{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=320","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=318","results":[{"gene_data":{"alias":["BAP2","IRSp53"],"biotype":"protein_coding","hgnc_id":"HGNC:947","gene_name":"BAI1 associated protein 2","omim_gene":["605475"],"alias_name":["insulin receptor substrate of 53 kDa"],"gene_symbol":"BAIAP2","hgnc_symbol":"BAIAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79008948-79091232","ensembl_id":"ENSG00000175866"}},"GRch38":{"90":{"location":"17:81035122-81117432","ensembl_id":"ENSG00000175866"}}},"hgnc_date_symbol_changed":"1999-02-26"},"entity_type":"gene","entity_name":"BAIAP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["41133935","38149472"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 120, MIM# 621468"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":15,"hash_id":null,"name":"Lissencephaly and Band Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nIt contains genes associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri, either occurring in isolation or as part of a more complex disorder. The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions of the cortex to less severe malformation known as subcortical band heterotopia.\r\n\r\nPlease also consider the Cobblestone Malformations panel and the broader Malformations of cortical development superpanel if features are not entirely typical.","status":"public","version":"1.30","version_created":"2026-01-19T11:50:01.984105+11:00","relevant_disorders":["Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409"],"stats":{"number_of_genes":46,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian 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":["ARC92","ACID1","TCBAP0758","DKFZp434K0512"],"biotype":"protein_coding","hgnc_id":"HGNC:28845","gene_name":"mediator complex subunit 25","omim_gene":["610197"],"alias_name":null,"gene_symbol":"MED25","hgnc_symbol":"MED25","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50321539-50342073","ensembl_id":"ENSG00000104973"}},"GRch38":{"90":{"location":"19:49818279-49838816","ensembl_id":"ENSG00000104973"}}},"hgnc_date_symbol_changed":"2004-11-09"},"entity_type":"gene","entity_name":"MED25","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32324310","32816121"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.","status":"public","version":"0.204","version_created":"2025-12-18T09:49:46.643708+11:00","relevant_disorders":["Polymicrogyria","HP:0002126;Schizencephaly","HP:0010636"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IBMPFD","p97","CDC48","TERA"],"biotype":"protein_coding","hgnc_id":"HGNC:12666","gene_name":"valosin containing protein","omim_gene":["601023"],"alias_name":["transitional endoplasmic reticulum ATPase"],"gene_symbol":"VCP","hgnc_symbol":"VCP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35056061-35073246","ensembl_id":"ENSG00000165280"}},"GRch38":{"90":{"location":"9:35056064-35073249","ensembl_id":"ENSG00000165280"}}},"hgnc_date_symbol_changed":"1996-08-22"},"entity_type":"gene","entity_name":"VCP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301649","20301623","21145000"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.48","version_created":"2026-03-31T16:37:58.241144+11:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BLOS3","HPS8"],"biotype":"protein_coding","hgnc_id":"HGNC:20914","gene_name":"biogenesis of lysosomal organelles complex 1 subunit 3","omim_gene":["609762"],"alias_name":["BLOC-1 subunit 3","Biogenesis of Lysosome-related Organelles complex-1 Subunit 3","Hermansky-Pudlak syndrome 8"],"gene_symbol":"BLOC1S3","hgnc_symbol":"BLOC1S3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45682003-45685059","ensembl_id":"ENSG00000189114"}},"GRch38":{"90":{"location":"19:45178745-45181801","ensembl_id":"ENSG00000189114"}}},"hgnc_date_symbol_changed":"2004-05-24"},"entity_type":"gene","entity_name":"BLOC1S3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16385460","22709368","32687635"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hermansky-Pudlak syndrome 8, MIM# 614077","MONDO:0013560"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":37,"hash_id":null,"name":"Ocular and Oculocutaneous Albinism","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.16","version_created":"2026-03-27T19:38:01.497264+11:00","relevant_disorders":["Albinism HP:0001022; Ocular albinism","HP:0001107"],"stats":{"number_of_genes":24,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["71-7A","JBTS10"],"biotype":"protein_coding","hgnc_id":"HGNC:2567","gene_name":"OFD1, centriole and centriolar satellite protein","omim_gene":["300170"],"alias_name":null,"gene_symbol":"OFD1","hgnc_symbol":"OFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:13752832-13787480","ensembl_id":"ENSG00000046651"}},"GRch38":{"90":{"location":"X:13734745-13769353","ensembl_id":"ENSG00000046651"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"OFD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20301367"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 10, MIM# 300804","Orofaciodigital syndrome I, MIM# 311200","Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209"],"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":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10715","BBS2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:18758","gene_name":"Bardet-Biedl syndrome 7","omim_gene":["607590"],"alias_name":null,"gene_symbol":"BBS7","hgnc_symbol":"BBS7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:122745595-122791652","ensembl_id":"ENSG00000138686"}},"GRch38":{"90":{"location":"4:121824440-121870497","ensembl_id":"ENSG00000138686"}}},"hgnc_date_symbol_changed":"2003-02-05"},"entity_type":"gene","entity_name":"BBS7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12567324","21937992","19797195"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 7, MIM# 615984","MONDO:0014435"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":53,"hash_id":null,"name":"Bardet Biedl syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nBardet Biedl syndrome is a multisystem ciliopathy characterised by a combination of obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities.