{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=295","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=293","results":[{"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":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301418","31617258","24932600"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Robinow syndrome, autosomal recessive - MIM#268310"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. 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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":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Donnai-Barrow syndrome, MIM#222448"],"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":["MGC13040"],"biotype":"protein_coding","hgnc_id":"HGNC:28188","gene_name":"chromosome 11 open reading frame 70","omim_gene":null,"alias_name":null,"gene_symbol":"C11orf70","hgnc_symbol":"C11orf70","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:101918174-101955291","ensembl_id":"ENSG00000137691"}},"GRch38":{"90":{"location":"11:102047443-102084560","ensembl_id":"ENSG00000137691"}}},"hgnc_date_symbol_changed":"2006-03-31"},"entity_type":"gene","entity_name":"C11orf70","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29727693","29727692"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Ciliary dyskinesia, primary, 38\t618063"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":82,"hash_id":null,"name":"Ciliary Dyskinesia","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KRTE"],"biotype":"protein_coding","hgnc_id":"HGNC:6439","gene_name":"keratin 2","omim_gene":["600194"],"alias_name":["epidermal ichthyosis bullosa of Siemens"],"gene_symbol":"KRT2","hgnc_symbol":"KRT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53038342-53045948","ensembl_id":"ENSG00000172867"}},"GRch38":{"90":{"location":"12:52644558-52652164","ensembl_id":"ENSG00000172867"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT2","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["26581228","22612346"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Superficial epidermolytic ichthyosis (SEI) (MIM#146800)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":101,"hash_id":null,"name":"Epidermolysis bullosa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"stats":{"number_of_genes":46,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:449","gene_name":"ALX homeobox 3","omim_gene":["606014"],"alias_name":null,"gene_symbol":"ALX3","hgnc_symbol":"ALX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:110602616-110613322","ensembl_id":"ENSG00000156150"}},"GRch38":{"90":{"location":"1:110059994-110070700","ensembl_id":"ENSG00000156150"}}},"hgnc_date_symbol_changed":"1998-04-08"},"entity_type":"gene","entity_name":"ALX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19409524"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Frontonasal dysplasia 1, MIM# 136760"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":104,"hash_id":null,"name":"Frontonasal dysplasia","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 frontonasal dysplasia, a craniofacial disorder defined as 2 or more of the following:\r\n(1) true ocular hypertelorism;\r\n(2) broadening of the nasal root;\r\n(3) median facial cleft affecting the nose and/or upper lip and palate;\r\n(4) unilateral or bilateral clefting of the alae nasi;\r\n(5) lack of formation of the nasal tip;\r\n(6) anterior cranium bifidum occultum; and \r\n(7) a V-shaped or widow's peak frontal hairline.","status":"public","version":"1.3","version_created":"2025-10-26T17:18:38.360530+11:00","relevant_disorders":["Midline defect of the nose","HP:0004122; Midline facial cleft","HP:0100629; Cranium bifidum occultum","HP:0004423"],"stats":{"number_of_genes":9,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EEF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:3214","gene_name":"eukaryotic translation elongation factor 2","omim_gene":["130610"],"alias_name":["polypeptidyl-tRNA translocase"],"gene_symbol":"EEF2","hgnc_symbol":"EEF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3976054-3985467","ensembl_id":"ENSG00000167658"}},"GRch38":{"90":{"location":"19:3976056-3985469","ensembl_id":"ENSG00000167658"}}},"hgnc_date_symbol_changed":"1991-03-11"},"entity_type":"gene","entity_name":"EEF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33355653"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder","macrocephaly","hydrocephalus"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["OCI-5","SGBS","SGBS1","SGB","DGSX"],"biotype":"protein_coding","hgnc_id":"HGNC:4451","gene_name":"glypican 3","omim_gene":["300037"],"alias_name":["glypican proteoglycan 3"],"gene_symbol":"GPC3","hgnc_symbol":"GPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:132669773-133119922","ensembl_id":"ENSG00000147257"}},"GRch38":{"90":{"location":"X:133535745-133985895","ensembl_id":"ENSG00000147257"}}},"hgnc_date_symbol_changed":"1996-08-08"},"entity_type":"gene","entity_name":"GPC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301398"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Simpson-Golabi-Behmel syndrome, type 1\tMIM#312870"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":118,"hash_id":null,"name":"Hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing","status":"public","version":"1.51","version_created":"2026-03-09T16:58:00.909830+11:00","relevant_disorders":["Hyperinsulinaemia","HP:0000842;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":35,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["2310047H23Rik","FLJ22625"],"biotype":"protein_coding","hgnc_id":"HGNC:20652","gene_name":"thioredoxin domain containing 15","omim_gene":null,"alias_name":null,"gene_symbol":"TXNDC15","hgnc_symbol":"TXNDC15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:134209493-134237215","ensembl_id":"ENSG00000113621"}},"GRch38":{"90":{"location":"5:134873803-134901525","ensembl_id":"ENSG00000113621"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"TXNDC15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30851085","27894351"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Meckel