{"count":36040,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=120","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=118","results":[{"gene_data":{"alias":["Cka1","Cka2"],"biotype":"protein_coding","hgnc_id":"HGNC:2457","gene_name":"casein kinase 2 alpha 1","omim_gene":["115440"],"alias_name":null,"gene_symbol":"CSNK2A1","hgnc_symbol":"CSNK2A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:459116-524465","ensembl_id":"ENSG00000101266"}},"GRch38":{"90":{"location":"20:473591-543821","ensembl_id":"ENSG00000101266"}}},"hgnc_date_symbol_changed":"1992-02-13"},"entity_type":"gene","entity_name":"CSNK2A1","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["27048600","29240241"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Okur-Chung neurodevelopmental syndrome\t(MIM#617062)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":15,"hash_id":null,"name":"Lissencephaly and Band Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. 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The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["trnV"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7500","gene_name":"mitochondrially encoded tRNA valine","omim_gene":["590105"],"alias_name":null,"gene_symbol":"MT-TV","hgnc_symbol":"MT-TV","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:1602-1670","ensembl_id":"ENSG00000210077"}},"GRch38":{"90":{"location":"MT:1602-1670","ensembl_id":"ENSG00000210077"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TV","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9450773","12056939","19252805","15320572","18314141","24691472","39468830"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TV-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. 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The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AER61","FLJ33770"],"biotype":"protein_coding","hgnc_id":"HGNC:28526","gene_name":"EGF domain specific O-linked N-acetylglucosamine transferase","omim_gene":["614789"],"alias_name":["AER61 glycosyltransferase"],"gene_symbol":"EOGT","hgnc_symbol":"EOGT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:69024365-69063112","ensembl_id":"ENSG00000163378"}},"GRch38":{"90":{"location":"3:68975214-69013961","ensembl_id":"ENSG00000163378"}}},"hgnc_date_symbol_changed":"2012-05-21"},"entity_type":"gene","entity_name":"EOGT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Adams-Oliver syndrome 4 (MIM  #615297)","scalp aplasia cutis congenita","transverse terminal limb defects"],"mode_of_inheritance":"BIALLELIC, autosomal or 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panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cornelia de Lange syndrome 1, MIM# 122470"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT 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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 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Kv10.2","H-EAG2","eag2"],"biotype":"protein_coding","hgnc_id":"HGNC:6254","gene_name":"potassium voltage-gated channel subfamily H member 5","omim_gene":["605716"],"alias_name":null,"gene_symbol":"KCNH5","hgnc_symbol":"KCNH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:63173287-63568755","ensembl_id":"ENSG00000140015"}},"GRch38":{"90":{"location":"14:62699454-63102037","ensembl_id":"ENSG00000140015"}}},"hgnc_date_symbol_changed":"2000-02-02"},"entity_type":"gene","entity_name":"KCNH5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["36307226"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 112, MIM#\t620537"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:941","gene_name":"BCL2 associated athanogene 5","omim_gene":["603885"],"alias_name":null,"gene_symbol":"BAG5","hgnc_symbol":"BAG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:104022881-104029168","ensembl_id":"ENSG00000166170"}},"GRch38":{"90":{"location":"14:103556544-103562831","ensembl_id":"ENSG00000166170"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"BAG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35044787"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cardiomyopathy, dilated, 2F, MIM# 619747"],"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. 