\r\n\r\nMany ciliopathies present with overlapping features, please refer to the Ciliopathy panel if broader spectrum of conditions are being considered.","status":"public","version":"1.14","version_created":"2025-05-21T20:50:29.131780+10:00","relevant_disorders":[],"stats":{"number_of_genes":27,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARTEMIS","FLJ11360","SNM1C","A-SCID"],"biotype":"protein_coding","hgnc_id":"HGNC:17642","gene_name":"DNA cross-link repair 1C","omim_gene":["605988"],"alias_name":["PSO2 homolog (S. cerevisiae)"],"gene_symbol":"DCLRE1C","hgnc_symbol":"DCLRE1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:14939358-14996431","ensembl_id":"ENSG00000152457"}},"GRch38":{"90":{"location":"10:14897359-14954432","ensembl_id":"ENSG00000152457"}}},"hgnc_date_symbol_changed":"2002-01-18"},"entity_type":"gene","entity_name":"DCLRE1C","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Omenn syndrome 603554","Severe combined immunodeficiency, Athabascan type 602450"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S1P","KIAA0091","SKI-1","PCSK8"],"biotype":"protein_coding","hgnc_id":"HGNC:15456","gene_name":"membrane bound transcription factor peptidase, site 1","omim_gene":["603355"],"alias_name":["subtilisin kexin isozyme 1","site-1 protease"],"gene_symbol":"MBTPS1","hgnc_symbol":"MBTPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:84087368-84150511","ensembl_id":"ENSG00000140943"}},"GRch38":{"90":{"location":"16:84053761-84116906","ensembl_id":"ENSG00000140943"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"MBTPS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38337829","38135440","36714646","35362222","32420688"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CAOP syndrome, MIM#\t621252","Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM#\t618392"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8926","gene_name":"phosphorylase kinase regulatory subunit alpha 2","omim_gene":["300798"],"alias_name":null,"gene_symbol":"PHKA2","hgnc_symbol":"PHKA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:18910418-19002716","ensembl_id":"ENSG00000044446"}},"GRch38":{"90":{"location":"X:18892300-18984598","ensembl_id":"ENSG00000044446"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"PHKA2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38553553"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Glycogen storage disease, type IXa, 306000"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","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":["U5-15kD","DIM1","HsT161","DIB1","SNRNP15"],"biotype":"protein_coding","hgnc_id":"HGNC:30551","gene_name":"thioredoxin like 4A","omim_gene":["611595"],"alias_name":["similar to S. pombe dim1+"],"gene_symbol":"TXNL4A","hgnc_symbol":"TXNL4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:77732867-77793949","ensembl_id":"ENSG00000141759"}},"GRch38":{"90":{"location":"18:79970811-80033949","ensembl_id":"ENSG00000141759"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"TXNL4A","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["25434003","28905882"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Burn-McKeown syndrome - MIM#608572"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV","UTR"],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["KIAA0359","FLA8","KLP-11"],"biotype":"protein_coding","hgnc_id":"HGNC:6320","gene_name":"kinesin family member 3B","omim_gene":["603754"],"alias_name":null,"gene_symbol":"KIF3B","hgnc_symbol":"KIF3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:30865467-30922814","ensembl_id":"ENSG00000101350"}},"GRch38":{"90":{"location":"20:32277664-32335011","ensembl_id":"ENSG00000101350"}}},"hgnc_date_symbol_changed":"1999-07-06"},"entity_type":"gene","entity_name":"KIF3B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32386558"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["hepatic fibrosis","retinitis pigmentosa","postaxial polydactyly","Retinitis pigmentosa 89, MIM#618955"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ32915"],"biotype":"protein_coding","hgnc_id":"HGNC:26558","gene_name":"HYLS1, centriolar and ciliogenesis 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compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDS1","CHK2","HuCds1","PP1425","bA444G7"],"biotype":"protein_coding","hgnc_id":"HGNC:16627","gene_name":"checkpoint kinase 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panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PHOX1"],"biotype":"protein_coding","hgnc_id":"HGNC:9142","gene_name":"paired related homeobox 1","omim_gene":["167420"],"alias_name":null,"gene_symbol":"PRRX1","hgnc_symbol":"PRRX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:170631869-170708560","ensembl_id":"ENSG00000116132"}},"GRch38":{"90":{"location":"1:170662728-170739419","ensembl_id":"ENSG00000116132"}}},"hgnc_date_symbol_changed":"2003-11-14"},"entity_type":"gene","entity_name":"PRRX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21294718","22211708","22674740","23444262"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Agnathia-otocephaly complex, MIM# 202650"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":136,"hash_id":null,"name":"Mandibulofacial Acrofacial 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Facial dysostoses arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives, including the upper and lower jaw and their hyoid support structures.","status":"public","version":"1.22","version_created":"2026-03-25T17:21:58.910310+11:00","relevant_disorders":["Craniofacial dysostosis","HP:0004439"],"stats":{"number_of_genes":35,"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"}],"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":"","publications":["30071989","32938213"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ehlers-Danlos syndrome, classic type, 1, MIM# 130000","Fibromuscular dysplasia, multifocal, MIM# 619329"],"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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLAP"],"biotype":"protein_coding","hgnc_id":"HGNC:436","gene_name":"arachidonate 5-lipoxygenase activating protein","omim_gene":["603700"],"alias_name":["five-lipoxygenase activating protein","MK-886-binding protein"],"gene_symbol":"ALOX5AP","hgnc_symbol":"ALOX5AP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:31309645-31338556","ensembl_id":"ENSG00000132965"}},"GRch38":{"90":{"location":"13:30713478-30764426","ensembl_id":"ENSG00000132965"}}},"hgnc_date_symbol_changed":"1997-10-10"},"entity_type":"gene","entity_name":"ALOX5AP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XH2","XNP"],"biotype":"protein_coding","hgnc_id":"HGNC:886","gene_name":"ATRX, chromatin remodeler","omim_gene":["300032","300504"],"alias_name":["RAD54 homolog (S. cerevisiae)"],"gene_symbol":"ATRX","hgnc_symbol":"ATRX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:76760356-77041702","ensembl_id":"ENSG00000085224"}},"GRch38":{"90":{"location":"X:77504878-77786269","ensembl_id":"ENSG00000085224"}}},"hgnc_date_symbol_changed":"1992-11-27"},"entity_type":"gene","entity_name":"ATRX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["ATR-X-related syndrome MONDO:0016980"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IB1099","ETL1","EPITEMPIN"],"biotype":"protein_coding","hgnc_id":"HGNC:6572","gene_name":"leucine