{"count":36022,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=360","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=358","results":[{"gene_data":{"alias":["TBR2"],"biotype":"protein_coding","hgnc_id":"HGNC:3372","gene_name":"eomesodermin","omim_gene":["604615"],"alias_name":["T-box brain2"],"gene_symbol":"EOMES","hgnc_symbol":"EOMES","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:27757440-27764206","ensembl_id":"ENSG00000163508"}},"GRch38":{"90":{"location":"3:27715949-27722711","ensembl_id":"ENSG00000163508"}}},"hgnc_date_symbol_changed":"1998-09-15"},"entity_type":"gene","entity_name":"EOMES","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17353897"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Microcephaly, MONDO:0001149, EOMES-related"],"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. 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VCGS.","status":"public","version":"0.46","version_created":"2026-02-06T09:29:49.325637+11:00","relevant_disorders":[],"stats":{"number_of_genes":23,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC10612"],"biotype":"protein_coding","hgnc_id":"HGNC:23437","gene_name":"aldo-keto reductase family 1 member E2","omim_gene":["617451"],"alias_name":null,"gene_symbol":"AKR1E2","hgnc_symbol":"AKR1E2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:4828821-4890254","ensembl_id":"ENSG00000165568"}},"GRch38":{"90":{"location":"10:4786629-4848062","ensembl_id":"ENSG00000165568"}}},"hgnc_date_symbol_changed":"2009-09-09"},"entity_type":"gene","entity_name":"AKR1E2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26622071","26622071"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Cataract, MONDO:0005129, AKR1E2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne 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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":["TEN-M1"],"biotype":"protein_coding","hgnc_id":"HGNC:8117","gene_name":"teneurin transmembrane protein 1","omim_gene":["300588"],"alias_name":null,"gene_symbol":"TENM1","hgnc_symbol":"TENM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:123509753-124097666","ensembl_id":"ENSG00000009694"}},"GRch38":{"90":{"location":"X:124375903-124963817","ensembl_id":"ENSG00000009694"}}},"hgnc_date_symbol_changed":"2012-10-02"},"entity_type":"gene","entity_name":"TENM1","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":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":["ABP-280"],"biotype":"protein_coding","hgnc_id":"HGNC:3754","gene_name":"filamin A","omim_gene":["300017"],"alias_name":["actin binding protein 280","alpha filamin"],"gene_symbol":"FLNA","hgnc_symbol":"FLNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153576892-153603006","ensembl_id":"ENSG00000196924"}},"GRch38":{"90":{"location":"X:154348524-154374638","ensembl_id":"ENSG00000196924"}}},"hgnc_date_symbol_changed":"1993-03-18"},"entity_type":"gene","entity_name":"FLNA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29706646","34077496","25817843"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Heterotopia, periventricular, 1, MIM#300049"],"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":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. 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If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20561","HsT18960","nclf"],"biotype":"protein_coding","hgnc_id":"HGNC:2077","gene_name":"CLN6, transmembrane ER protein","omim_gene":["606725"],"alias_name":null,"gene_symbol":"CLN6","hgnc_symbol":"CLN6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:68499330-68549549","ensembl_id":"ENSG00000128973"}},"GRch38":{"90":{"location":"15:68206992-68257211","ensembl_id":"ENSG00000128973"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"CLN6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39213953"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neuronal Ceroid Lipofuscinosis 6, MIM#601780"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["TRKC"],"biotype":"protein_coding","hgnc_id":"HGNC:8033","gene_name":"neurotrophic receptor tyrosine kinase 3","omim_gene":["191316"],"alias_name":null,"gene_symbol":"NTRK3","hgnc_symbol":"NTRK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:88418230-88799999","ensembl_id":"ENSG00000140538"}},"GRch38":{"90":{"location":"15:87859751-88256768","ensembl_id":"ENSG00000140538"}}},"hgnc_date_symbol_changed":"1991-07-18"},"entity_type":"gene","entity_name":"NTRK3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["Congenital heart disease, MONDO:0005453"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart 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alpha","omim_gene":["601239"],"alias_name":["dystrophin-related protein 3"],"gene_symbol":"DTNA","hgnc_symbol":"DTNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:32073254-32471808","ensembl_id":"ENSG00000134769"}},"GRch38":{"90":{"location":"18:34493290-34891844","ensembl_id":"ENSG00000134769"}}},"hgnc_date_symbol_changed":"1998-02-11"},"entity_type":"gene","entity_name":"DTNA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["Congenital heart disease, MONDO:0005453"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:663","gene_name":"arginase 1","omim_gene":["608313"],"alias_name":null,"gene_symbol":"ARG1","hgnc_symbol":"ARG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:131894284-131905472","ensembl_id":"ENSG00000118520"}},"GRch38":{"90":{"location":"6:131573144-131584332","ensembl_id":"ENSG00000118520"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ARG1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Argininemia, MIM# 207800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:13829","gene_name":"Wnt family member 10A","omim_gene":["606268"],"alias_name":null,"gene_symbol":"WNT10A","hgnc_symbol":"WNT10A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219745085-219764303","ensembl_id":"ENSG00000135925"}},"GRch38":{"90":{"location":"2:218880363-218899581","ensembl_id":"ENSG00000135925"}}},"hgnc_date_symbol_changed":"2001-07-13"},"entity_type":"gene","entity_name":"WNT10A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19559398","30426266"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Odontoonychodermal dysplasia 257980 AR Schopf-Schulz-Passarge syndrome 224750 AR Tooth agenesis, selective, 4 150400 AR, AD"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":97,"hash_id":null,"name":"Desmosomal disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nDesmosomal disorders typically affect skin, hair and heart, causing blistering/peeling, alopecia/hypotrichosis and cardiomyopathy.","status":"public","version":"1.4","version_created":"2026-03-24T17:36:11.745191+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066; Alopecia","HP:0001596"],"stats":{"number_of_genes":14,"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":["L27"],"biotype":"protein_coding","hgnc_id":"HGNC:10328","gene_name":"ribosomal protein L27","omim_gene":["607526"],"alias_name":["60S ribosomal protein L27"],"gene_symbol":"RPL27","hgnc_symbol":"RPL27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:41150290-41154976","ensembl_id":"ENSG00000131469"}},"GRch38":{"90":{"location":"17:42998273-43002959","ensembl_id":"ENSG00000131469"}}},"hgnc_date_symbol_changed":"1994-05-16"},"entity_type":"gene","entity_name":"RPL27","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25424902"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 16, MIM# 617408"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":98,"hash_id":null,"name":"Diamond Blackfan anaemia","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nDiamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:\r\n-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow\r\n-growth retardation\r\n-craniofacial, upper limb, heart, and urinary system congenital malformations.