syndrome 14, MIM# 619879"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"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":["U7.1"],"biotype":"snRNA","hgnc_id":"HGNC:34033","gene_name":"RNA, U7 small nuclear 1","omim_gene":null,"alias_name":["RNA, small nuclear U7.1"],"gene_symbol":"RNU7-1","hgnc_symbol":"RNU7-1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7052979-7053041","ensembl_id":"ENSG00000238923"}},"GRch38":{"90":{"location":"12:6943816-6943878","ensembl_id":"ENSG00000238923"}}},"hgnc_date_symbol_changed":"2010-09-14"},"entity_type":"gene","entity_name":"RNU7-1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33230297"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Aicardi-Goutieres syndrome 9, MIM# 619487"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["non-coding gene"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EPC-1","PIG35"],"biotype":"protein_coding","hgnc_id":"HGNC:8824","gene_name":"serpin family F member 1","omim_gene":["172860"],"alias_name":["pigment epithelium-derived factor","proliferation-inducing protein 35"],"gene_symbol":"SERPINF1","hgnc_symbol":"SERPINF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1665253-1680868","ensembl_id":"ENSG00000132386"}},"GRch38":{"90":{"location":"17:1761959-1777574","ensembl_id":"ENSG00000132386"}}},"hgnc_date_symbol_changed":"1993-05-18"},"entity_type":"gene","entity_name":"SERPINF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21353196","23054245"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta, type VI, MIM# 613982"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15696165","20512159","23420520","23420520","30730599"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Warburg micro syndrome 1, MIM# 600118","Martsolf syndrome 2, MIM#\t619420"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp686D143"],"biotype":"protein_coding","hgnc_id":"HGNC:20340","gene_name":"prickle planar cell polarity protein 2","omim_gene":["608501"],"alias_name":null,"gene_symbol":"PRICKLE2","hgnc_symbol":"PRICKLE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:64079543-64431152","ensembl_id":"ENSG00000163637"}},"GRch38":{"90":{"location":"3:64092242-64445476","ensembl_id":"ENSG00000163637"}}},"hgnc_date_symbol_changed":"2003-02-10"},"entity_type":"gene","entity_name":"PRICKLE2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["34092786","21276947","26942291","26942292"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, PRICKLE2-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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:250","gene_name":"alcohol dehydrogenase 1B (class I), beta polypeptide","omim_gene":["103720"],"alias_name":null,"gene_symbol":"ADH1B","hgnc_symbol":"ADH1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:100226121-100242558","ensembl_id":"ENSG00000196616"}},"GRch38":{"90":{"location":"4:99304964-99352760","ensembl_id":"ENSG00000196616"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ADH1B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780","{Alcohol dependence, protection against} MIM#103780"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6773","gene_name":"SMAD family member 7","omim_gene":["602932"],"alias_name":null,"gene_symbol":"SMAD7","hgnc_symbol":"SMAD7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:46446223-46477081","ensembl_id":"ENSG00000101665"}},"GRch38":{"90":{"location":"18:48919853-48950711","ensembl_id":"ENSG00000101665"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Colorectal cancer, susceptibility to, 3} 612229"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HATH1","MATH-1","Math1","bHLHa14"],"biotype":"protein_coding","hgnc_id":"HGNC:797","gene_name":"atonal bHLH transcription factor 1","omim_gene":["601461"],"alias_name":null,"gene_symbol":"ATOH1","hgnc_symbol":"ATOH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:94750042-94751221","ensembl_id":"ENSG00000172238"}},"GRch38":{"90":{"location":"4:93828753-93830964","ensembl_id":"ENSG00000172238"}}},"hgnc_date_symbol_changed":"1997-02-27"},"entity_type":"gene","entity_name":"ATOH1","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["35518571"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11811","CGIN1"],"biotype":"protein_coding","hgnc_id":"HGNC:20165","gene_name":"NYN domain and retroviral integrase 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VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"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":["XPAC","XP1"],"biotype":"protein_coding","hgnc_id":"HGNC:12814","gene_name":"XPA, DNA damage recognition and repair factor","omim_gene":["611153"],"alias_name":null,"gene_symbol":"XPA","hgnc_symbol":"XPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:100437191-100459639","ensembl_id":"ENSG00000136936"}},"GRch38":{"90":{"location":"9:97674909-97697357","ensembl_id":"ENSG00000136936"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"XPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2234061","1372102"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Xeroderma pigmentosum, group A , MIM#278700","MONDO:0010210"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":156,"hash_id":null,"name":"Photosensitivity Syndromes","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 photosensitivity, in particular DNA repair disorders and porphyrias.","status":"public","version":"1.11","version_created":"2025-12-08T10:32:19.181318+11:00","relevant_disorders":["Cutaneous photosensitivity","HP:0000992"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10615118","31288759"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group F 