rich glioma inactivated 1","omim_gene":["604619"],"alias_name":null,"gene_symbol":"LGI1","hgnc_symbol":"LGI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:95517566-95557916","ensembl_id":"ENSG00000108231"}},"GRch38":{"90":{"location":"10:93757809-93806272","ensembl_id":"ENSG00000108231"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"LGI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18711109","12205652","15079010","22496201"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epilepsy, familial temporal lobe, 1, MIM# 6000512","Developmental and epileptic encephalopathy 121, MIM# 621475"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16038","gene_name":"ORMDL sphingolipid biosynthesis regulator 3","omim_gene":["610075"],"alias_name":null,"gene_symbol":"ORMDL3","hgnc_symbol":"ORMDL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:38077294-38083854","ensembl_id":"ENSG00000172057"}},"GRch38":{"90":{"location":"17:39921041-39927601","ensembl_id":"ENSG00000172057"}}},"hgnc_date_symbol_changed":"2001-07-27"},"entity_type":"gene","entity_name":"ORMDL3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":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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Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10512","FLJ25012"],"biotype":"protein_coding","hgnc_id":"HGNC:17814","gene_name":"SMC5-SMC6 complex localization factor 2","omim_gene":["610348"],"alias_name":null,"gene_symbol":"SLF2","hgnc_symbol":"SLF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102672326-102724893","ensembl_id":"ENSG00000119906"}},"GRch38":{"90":{"location":"10:100912569-100965136","ensembl_id":"ENSG00000119906"}}},"hgnc_date_symbol_changed":"2015-07-10"},"entity_type":"gene","entity_name":"SLF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36333305"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Atelis syndrome 1, MIM# 620184"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality 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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":["hSNF2b","BRG1","BAF190","SNF2","SWI2","SNF2-BETA","SNF2LB","FLJ39786"],"biotype":"protein_coding","hgnc_id":"HGNC:11100","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4","omim_gene":["603254"],"alias_name":["SNF2-like 4","global transcription activator homologous sequence","sucrose nonfermenting-like 4","mitotic growth and transcription activator","BRM/SWI2-related gene 1","homeotic gene regulator","nuclear protein GRB1","brahma protein-like 1","ATP-dependent helicase 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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":["DWF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:3497","gene_name":"EvC ciliary complex subunit 1","omim_gene":["604831"],"alias_name":null,"gene_symbol":"EVC","hgnc_symbol":"EVC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:5712924-5830772","ensembl_id":"ENSG00000072840"}},"GRch38":{"90":{"location":"4:5711197-5814305","ensembl_id":"ENSG00000072840"}}},"hgnc_date_symbol_changed":"1995-04-24"},"entity_type":"gene","entity_name":"EVC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23220543"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ellis-van Creveld syndrome, MIM# 225500"],"mode_of_inheritance":"BIALLELIC, autosomal or 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Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GL004"],"biotype":"protein_coding","hgnc_id":"HGNC:24858","gene_name":"mitochondrial fission factor","omim_gene":["614785"],"alias_name":null,"gene_symbol":"MFF","hgnc_symbol":"MFF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:228189867-228222550","ensembl_id":"ENSG00000168958"}},"GRch38":{"90":{"location":"2:227325151-227357836","ensembl_id":"ENSG00000168958"}}},"hgnc_date_symbol_changed":"2008-05-29"},"entity_type":"gene","entity_name":"MFF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22499341","26783368","32181496"],"evidence":["Expert Review 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However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SNAP-BETA","SNAPB"],"biotype":"protein_coding","hgnc_id":"HGNC:15751","gene_name":"NSF attachment protein beta","omim_gene":["611270"],"alias_name":["beta soluble NSF attachment protein"],"gene_symbol":"NAPB","hgnc_symbol":"NAPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:23355159-23402125","ensembl_id":"ENSG00000125814"}},"GRch38":{"90":{"location":"20:23374519-23421519","ensembl_id":"ENSG00000125814"}}},"hgnc_date_symbol_changed":"2001-05-30"},"entity_type":"gene","entity_name":"NAPB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26235277","28097321","33189936"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 107 MIM#620033"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNASE6PL","FLJ10907","bA514O12.3"],"biotype":"protein_coding","hgnc_id":"HGNC:21686","gene_name":"ribonuclease T2","omim_gene":["612944"],"alias_name":null,"gene_symbol":"RNASET2","hgnc_symbol":"RNASET2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:167342992-167370679","ensembl_id":"ENSG00000026297"}},"GRch38":{"90":{"location":"6:166929504-166957191","ensembl_id":"ENSG00000026297"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"RNASET2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31349848","19525954","27091087","29336640","18545798","15851732"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Leukoencephalopathy, cystic, without megalencephaly MIM#612951"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPTASE"],"biotype":"protein_coding","hgnc_id":"HGNC:2330","gene_name":"carnitine palmitoyltransferase 2","omim_gene":["600650"],"alias_name":null,"gene_symbol":"CPT2","hgnc_symbol":"CPT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53662101-53679869","ensembl_id":"ENSG00000157184"}},"GRch38":{"90":{"location":"1:53196429-53214197","ensembl_id":"ENSG00000157184"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"CPT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25778941","12673791","30957255"],"evidence":["Expert Review Green","Expert Review Green","Literature","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["CPT II deficiency, infantile MIM#600649","CPT II deficiency, lethal neonatal\tMIM#608836","CPT II deficiency, myopathic, stress-induced\tMIM#255110"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6341","gene_name":"KiSS-1 