"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"SET","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Mental retardation, autosomal dominant 58, MIM#\t618106"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HTX","ZNF203"],"biotype":"protein_coding","hgnc_id":"HGNC:12874","gene_name":"Zic family member 3","omim_gene":["300265"],"alias_name":null,"gene_symbol":"ZIC3","hgnc_symbol":"ZIC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:136648301-136659850","ensembl_id":"ENSG00000156925"}},"GRch38":{"90":{"location":"X:137566142-137577691","ensembl_id":"ENSG00000156925"}}},"hgnc_date_symbol_changed":"1993-11-16"},"entity_type":"gene","entity_name":"ZIC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29442328","27406248","20452998"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955)","Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607)","VACTERL association, X-linked, MIM# 314390, MONDO:0010752"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["IKBKBBP","NIBP","KIAA1882","T1","TRS120","MRT13"],"biotype":"protein_coding","hgnc_id":"HGNC:30832","gene_name":"trafficking protein particle complex 9","omim_gene":["611966"],"alias_name":["TRAPP 120 kDa subunit","tularik gene 1"],"gene_symbol":"TRAPPC9","hgnc_symbol":"TRAPPC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:140742586-141468678","ensembl_id":"ENSG00000167632"}},"GRch38":{"90":{"location":"8:139730343-140458579","ensembl_id":"ENSG00000167632"}}},"hgnc_date_symbol_changed":"2008-05-07"},"entity_type":"gene","entity_name":"TRAPPC9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30853973"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 13 MIM#613192"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:15672","gene_name":"ALG9, alpha-1,2-mannosyltransferase","omim_gene":["606941"],"alias_name":["dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase","dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase","dol-P-Man dependent alpha-1,2-mannosyltransferase"],"gene_symbol":"ALG9","hgnc_symbol":"ALG9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111652919-111742305","ensembl_id":"ENSG00000086848"}},"GRch38":{"90":{"location":"11:111782195-111871581","ensembl_id":"ENSG00000086848"}}},"hgnc_date_symbol_changed":"2004-08-26"},"entity_type":"gene","entity_name":"ALG9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28932688","25966638","26453364","30676690","36326140"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type Il, 608776 (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":["IMAGE:4942737","DKFZp547D065","DMP4","G-CK"],"biotype":"protein_coding","hgnc_id":"HGNC:22140","gene_name":"FAM20C, golgi associated secretory pathway kinase","omim_gene":["611061"],"alias_name":["dentin matrix protein 4","golgi casein kinase"],"gene_symbol":"FAM20C","hgnc_symbol":"FAM20C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:192969-300711","ensembl_id":"ENSG00000177706"}},"GRch38":{"90":{"location":"7:192969-260745","ensembl_id":"ENSG00000177706"}}},"hgnc_date_symbol_changed":"2003-09-03"},"entity_type":"gene","entity_name":"FAM20C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19250384","32299476","20825432","33676444","32833257"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Raine syndrome MIM#259775"],"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":["GLOD2"],"biotype":"protein_coding","hgnc_id":"HGNC:16732","gene_name":"methylmalonyl-CoA epimerase","omim_gene":["608419"],"alias_name":["glyoxalase domain containing 2"],"gene_symbol":"MCEE","hgnc_symbol":"MCEE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:71336814-71357369","ensembl_id":"ENSG00000124370"}},"GRch38":{"90":{"location":"2:71109684-71130239","ensembl_id":"ENSG00000124370"}}},"hgnc_date_symbol_changed":"2001-10-03"},"entity_type":"gene","entity_name":"MCEE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Methylmalonyl-CoA epimerase deficiency MIM#251120"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":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 2","omim_gene":["609275"],"alias_name":null,"gene_symbol":"RAB3GAP2","hgnc_symbol":"RAB3GAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:220321635-220445796","ensembl_id":"ENSG00000118873"}},"GRch38":{"90":{"location":"1:220148293-220272454","ensembl_id":"ENSG00000118873"}}},"hgnc_date_symbol_changed":"2005-08-23"},"entity_type":"gene","entity_name":"RAB3GAP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16532399","20967465","23420520","32740904","32376645","24891604"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Warburg micro syndrome