603467","MONDO:0011325"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AS","ANCR","E6-AP","FLJ26981"],"biotype":"protein_coding","hgnc_id":"HGNC:12496","gene_name":"ubiquitin protein ligase E3A","omim_gene":["601623"],"alias_name":["Angelman syndrome"],"gene_symbol":"UBE3A","hgnc_symbol":"UBE3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:25582381-25684128","ensembl_id":"ENSG00000114062"}},"GRch38":{"90":{"location":"15:25333728-25439056","ensembl_id":"ENSG00000114062"}}},"hgnc_date_symbol_changed":"1993-10-21"},"entity_type":"gene","entity_name":"UBE3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30842224"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Angelman syndrome, MIM#105830"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8959","gene_name":"phosphatidylinositol glycan anchor biosynthesis class B","omim_gene":["604122"],"alias_name":["GPI mannosyltransferase 3","dol-P-Man dependent GPI mannosyltransferase"],"gene_symbol":"PIGB","hgnc_symbol":"PIGB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:55611158-55647846","ensembl_id":"ENSG00000069943"}},"GRch38":{"90":{"location":"15:55318960-55355648","ensembl_id":"ENSG00000069943"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"PIGB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31256876"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 80, MIM# 618580"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4878","gene_name":"hexosaminidase subunit alpha","omim_gene":["606869"],"alias_name":["Tay Sachs disease","GM2 gangliosidosis","beta-hexosaminidase subunit alpha"],"gene_symbol":"HEXA","hgnc_symbol":"HEXA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72635775-72668817","ensembl_id":"ENSG00000213614"}},"GRch38":{"90":{"location":"15:72340919-72376476","ensembl_id":"ENSG00000213614"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31388111"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["GM2-gangliosidosis, several forms 272800","Tay-Sachs disease 272800"],"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":["ATP8","A6L"],"biotype":"protein_coding","hgnc_id":"HGNC:7415","gene_name":"mitochondrially encoded ATP synthase 8","omim_gene":["516070"],"alias_name":null,"gene_symbol":"MT-ATP8","hgnc_symbol":"MT-ATP8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:8366-8572","ensembl_id":"ENSG00000228253"}},"GRch38":{"90":{"location":"MT:8366-8572","ensembl_id":"ENSG00000228253"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ATP8","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["24153443","20207608","32858252","33340416","32858252","19759059","22919063"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Mitochondrial disease MONDO:0044970, MT-ATP8 related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC39558"],"biotype":"protein_coding","hgnc_id":"HGNC:28596","gene_name":"beta-1,3-N-acetylgalactosaminyltransferase 2","omim_gene":["610194"],"alias_name":null,"gene_symbol":"B3GALNT2","hgnc_symbol":"B3GALNT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235613238-235667781","ensembl_id":"ENSG00000162885"}},"GRch38":{"90":{"location":"1:235449923-235504481","ensembl_id":"ENSG00000162885"}}},"hgnc_date_symbol_changed":"2005-02-10"},"entity_type":"gene","entity_name":"B3GALNT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22147658","25572244","14740321"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Usher syndrome, type 2C, MIM# 605472"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:144","gene_name":"actin gamma 1","omim_gene":["102560"],"alias_name":null,"gene_symbol":"ACTG1","hgnc_symbol":"ACTG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79476997-79490873","ensembl_id":"ENSG00000184009"}},"GRch38":{"90":{"location":"17:81509971-81523847","ensembl_id":"ENSG00000184009"}}},"hgnc_date_symbol_changed":"1988-06-27"},"entity_type":"gene","entity_name":"ACTG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["13680526","14684684","16773128","19477959","19497859"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 20/26, MIM# 604717"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF53","BRCC1","PPP1R53","FANCS"],"biotype":"protein_coding","hgnc_id":"HGNC:1100","gene_name":"BRCA1, DNA repair associated","omim_gene":["113705"],"alias_name":["BRCA1/BRCA2-containing complex, subunit 1","protein phosphatase 1, regulatory subunit 53","Fanconi anemia, complementation group S"],"gene_symbol":"BRCA1","hgnc_symbol":"BRCA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:41196312-41277500","ensembl_id":"ENSG00000012048"}},"GRch38":{"90":{"location":"17:43044295-43170245","ensembl_id":"ENSG00000012048"}}},"hgnc_date_symbol_changed":"1991-02-20"},"entity_type":"gene","entity_name":"BRCA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Breast-ovarian cancer, familial, 1, MIM# 604370","Fanconi anaemia, complementation group S, MIM# 617883"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1784","KIAA1987","FANCP"],"biotype":"protein_coding","hgnc_id":"HGNC:23845","gene_name":"SLX4 structure-specific endonuclease subunit","omim_gene":["613278"],"alias_name":["Fanconi anemia, complementation group P"],"gene_symbol":"SLX4","hgnc_symbol":"SLX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3631182-3661599","ensembl_id":"ENSG00000188827"}},"GRch38":{"90":{"location":"16:3581181-3611598","ensembl_id":"ENSG00000188827"}}},"hgnc_date_symbol_changed":"2010-09-13"},"entity_type":"gene","entity_name":"SLX4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Fanconi anaemia, complementation group P, MIM# 613951"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SLY","753P9","SH3D6C","HACS2"],"biotype":"protein_coding","hgnc_id":"HGNC:15975","gene_name":"SAM and SH3 domain containing 3","omim_gene":["300441"],"alias_name":null,"gene_symbol":"SASH3","hgnc_symbol":"SASH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:128913955-128929177","ensembl_id":"ENSG00000122122"}},"GRch38":{"90":{"location":"X:129779979-129795201","ensembl_id":"ENSG00000122122"}}},"hgnc_date_symbol_changed":"2008-02-18"},"entity_type":"gene","entity_name":"SASH3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33876203"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 