metastasis-suppressor","omim_gene":["603286"],"alias_name":["prepro-kisspeptin","kisspeptin"],"gene_symbol":"KISS1","hgnc_symbol":"KISS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:204159469-204165614","ensembl_id":"ENSG00000170498"}},"GRch38":{"90":{"location":"1:204190341-204196486","ensembl_id":"ENSG00000170498"}}},"hgnc_date_symbol_changed":"1998-05-18"},"entity_type":"gene","entity_name":"KISS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22335740","25783047","22766261","17563351"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842"],"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":["NKCC1","BSC","BSC2","PPP1R141"],"biotype":"protein_coding","hgnc_id":"HGNC:10911","gene_name":"solute carrier family 12 member 2","omim_gene":["600840"],"alias_name":["bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1","basolateral Na-K-Cl symporter","protein phosphatase 1, regulatory subunit 141"],"gene_symbol":"SLC12A2","hgnc_symbol":"SLC12A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:127419458-127525380","ensembl_id":"ENSG00000064651"}},"GRch38":{"90":{"location":"5:128083766-128189688","ensembl_id":"ENSG00000064651"}}},"hgnc_date_symbol_changed":"1994-02-16"},"entity_type":"gene","entity_name":"SLC12A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30740830","32294086"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Kilquist syndrome, MIM#619080","deafness, intellectual disability, dysmorphic features, absent salivation","Congenital, severe to profound hearing loss","minor motor developmental delay","Deafness, autosomal dominant 78, MIM#\t619081"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1353","gene_name":"complement C8 beta chain","omim_gene":["120960"],"alias_name":null,"gene_symbol":"C8B","hgnc_symbol":"C8B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:57394883-57431813","ensembl_id":"ENSG00000021852"}},"GRch38":{"90":{"location":"1:56929210-56966140","ensembl_id":"ENSG00000021852"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C8B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["C8 deficiency, type II MIM#613789"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":224,"hash_id":null,"name":"Complement Deficiencies","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\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":"1.2","version_created":"2025-10-30T13:50:05.331358+11:00","relevant_disorders":["Abnormality of complement system","HP:0005339"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ADGF"],"biotype":"protein_coding","hgnc_id":"HGNC:1839","gene_name":"adenosine deaminase 2","omim_gene":["607575"],"alias_name":null,"gene_symbol":"ADA2","hgnc_symbol":"ADA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:17660194-17702879","ensembl_id":"ENSG00000093072"}},"GRch38":{"90":{"location":"22:17178790-17221989","ensembl_id":"ENSG00000093072"}}},"hgnc_date_symbol_changed":"2017-02-16"},"entity_type":"gene","entity_name":"ADA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24552284","24552285","33791889","40864493"],"evidence":["Expert Review Green","Expert Review Green","Literature","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":238,"hash_id":null,"name":"Autoinflammatory Disorders","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).","status":"public","version":"2.46","version_created":"2026-03-16T12:22:08.572710+11:00","relevant_disorders":["Fever HP:0001945;Systemic autoinflammation 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":null},{"gene_data":{"alias":["G17","SN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18044","gene_name":"solute carrier family 38 member 3","omim_gene":["604437"],"alias_name":null,"gene_symbol":"SLC38A3","hgnc_symbol":"SLC38A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50242679-50258411","ensembl_id":"ENSG00000188338"}},"GRch38":{"90":{"location":"3:50205246-50221486","ensembl_id":"ENSG00000188338"}}},"hgnc_date_symbol_changed":"2002-01-22"},"entity_type":"gene","entity_name":"SLC38A3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["34605855"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 102, MIM# 619881"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LAMAN"],"biotype":"protein_coding","hgnc_id":"HGNC:6826","gene_name":"mannosidase alpha class 2B member 1","omim_gene":["609458"],"alias_name":null,"gene_symbol":"MAN2B1","hgnc_symbol":"MAN2B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:12757325-12777556","ensembl_id":"ENSG00000104774"}},"GRch38":{"90":{"location":"19:12646511-12666742","ensembl_id":"ENSG00000104774"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MAN2B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Mannosidosis, alpha-, types I and II, MIM# 248500","MONDO:0009561"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33836758","32313197","34389986"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953"],"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. 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Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:830","gene_name":"ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide","omim_gene":["102910"],"alias_name":null,"gene_symbol":"ATP5B","hgnc_symbol":"ATP5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57031959-57039798","ensembl_id":"ENSG00000110955"}},"GRch38":{"90":{"location":"12:56638175-56646068","ensembl_id":"ENSG00000110955"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"ATP5B","confidence_level":"2","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["36860166","40276935"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Dystonia 38, susceptibility to, MIM# 621502"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RGI1","LCA6","CORD13"],"biotype":"protein_coding","hgnc_id":"HGNC:13436","gene_name":"RPGR interacting protein 1","omim_gene":["605446"],"alias_name":null,"gene_symbol":"RPGRIP1","hgnc_symbol":"RPGRIP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:21756098-21819460","ensembl_id":"ENSG00000092200"}},"GRch38":{"90":{"location":"14:21287939-21351301","ensembl_id":"ENSG00000092200"}}},"hgnc_date_symbol_changed":"2000-12-20"},"entity_type":"gene","entity_name":"RPGRIP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Leber congenital amaurosis 6, 613826","Cone-rod dystrophy 13, 608194"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":303,"hash_id":null,"name":"Macular Dystrophy/Stargardt Disease","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.60","version_created":"2026-03-31T16:05:02.510211+11:00","relevant_disorders":["Macular dystrophy","HP:0007754"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Mitochondrial DNA depletion syndrome 1 (MNGIE type)","HMSN"],"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 Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6482","gene_name":"laminin subunit alpha 2","omim_gene":["156225"],"alias_name":["merosin","congenital muscular