\r\n\r\nIncreased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.\r\n\r\nDBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.\r\n\r\nPlease also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.","status":"public","version":"1.16","version_created":"2026-03-17T20:20:46.699102+11:00","relevant_disorders":["Anemia","HP:0001903; Abnormality of thumb morphology","HP:0001172"],"stats":{"number_of_genes":28,"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":["KIAA0089"],"biotype":"protein_coding","hgnc_id":"HGNC:28956","gene_name":"glycerol-3-phosphate dehydrogenase 1 like","omim_gene":["611778"],"alias_name":null,"gene_symbol":"GPD1L","hgnc_symbol":"GPD1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:32147181-32210205","ensembl_id":"ENSG00000152642"}},"GRch38":{"90":{"location":"3:32105689-32168713","ensembl_id":"ENSG00000152642"}}},"hgnc_date_symbol_changed":"2004-07-29"},"entity_type":"gene","entity_name":"GPD1L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17967977","19666841"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Brugada syndrome 2, MIM# 611777"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed","cardiac"],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LQT10"],"biotype":"protein_coding","hgnc_id":"HGNC:10592","gene_name":"sodium voltage-gated channel beta subunit 4","omim_gene":["608256"],"alias_name":null,"gene_symbol":"SCN4B","hgnc_symbol":"SCN4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118004092-118023603","ensembl_id":"ENSG00000177098"}},"GRch38":{"90":{"location":"11:118133377-118152888","ensembl_id":"ENSG00000177098"}}},"hgnc_date_symbol_changed":"1990-09-30"},"entity_type":"gene","entity_name":"SCN4B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome 10, MIM#\t611819"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"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":["SANG","NESP-AS","NESPAS","GNAS1AS","NCRNA00075"],"biotype":"antisense_RNA","hgnc_id":"HGNC:24872","gene_name":"GNAS antisense RNA 1","omim_gene":["610540"],"alias_name":["GNAS antisense","non-protein coding RNA 75"],"gene_symbol":"GNAS-AS1","hgnc_symbol":"GNAS-AS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:57393974-57425958","ensembl_id":"ENSG00000235590"}},"GRch38":{"90":{"location":"20:58818919-58850903","ensembl_id":"ENSG00000235590"}}},"hgnc_date_symbol_changed":"2010-11-25"},"entity_type":"gene","entity_name":"GNAS-AS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22378814","15592469","29959430","25005734"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Pseudohypoparathyroidism type 1b MIM no: 603233"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["MAD","MADA"],"biotype":"protein_coding","hgnc_id":"HGNC:468","gene_name":"adenosine monophosphate deaminase 1","omim_gene":["102770"],"alias_name":["AMPD isoform M","skeletal muscle AMPD"],"gene_symbol":"AMPD1","hgnc_symbol":"AMPD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115215719-115238239","ensembl_id":"ENSG00000116748"}},"GRch38":{"90":{"location":"1:114673090-114695618","ensembl_id":"ENSG00000116748"}}},"hgnc_date_symbol_changed":"1989-05-19"},"entity_type":"gene","entity_name":"AMPD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21343608","27296017"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Myopathy due to myoadenylate deaminase deficiency (MIM#615511)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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:2661","gene_name":"DAB1, reelin adaptor protein","omim_gene":["603448"],"alias_name":null,"gene_symbol":"DAB1","hgnc_symbol":"DAB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:57460451-59012406","ensembl_id":"ENSG00000173406"}},"GRch38":{"90":{"location":"1:56994778-58546734","ensembl_id":"ENSG00000173406"}}},"hgnc_date_symbol_changed":"1998-06-12"},"entity_type":"gene","entity_name":"DAB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28686858","33928188"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Spinocerebellar ataxia 37 MIM#615945","Neurodevelopmental disorder, MONDO:0700092, DAB1-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["PGR4"],"biotype":"protein_coding","hgnc_id":"HGNC:19061","gene_name":"free fatty acid receptor 4","omim_gene":["609044"],"alias_name":null,"gene_symbol":"FFAR4","hgnc_symbol":"FFAR4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:95326422-95364237","ensembl_id":"ENSG00000186188"}},"GRch38":{"90":{"location":"10:93566665-93604480","ensembl_id":"ENSG00000186188"}}},"hgnc_date_symbol_changed":"2012-11-16"},"entity_type":"gene","entity_name":"FFAR4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22343897","34043793"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Obesity, susceptibility to} MIM#607514"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["DC2"],"biotype":"protein_coding","hgnc_id":"HGNC:24448","gene_name":"oligosaccharyltransferase complex non-catalytic subunit","omim_gene":null,"alias_name":["DC2 protein"],"gene_symbol":"OSTC","hgnc_symbol":"OSTC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:109571740-109588976","ensembl_id":"ENSG00000198856"}},"GRch38":{"90":{"location":"4:108650584-108667820","ensembl_id":"ENSG00000198856"}}},"hgnc_date_symbol_changed":"2008-12-16"},"entity_type":"gene","entity_name":"OSTC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32267060"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Oligosaccharyltransferase complex-congenital disorders of glycosylation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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:3601","gene_name":"fibulin 2","omim_gene":["135821"],"alias_name":null,"gene_symbol":"FBLN2","hgnc_symbol":"FBLN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:13573824-13679922","ensembl_id":"ENSG00000163520"}},"GRch38":{"90":{"location":"3:13549131-13638422","ensembl_id":"ENSG00000163520"}}},"hgnc_date_symbol_changed":"1994-02-24"},"entity_type":"gene","entity_name":"FBLN2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["33971972"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Pulmonary arterial hypertension MONDO:0015924, FBLN2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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:1965","gene_name":"cholinergic receptor nicotinic delta subunit","omim_gene":["100720"],"alias_name":["acetylcholine receptor, nicotinic, delta (muscle)"],"gene_symbol":"CHRND","hgnc_symbol":"CHRND","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:233390703-233401377","ensembl_id":"ENSG00000135902"}},"GRch38":{"90":{"location":"2:232525993-232536667","ensembl_id":"ENSG00000135902"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CHRND","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["38982518"],"evidence":["Expert Review Red","Literature"],"phenotypes":["congenital myopathy MONDO:0019952"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KMT8D"],"biotype":"protein_coding","hgnc_id":"HGNC:13993","gene_name":"PR/SET domain 8","omim_gene":["616639"],"alias_name":null,"gene_symbol":"PRDM8","hgnc_symbol":"PRDM8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:81105033-81125483","ensembl_id":"ENSG00000152784"}},"GRch38":{"90":{"location":"4:80183879-80204329","ensembl_id":"ENSG00000152784"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"PRDM8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 2296154","35034233"],"evidence":["Expert Review Red","Literature"],"phenotypes":["?Epilepsy, progressive myoclonic, 10 MIM#616640"],"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":["VESPR","CD232"],"biotype":"protein_coding","hgnc_id":"HGNC:9106","gene_name":"plexin C1","omim_gene":["604259"],"alias_name":null,"gene_symbol":"PLXNC1","hgnc_symbol":"PLXNC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:94542499-94701451","ensembl_id":"ENSG00000136040"}},"GRch38":{"90":{"location":"12:94148723-94307675","ensembl_id":"ENSG00000136040"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"PLXNC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36808730"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Malformations of cortical development"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CIA30","CGI-65"],"biotype":"protein_coding","hgnc_id":"HGNC:18828","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 1","omim_gene":["606934"],"alias_name":null,"gene_symbol":"NDUFAF1","hgnc_symbol":"NDUFAF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:41679551-41694717","ensembl_id":"ENSG00000137806"}},"GRch38":{"90":{"location":"15:41387349-41402519","ensembl_id":"ENSG00000137806"}}},"hgnc_date_symbol_changed":"2004-02-02"},"entity_type":"gene","entity_name":"NDUFAF1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17557076","21931170","16218961","24963768","34975718"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234"],"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":["P65"],"biotype":"protein_coding","hgnc_id":"HGNC:11509","gene_name":"synaptotagmin 1","omim_gene":["185605"],"alias_name":null,"gene_symbol":"SYT1","hgnc_symbol":"SYT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:79257773-79845788","ensembl_id":"ENSG00000067715"}},"GRch38":{"90":{"location":"12:78863993-79452008","ensembl_id":"ENSG00000067715"}}},"hgnc_date_symbol_changed":"1990-03-14"},"entity_type":"gene","entity_name":"SYT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30107533"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Baker-Gordon syndrome, MIM# 618218","MONDO:0033864"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.610","version_created":"2026-03-31T18:57:58.699788+11:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATG8G"],"biotype":"protein_coding","hgnc_id":"HGNC:34390","gene_name":"microtubule associated protein 1 light chain 3 beta 2","omim_gene":null,"alias_name":null,"gene_symbol":"MAP1LC3B2","hgnc_symbol":"MAP1LC3B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:116985911-116992186","ensembl_id":"ENSG00000258102"}},"GRch38":{"90":{"location":"12:116548105-116576448","ensembl_id":"ENSG00000258102"}}},"hgnc_date_symbol_changed":"2008-07-04"},"entity_type":"gene","entity_name":"MAP1LC3B2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["35748970","33310865"],"evidence":["Expert Review Red","Other"],"phenotypes":["Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related","Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":231,"hash_id":null,"name":"Defects of intrinsic and innate immunity","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.35","version_created":"2026-03-25T18:20:57.051027+11:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:443","gene_name":"ALS2, alsin Rho guanine nucleotide exchange factor","omim_gene":["606352"],"alias_name":["alsin"],"gene_symbol":"ALS2","hgnc_symbol":"ALS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:202565277-202645912","ensembl_id":"ENSG00000003393"}},"GRch38":{"90":{"location":"2:201700554-201781189","ensembl_id":"ENSG00000003393"}}},"hgnc_date_symbol_changed":"1992-11-19"},"entity_type":"gene","entity_name":"ALS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["ClinGen","Expert Review Red"],"phenotypes":["ALS2-related motor neuron disease, MONDO:0100227"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4180","gene_name":"1,4-alpha-glucan branching enzyme 1","omim_gene":["607839"],"alias_name":["glycogen branching enzyme","Andersen disease","glycogen storage disease type IV"],"gene_symbol":"GBE1","hgnc_symbol":"GBE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:81538850-81811312","ensembl_id":"ENSG00000114480"}},"GRch38":{"90":{"location":"3:81489699-81762161","ensembl_id":"ENSG00000114480"}}},"hgnc_date_symbol_changed":"1993-06-21"},"entity_type":"gene","entity_name":"GBE1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Glycogen storage disease IV, MIM#232500"],"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":["SPG49"],"biotype":"protein_coding","hgnc_id":"HGNC:20582","gene_name":"cytochrome P450 family 2 subfamily U member 1","omim_gene":["610670"],"alias_name":["spastic paraplegia 49"],"gene_symbol":"CYP2U1","hgnc_symbol":"CYP2U1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:108852525-108874613","ensembl_id":"ENSG00000155016"}},"GRch38":{"90":{"location":"4:107931369-107953457","ensembl_id":"ENSG00000155016"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"CYP2U1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Spastic paraplegia 56, autosomal recessive, MIM#615030"],"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":["CPAH"],"biotype":"protein_coding","hgnc_id":"HGNC:17245","gene_name":"carboxypeptidase A6","omim_gene":["609562"],"alias_name":null,"gene_symbol":"CPA6","hgnc_symbol":"CPA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:68334360-68658620","ensembl_id":"ENSG00000165078"}},"GRch38":{"90":{"location":"8:67422038-67746385","ensembl_id":"ENSG00000165078"}}},"hgnc_date_symbol_changed":"2002-05-29"},"entity_type":"gene","entity_name":"CPA6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25875328","21922598","23105115"],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Epilepsy, familial temporal lobe, 5, MIM#614417","Febrile seizures, familial, 11, MIM#614418"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["refuted"],"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":["BRI","E25B","E3-16","BRICD2B","BRI2"],"biotype":"protein_coding","hgnc_id":"HGNC:6174","gene_name":"integral membrane protein 2B","omim_gene":["603904"],"alias_name":["BRICHOS domain containing 