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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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BAF155","SRG3","Rsc8","CRACC1"],"biotype":"protein_coding","hgnc_id":"HGNC:11104","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1","omim_gene":["601732"],"alias_name":null,"gene_symbol":"SMARCC1","hgnc_symbol":"SMARCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:47626762-47823596","ensembl_id":"ENSG00000173473"}},"GRch38":{"90":{"location":"3:47585272-47782106","ensembl_id":"ENSG00000173473"}}},"hgnc_date_symbol_changed":"1998-05-15"},"entity_type":"gene","entity_name":"SMARCC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33077954","24170322"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital hydrocephalus"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11741","gene_name":"transcription factor A, mitochondrial","omim_gene":["600438"],"alias_name":null,"gene_symbol":"TFAM","hgnc_symbol":"TFAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:60144782-60158981","ensembl_id":"ENSG00000108064"}},"GRch38":{"90":{"location":"10:58385022-58399221","ensembl_id":"ENSG00000108064"}}},"hgnc_date_symbol_changed":"1991-09-13"},"entity_type":"gene","entity_name":"TFAM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27448789","29021295","9500544","32399598","34647195","34647195"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)\tMIM#617156","Perrault syndrome"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD122"],"biotype":"protein_coding","hgnc_id":"HGNC:6009","gene_name":"interleukin 2 receptor subunit beta","omim_gene":["146710"],"alias_name":null,"gene_symbol":"IL2RB","hgnc_symbol":"IL2RB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37521878-37571094","ensembl_id":"ENSG00000100385"}},"GRch38":{"90":{"location":"22:37125838-37175054","ensembl_id":"ENSG00000100385"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31040184","31040185"],"evidence":["Expert Review","Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495","Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["IGF1A","IGFI","IGF-I"],"biotype":"protein_coding","hgnc_id":"HGNC:5464","gene_name":"insulin like growth factor 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with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC15668","4-HPPD-L"],"biotype":"protein_coding","hgnc_id":"HGNC:28242","gene_name":"4-hydroxyphenylpyruvate dioxygenase like","omim_gene":null,"alias_name":null,"gene_symbol":"HPDL","hgnc_symbol":"HPDL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45792545-45794347","ensembl_id":"ENSG00000186603"}},"GRch38":{"90":{"location":"1:45326905-45328533","ensembl_id":"ENSG00000186603"}}},"hgnc_date_symbol_changed":"2007-03-14"},"entity_type":"gene","entity_name":"HPDL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33188300"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (MIM#619026)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic 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Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AP-4-EPSILON","SPG51"],"biotype":"protein_coding","hgnc_id":"HGNC:573","gene_name":"adaptor related protein complex 4 epsilon 1 subunit","omim_gene":["607244"],"alias_name":null,"gene_symbol":"AP4E1","hgnc_symbol":"AP4E1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51200869-51298097","ensembl_id":"ENSG00000081014"}},"GRch38":{"90":{"location":"15:50908672-51005900","ensembl_id":"ENSG00000081014"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4E1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20972249","21620353","21937992"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia 51, autosomal recessive, MIM# 613744"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC27091"],"biotype":"protein_coding","hgnc_id":"HGNC:23752","gene_name":"ceramide synthase 3","omim_gene":["615276"],"alias_name":null,"gene_symbol":"CERS3","hgnc_symbol":"CERS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:100940600-101085200","ensembl_id":"ENSG00000154227"}},"GRch38":{"90":{"location":"15:100400395-100544995","ensembl_id":"ENSG00000154227"}}},"hgnc_date_symbol_changed":"2011-07-08"},"entity_type":"gene","entity_name":"CERS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23754960","30578701","23754960"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 9 (MIM#615023)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":153,"hash_id":null,"name":"Palmoplantar Keratoderma and Erythrokeratoderma","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.","status":"public","version":"0.144","version_created":"2026-03-08T22:20:02.332483+11:00","relevant_disorders":["Palmoplantar