dystrophy"],"gene_symbol":"LAMA2","hgnc_symbol":"LAMA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:129204342-129837714","ensembl_id":"ENSG00000196569"}},"GRch38":{"90":{"location":"6:128883141-129516569","ensembl_id":"ENSG00000196569"}}},"hgnc_date_symbol_changed":"1992-05-06"},"entity_type":"gene","entity_name":"LAMA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30055037"],"evidence":["Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855","Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HRG","NDF","GGF"],"biotype":"protein_coding","hgnc_id":"HGNC:7997","gene_name":"neuregulin 1","omim_gene":["142445"],"alias_name":null,"gene_symbol":"NRG1","hgnc_symbol":"NRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:31496902-32622548","ensembl_id":"ENSG00000157168"}},"GRch38":{"90":{"location":"8:31639386-32767959","ensembl_id":"ENSG00000157168"}}},"hgnc_date_symbol_changed":"1999-03-19"},"entity_type":"gene","entity_name":"NRG1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["22574178","21706185","28190554"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Hirschsprung disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3087,"hash_id":null,"name":"Gastrointestinal neuromuscular disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel contains genes that cause disorders where intestinal pseudo-obstruction is a prominent feature of the condition.\r\n\r\nIt was previously known as 'Visceral Myopathy', and was developed and is maintained by RMH. It is a consensus panel used by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp \"Gastrointestinal neuromuscular disorders\" panel V1.15, 31/07/2021, with all discordances resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.26","version_created":"2026-03-26T19:32:59.997765+11:00","relevant_disorders":["Gastrointestinal dysmotility","HP:0002579"],"stats":{"number_of_genes":41,"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":["AIP4"],"biotype":"protein_coding","hgnc_id":"HGNC:13890","gene_name":"itchy E3 ubiquitin protein ligase","omim_gene":["606409"],"alias_name":null,"gene_symbol":"ITCH","hgnc_symbol":"ITCH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:32951041-33099198","ensembl_id":"ENSG00000078747"}},"GRch38":{"90":{"location":"20:34363235-34511393","ensembl_id":"ENSG00000078747"}}},"hgnc_date_symbol_changed":"2001-04-27"},"entity_type":"gene","entity_name":"ITCH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20170897","31091003","32356405","30705142","33894394"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1527","gene_name":"caveolin 1","omim_gene":["601047"],"alias_name":null,"gene_symbol":"CAV1","hgnc_symbol":"CAV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:116164839-116201233","ensembl_id":"ENSG00000105974"}},"GRch38":{"90":{"location":"7:116524785-116561184","ensembl_id":"ENSG00000105974"}}},"hgnc_date_symbol_changed":"1993-11-02"},"entity_type":"gene","entity_name":"CAV1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pulmonary hypertension, primary, 3 MIM#615343"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3095,"hash_id":null,"name":"Pulmonary Arterial Hypertension","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.","status":"public","version":"1.57","version_created":"2026-04-07T13:46:27.864798+10:00","relevant_disorders":["Pulmonary arterial hypertension","HP:0002092"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["norrin"],"biotype":"protein_coding","hgnc_id":"HGNC:7678","gene_name":"NDP, norrin cystine knot growth factor","omim_gene":["300658"],"alias_name":null,"gene_symbol":"NDP","hgnc_symbol":"NDP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:43808022-43832750","ensembl_id":"ENSG00000124479"}},"GRch38":{"90":{"location":"X:43948776-43973504","ensembl_id":"ENSG00000124479"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NDP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Exudative vitreoretinopathy 2, X-linked, MIM# 305390","Norrie disease, MIM# 310600"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":null},{"gene_data":{"alias":["P31","Vma4","ATP6E2"],"biotype":"protein_coding","hgnc_id":"HGNC:857","gene_name":"ATPase H+ transporting V1 subunit E1","omim_gene":["108746"],"alias_name":null,"gene_symbol":"ATP6V1E1","hgnc_symbol":"ATP6V1E1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18074902-18111584","ensembl_id":"ENSG00000131100"}},"GRch38":{"90":{"location":"22:17592136-17628818","ensembl_id":"ENSG00000131100"}}},"hgnc_date_symbol_changed":"2002-06-21"},"entity_type":"gene","entity_name":"ATP6V1E1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28065471","27023906"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cutis laxa, autosomal recessive, type IIC MIM#617402"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3129,"hash_id":null,"name":"Cutis Laxa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where cutis laxa is a prominent feature of the condition. This panel is maintained by RMH.","status":"public","version":"1.0","version_created":"2022-10-16T18:04:47.521878+11:00","relevant_disorders":["Cutis laxa HP:0000973"],"stats":{"number_of_genes":15,"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":["Kv8.2"],"biotype":"protein_coding","hgnc_id":"HGNC:19698","gene_name":"potassium voltage-gated channel modifier subfamily V member 2","omim_gene":["607604"],"alias_name":null,"gene_symbol":"KCNV2","hgnc_symbol":"KCNV2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:2717502-2730037","ensembl_id":"ENSG00000168263"}},"GRch38":{"90":{"location":"9:2717502-2730037","ensembl_id":"ENSG00000168263"}}},"hgnc_date_symbol_changed":"2002-11-20"},"entity_type":"gene","entity_name":"KCNV2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30679166","16909397","18235024","21882291","23221069","31960170","34535971","34652420"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Retinal cone dystrophy 3B MIM#610356"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3147,"hash_id":null,"name":"Cone-rod Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.67","version_created":"2026-04-01T10:29:43.490911+11:00","relevant_disorders":["Retinal dystrophy","HP:0000556"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4419","gene_name":"gonadotropin releasing hormone 1","omim_gene":["152760"],"alias_name":["progonadoliberin-1"],"gene_symbol":"GNRH1","hgnc_symbol":"GNRH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:25276776-25282170","ensembl_id":"ENSG00000147437"}},"GRch38":{"90":{"location":"8:25419260-25424654","ensembl_id":"ENSG00000147437"}}},"hgnc_date_symbol_changed":"1993-12-15"},"entity_type":"gene","entity_name":"GNRH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32134721","19567835","19535795"],"evidence":["Expert Review Green","Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 12 with or without anosmia 614841"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTC","CDHF12","RET51","CDHR16"],"biotype":"protein_coding","hgnc_id":"HGNC:9967","gene_name":"ret