2B"],"gene_symbol":"ITM2B","hgnc_symbol":"ITM2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:48807294-48837063","ensembl_id":"ENSG00000136156"}},"GRch38":{"90":{"location":"13:48233158-48270357","ensembl_id":"ENSG00000136156"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"ITM2B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24026677"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":283,"hash_id":null,"name":"Congenital Stationary Night Blindness","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"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":"0.24","version_created":"2026-01-09T18:46:33.929328+11:00","relevant_disorders":["Congenital stationary night blindness","HP:0007642; Retinal dystrophy","HP:0000556"],"stats":{"number_of_genes":21,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC: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":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24199812"],"evidence":["Expert Review Green","Expert Review Red","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATF1","ATF2","HFB1-GDNF"],"biotype":"protein_coding","hgnc_id":"HGNC:4232","gene_name":"glial cell derived neurotrophic factor","omim_gene":["600837"],"alias_name":["astrocyte-derived trophic factor","glial cell line derived neurotrophic factor","glial derived neurotrophic factor"],"gene_symbol":"GDNF","hgnc_symbol":"GDNF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:37812779-37839788","ensembl_id":"ENSG00000168621"}},"GRch38":{"90":{"location":"5:37812677-37839686","ensembl_id":"ENSG00000168621"}}},"hgnc_date_symbol_changed":"1995-05-04"},"entity_type":"gene","entity_name":"GDNF","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["18276829","8896568","8657308","11973622"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["{Hirschsprung disease, susceptibility to, 3} MIM#613711"],"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":["NRP","VEGF165R","CD304"],"biotype":"protein_coding","hgnc_id":"HGNC:8004","gene_name":"neuropilin 1","omim_gene":["602069"],"alias_name":null,"gene_symbol":"NRP1","hgnc_symbol":"NRP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:33466420-33625190","ensembl_id":"ENSG00000099250"}},"GRch38":{"90":{"location":"10:33177492-33336262","ensembl_id":"ENSG00000099250"}}},"hgnc_date_symbol_changed":"1998-12-23"},"entity_type":"gene","entity_name":"NRP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34636164","28334861"],"evidence":["Literature","Expert Review Red","Expert Review Red","Literature"],"phenotypes":["Hypogonadotropic hypogonadism MONDO:0018555"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["UQCR4"],"biotype":"protein_coding","hgnc_id":"HGNC:2579","gene_name":"cytochrome c1","omim_gene":["123980"],"alias_name":null,"gene_symbol":"CYC1","hgnc_symbol":"CYC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145149930-145152428","ensembl_id":"ENSG00000179091"}},"GRch38":{"90":{"location":"8:144095027-144097525","ensembl_id":"ENSG00000179091"}}},"hgnc_date_symbol_changed":"1988-07-06"},"entity_type":"gene","entity_name":"CYC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23910460"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Mitochondrial complex III deficiency, nuclear type 6, MIM#\t615453"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3400,"hash_id":null,"name":"Liver Failure_Paediatric","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.","status":"public","version":"1.33","version_created":"2026-01-08T17:48:33.703909+11:00","relevant_disorders":["Liver failure","HP:0001399"],"stats":{"number_of_genes":68,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["p51","SHFM4","EEC3","p63","p73L","OFC8","KET","p73H","NBP","p53CP"],"biotype":"protein_coding","hgnc_id":"HGNC:15979","gene_name":"tumor protein p63","omim_gene":["603273"],"alias_name":null,"gene_symbol":"TP63","hgnc_symbol":"TP63","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:189349205-189615068","ensembl_id":"ENSG00000073282"}},"GRch38":{"90":{"location":"3:189631416-189897279","ensembl_id":"ENSG00000073282"}}},"hgnc_date_symbol_changed":"2002-04-18"},"entity_type":"gene","entity_name":"TP63","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22065540"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Split-hand/foot malformation 4, MIM# 605289"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3564,"hash_id":null,"name":"Amelogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.14","version_created":"2026-01-09T15:02:14.439855+11:00","relevant_disorders":["Amelogenesis imperfecta","HP:0000705"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11199","gene_name":"SRY-box 3","omim_gene":["313430"],"alias_name":null,"gene_symbol":"SOX3","hgnc_symbol":"SOX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:139585152-139587225","ensembl_id":"ENSG00000134595"}},"GRch38":{"90":{"location":"X:140502985-140505116","ensembl_id":"ENSG00000134595"}}},"hgnc_date_symbol_changed":"1993-11-30"},"entity_type":"gene","entity_name":"SOX3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["15800844","29175558","30125608","12428212"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123","Panhypopituitarism, X-linked, MIM#312000"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["SV/CNV"],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"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:6948","gene_name":"minichromosome maintenance complex component 5","omim_gene":["602696"],"alias_name":null,"gene_symbol":"MCM5","hgnc_symbol":"MCM5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:35796056-35821423","ensembl_id":"ENSG00000100297"}},"GRch38":{"90":{"location":"22:35400063-35425430","ensembl_id":"ENSG00000100297"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"MCM5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28198391"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Meier-Gorlin syndrome 8 (MIM#617564)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"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:23663","gene_name":"vitamin K epoxide reductase complex subunit 1","omim_gene":["608547"],"alias_name":null,"gene_symbol":"VKORC1","hgnc_symbol":"VKORC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31102163-31107301","ensembl_id":"ENSG00000167397"}},"GRch38":{"90":{"location":"16:31090842-31095980","ensembl_id":"ENSG00000167397"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"VKORC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12704386","14765194","24963046","18315553"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM#607473"],"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":["NY-BR-85"],"biotype":"protein_coding","hgnc_id":"HGNC:25088","gene_name":"shugoshin 1","omim_gene":["609168"],"alias_name":null,"gene_symbol":"SGO1","hgnc_symbol":"SGO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:20202085-20227784","ensembl_id":"ENSG00000129810"}},"GRch38":{"90":{"location":"3:20160593-20186292","ensembl_id":"ENSG00000129810"}}},"hgnc_date_symbol_changed":"2016-03-18"},"entity_type":"gene","entity_name":"SGO1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25282101"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Chronic atrial and intestinal