keratoderma","HP:0000982; Erythrokeratoderma","MONDO:0019270"],"stats":{"number_of_genes":73,"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":null},{"gene_data":{"alias":["Kir2.3","HIR","HRK1","hIRK2","IRK3"],"biotype":"protein_coding","hgnc_id":"HGNC:6265","gene_name":"potassium voltage-gated channel subfamily J member 4","omim_gene":["600504"],"alias_name":null,"gene_symbol":"KCNJ4","hgnc_symbol":"KCNJ4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38822332-38851205","ensembl_id":"ENSG00000168135"}},"GRch38":{"90":{"location":"22:38426327-38455199","ensembl_id":"ENSG00000168135"}}},"hgnc_date_symbol_changed":"1995-04-13"},"entity_type":"gene","entity_name":"KCNJ4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["41830586"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, KCNJ4-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLC4","ClC-4"],"biotype":"protein_coding","hgnc_id":"HGNC:2022","gene_name":"chloride voltage-gated channel 4","omim_gene":["302910"],"alias_name":null,"gene_symbol":"CLCN4","hgnc_symbol":"CLCN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:10125024-10205700","ensembl_id":"ENSG00000073464"}},"GRch38":{"90":{"location":"X:10156945-10237660","ensembl_id":"ENSG00000073464"}}},"hgnc_date_symbol_changed":"1994-01-28"},"entity_type":"gene","entity_name":"CLCN4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27550844"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Raynaud-Claes syndrome, MIM#300114","intellectual disability","epilepsy","autistic features","mood disorders","cerebral white matter changes","progressive appendicular spasticity"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":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":["EHOC-1","TRS130"],"biotype":"protein_coding","hgnc_id":"HGNC:11868","gene_name":"trafficking protein particle complex 10","omim_gene":["602103"],"alias_name":["trafficking protein particle complex subunit 130","TRAPP 130 kDa subunit"],"gene_symbol":"TRAPPC10","hgnc_symbol":"TRAPPC10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45432200-45526433","ensembl_id":"ENSG00000160218"}},"GRch38":{"90":{"location":"21:44012319-44106552","ensembl_id":"ENSG00000160218"}}},"hgnc_date_symbol_changed":"2008-05-07"},"entity_type":"gene","entity_name":"TRAPPC10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35298461","30167849"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027"],"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":["FLJ10140","MTO2"],"biotype":"protein_coding","hgnc_id":"HGNC:25481","gene_name":"tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase","omim_gene":["610230"],"alias_name":null,"gene_symbol":"TRMU","hgnc_symbol":"TRMU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:46726772-46753237","ensembl_id":"ENSG00000100416"}},"GRch38":{"90":{"location":"22:46330875-46357340","ensembl_id":"ENSG00000100416"}}},"hgnc_date_symbol_changed":"2005-08-11"},"entity_type":"gene","entity_name":"TRMU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19732863"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Liver failure, transient infantile, MIM# 613070"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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. 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panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CTLN1"],"biotype":"protein_coding","hgnc_id":"HGNC:758","gene_name":"argininosuccinate synthase 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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":["NOV","QM","DXS648E","DXS648","FLJ23544","L10"],"biotype":"protein_coding","hgnc_id":"HGNC:10298","gene_name":"ribosomal protein L10","omim_gene":["312173"],"alias_name":null,"gene_symbol":"RPL10","hgnc_symbol":"RPL10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153618315-153637504","ensembl_id":"ENSG00000147403"}},"GRch38":{"90":{"location":"X:154389955-154409168","ensembl_id":"ENSG00000147403"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25316788","26290468","25846674","29066376"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Mental retardation, X-linked, syndromic, 35 (MIM#300998)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","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":["Talpid3","JBTS23"],"biotype":"protein_coding","hgnc_id":"HGNC:19960","gene_name":"KIAA0586","omim_gene":["610178"],"alias_name":null,"gene_symbol":"KIAA0586","hgnc_symbol":"KIAA0586","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:58894103-59015216","ensembl_id":"ENSG00000100578"}},"GRch38":{"90":{"location":"14:58427385-58551289","ensembl_id":"ENSG00000100578"}}},"hgnc_date_symbol_changed":"2003-11-21"},"entity_type":"gene","entity_name":"KIAA0586","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26096313"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Joubert