proto-oncogene","omim_gene":["164761"],"alias_name":["cadherin-related family member 16","RET receptor tyrosine kinase","rearranged during transfection"],"gene_symbol":"RET","hgnc_symbol":"RET","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:43572475-43625799","ensembl_id":"ENSG00000165731"}},"GRch38":{"90":{"location":"10:43077027-43130351","ensembl_id":"ENSG00000165731"}}},"hgnc_date_symbol_changed":"1990-07-15"},"entity_type":"gene","entity_name":"RET","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Multiple endocrine neoplasia IIA","Multiple endocrine neoplasia IIB"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16808","gene_name":"ubiquitin protein ligase E3 component n-recognin 1","omim_gene":["605981"],"alias_name":null,"gene_symbol":"UBR1","hgnc_symbol":"UBR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:43235095-43398311","ensembl_id":"ENSG00000159459"}},"GRch38":{"90":{"location":"15:42942897-43106113","ensembl_id":"ENSG00000159459"}}},"hgnc_date_symbol_changed":"2002-01-25"},"entity_type":"gene","entity_name":"UBR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Johanson-Blizzard syndrome"],"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":["FKHL20"],"biotype":"protein_coding","hgnc_id":"HGNC:12765","gene_name":"forkhead box N1","omim_gene":["600838"],"alias_name":null,"gene_symbol":"FOXN1","hgnc_symbol":"FOXN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:26833261-26865914","ensembl_id":"ENSG00000109101"}},"GRch38":{"90":{"location":"17:28506243-28538896","ensembl_id":"ENSG00000109101"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"FOXN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital alopecia with T-cell immunodeficiency"],"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":["SAP145","SF3b1","Cus1","SF3b145"],"biotype":"protein_coding","hgnc_id":"HGNC:10769","gene_name":"splicing factor 3b subunit 2","omim_gene":["605591"],"alias_name":null,"gene_symbol":"SF3B2","hgnc_symbol":"SF3B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65818200-65836779","ensembl_id":"ENSG00000087365"}},"GRch38":{"90":{"location":"11:66050729-66069308","ensembl_id":"ENSG00000087365"}}},"hgnc_date_symbol_changed":"2000-02-29"},"entity_type":"gene","entity_name":"SF3B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34344887"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Craniofacial microsomia, MIM#164210"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["bA207C16.1"],"biotype":"protein_coding","hgnc_id":"HGNC:17686","gene_name":"RIC1 homolog, RAB6A GEF complex partner 1","omim_gene":["610354"],"alias_name":null,"gene_symbol":"RIC1","hgnc_symbol":"RIC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:5629025-5776557","ensembl_id":"ENSG00000107036"}},"GRch38":{"90":{"location":"9:5629025-5776557","ensembl_id":"ENSG00000107036"}}},"hgnc_date_symbol_changed":"2014-07-23"},"entity_type":"gene","entity_name":"RIC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36493769"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cleft lip/palate MONDO:0016044, RIC1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":["7920658","7800007","8964822"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hyperthyroidism, nonautoimmune, MIM# 609152"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3372,"hash_id":null,"name":"Hyperthyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with hyperthyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hyperthyroidism' panel V3.4, with all discrepancies reviewed and resolved (August 2025).","status":"public","version":"0.25","version_created":"2026-02-05T10:59:28.634960+11:00","relevant_disorders":["Hyperthyroidism HP:0000836"],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HMCS","FLJ20733","MOS"],"biotype":"protein_coding","hgnc_id":"HGNC:18234","gene_name":"molybdenum cofactor sulfurase","omim_gene":["613274"],"alias_name":null,"gene_symbol":"MOCOS","hgnc_symbol":"MOCOS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:33767482-33852120","ensembl_id":"ENSG00000075643"}},"GRch38":{"90":{"location":"18:36187519-36272157","ensembl_id":"ENSG00000075643"}}},"hgnc_date_symbol_changed":"2003-12-18"},"entity_type":"gene","entity_name":"MOCOS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25370766, 17368066, 34356852"],"evidence":["Expert Review Green"],"phenotypes":["Disorders of molybdenum cofactor metabolism","xanthinuria type II MONDO:0011346"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3469,"hash_id":null,"name":"Metal Metabolism Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism.  \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.","status":"public","version":"0.54","version_created":"2026-02-17T14:35:14.331246+11:00","relevant_disorders":["Abnormality of iron homeostasis","HP:0011031;Abnormal blood transition element cation concentration","HP:0011030"],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15629294","9931324","8162071"],"evidence":["Expert Review Green","Genomics England PanelApp","NHS Genomic Medicine Service"],"phenotypes":["Anterior segment dysgenesis 5, multiple subtypes 604229","Optic nerve hypoplasia 165550 AD","Foveal hypoplasia 1 136520 AD"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cav2.1","EA2","APCA","HPCA","FHM"],"biotype":"protein_coding","hgnc_id":"HGNC:1388","gene_name":"calcium voltage-gated channel subunit alpha1 A","omim_gene":["601011"],"alias_name":null,"gene_symbol":"CACNA1A","hgnc_symbol":"CACNA1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13317256-13734804","ensembl_id":"ENSG00000141837"}},"GRch38":{"90":{"location":"19:13206442-13633025","ensembl_id":"ENSG00000141837"}}},"hgnc_date_symbol_changed":"1996-06-18"},"entity_type":"gene","entity_name":"CACNA1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19182766"],"evidence":["Expert Review Green","Genomics England PanelApp","NHS Genomic Medicine Service","Expert list"],"phenotypes":["Developemental and epileptic encephalopathy 42, MIM# 617106","Episodic ataxia, type 2, MIM# 108500","Migraine, familial hemiplegic, 1, MIM# 141500","Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500","Spinocerebellar ataxia 6, MIM# 183086"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Spred-2","FLJ21897","FLJ31917"],"biotype":"protein_coding","hgnc_id":"HGNC:17722","gene_name":"sprouty related EVH1 domain containing 2","omim_gene":["609292"],"alias_name":null,"gene_symbol":"SPRED2","hgnc_symbol":"SPRED2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:65537985-65659771","ensembl_id":"ENSG00000198369"}},"GRch38":{"90":{"location":"2:65310851-65432637","ensembl_id":"ENSG00000198369"}}},"hgnc_date_symbol_changed":"2003-06-02"},"entity_type":"gene","entity_name":"SPRED2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34626534"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Noonan