dysrhythmia, 616201 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":["HGPS","MADA"],"biotype":"protein_coding","hgnc_id":"HGNC:6636","gene_name":"lamin A/C","omim_gene":["150330"],"alias_name":["mandibuloacral dysplasia type A"],"gene_symbol":"LMNA","hgnc_symbol":"LMNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156052364-156109880","ensembl_id":"ENSG00000160789"}},"GRch38":{"90":{"location":"1:156082573-156140089","ensembl_id":"ENSG00000160789"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"LMNA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene","BabySeq Category B gene"],"phenotypes":["Cardiomyopathy, dilated, 1A, MIM# 115200"],"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":["GABAT"],"biotype":"protein_coding","hgnc_id":"HGNC:23","gene_name":"4-aminobutyrate aminotransferase","omim_gene":["137150"],"alias_name":["4-aminobutyrate transaminase"],"gene_symbol":"ABAT","hgnc_symbol":"ABAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8768422-8878432","ensembl_id":"ENSG00000183044"}},"GRch38":{"90":{"location":"16:8674565-8784575","ensembl_id":"ENSG00000183044"}}},"hgnc_date_symbol_changed":"1996-03-13"},"entity_type":"gene","entity_name":"ABAT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["GABA-transaminase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0803","AKAP350","AKAP450","CG-NAP","YOTIAO","HYPERION","PRKA9","MU-RMS-40.16A","PPP1R45","LQT11"],"biotype":"protein_coding","hgnc_id":"HGNC:379","gene_name":"A-kinase anchoring protein 9","omim_gene":["604001"],"alias_name":["A-kinase anchoring protein 450","AKAP9-BRAF fusion protein","AKAP120-like protein","centrosome- and golgi-localized protein kinase N-associated protein","protein kinase A anchoring protein 9","A-kinase anchor protein, 350kDa","protein phosphatase 1, regulatory subunit 45","yotiao"],"gene_symbol":"AKAP9","hgnc_symbol":"AKAP9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:91570181-91739987","ensembl_id":"ENSG00000127914"}},"GRch38":{"90":{"location":"7:91940867-92110673","ensembl_id":"ENSG00000127914"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"AKAP9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Long QT 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:620","gene_name":"amyloid beta precursor protein","omim_gene":["104760"],"alias_name":["peptidase nexin-II"],"gene_symbol":"APP","hgnc_symbol":"APP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:27252861-27543446","ensembl_id":"ENSG00000142192"}},"GRch38":{"90":{"location":"21:25880550-26171128","ensembl_id":"ENSG00000142192"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"APP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Alzheimer disease 1, familial"],"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":["B120","P270","C10rf4","BAF250","BAF250a"],"biotype":"protein_coding","hgnc_id":"HGNC:11110","gene_name":"AT-rich interaction domain 1A","omim_gene":["603024"],"alias_name":null,"gene_symbol":"ARID1A","hgnc_symbol":"ARID1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:27022524-27108595","ensembl_id":"ENSG00000117713"}},"GRch38":{"90":{"location":"1:26693236-26782104","ensembl_id":"ENSG00000117713"}}},"hgnc_date_symbol_changed":"2004-01-30"},"entity_type":"gene","entity_name":"ARID1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Coffin-Siris 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:753","gene_name":"asparagine synthetase (glutamine-hydrolyzing)","omim_gene":["108370"],"alias_name":null,"gene_symbol":"ASNS","hgnc_symbol":"ASNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:97481430-97501854","ensembl_id":"ENSG00000070669"}},"GRch38":{"90":{"location":"7:97852118-97872542","ensembl_id":"ENSG00000070669"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ASNS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Microcephaly, intellectual disability, cerebral atrophy & intractable seizures"],"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":["CMS"],"biotype":"protein_coding","hgnc_id":"HGNC:14258","gene_name":"CD2 associated protein","omim_gene":["604241"],"alias_name":null,"gene_symbol":"CD2AP","hgnc_symbol":"CD2AP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:47445525-47594999","ensembl_id":"ENSG00000198087"}},"GRch38":{"90":{"location":"6:47477789-47627263","ensembl_id":"ENSG00000198087"}}},"hgnc_date_symbol_changed":"2000-12-14"},"entity_type":"gene","entity_name":"CD2AP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Glomerulosclerosis, focal segmental, 3"],"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":["TRA2.10","MGC26544","TLX"],"biotype":"protein_coding","hgnc_id":"HGNC:6953","gene_name":"CD46 molecule","omim_gene":["120920"],"alias_name":null,"gene_symbol":"CD46","hgnc_symbol":"CD46","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:207925402-207968858","ensembl_id":"ENSG00000117335"}},"GRch38":{"90":{"location":"1:207752057-207795513","ensembl_id":"ENSG00000117335"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"CD46","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Haemolytic uraemic syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1951","gene_name":"cholinergic receptor muscarinic 2","omim_gene":["118493"],"alias_name":["acetylcholine receptor, muscarinic 2"],"gene_symbol":"CHRM2","hgnc_symbol":"CHRM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:136553416-136705002","ensembl_id":"ENSG00000181072"}},"GRch38":{"90":{"location":"7:136868669-137020255","ensembl_id":"ENSG00000181072"}}},"hgnc_date_symbol_changed":"1988-08-04"},"entity_type":"gene","entity_name":"CHRM2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Cardiomyopathy, dilated"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1956","gene_name":"cholinergic receptor nicotinic alpha 2 subunit","omim_gene":["118502"],"alias_name":["acetylcholine receptor, nicotinic, alpha 2 (neuronal)"],"gene_symbol":"CHRNA2","hgnc_symbol":"CHRNA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:27317279-27337400","ensembl_id":"ENSG00000120903"}},"GRch38":{"90":{"location":"8:27459761-27479883","ensembl_id":"ENSG00000120903"}}},"hgnc_date_symbol_changed":"1990-05-11"},"entity_type":"gene","entity_name":"CHRNA2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Epilepsy"],"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":["CLC1","ClC-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2019","gene_name":"chloride voltage-gated channel 1","omim_gene":["118425"],"alias_name":["Thomsen disease, autosomal dominant"],"gene_symbol":"CLCN1","hgnc_symbol":"CLCN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:143013219-143049176","ensembl_id":"ENSG00000188037"}},"GRch38":{"90":{"location":"7:143316126-143352083","ensembl_id":"ENSG00000188037"}}},"hgnc_date_symbol_changed":"1992-10-13"},"entity_type":"gene","entity_name":"CLCN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Myotonia congenita, recessive, MIM# 255700","Myotonia congenita, dominant, MIM# 160800"],"mode_of_inheritance":"BOTH monoallelic and 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":["ASAM","FLJ22415","ACAM"],"biotype":"protein_coding","hgnc_id":"HGNC:24039","gene_name":"CXADR like membrane