syndrome 23 MIM#616490"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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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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":["FLJ33207"],"biotype":"protein_coding","hgnc_id":"HGNC:26576","gene_name":"kyphoscoliosis peptidase","omim_gene":["605739"],"alias_name":null,"gene_symbol":"KY","hgnc_symbol":"KY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:134321980-134370478","ensembl_id":"ENSG00000174611"}},"GRch38":{"90":{"location":"3:134603138-134651636","ensembl_id":"ENSG00000174611"}}},"hgnc_date_symbol_changed":"2004-06-25"},"entity_type":"gene","entity_name":"KY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive"],"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":["HsT2651","CTS"],"biotype":"protein_coding","hgnc_id":"HGNC:12405","gene_name":"transthyretin","omim_gene":["176300"],"alias_name":null,"gene_symbol":"TTR","hgnc_symbol":"TTR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:29171689-29178974","ensembl_id":"ENSG00000118271"}},"GRch38":{"90":{"location":"18:31591726-31599021","ensembl_id":"ENSG00000118271"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TTR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32789836","12771253"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Amyloidosis, hereditary, transthyretin-related, MIM# 105210"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"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. 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It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:19963","gene_name":"tubulin tyrosine ligase like 5","omim_gene":["612268"],"alias_name":null,"gene_symbol":"TTLL5","hgnc_symbol":"TTLL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:76099968-76421421","ensembl_id":"ENSG00000119685"}},"GRch38":{"90":{"location":"14:75633625-75955078","ensembl_id":"ENSG00000119685"}}},"hgnc_date_symbol_changed":"2005-07-29"},"entity_type":"gene","entity_name":"TTLL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30679166"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Cone-rod dystrophy 19,615860"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3147,"hash_id":null,"name":"Cone-rod Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.69","version_created":"2026-04-14T07:26:39.974051+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":["PSA"],"biotype":"protein_coding","hgnc_id":"HGNC:19129","gene_name":"phosphoserine aminotransferase 1","omim_gene":["610936"],"alias_name":null,"gene_symbol":"PSAT1","hgnc_symbol":"PSAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80912059-80945009","ensembl_id":"ENSG00000135069"}},"GRch38":{"90":{"location":"9:78297143-78330093","ensembl_id":"ENSG00000135069"}}},"hgnc_date_symbol_changed":"2003-05-19"},"entity_type":"gene","entity_name":"PSAT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Phosphoserine aminotransferase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EDRF"],"biotype":"protein_coding","hgnc_id":"HGNC:18075","gene_name":"alpha hemoglobin stabilizing protein","omim_gene":["605821"],"alias_name":["alpha hemoglobin stabilising protein"],"gene_symbol":"AHSP","hgnc_symbol":"AHSP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31539185-31540124","ensembl_id":"ENSG00000169877"}},"GRch38":{"90":{"location":"16:31527864-31528803","ensembl_id":"ENSG00000169877"}}},"hgnc_date_symbol_changed":"2009-10-07"},"entity_type":"gene","entity_name":"AHSP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Thalassaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MLCK","smMLCK","MYLK1","MLCK1"],"biotype":"protein_coding","hgnc_id":"HGNC:7590","gene_name":"myosin light chain kinase","omim_gene":["600922"],"alias_name":["smooth muscle myosin light chain kinase"],"gene_symbol":"MYLK","hgnc_symbol":"MYLK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:123328896-123603178","ensembl_id":"ENSG00000065534"}},"GRch38":{"90":{"location":"3:123610049-123884331","ensembl_id":"ENSG00000065534"}}},"hgnc_date_symbol_changed":"1995-07-14"},"entity_type":"gene","entity_name":"MYLK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Aortic