syndrome 14, MIM# 619745"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bHLHe14"],"biotype":"protein_coding","hgnc_id":"HGNC:10882","gene_name":"single-minded family bHLH transcription factor 1","omim_gene":["603128"],"alias_name":null,"gene_symbol":"SIM1","hgnc_symbol":"SIM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:100832891-100912805","ensembl_id":"ENSG00000112246"}},"GRch38":{"90":{"location":"6:100385015-100464929","ensembl_id":"ENSG00000112246"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"SIM1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23778136","23778139","28472148"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Severe obesity with neurobehavioral features"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12410","gene_name":"tubulin alpha 8","omim_gene":["605742"],"alias_name":null,"gene_symbol":"TUBA8","hgnc_symbol":"TUBA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18593097-18629321","ensembl_id":"ENSG00000183785"}},"GRch38":{"90":{"location":"22:18110331-18146554","ensembl_id":"ENSG00000183785"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"TUBA8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28388629","31481326","19896110"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20345","POC12","BBS13"],"biotype":"protein_coding","hgnc_id":"HGNC:7121","gene_name":"Meckel syndrome, type 1","omim_gene":["609883"],"alias_name":["POC12 centriolar protein homolog (Chlamydomonas)"],"gene_symbol":"MKS1","hgnc_symbol":"MKS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56282803-56296966","ensembl_id":"ENSG00000011143"}},"GRch38":{"90":{"location":"17:58205437-58219605","ensembl_id":"ENSG00000011143"}}},"hgnc_date_symbol_changed":"1995-11-07"},"entity_type":"gene","entity_name":"MKS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18327255","24608809"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 13, MIM# 615990","MONDO:0014441"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3764,"hash_id":null,"name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.","status":"public","version":"1.30","version_created":"2026-03-18T15:16:42.995334+11:00","relevant_disorders":["Obesity","HP:0001513"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":3},"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":["CD61","GPIIIa"],"biotype":"protein_coding","hgnc_id":"HGNC:6156","gene_name":"integrin subunit beta 3","omim_gene":["173470"],"alias_name":["platelet glycoprotein IIIa","antigen CD61"],"gene_symbol":"ITGB3","hgnc_symbol":"ITGB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:45331212-45421658","ensembl_id":"ENSG00000259207"}},"GRch38":{"90":{"location":"17:47253846-47311816","ensembl_id":"ENSG00000259207"}}},"hgnc_date_symbol_changed":"1988-06-09"},"entity_type":"gene","entity_name":"ITGB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glanzmann thrombasthenia, Platelet-type bleeding disorder 16"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"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":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UBE1X","POC20","CFAP124"],"biotype":"protein_coding","hgnc_id":"HGNC:12469","gene_name":"ubiquitin like modifier activating enzyme 1","omim_gene":["314370"],"alias_name":["UBA1, ubiquitin-activating enzyme E1 homolog (yeast)","POC20 centriolar protein homolog (Chlamydomonas)"],"gene_symbol":"UBA1","hgnc_symbol":"UBA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:47050260-47074527","ensembl_id":"ENSG00000130985"}},"GRch38":{"90":{"location":"X:47190861-47215128","ensembl_id":"ENSG00000130985"}}},"hgnc_date_symbol_changed":"2007-11-30"},"entity_type":"gene","entity_name":"UBA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18179898","32181232","31932168","29034082","23518311","26028276"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)"],"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":["SDR38C1"],"biotype":"protein_coding","hgnc_id":"HGNC:11257","gene_name":"sepiapterin reductase","omim_gene":["182125"],"alias_name":["short chain dehydrogenase/reductase family 38C, member 1","Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)"],"gene_symbol":"SPR","hgnc_symbol":"SPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:73114489-73119287","ensembl_id":"ENSG00000116096"}},"GRch38":{"90":{"location":"2:72887360-72892158","ensembl_id":"ENSG00000116096"}}},"hgnc_date_symbol_changed":"1991-12-05"},"entity_type":"gene","entity_name":"SPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22522443","26131547","33903016","31777525","16650784","21431957","28189489"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716"],"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":["CIP98","USH2D","PDZD7B"],"biotype":"protein_coding","hgnc_id":"HGNC:16361","gene_name":"whirlin","omim_gene":["607928"],"alias_name":null,"gene_symbol":"WHRN","hgnc_symbol":"WHRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117164360-117267730","ensembl_id":"ENSG00000095397"}},"GRch38":{"90":{"location":"9:114402080-114505450","ensembl_id":"ENSG00000095397"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"WHRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26307081","26338283","22147658","17171570","21738389","27117407"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Usher syndrome, type 2D, MIM#611383"],"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":["MGC16169","HSPC302"],"biotype":"protein_coding","hgnc_id":"HGNC:28261","gene_name":"TBC1 domain containing kinase","omim_gene":["616899"],"alias_name":null,"gene_symbol":"TBCK","hgnc_symbol":"TBCK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:106962756-107242652","ensembl_id":"ENSG00000145348"}},"GRch38":{"90":{"location":"4:106041599-106321495","ensembl_id":"ENSG00000145348"}}},"hgnc_date_symbol_changed":"2009-08-26"},"entity_type":"gene","entity_name":"TBCK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27040691","30591081","35095425","36317458"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900"],"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":["AGAS","ARGA","NAT7"],"biotype":"protein_coding","hgnc_id":"HGNC:17996","gene_name":"N-acetylglutamate synthase","omim_gene":["608300"],"alias_name":null,"gene_symbol":"NAGS","hgnc_symbol":"NAGS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42081914-42086431","ensembl_id":"ENSG00000161653"}},"GRch38":{"90":{"location":"17:44004546-44009063","ensembl_id":"ENSG00000161653"}}},"hgnc_date_symbol_changed":"2004-12-03"},"entity_type":"gene","entity_name":"NAGS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15714518","27037498","22503289"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["STL2","CO11A1"],"biotype":"protein_coding","hgnc_id":"HGNC:2186","gene_name":"collagen