102, MIM# 301082"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\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":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:243","gene_name":"adducin 1","omim_gene":["102680"],"alias_name":["alpha-adducin"],"gene_symbol":"ADD1","hgnc_symbol":"ADD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:2845584-2931803","ensembl_id":"ENSG00000087274"}},"GRch38":{"90":{"location":"4:2843857-2930076","ensembl_id":"ENSG00000087274"}}},"hgnc_date_symbol_changed":"1992-10-19"},"entity_type":"gene","entity_name":"ADD1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34906466"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, ADD1-related","Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly","no OMIM #"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":[]},{"gene_data":{"alias":["BBS8","RP51"],"biotype":"protein_coding","hgnc_id":"HGNC:20087","gene_name":"tetratricopeptide repeat domain 8","omim_gene":["608132"],"alias_name":null,"gene_symbol":"TTC8","hgnc_symbol":"TTC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:89290497-89344335","ensembl_id":"ENSG00000165533"}},"GRch38":{"90":{"location":"14:88824153-88881078","ensembl_id":"ENSG00000165533"}}},"hgnc_date_symbol_changed":"2002-12-17"},"entity_type":"gene","entity_name":"TTC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14520415","19797195"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Bardet-Biedl syndrome 8, MIM# 615985"],"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":["KIAA0321"],"biotype":"protein_coding","hgnc_id":"HGNC:20761","gene_name":"zinc finger FYVE-type containing 26","omim_gene":["612012"],"alias_name":["spastizin","FYVE-CENT"],"gene_symbol":"ZFYVE26","hgnc_symbol":"ZFYVE26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:68194091-68283307","ensembl_id":"ENSG00000072121"}},"GRch38":{"90":{"location":"14:67727374-67816590","ensembl_id":"ENSG00000072121"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"ZFYVE26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301682"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Spastic paraplegia 15, autosomal recessive, MIM#\t270700","hereditary spastic paraplegia 15, MONDO:0010044"],"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":["ARMS"],"biotype":"protein_coding","hgnc_id":"HGNC:29508","gene_name":"kinase D interacting substrate 220","omim_gene":["615759"],"alias_name":["ankyrin repeat-rich membrane-spanning protein"],"gene_symbol":"KIDINS220","hgnc_symbol":"KIDINS220","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:8865408-8977760","ensembl_id":"ENSG00000134313"}},"GRch38":{"90":{"location":"2:8721081-8837630","ensembl_id":"ENSG00000134313"}}},"hgnc_date_symbol_changed":"2008-11-25"},"entity_type":"gene","entity_name":"KIDINS220","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27005418","29667355"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296","MONDO:0015007"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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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 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The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COX2","CO2"],"biotype":"protein_coding","hgnc_id":"HGNC:7421","gene_name":"mitochondrially encoded cytochrome c oxidase II","omim_gene":["516040"],"alias_name":null,"gene_symbol":"MT-CO2","hgnc_symbol":"MT-CO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:7586-8269","ensembl_id":"ENSG00000198712"}},"GRch38":{"90":{"location":"MT:7586-8269","ensembl_id":"ENSG00000198712"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-CO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34325999","30315213","28521807","10205264","10486321","11558799","18245391","23616164","31167410","23965802","30030519"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ38602"],"biotype":"protein_coding","hgnc_id":"HGNC:20093","gene_name":"adenylosuccinate synthase like 1","omim_gene":["612498"],"alias_name":null,"gene_symbol":"ADSSL1","hgnc_symbol":"ADSSL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:105190523-105213662","ensembl_id":"ENSG00000185100"}},"GRch38":{"90":{"location":"14:104724186-104747325","ensembl_id":"ENSG00000185100"}}},"hgnc_date_symbol_changed":"2002-12-17"},"entity_type":"gene","entity_name":"ADSSL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26506222","28268051","34635388","32646962"],"evidence":["Expert Review Green","Literature","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6485","gene_name":"laminin subunit alpha 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Services.\r\n\r\nThis panel has been compared against the Genomics England 'Congenital myasthenic syndrome' panel V2.2, with all discrepancies resolved and reciprocal provided to Genomics England.","status":"public","version":"1.20","version_created":"2026-01-02T17:01:50.322172+11:00","relevant_disorders":["Fatiguable weakness HP:0003473;Hypotonia HP:0001252"],"stats":{"number_of_genes":37,"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":["MAG","EM9","MGC102762","MGC126218","MGC126219","TFIIH"],"biotype":"protein_coding","hgnc_id":"HGNC:3434","gene_name":"ERCC excision repair 2, TFIIH core complex helicase subunit","omim_gene":["126340"],"alias_name":["excision repair cross-complementing rodent repair deficiency, complementation group 2 protein","TFIIH basal transcription factor complex helicase XPB subunit"],"gene_symbol":"ERCC2","hgnc_symbol":"ERCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45853095-45874176","ensembl_id":"ENSG00000104884"}},"GRch38":{"90":{"location":"19:45349837-45370918","ensembl_id":"ENSG00000104884"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9195225","9758621"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Trichothiodystrophy 