aneurysm, familial thoracic 7"],"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:969","gene_name":"Bardet-Biedl syndrome 4","omim_gene":["600374"],"alias_name":null,"gene_symbol":"BBS4","hgnc_symbol":"BBS4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72978527-73030817","ensembl_id":"ENSG00000140463"}},"GRch38":{"90":{"location":"15:72686179-72738476","ensembl_id":"ENSG00000140463"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"BBS4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Bardet-Biedl syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HtrA","IGFBP5-protease","ARMD7"],"biotype":"protein_coding","hgnc_id":"HGNC:9476","gene_name":"HtrA serine peptidase 1","omim_gene":["602194"],"alias_name":null,"gene_symbol":"HTRA1","hgnc_symbol":"HTRA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:124221041-124274424","ensembl_id":"ENSG00000166033"}},"GRch38":{"90":{"location":"10:122461525-122514908","ensembl_id":"ENSG00000166033"}}},"hgnc_date_symbol_changed":"2005-08-18"},"entity_type":"gene","entity_name":"HTRA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["CARASIL syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12541"],"biotype":"protein_coding","hgnc_id":"HGNC:30650","gene_name":"stimulated by retinoic acid 6","omim_gene":["610745"],"alias_name":["retinol binding protein 4 receptor"],"gene_symbol":"STRA6","hgnc_symbol":"STRA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:74471807-74504608","ensembl_id":"ENSG00000137868"}},"GRch38":{"90":{"location":"15:74179466-74212267","ensembl_id":"ENSG00000137868"}}},"hgnc_date_symbol_changed":"2004-12-20"},"entity_type":"gene","entity_name":"STRA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Microphthalmia, syndromic"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics 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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":["H2","H3","H4","H5","CEK","FLG","BFGFR","N-SAM","CD331"],"biotype":"protein_coding","hgnc_id":"HGNC:3688","gene_name":"fibroblast growth factor receptor 1","omim_gene":["136350"],"alias_name":["Pfeiffer syndrome"],"gene_symbol":"FGFR1","hgnc_symbol":"FGFR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38268656-38326352","ensembl_id":"ENSG00000077782"}},"GRch38":{"90":{"location":"8:38411138-38468834","ensembl_id":"ENSG00000077782"}}},"hgnc_date_symbol_changed":"1992-02-25"},"entity_type":"gene","entity_name":"FGFR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Pfeiffer syndrome, MIM# 101600"],"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. 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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":["PPP1R115"],"biotype":"protein_coding","hgnc_id":"HGNC:8104","gene_name":"occludin","omim_gene":["602876"],"alias_name":["tight junction protein occludin TM4 minus","phosphatase 1, regulatory subunit 115"],"gene_symbol":"OCLN","hgnc_symbol":"OCLN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:68788119-68853931","ensembl_id":"ENSG00000197822"}},"GRch38":{"90":{"location":"5:69492292-69558104","ensembl_id":"ENSG00000197822"}}},"hgnc_date_symbol_changed":"1998-01-20"},"entity_type":"gene","entity_name":"OCLN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20727516","32240828","29192239","28386946"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Pseudo-TORCH syndrome 1 (MIM#251290)"],"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":["KIAA1034","FLJ21474"],"biotype":"protein_coding","hgnc_id":"HGNC:21637","gene_name":"SATB homeobox 2","omim_gene":["608148"],"alias_name":null,"gene_symbol":"SATB2","hgnc_symbol":"SATB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:200134223-200335989","ensembl_id":"ENSG00000119042"}},"GRch38":{"90":{"location":"2:199269500-199471266","ensembl_id":"ENSG00000119042"}}},"hgnc_date_symbol_changed":"2003-07-08"},"entity_type":"gene","entity_name":"SATB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29023086","28151491","32446642"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Glass syndrome, MIM# 612313","MONDO:0100147"],"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":["F3","GP135"],"biotype":"protein_coding","hgnc_id":"HGNC:2171","gene_name":"contactin 1","omim_gene":["600016"],"alias_name":["glycoprotein