MONDO:0016649"],"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":["C2TA","NLRA"],"biotype":"protein_coding","hgnc_id":"HGNC:7067","gene_name":"class II major histocompatibility complex transactivator","omim_gene":["600005"],"alias_name":["NLR family, acid domain containing","nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"],"gene_symbol":"CIITA","hgnc_symbol":"CIITA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:10971055-11026079","ensembl_id":"ENSG00000179583"}},"GRch38":{"90":{"location":"16:10866222-10932281","ensembl_id":"ENSG00000179583"}}},"hgnc_date_symbol_changed":"2005-08-12"},"entity_type":"gene","entity_name":"CIITA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8402893","9099848","11862382","28676232","24789686","20197681","11466404","15821736","12910265"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["MHC class II deficiency 1 MIM#209920"],"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":["FLJ33817","PPP1R166","CAMRQ2","SORF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:26600","gene_name":"WD repeat domain 81","omim_gene":["614218"],"alias_name":["protein phosphatase 1, regulatory subunit 166"],"gene_symbol":"WDR81","hgnc_symbol":"WDR81","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1619817-1641893","ensembl_id":"ENSG00000167716"}},"GRch38":{"90":{"location":"17:1716523-1738599","ensembl_id":"ENSG00000167716"}}},"hgnc_date_symbol_changed":"2005-12-16"},"entity_type":"gene","entity_name":"WDR81","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28556411","21885617","33724704"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430","Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794"],"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":["ZFH4","FLJ20980"],"biotype":"protein_coding","hgnc_id":"HGNC:30939","gene_name":"zinc finger homeobox 4","omim_gene":["606940"],"alias_name":null,"gene_symbol":"ZFHX4","hgnc_symbol":"ZFHX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:77593454-77779521","ensembl_id":"ENSG00000091656"}},"GRch38":{"90":{"location":"8:76681219-76867285","ensembl_id":"ENSG00000091656"}}},"hgnc_date_symbol_changed":"2004-07-22"},"entity_type":"gene","entity_name":"ZFHX4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29463886","34461323"],"evidence":["Expert Review Red","Expert Review","Expert list"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), ZFHX4-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4290,"hash_id":null,"name":"Speech apraxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.","status":"public","version":"1.28","version_created":"2026-03-06T16:38:48.591739+11:00","relevant_disorders":[],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2209","gene_name":"collagen type V alpha 1 chain","omim_gene":["120215"],"alias_name":["alpha 1 type V collagen"],"gene_symbol":"COL5A1","hgnc_symbol":"COL5A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:137533620-137736686","ensembl_id":"ENSG00000130635"}},"GRch38":{"90":{"location":"9:134641774-134844843","ensembl_id":"ENSG00000130635"}}},"hgnc_date_symbol_changed":"1992-02-26"},"entity_type":"gene","entity_name":"COL5A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32938213"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ehlers-Danlos syndrome, classic type, 1\tMIM#130000","Fibromuscular dysplasia, multifocal\tMIM#619329"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4323,"hash_id":null,"name":"Spontaneous coronary artery dissection","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"Spontaneous coronary artery (SCA) dissection is a rare cause of myocardial infarction, particularly in younger individuals. While the aetiology is likely to be polygenic in the majority of individuals, SCA dissection may also be indicative of an underlying systemic arteriopathy. This panel contains genes that have been reported in association with this clinical presentation.\r\n\r\nConsider also using the Aortopathy_Connective Tissue Disorders panel in conjunction.