1, photosensitive, MIM# 601675"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3089,"hash_id":null,"name":"Ectodermal Dysplasia","disease_group":"Dermatological 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VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:13997","gene_name":"PR/SET domain 12","omim_gene":["616458"],"alias_name":["PR-domain containing protein 12","PR-domain zinc finger protein 12"],"gene_symbol":"PRDM12","hgnc_symbol":"PRDM12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:133539981-133558368","ensembl_id":"ENSG00000130711"}},"GRch38":{"90":{"location":"9:130664594-130682981","ensembl_id":"ENSG00000130711"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"PRDM12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26975306","25891934","26005867","33789102","33010785","32828702"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["insensitivity to pain","Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488","MONDO:0014662"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3126,"hash_id":null,"name":"Pain syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Mendelian disorders of pain perception, including insensitivity to pain or increased pain perception, with thanks to Genomics England PanelApp.","status":"public","version":"0.38","version_created":"2026-02-22T15:47:27.675595+11:00","relevant_disorders":["Pain","HP:0012531"],"stats":{"number_of_genes":31,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NBC1","HNBC1","NBC2","pNBC","hhNMC"],"biotype":"protein_coding","hgnc_id":"HGNC:11030","gene_name":"solute carrier family 4 member 4","omim_gene":["603345"],"alias_name":null,"gene_symbol":"SLC4A4","hgnc_symbol":"SLC4A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:72053003-72437804","ensembl_id":"ENSG00000080493"}},"GRch38":{"90":{"location":"4:71186757-71572087","ensembl_id":"ENSG00000080493"}}},"hgnc_date_symbol_changed":"1998-12-11"},"entity_type":"gene","entity_name":"SLC4A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier 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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Retinitis pigmentosa 59, 613861 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACTHR"],"biotype":"protein_coding","hgnc_id":"HGNC:6930","gene_name":"melanocortin 2 receptor","omim_gene":["607397"],"alias_name":["adrenocorticotropic hormone receptor"],"gene_symbol":"MC2R","hgnc_symbol":"MC2R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:13882043-13915706","ensembl_id":"ENSG00000185231"}},"GRch38":{"90":{"location":"18:13882044-13915707","ensembl_id":"ENSG00000185231"}}},"hgnc_date_symbol_changed":"1993-07-20"},"entity_type":"gene","entity_name":"MC2R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ31937","EPM1B","RILP"],"biotype":"protein_coding","hgnc_id":"HGNC:17019","gene_name":"prickle planar cell polarity protein 1","omim_gene":["608500"],"alias_name":["REST/NRSF interacting LIM domain protein"],"gene_symbol":"PRICKLE1","hgnc_symbol":"PRICKLE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:42852140-42984157","ensembl_id":"ENSG00000139174"}},"GRch38":{"90":{"location":"12:42456757-42590355","ensembl_id":"ENSG00000139174"}}},"hgnc_date_symbol_changed":"2003-02-10"},"entity_type":"gene","entity_name":"PRICKLE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epilepsy, progressive myoclonic 1B, 612437 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8654","gene_name":"propionyl-CoA carboxylase beta subunit","omim_gene":["232050"],"alias_name":null,"gene_symbol":"PCCB","hgnc_symbol":"PCCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:135969148-136056738","ensembl_id":"ENSG00000114054"}},"GRch38":{"90":{"location":"3:136250306-136337896","ensembl_id":"ENSG00000114054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PCCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30356112","7769171","6497733","30037889","18986243"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Propionicacidemia, MIM#\t606054"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TAOS2","FLJ10261","DOG1"],"biotype":"protein_coding","hgnc_id":"HGNC:21625","gene_name":"anoctamin 1","omim_gene":["610108"],"alias_name":null,"gene_symbol":"ANO1","hgnc_symbol":"ANO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:69924408-70035634","ensembl_id":"ENSG00000131620"}},"GRch38":{"90":{"location":"11:70078302-70189528","ensembl_id":"ENSG00000131620"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37253099"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Moyamoya disease 7, MIM# 620687"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3144,"hash_id":null,"name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.","status":"public","version":"1.12","version_created":"2026-01-22T10:52:30.127872+11:00","relevant_disorders":["Abnormal cerebral vascular morphology HP:0100659"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RIM","KIAA0340","RIM1"],"biotype":"protein_coding","hgnc_id":"HGNC:17282","gene_name":"regulating synaptic membrane exocytosis 1","omim_gene":["606629"],"alias_name":["Rab3-interacting molecule"],"gene_symbol":"RIMS1","hgnc_symbol":"RIMS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:72596406-73112845","ensembl_id":"ENSG00000079841"}},"GRch38":{"90":{"location":"6:71886703-72403143","ensembl_id":"ENSG00000079841"}}},"hgnc_date_symbol_changed":"2002-06-14"},"entity_type":"gene","entity_name":"RIMS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30679166"],"evidence":["Expert Review Red","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Cone-rod dystrophy 7, 603649"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3147,"hash_id":null,"name":"Cone-rod Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.68","version_created":"2026-04-11T11:12:33.696021+10:00","relevant_disorders":["Retinal