gP135"],"gene_symbol":"CNTN1","hgnc_symbol":"CNTN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:41086244-41466220","ensembl_id":"ENSG00000018236"}},"GRch38":{"90":{"location":"12:40692442-41072418","ensembl_id":"ENSG00000018236"}}},"hgnc_date_symbol_changed":"1994-02-18"},"entity_type":"gene","entity_name":"CNTN1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32779773","19026398"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Myopathy, congenital, Compton-North, OMIM:612540"],"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":["FILIP","KIAA1275"],"biotype":"protein_coding","hgnc_id":"HGNC:21015","gene_name":"filamin A interacting protein 1","omim_gene":["607307"],"alias_name":null,"gene_symbol":"FILIP1","hgnc_symbol":"FILIP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:76001575-76203454","ensembl_id":"ENSG00000118407"}},"GRch38":{"90":{"location":"6:75291859-75493738","ensembl_id":"ENSG00000118407"}}},"hgnc_date_symbol_changed":"2003-05-02"},"entity_type":"gene","entity_name":"FILIP1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["36943452"],"evidence":["Expert Review Green","Literature"],"phenotypes":["ANeuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775"],"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":["TAPA-1","TSPAN28"],"biotype":"protein_coding","hgnc_id":"HGNC:1701","gene_name":"CD81 molecule","omim_gene":["186845"],"alias_name":null,"gene_symbol":"CD81","hgnc_symbol":"CD81","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2397407-2418649","ensembl_id":"ENSG00000110651"}},"GRch38":{"90":{"location":"11:2376177-2397419","ensembl_id":"ENSG00000110651"}}},"hgnc_date_symbol_changed":"1992-10-21"},"entity_type":"gene","entity_name":"CD81","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20237408","35849269"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Immunodeficiency, common variable, 6, 613496 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-87","TTC-15"],"biotype":"protein_coding","hgnc_id":"HGNC:24284","gene_name":"trafficking protein particle complex 12","omim_gene":["614139"],"alias_name":null,"gene_symbol":"TRAPPC12","hgnc_symbol":"TRAPPC12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:3383446-3488865","ensembl_id":"ENSG00000171853"}},"GRch38":{"90":{"location":"2:3379675-3485094","ensembl_id":"ENSG00000171853"}}},"hgnc_date_symbol_changed":"2011-12-12"},"entity_type":"gene","entity_name":"TRAPPC12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32369837","28777934"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PH"],"biotype":"protein_coding","hgnc_id":"HGNC:8582","gene_name":"phenylalanine hydroxylase","omim_gene":["612349"],"alias_name":["phenylalanine 4-monooxygenase"],"gene_symbol":"PAH","hgnc_symbol":"PAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:103230663-103352188","ensembl_id":"ENSG00000171759"}},"GRch38":{"90":{"location":"12:102836885-102958410","ensembl_id":"ENSG00000171759"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["1301187, 13138177"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["phenylketonuria MONDO:0009861"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2860","gene_name":"7-dehydrocholesterol reductase","omim_gene":["602858"],"alias_name":null,"gene_symbol":"DHCR7","hgnc_symbol":"DHCR7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71139239-71163914","ensembl_id":"ENSG00000172893"}},"GRch38":{"90":{"location":"11:71428193-71452868","ensembl_id":"ENSG00000172893"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DHCR7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Smith-Lemli-Opitz syndrome, MIM#270400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC4368","FLJ90469"],"biotype":"protein_coding","hgnc_id":"HGNC:28672","gene_name":"chromosome 17 open reading frame 62","omim_gene":null,"alias_name":null,"gene_symbol":"C17orf62","hgnc_symbol":"C17orf62","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:80400465-80408705","ensembl_id":"ENSG00000178927"}},"GRch38":{"90":{"location":"17:82442589-82450829","ensembl_id":"ENSG00000178927"}}},"hgnc_date_symbol_changed":"2005-12-16"},"entity_type":"gene","entity_name":"C17orf62","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30361506","30312704","28351984"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Chronic granulomatous disease 5, autosomal recessive, MIM# 618935"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name","treatable","immunological"],"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":[]},{"gene_data":{"alias":["SMMHC","SMHC"],"biotype":"protein_coding","hgnc_id":"HGNC:7569","gene_name":"myosin heavy chain 