protein","omim_gene":["611693"],"alias_name":["adipocyte-specific adhesion molecule","coxsackie- and adenovirus receptor-like membrane protein","adipocyte adhesion molecule"],"gene_symbol":"CLMP","hgnc_symbol":"CLMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:122943035-123065989","ensembl_id":"ENSG00000166250"}},"GRch38":{"90":{"location":"11:123069865-123195281","ensembl_id":"ENSG00000166250"}}},"hgnc_date_symbol_changed":"2011-01-27"},"entity_type":"gene","entity_name":"CLMP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Congenital short-bowel syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COD1","DKFZP586E1519"],"biotype":"protein_coding","hgnc_id":"HGNC:18620","gene_name":"component of oligomeric golgi complex 4","omim_gene":["606976"],"alias_name":null,"gene_symbol":"COG4","hgnc_symbol":"COG4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70514471-70557468","ensembl_id":"ENSG00000103051"}},"GRch38":{"90":{"location":"16:70480568-70523565","ensembl_id":"ENSG00000103051"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"COG4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Congenital disorder of glycosylation, type IIj"],"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":["RAB3GAP","KIAA0066","RAB3GAP130","WARBM1"],"biotype":"protein_coding","hgnc_id":"HGNC:17063","gene_name":"RAB3 GTPase activating protein catalytic subunit 1","omim_gene":["602536"],"alias_name":null,"gene_symbol":"RAB3GAP1","hgnc_symbol":"RAB3GAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:135809835-135933964","ensembl_id":"ENSG00000115839"}},"GRch38":{"90":{"location":"2:135052265-135176394","ensembl_id":"ENSG00000115839"}}},"hgnc_date_symbol_changed":"2005-08-23"},"entity_type":"gene","entity_name":"RAB3GAP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420"],"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":["FLJ16686"],"biotype":"protein_coding","hgnc_id":"HGNC:37261","gene_name":"death domain containing 1","omim_gene":["616979"],"alias_name":null,"gene_symbol":"DTHD1","hgnc_symbol":"DTHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:36283244-36347378","ensembl_id":"ENSG00000197057"}},"GRch38":{"90":{"location":"4:36281622-36345756","ensembl_id":"ENSG00000197057"}}},"hgnc_date_symbol_changed":"2009-10-02"},"entity_type":"gene","entity_name":"DTHD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Leber congenital amaurosis with myopathy"],"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":["EIF-2Balpha","EIF-2B","EIF2BA"],"biotype":"protein_coding","hgnc_id":"HGNC:3257","gene_name":"eukaryotic translation initiation factor 2B subunit alpha","omim_gene":["606686"],"alias_name":null,"gene_symbol":"EIF2B1","hgnc_symbol":"EIF2B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:124104953-124118313","ensembl_id":"ENSG00000111361"}},"GRch38":{"90":{"location":"12:123620406-123633766","ensembl_id":"ENSG00000111361"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"EIF2B1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Leukoencephalopathy with vanishing white matter"],"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":["RP11-479E16.1","FLJ31204","FAAH-2"],"biotype":"protein_coding","hgnc_id":"HGNC:26440","gene_name":"fatty acid amide hydrolase 2","omim_gene":["300654"],"alias_name":null,"gene_symbol":"FAAH2","hgnc_symbol":"FAAH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:57313139-57515629","ensembl_id":"ENSG00000165591"}},"GRch38":{"90":{"location":"X:57286706-57489196","ensembl_id":"ENSG00000165591"}}},"hgnc_date_symbol_changed":"2006-11-24"},"entity_type":"gene","entity_name":"FAAH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Autism spectrum disorder"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kir3.4","CIR","KATP1","GIRK4","LQT13"],"biotype":"protein_coding","hgnc_id":"HGNC:6266","gene_name":"potassium voltage-gated channel subfamily J member 5","omim_gene":["600734"],"alias_name":null,"gene_symbol":"KCNJ5","hgnc_symbol":"KCNJ5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:128761251-128790930","ensembl_id":"ENSG00000120457"}},"GRch38":{"90":{"location":"11:128891356-128921035","ensembl_id":"ENSG00000120457"}}},"hgnc_date_symbol_changed":"1995-04-13"},"entity_type":"gene","entity_name":"KCNJ5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Long QT 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:14263","gene_name":"RAB23, member RAS oncogene family","omim_gene":["606144"],"alias_name":null,"gene_symbol":"RAB23","hgnc_symbol":"RAB23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:57053607-57087078","ensembl_id":"ENSG00000112210"}},"GRch38":{"90":{"location":"6:57186992-57222314","ensembl_id":"ENSG00000112210"}}},"hgnc_date_symbol_changed":"2000-12-18"},"entity_type":"gene","entity_name":"RAB23","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Carpenter syndrome (MIM#201000)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9608","gene_name":"parathyroid hormone 1 receptor","omim_gene":["168468"],"alias_name":null,"gene_symbol":"PTH1R","hgnc_symbol":"PTH1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46919236-46945287","ensembl_id":"ENSG00000160801"}},"GRch38":{"90":{"location":"3:46877746-46903799","ensembl_id":"ENSG00000160801"}}},"hgnc_date_symbol_changed":"2008-11-18"},"entity_type":"gene","entity_name":"PTH1R","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Failure of tooth eruption, primary MIM#125350","Eiken syndrome MIM#600002","Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400","Chondrodysplasia, Blomstrand type MIM#215045"],"mode_of_inheritance":"BOTH monoallelic and 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":["PXAAA1","PAF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:8859","gene_name":"peroxisomal biogenesis factor 6","omim_gene":["601498"],"alias_name":null,"gene_symbol":"PEX6","hgnc_symbol":"PEX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42931608-42946958","ensembl_id":"ENSG00000124587"}},"GRch38":{"90":{"location":"6:42963870-42979220","ensembl_id":"ENSG00000124587"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)"],"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":["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":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Norrie disease, MIM# 310600"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MYH2A","MYHSA2","MyHC-IIa","MYHas8","MyHC-2A"],"biotype":"protein_coding","hgnc_id":"HGNC:7572","gene_name":"myosin heavy chain 2","omim_gene":["160740"],"alias_name":null,"gene_symbol":"MYH2","hgnc_symbol":"MYH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:10424465-10453274","ensembl_id":"ENSG00000125414"}},"GRch38":{"90":{"location":"17:10521148-10549957","ensembl_id":"ENSG00000125414"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MYH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Proximal myopathy and ophthalmoplegia, MIM# 605637"],"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":["MEGF7","CLSS","LRP-4","SOST2"],"biotype":"protein_coding","hgnc_id":"HGNC:6696","gene_name":"LDL receptor related protein 