dystrophy","HP:0000556"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p53","LFS1"],"biotype":"protein_coding","hgnc_id":"HGNC:11998","gene_name":"tumor protein p53","omim_gene":["191170"],"alias_name":["Li-Fraumeni syndrome"],"gene_symbol":"TP53","hgnc_symbol":"TP53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7565097-7590856","ensembl_id":"ENSG00000141510"}},"GRch38":{"90":{"location":"17:7661779-7687550","ensembl_id":"ENSG00000141510"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TP53","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Li-Fraumeni syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARVC2","VTSIP"],"biotype":"protein_coding","hgnc_id":"HGNC:10484","gene_name":"ryanodine receptor 2","omim_gene":["180902"],"alias_name":null,"gene_symbol":"RYR2","hgnc_symbol":"RYR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:237205505-237997288","ensembl_id":"ENSG00000198626"}},"GRch38":{"90":{"location":"1:237042205-237833988","ensembl_id":"ENSG00000198626"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"RYR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ventricular tachycardia, catecholaminergic polymorphic","Arrhythmogenic right ventricular dysplasia 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:467","gene_name":"Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1","omim_gene":["300195"],"alias_name":null,"gene_symbol":"AMMECR1","hgnc_symbol":"AMMECR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:109437414-109683461","ensembl_id":"ENSG00000101935"}},"GRch38":{"90":{"location":"X:110194186-110440233","ensembl_id":"ENSG00000101935"}}},"hgnc_date_symbol_changed":"1998-06-22"},"entity_type":"gene","entity_name":"AMMECR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27811305","28089922","29193635"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:28984","gene_name":"WASH complex subunit 5","omim_gene":["610657"],"alias_name":["strumpellin"],"gene_symbol":"WASHC5","hgnc_symbol":"WASHC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:126036502-126104082","ensembl_id":"ENSG00000164961"}},"GRch38":{"90":{"location":"8:125024260-125091840","ensembl_id":"ENSG00000164961"}}},"hgnc_date_symbol_changed":"2016-10-14"},"entity_type":"gene","entity_name":"WASHC5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24065355"],"evidence":["Expert Review Red"],"phenotypes":["RTSC1","RITSCHER-SCHINZEL SYNDROME 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IGFBP8","CCN2"],"biotype":"protein_coding","hgnc_id":"HGNC:2500","gene_name":"connective tissue growth factor","omim_gene":["121009"],"alias_name":null,"gene_symbol":"CTGF","hgnc_symbol":"CTGF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:132269316-132272513","ensembl_id":"ENSG00000118523"}},"GRch38":{"90":{"location":"6:131948176-131951373","ensembl_id":"ENSG00000118523"}}},"hgnc_date_symbol_changed":"1992-12-01"},"entity_type":"gene","entity_name":"CTGF","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39506047","39414788","12736220"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Kyphomelic dysplasia, OMIM:211350","kyphomelic dysplasia, MONDO:0008881","spondyloepimetaphyseal dysplasia, MONDO:0100510"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0062","NET34","ZIP14"],"biotype":"protein_coding","hgnc_id":"HGNC:20858","gene_name":"solute carrier family 39 member 14","omim_gene":["608736"],"alias_name":null,"gene_symbol":"SLC39A14","hgnc_symbol":"SLC39A14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:22224762-22291642","ensembl_id":"ENSG00000104635"}},"GRch38":{"90":{"location":"8:22367249-22434129","ensembl_id":"ENSG00000104635"}}},"hgnc_date_symbol_changed":"2003-10-23"},"entity_type":"gene","entity_name":"SLC39A14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27231142","29685658"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hypermanganesemia with dystonia 2, MIM#\t617013"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ATPIC","PFIC"],"biotype":"protein_coding","hgnc_id":"HGNC:3706","gene_name":"ATPase phospholipid transporting 8B1","omim_gene":["602397"],"alias_name":null,"gene_symbol":"ATP8B1","hgnc_symbol":"ATP8B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:55313658-55470333","ensembl_id":"ENSG00000081923"}},"GRch38":{"90":{"location":"18:57646426-57803101","ensembl_id":"ENSG00000081923"}}},"hgnc_date_symbol_changed":"1996-12-17"},"entity_type":"gene","entity_name":"ATP8B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9500542"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Cholestasis, progressive familial intrahepatic 1 MIM#211600","disorder of bile acid metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HCP1","MGC9564","PCFT"],"biotype":"protein_coding","hgnc_id":"HGNC:30521","gene_name":"solute carrier family 46 member 1","omim_gene":["611672"],"alias_name":["heme carrier protein 1","proton-coupled folate transporter"],"gene_symbol":"SLC46A1","hgnc_symbol":"SLC46A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:26721661-26734215","ensembl_id":"ENSG00000076351"}},"GRch38":{"90":{"location":"17:28394756-28407197","ensembl_id":"ENSG00000076351"}}},"hgnc_date_symbol_changed":"2007-03-29"},"entity_type":"gene","entity_name":"SLC46A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17446347","17129779","21333572"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Folate malabsorption, hereditary, MIM#\t229050"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7863","gene_name":"nicotinamide nucleotide transhydrogenase","omim_gene":["607878"],"alias_name":null,"gene_symbol":"NNT","hgnc_symbol":"NNT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:43602794-43707507","ensembl_id":"ENSG00000112992"}},"GRch38":{"90":{"location":"5:43602692-43707405","ensembl_id":"ENSG00000112992"}}},"hgnc_date_symbol_changed":"1999-11-16"},"entity_type":"gene","entity_name":"NNT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34545694"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Congenital