11","omim_gene":["160745"],"alias_name":null,"gene_symbol":"MYH11","hgnc_symbol":"MYH11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:15797029-15950890","ensembl_id":"ENSG00000133392"}},"GRch38":{"90":{"location":"16:15703172-15857033","ensembl_id":"ENSG00000133392"}}},"hgnc_date_symbol_changed":"1991-09-13"},"entity_type":"gene","entity_name":"MYH11","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Aortic aneurysm, familial thoracic 4, MIM#160745"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cardiac","treatable"],"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:4115","gene_name":"galactosylceramidase","omim_gene":["606890"],"alias_name":["Krabbe disease"],"gene_symbol":"GALC","hgnc_symbol":"GALC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:88304164-88460009","ensembl_id":"ENSG00000054983"}},"GRch38":{"90":{"location":"14:87837820-87993665","ensembl_id":"ENSG00000054983"}}},"hgnc_date_symbol_changed":"1989-06-02"},"entity_type":"gene","entity_name":"GALC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20886637","21070211","30899093","24252386"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Krabbe disease, MIM# 245200","MONDO:0009499"],"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":["bA424I5.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21584","gene_name":"NFKB activating protein like","omim_gene":null,"alias_name":null,"gene_symbol":"NKAPL","hgnc_symbol":"NKAPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:28227098-28228736","ensembl_id":"ENSG00000189134"}},"GRch38":{"90":{"location":"6:28259320-28260958","ensembl_id":"ENSG00000189134"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"NKAPL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39824811"],"evidence":["Literature","Expert Review Amber","Expert Review Amber","Literature"],"phenotypes":["Spermatogenic failure, MONDO:0004983, NKAPL-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":"1.143","version_created":"2026-04-13T17:24:02.975530+10:00","relevant_disorders":[],"stats":{"number_of_genes":265,"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":["MI","bHLHe32"],"biotype":"protein_coding","hgnc_id":"HGNC:7105","gene_name":"melanogenesis associated transcription factor","omim_gene":["156845"],"alias_name":["homolog of mouse microphthalmia"],"gene_symbol":"MITF","hgnc_symbol":"MITF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:69788586-70017488","ensembl_id":"ENSG00000187098"}},"GRch38":{"90":{"location":"3:69739435-69968337","ensembl_id":"ENSG00000187098"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"MITF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7874167","23512835","27759048","28356565"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Waardenburg syndrome type 2A MONDO:0008671"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4457,"hash_id":null,"name":"Hereditary Pigmentary Disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum","status":"public","version":"1.5","version_created":"2026-01-02T16:51:24.217185+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"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"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PC1","PC3","SPC3"],"biotype":"protein_coding","hgnc_id":"HGNC:8743","gene_name":"proprotein convertase subtilisin/kexin type 1","omim_gene":["162150"],"alias_name":["prohormone convertase 3","prohormone convertase 1","neuroendocrine convertase 1","proprotein convertase 1"],"gene_symbol":"PCSK1","hgnc_symbol":"PCSK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:95726119-95769847","ensembl_id":"ENSG00000175426"}},"GRch38":{"90":{"location":"5:96390415-96434143","ensembl_id":"ENSG00000175426"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"PCSK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30383237"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Obesity with impaired prohormone processing MIM#600955"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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_TTTCA","confidence_level":"3","penetrance":null,"publications":["30194086","29507423"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Epilepsy, familial adult myoclonic, 1 MIM#601068"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","repeated_sequence":"TTTCA","chromosome":"8","grch37_coordinates":[119379055,119379157],"grch38_coordinates":[118366816,118366918],"normal_repeats":0,"pathogenic_repeats":100,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"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":[]}}]}