4","omim_gene":["604270"],"alias_name":null,"gene_symbol":"LRP4","hgnc_symbol":"LRP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:46878419-46940193","ensembl_id":"ENSG00000134569"}},"GRch38":{"90":{"location":"11:46856868-46918642","ensembl_id":"ENSG00000134569"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"LRP4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene","BeginNGS"],"phenotypes":["Myasthenic syndrome, congenital, 17 , MIM#616304"],"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":["FAF"],"biotype":"protein_coding","hgnc_id":"HGNC:3587","gene_name":"Fanconi anemia complementation group F","omim_gene":["613897"],"alias_name":null,"gene_symbol":"FANCF","hgnc_symbol":"FANCF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:22644079-22647387","ensembl_id":"ENSG00000183161"}},"GRch38":{"90":{"location":"11:22622519-22626787","ensembl_id":"ENSG00000183161"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCF","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red","BeginNGS"],"phenotypes":["Fanconi anaemia, MIM#603467","Fanconi anaemia"],"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":["RNF55","c-Cbl"],"biotype":"protein_coding","hgnc_id":"HGNC:1541","gene_name":"Cbl proto-oncogene","omim_gene":["165360"],"alias_name":["oncogene CBL2"],"gene_symbol":"CBL","hgnc_symbol":"CBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119076752-119178859","ensembl_id":"ENSG00000110395"}},"GRch38":{"90":{"location":"11:119206276-119313926","ensembl_id":"ENSG00000110395"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"CBL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563"],"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":["DAGK6","DGK"],"biotype":"protein_coding","hgnc_id":"HGNC:2852","gene_name":"diacylglycerol kinase epsilon","omim_gene":["601440"],"alias_name":null,"gene_symbol":"DGKE","hgnc_symbol":"DGKE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:54911460-54946036","ensembl_id":"ENSG00000153933"}},"GRch38":{"90":{"location":"17:56834099-56869567","ensembl_id":"ENSG00000153933"}}},"hgnc_date_symbol_changed":"1998-10-02"},"entity_type":"gene","entity_name":"DGKE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Haemolytic uraemic syndrome, atypical"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10257","gene_name":"receptor tyrosine kinase like orphan receptor 2","omim_gene":["602337"],"alias_name":null,"gene_symbol":"ROR2","hgnc_symbol":"ROR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94325373-94712444","ensembl_id":"ENSG00000169071"}},"GRch38":{"90":{"location":"9:91563091-91950162","ensembl_id":"ENSG00000169071"}}},"hgnc_date_symbol_changed":"2000-02-29"},"entity_type":"gene","entity_name":"ROR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Robinow syndrome, autosomal recessive - MIM#268310"],"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":["Nav1.1","GEFSP2","HBSCI","NAC1","SMEI"],"biotype":"protein_coding","hgnc_id":"HGNC:10585","gene_name":"sodium voltage-gated channel alpha subunit 1","omim_gene":["182389"],"alias_name":null,"gene_symbol":"SCN1A","hgnc_symbol":"SCN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166845670-166984523","ensembl_id":"ENSG00000144285"}},"GRch38":{"90":{"location":"2:165984641-166149214","ensembl_id":"ENSG00000144285"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SCN1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20301494"],"evidence":["Expert Review Red","BabySeq Category A gene","BeginNGS"],"phenotypes":["Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403","Developmental and epileptic encephalopathy 6B, non-Dravet\t, MIM#619317"],"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":["AIM-1","OCA4"],"biotype":"protein_coding","hgnc_id":"HGNC:16472","gene_name":"solute carrier family 45 member 2","omim_gene":["606202"],"alias_name":null,"gene_symbol":"SLC45A2","hgnc_symbol":"SLC45A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:33944721-33984835","ensembl_id":"ENSG00000164175"}},"GRch38":{"90":{"location":"5:33944616-33984730","ensembl_id":"ENSG00000164175"}}},"hgnc_date_symbol_changed":"2005-10-06"},"entity_type":"gene","entity_name":"SLC45A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Albinism, oculocutaneous, type IV, MIM# 606574"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11274","gene_name":"spectrin beta, erythrocytic","omim_gene":["182870"],"alias_name":["spherocytosis, clinical type I"],"gene_symbol":"SPTB","hgnc_symbol":"SPTB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:65213002-65346601","ensembl_id":"ENSG00000070182"}},"GRch38":{"90":{"location":"14:64746283-64879883","ensembl_id":"ENSG00000070182"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SPTB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review"],"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":["MGC2793"],"biotype":"protein_coding","hgnc_id":"HGNC:28423","gene_name":"SH3 and cysteine rich domain 3","omim_gene":["615521"],"alias_name":null,"gene_symbol":"STAC3","hgnc_symbol":"STAC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57637236-57644976","ensembl_id":"ENSG00000185482"}},"GRch38":{"90":{"location":"12:57243453-57251193","ensembl_id":"ENSG00000185482"}}},"hgnc_date_symbol_changed":"2004-05-19"},"entity_type":"gene","entity_name":"STAC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28411587","30168660","23736855","28777491"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Myopathy, congenital, Baily-Bloch, MIM# 255995"],"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":["GALA"],"biotype":"protein_coding","hgnc_id":"HGNC:4296","gene_name":"galactosidase alpha","omim_gene":["300644"],"alias_name":null,"gene_symbol":"GLA","hgnc_symbol":"GLA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100652791-100662913","ensembl_id":"ENSG00000102393"}},"GRch38":{"90":{"location":"X:101397803-101407925","ensembl_id":"ENSG00000102393"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GLA","confidence_level":"0","penetrance":"Complete","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":["28613767","37259462"],"evidence":["Literature","ClinGen"],"phenotypes":["Fabry disease (MIM 301500)","Fabry disease, cardiac variant (MIM 301500)"],"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":4456,"hash_id":null,"name":"Genomic newborn screening: ICoNS","disease_group":"Screening","disease_sub_group":"","description":"UNDER CONSTRUCTION. DO NOT USE.","status":"public","version":"0.35","version_created":"2026-03-13T07:28:16.180055+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37430-Loss","verbose_name":"Miller-Dieker syndrome, chromosome 17p13.3 deletion syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":[],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Miller-Dieker lissencephaly syndrome, MIM#\t247200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"17","grch37_coordinates":null,"grch38_coordinates":[1344539,2685615],"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":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37493-Loss","verbose_name":"1q43q44 microdeletion syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["28283832","31929334","31830750","30853971"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["1q43q44 