hypothyroidism, MONDO:0018612"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CEK2","JTK4","CD333"],"biotype":"protein_coding","hgnc_id":"HGNC:3690","gene_name":"fibroblast growth factor receptor 3","omim_gene":["134934"],"alias_name":null,"gene_symbol":"FGFR3","hgnc_symbol":"FGFR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1795034-1810599","ensembl_id":"ENSG00000068078"}},"GRch38":{"90":{"location":"4:1793307-1808872","ensembl_id":"ENSG00000068078"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"FGFR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22499344","16841094"],"evidence":["Expert Review Green","Genomics England PanelApp","NHS GMS"],"phenotypes":["Epidermal naevi","Syringocystadenoma papilliferum"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["somatic"],"panel":{"id":3472,"hash_id":null,"name":"Mosaic skin disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.15","version_created":"2025-11-28T10:17:48.863556+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Tasmanian Clinical Genetics Service","slug":"tasmanian-clinical-genetics-service","description":"Tasmanian Clinical Genetics Service"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC26963","SMS2"],"biotype":"protein_coding","hgnc_id":"HGNC:28395","gene_name":"sphingomyelin synthase 2","omim_gene":["611574"],"alias_name":null,"gene_symbol":"SGMS2","hgnc_symbol":"SGMS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:108745719-108836203","ensembl_id":"ENSG00000164023"}},"GRch38":{"90":{"location":"4:107824563-107915047","ensembl_id":"ENSG00000164023"}}},"hgnc_date_symbol_changed":"2007-03-15"},"entity_type":"gene","entity_name":"SGMS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34236445","32028018","30779713","34761145","34504906"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia - MIM#126550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10852","gene_name":"serine hydroxymethyltransferase 2","omim_gene":["138450"],"alias_name":null,"gene_symbol":"SHMT2","hgnc_symbol":"SHMT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57623110-57628718","ensembl_id":"ENSG00000182199"}},"GRch38":{"90":{"location":"12:57229327-57234935","ensembl_id":"ENSG00000182199"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SHMT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33015733"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Polymicrogyria","corpus callosum anomalies","Microcephaly","Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities - #619121"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MTPOLB","HP55"],"biotype":"protein_coding","hgnc_id":"HGNC:9180","gene_name":"DNA polymerase gamma 2, accessory subunit","omim_gene":["604983"],"alias_name":null,"gene_symbol":"POLG2","hgnc_symbol":"POLG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:62473902-62493154","ensembl_id":"ENSG00000256525"}},"GRch38":{"90":{"location":"17:64477785-64497036","ensembl_id":"ENSG00000256525"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"POLG2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16685652","21555342","27592148","31778857"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415","Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CKI"],"biotype":"protein_coding","hgnc_id":"HGNC:1937","gene_name":"choline kinase alpha","omim_gene":["118491"],"alias_name":null,"gene_symbol":"CHKA","hgnc_symbol":"CHKA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67820326-67888911","ensembl_id":"ENSG00000110721"}},"GRch38":{"90":{"location":"11:68052859-68121444","ensembl_id":"ENSG00000110721"}}},"hgnc_date_symbol_changed":"2004-04-21"},"entity_type":"gene","entity_name":"CHKA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["35202461"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22501","BLOC2S3"],"biotype":"protein_coding","hgnc_id":"HGNC:18817","gene_name":"HPS6, biogenesis of lysosomal organelles complex 2 subunit 3","omim_gene":["607522"],"alias_name":null,"gene_symbol":"HPS6","hgnc_symbol":"HPS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:103825147-103827792","ensembl_id":"ENSG00000166189"}},"GRch38":{"90":{"location":"10:102065390-102068038","ensembl_id":"ENSG00000166189"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"HPS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12548288","17041891"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hermansky-Pudlak syndrome 6, MIM# 614075"],"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. 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3544","gene_name":"coagulation factor VII","omim_gene":["613878"],"alias_name":["eptacog alfa","FVII coagulation protein","factor VII"],"gene_symbol":"F7","hgnc_symbol":"F7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:113760105-113774995","ensembl_id":"ENSG00000057593"}},"GRch38":{"90":{"location":"13:113105788-113120681","ensembl_id":"ENSG00000057593"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"F7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Factor VII deficiency MIM# 227500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HANK","ANK","CPPDD"],"biotype":"protein_coding","hgnc_id":"HGNC:15492","gene_name":"ANKH inorganic pyrophosphate transport regulator","omim_gene":["605145"],"alias_name":null,"gene_symbol":"ANKH","hgnc_symbol":"ANKH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:14704910-14871887","ensembl_id":"ENSG00000154122"}},"GRch38":{"90":{"location":"5:14704804-14871778","ensembl_id":"ENSG00000154122"}}},"hgnc_date_symbol_changed":"2001-04-05"},"entity_type":"gene","entity_name":"ANKH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Craniometaphyseal dysplasia MIM#123000"],"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":["VATB","RTA1B","Vma2"],"biotype":"protein_coding","hgnc_id":"HGNC:853","gene_name":"ATPase