\r\n\r\nThis panel was developed in collaboration with Cardiovascular Genomics at the Victorian Heart Hospital and the Clinical Genetics & Genomics Service at Alfred Health.","status":"public","version":"0.58","version_created":"2026-04-06T11:41:58.138051+10:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AGO","FLJ11071","SEL-10","SEL10","FBW7","FBX30","CDC4","FBXW6"],"biotype":"protein_coding","hgnc_id":"HGNC:16712","gene_name":"F-box and WD repeat domain containing 7","omim_gene":["606278"],"alias_name":["archipelago homolog (Drosophila)"],"gene_symbol":"FBXW7","hgnc_symbol":"FBXW7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:153242410-153457253","ensembl_id":"ENSG00000109670"}},"GRch38":{"90":{"location":"4:152321259-152536101","ensembl_id":"ENSG00000109670"}}},"hgnc_date_symbol_changed":"2001-12-20"},"entity_type":"gene","entity_name":"FBXW7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30885698"],"evidence":["Expert Review Amber","Literature","Expert Review","Expert list"],"phenotypes":["Wilms tumor, MONDO:0006058","Wilms tumour, no MIM#"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4366,"hash_id":null,"name":"Wilms Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with Wilms tumour. \r\n\r\nFurther information on the testing criteria for Wilms tumour can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3703-wilms-tumour-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with Wilms tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nWhere Beckwith-Wiedemann Syndrome (BWS) is suspected it is more appropriate to start with methylation studies of 11p15 BWS region in blood and tissue.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2025-09-05T08:17:06.102713+10:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894","29056561","28846287"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Bloom syndrome, MIM# 210900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.148","version_created":"2026-04-21T17:36:51.081048+10:00","relevant_disorders":[],"stats":{"number_of_genes":266,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FMRP","FRAXA","MGC87458"],"biotype":"protein_coding","hgnc_id":"HGNC:3775","gene_name":"fragile X mental retardation 1","omim_gene":["309550"],"alias_name":null,"gene_symbol":"FMR1","hgnc_symbol":"FMR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:146993469-147032645","ensembl_id":"ENSG00000102081"}},"GRch38":{"90":{"location":"X:147911951-147951125","ensembl_id":"ENSG00000102081"}}},"hgnc_date_symbol_changed":"1992-01-17"},"entity_type":"str","entity_name":"FMR1_FXTAS_CGG","confidence_level":"3","penetrance":null,"publications":["27340021","28176767","20301558","23765048","25227148","11445641"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Fragile X tremor/ataxia syndrome MIM#300623"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","repeated_sequence":"CGG","chromosome":"X","grch37_coordinates":[146993569,146993628],"grch38_coordinates":[147912051,147912110],"normal_repeats":44,"pathogenic_repeats":55,"tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.55","version_created":"2026-04-17T16:01:21.596122+10:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":{"alias":["ISSX","CT121","EIEE1"],"biotype":"protein_coding","hgnc_id":"HGNC:18060","gene_name":"aristaless related homeobox","omim_gene":["300382"],"alias_name":["cancer/testis antigen 121"],"gene_symbol":"ARX","hgnc_symbol":"ARX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:25021811-25034065","ensembl_id":"ENSG00000004848"}},"GRch38":{"90":{"location":"X:25003694-25016420","ensembl_id":"ENSG00000004848"}}},"hgnc_date_symbol_changed":"2002-02-11"},"entity_type":"str","entity_name":"ARX_EIEE1_GCN2","confidence_level":"3","penetrance":null,"publications":["11889467","33811808"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Developmental and epileptic encephalopathy 1 MIM#308350","Intellectual disability, X-linked 29 and others MIM#300419","Partington syndrome MIM#309510"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","repeated_sequence":"GCN","chromosome":"X","grch37_coordinates":[25031647,25031682],"grch38_coordinates":[25013530,25013565],"normal_repeats":12,"pathogenic_repeats":20,"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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":{"alias":["FLJ10201","FLJ12841","FLJ13308","KIAA1197"],"biotype":"protein_coding","hgnc_id":"HGNC:25489","gene_name":"YEATS domain containing 2","omim_gene":["613373"],"alias_name":null,"gene_symbol":"YEATS2","hgnc_symbol":"YEATS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:183415606-183530413","ensembl_id":"ENSG00000163872"}},"GRch38":{"90":{"location":"3:183697818-183812625","ensembl_id":"ENSG00000163872"}}},"hgnc_date_symbol_changed":"2004-08-18"},"entity_type":"str","entity_name":"YEATS2_FAME4_TTTCA","confidence_level":"1","penetrance":null,"publications":["31539032"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Epilepsy, myoclonic, familial adult, 4 MIM#615127"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"TTTCA","chromosome":"3","grch37_coordinates":[183429976,183430010],"grch38_coordinates":[183712188,183712222],"normal_repeats":0,"pathogenic_repeats":192,"tags":["adult-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]}}]}