microdeletion syndrome","intellectual disability","seizures","microcephaly","corpus callosum abnormalities"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"1","grch37_coordinates":null,"grch38_coordinates":[243124428,245154985],"tags":["SV/CNV"],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37429-Loss","verbose_name":"Wolf-Hirschhorn syndrome, chromosome 4p16.3 terminal deletion","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":[],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Wolf-Hirschhorn syndrome, MIM#\t194190","intellectual disability","growth retardation","seizures","dysmorphic features"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"4","grch37_coordinates":null,"grch38_coordinates":[337779,2009235],"tags":["SV/CNV"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37433-Loss","verbose_name":"DiGeorge syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":[],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["DiGeorge syndrome MIM#188400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","chromosome":"22","grch37_coordinates":null,"grch38_coordinates":[18924718,20299686],"tags":[],"panel":{"id":235,"hash_id":null,"name":"Severe Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:\r\n- SCID with absent T present B cells\r\n- SCID with absent T absent B cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.30","version_created":"2026-03-02T10:27:29.970169+11:00","relevant_disorders":["Severe combined immunodeficiency","HP:0004430"],"stats":{"number_of_genes":28,"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":"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":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37441-Loss","verbose_name":"Potocki-Shaffer syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["PMID: 20140962"],"evidence":["Expert list","Expert Review Green","Expert list"],"phenotypes":["Potocki-Shaffer syndrome MIM#601224","intellectual disability","multiple exostoses","biparietal foramina"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","chromosome":"11","grch37_coordinates":null,"grch38_coordinates":[43873250,46130899],"tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37400-Loss","verbose_name":"Chromosome 16p11.2 deletion syndrome, proximal","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":[],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Chromosome 16p11.2 deletion syndrome, proximal, MIM#\t611913","autism","intellectual disability","seizures"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"16","grch37_coordinates":null,"grch38_coordinates":[29638675,30188534],"tags":["SV/CNV"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37441-Loss","verbose_name":"11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":"","required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["15852040","20140962","16319823"],"evidence":["Expert Review Green","ClinGen","NHS GMS"],"phenotypes":["parietal foramina","mental retardation","intellectual disability","ophthalmologic anomalies","Potocki-Shaffer syndrome","myopia","biparietal foramina","enlarged anterior fontanel","minor craniofacial anomalies","genital abnormalities in males","developmental delay","multiple exostoses","strabismus","601224"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","chromosome":"11","grch37_coordinates":null,"grch38_coordinates":[43873250,46130899],"tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA_37418-Loss","verbose_name":"Smith-Magenis syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Smith-Magenis syndrome, MIM#\t182290","intellectual disability","dysmorphic features","behavioural issues"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"17","grch37_coordinates":null,"grch38_coordinates":[16853797,20316338],"tags":["SV/CNV"],"panel":{"id":3443,"hash_id":null,"name":"Common deletion and duplication syndromes","disease_group":"","disease_sub_group":"","description":"Under construction","status":"public","version":"0.156","version_created":"2026-02-06T14:14:01.107904+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":0,"number_of_regions":71},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37436-Gain","verbose_name":"Charcot-Marie-Tooth disease type 1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":null,"triplosensitivity_score":"3","required_overlap_percentage":80,"type_of_variants":"cnv_gain","publications":["PMID: 32648354"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Charcot-Marie-Tooth disease type 1A, MIM#118220"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","chromosome":"17","grch37_coordinates":null,"grch38_coordinates":[14194598,15567587],"tags":[],"panel":{"id":3443,"hash_id":null,"name":"Common deletion and duplication syndromes","disease_group":"","disease_sub_group":"","description":"Under construction","status":"public","version":"0.156","version_created":"2026-02-06T14:14:01.107904+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":0,"number_of_regions":71},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-46295-Loss","verbose_name":"Chromosome 15q13.3 microdeletion syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["PMID: 19289393"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Chromosome 15q13.3 microdeletion syndrome MIM#612001","intellectual disability","seizures"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","chromosome":"15","grch37_coordinates":null,"grch38_coordinates":[31727418,32153205],"tags":[],"panel":{"id":3443,"hash_id":null,"name":"Common deletion and duplication syndromes","disease_group":"","disease_sub_group":"","description":"Under construction","status":"public","version":"0.156","version_created":"2026-02-06T14:14:01.107904+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":0,"number_of_regions":71},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"IHH upstream regulatory region","verbose_name":"IHH upstream regulatory region","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":null,"triplosensitivity_score":null,"required_overlap_percentage":70,"type_of_variants":"cnv_gain","publications":["PMID: 21167467"],"evidence":["Literature","Literature"],"phenotypes":["Craniosynostosis, Philadelphia type, with syndactyly, MIM#185900","Syndactyly, type 1, MIM#185900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"2","grch37_coordinates":null,"grch38_coordinates":[219109600,219115111],"tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.85","version_created":"2026-03-26T15:53:21.747538+11:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":4},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37440-Loss","verbose_name":"2p21 deletion syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"30","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["PMID: 18234729","23794250"],"evidence":["Expert list","Expert Review Green","Expert list"],"phenotypes":["2p21 deletion syndrome","Hypotonia-cystinuria syndrome, MIM#\t606407"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","chromosome":"2","grch37_coordinates":null,"grch38_coordinates":[44183133,44362502],"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":[]}}]}