H+ transporting V1 subunit B1","omim_gene":["192132"],"alias_name":["Renal tubular acidosis with deafness"],"gene_symbol":"ATP6V1B1","hgnc_symbol":"ATP6V1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:71163012-71192536","ensembl_id":"ENSG00000116039"}},"GRch38":{"90":{"location":"2:70935882-70965406","ensembl_id":"ENSG00000116039"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","renal"],"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:9024","gene_name":"plakophilin 2","omim_gene":["602861"],"alias_name":null,"gene_symbol":"PKP2","hgnc_symbol":"PKP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:32943679-33049774","ensembl_id":"ENSG00000057294"}},"GRch38":{"90":{"location":"12:32790745-32896840","ensembl_id":"ENSG00000057294"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"PKP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33831308"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 9, MIM# 609040"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDMP1","BMP14"],"biotype":"protein_coding","hgnc_id":"HGNC:4220","gene_name":"growth differentiation factor 5","omim_gene":["601146"],"alias_name":["cartilage-derived morphogenetic protein-1"],"gene_symbol":"GDF5","hgnc_symbol":"GDF5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:34021145-34042568","ensembl_id":"ENSG00000125965"}},"GRch38":{"90":{"location":"20:35433347-35454746","ensembl_id":"ENSG00000125965"}}},"hgnc_date_symbol_changed":"1997-12-05"},"entity_type":"gene","entity_name":"GDF5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33333243","20683927","33872773"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Acromesomelic dysplasia 2A MIM#200700","Acromesomelic dysplasia 2B MIM#228900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28102862","11536079","33005041","34355424"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4294,"hash_id":null,"name":"Nucleotide metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of purine, pyrimidine, and nucleic acid metabolism.\r\n\r\nIt is a component of the Metabolic Disorders Superpanel.","status":"public","version":"0.8","version_created":"2025-05-08T15:56:43.556103+10:00","relevant_disorders":[],"stats":{"number_of_genes":44,"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"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:18130","gene_name":"synaptonemal complex protein 3","omim_gene":["604759"],"alias_name":null,"gene_symbol":"SYCP3","hgnc_symbol":"SYCP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:102122426-102133250","ensembl_id":"ENSG00000139351"}},"GRch38":{"90":{"location":"12:101728648-101739472","ensembl_id":"ENSG00000139351"}}},"hgnc_date_symbol_changed":"2002-02-05"},"entity_type":"gene","entity_name":"SYCP3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["14643120","19110213"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Spermatogenic failure 4, Recurrent pregnancy loss 4, MIM# 270960"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATX2"],"biotype":"protein_coding","hgnc_id":"HGNC:10555","gene_name":"ataxin 2","omim_gene":["601517"],"alias_name":["trinucleotide repeat containing 13"],"gene_symbol":"ATXN2","hgnc_symbol":"ATXN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111890018-112037480","ensembl_id":"ENSG00000204842"}},"GRch38":{"90":{"location":"12:111452214-111599676","ensembl_id":"ENSG00000204842"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"str","entity_name":"ATXN2_SCA2_CAG","confidence_level":"3","penetrance":null,"publications":["11761482","17923635","8896555","29325606","20301452"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spinocerebellar ataxia 2 MIM#183090"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"12","grch37_coordinates":[112036755,112036823],"grch38_coordinates":[111598951,111599019],"normal_repeats":31,"pathogenic_repeats":35,"tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":{"alias":["AIS","NR3C4","SMAX1","HUMARA"],"biotype":"protein_coding","hgnc_id":"HGNC:644","gene_name":"androgen receptor","omim_gene":["313700"],"alias_name":["testicular feminization","Kennedy disease"],"gene_symbol":"AR","hgnc_symbol":"AR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:66764465-66950461","ensembl_id":"ENSG00000169083"}},"GRch38":{"90":{"location":"X:67544032-67730619","ensembl_id":"ENSG00000169083"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"str","entity_name":"AR_SBMA_CAG","confidence_level":"3","penetrance":null,"publications":["2062380","20301508","29325606"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinal and bulbar muscular atrophy of Kennedy MIM#313200"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","repeated_sequence":"CAG","chromosome":"X","grch37_coordinates":[66765160,66765225],"grch38_coordinates":[67545318,67545383],"normal_repeats":34,"pathogenic_repeats":38,"tags":["adult-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]}},{"gene_data":{"alias":["FLJ39458"],"biotype":"protein_coding","hgnc_id":"HGNC:31750","gene_name":"sterile alpha motif domain containing 12","omim_gene":null,"alias_name":null,"gene_symbol":"SAMD12","hgnc_symbol":"SAMD12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:119201698-119634234","ensembl_id":"ENSG00000177570"}},"GRch38":{"90":{"location":"8:118189459-118621995","ensembl_id":"ENSG00000177570"}}},"hgnc_date_symbol_changed":"2004-07-15"},"entity_type":"str","entity_name":"SAMD12_FAME1_TTTGA","confidence_level":"1","penetrance":null,"publications":["31483537"],"evidence":["Expert Review Red","Literature"],"phenotypes":["familial cortical myoclonic tremor with epilepsy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"TTTGA","chromosome":"8","grch37_coordinates":[119379055,119379157],"grch38_coordinates":[118366816,118366918],"normal_repeats":0,"pathogenic_repeats":100,"tags":[],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]}}]}