type XI alpha 1 chain","omim_gene":["120280"],"alias_name":["collagen XI, alpha-1 polypeptide"],"gene_symbol":"COL11A1","hgnc_symbol":"COL11A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:103342023-103574052","ensembl_id":"ENSG00000060718"}},"GRch38":{"90":{"location":"1:102876467-103108496","ensembl_id":"ENSG00000060718"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL11A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Stickler syndrome, type II, MIM# 604841"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","ophthalmological"],"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":["IKK-gamma","NEMO","Fip3p","FIP-3","FIP3","ZC2HC9"],"biotype":null,"hgnc_id":"HGNC:5961","gene_name":"inhibitor of nuclear factor kappa B kinase subunit gamma","omim_gene":["300248"],"alias_name":null,"gene_symbol":"IKBKG","hgnc_symbol":"IKBKG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153769414-153796782","ensembl_id":"ENSG00000073009"}},"GRch38":{"90":{"location":"X:154541199-154565046","ensembl_id":"ENSG00000269335"}}},"hgnc_date_symbol_changed":"1998-09-30"},"entity_type":"gene","entity_name":"IKBKG","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Immunodeficiency 33 (300636)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["for review","treatable","immunological","technically challenging"],"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":["GNT-II"],"biotype":"protein_coding","hgnc_id":"HGNC:7045","gene_name":"mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase","omim_gene":["602616"],"alias_name":null,"gene_symbol":"MGAT2","hgnc_symbol":"MGAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50087489-50090198","ensembl_id":"ENSG00000168282"}},"GRch38":{"90":{"location":"14:49620795-49623481","ensembl_id":"ENSG00000168282"}}},"hgnc_date_symbol_changed":"1993-02-16"},"entity_type":"gene","entity_name":"MGAT2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22105986","31420886","11228641","33044030","8808595"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital disorder of glycosylation, type IIa, MIM# 212066","MGAT2-CDG, MONDO:0008908"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D22S675","NAGT"],"biotype":"protein_coding","hgnc_id":"HGNC:11036","gene_name":"solute carrier family 5 member 1","omim_gene":["182380"],"alias_name":["sodium/glucose cotransporter 1"],"gene_symbol":"SLC5A1","hgnc_symbol":"SLC5A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:32439019-32509016","ensembl_id":"ENSG00000100170"}},"GRch38":{"90":{"location":"22:32043032-32113029","ensembl_id":"ENSG00000100170"}}},"hgnc_date_symbol_changed":"1988-08-05"},"entity_type":"gene","entity_name":"SLC5A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Glucose/galactose malabsorption, MIM# 606824"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","gastrointestinal"],"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":["CD141"],"biotype":"protein_coding","hgnc_id":"HGNC:11784","gene_name":"thrombomodulin","omim_gene":["188040"],"alias_name":null,"gene_symbol":"THBD","hgnc_symbol":"THBD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:23026270-23030378","ensembl_id":"ENSG00000178726"}},"GRch38":{"90":{"location":"20:23045633-23049741","ensembl_id":"ENSG00000178726"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"THBD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Haemolytic uraemic syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAC","FA3"],"biotype":"protein_coding","hgnc_id":"HGNC:3584","gene_name":"Fanconi anemia complementation group C","omim_gene":["613899"],"alias_name":null,"gene_symbol":"FANCC","hgnc_symbol":"FANCC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97861336-98079991","ensembl_id":"ENSG00000158169"}},"GRch38":{"90":{"location":"9:95099054-95426796","ensembl_id":"ENSG00000158169"}}},"hgnc_date_symbol_changed":"1992-11-25"},"entity_type":"gene","entity_name":"FANCC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Fanconi anemia, complementation group C, MIM# 227645","MONDO:0009213"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"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":["Kir6.2","BIR"],"biotype":"protein_coding","hgnc_id":"HGNC:6257","gene_name":"potassium voltage-gated channel subfamily J member 11","omim_gene":["600937"],"alias_name":null,"gene_symbol":"KCNJ11","hgnc_symbol":"KCNJ11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17407406-17410878","ensembl_id":"ENSG00000187486"}},"GRch38":{"90":{"location":"11:17385859-17389331","ensembl_id":"ENSG00000187486"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"KCNJ11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Diabetes mellitus, trans","Maturity Onset Diabetes of the Young (Dominant)","Diabetes Mellitus, Permanent Neonatal","Transient Neonatal diabetes mellitus (Dominant)","{Diabetes mellitus, type 2, susceptibility to}, 125853","Transient Neonatal Diabetes, Dominant","Diabetes mellitus, permanent neonatal, with neurologic features, 606176","Diabetes, permanent neonatal, 606176","Diabetes mellitus, transient neonatal, 3, 610582","Diabetes Mellitus, Transient Neonatal, 3","Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive)","Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582","Maturity Onset Diabetes of the Young","Transient Neonatal, 3","Hyperinsulinemic hypoglycemia, familial, 2, 601820"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CNC1"],"biotype":"protein_coding","hgnc_id":"HGNC:9388","gene_name":"protein kinase cAMP-dependent type I regulatory subunit alpha","omim_gene":["188830"],"alias_name":["Carney complex type 1"],"gene_symbol":"PRKAR1A","hgnc_symbol":"PRKAR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:66507921-66547460","ensembl_id":"ENSG00000108946"}},"GRch38":{"90":{"location":"17:68511780-68551319","ensembl_id":"ENSG00000108946"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"PRKAR1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39006359, 12213893, 40066253, 39355138, 11115848"],"evidence":["Expert Review Green","Expert List"],"phenotypes":["Pigmented nodular adrenocortical disease, primary, 1, MONDO:0012509","Carney complex type 1, MONDO:0008057"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4488,"hash_id":null,"name":"Primary nodular adrenocortical disease","disease_group":"Endocrine disorders; Cancer Predisposition","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with primary pigmented nodular adrenocortical disease and ACTH-independent macronodular adrenal hyperplasia.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.","status":"public","version":"0.15","version_created":"2026-02-02T07:59:54.010712+11:00","relevant_disorders":[],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]}]}