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{ "count": 36033, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=21", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=19", "results": [ { "gene_data": { "alias": [ "KIAA1236", "DKFZP434N178" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20226", "gene_name": "kinesin family member 26A", "omim_gene": [ "613231" ], "alias_name": null, "gene_symbol": "KIF26A", "hgnc_symbol": "KIF26A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:104605060-104647231", "ensembl_id": "ENSG00000066735" } }, "GRch38": { "90": { "location": "14:104138723-104180894", "ensembl_id": "ENSG00000066735" } } }, "hgnc_date_symbol_changed": "2003-01-15" }, "entity_type": "gene", "entity_name": "KIF26A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36228617" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 18, "hash_id": null, "name": "Polymicrogyria and Schizencephaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.", "status": "public", "version": "0.204", "version_created": "2025-12-18T09:49:46.643708+11:00", "relevant_disorders": [ "Polymicrogyria", "HP:0002126;Schizencephaly", "HP:0010636" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSPF3", "CMT2T" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5228", "gene_name": "DnaJ heat shock protein family (Hsp40) member B2", "omim_gene": [ "604139" ], "alias_name": null, "gene_symbol": "DNAJB2", "hgnc_symbol": "DNAJB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:220143989-220151622", "ensembl_id": "ENSG00000135924" } }, "GRch38": { "90": { "location": "2:219279267-219286900", "ensembl_id": "ENSG00000135924" } } }, "hgnc_date_symbol_changed": "1997-08-15" }, "entity_type": "gene", "entity_name": "DNAJB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SRYP", "NEM8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30372", "gene_name": "kelch like family member 40", "omim_gene": [ "615340" ], "alias_name": [ "sarcosynapsin", "nemaline myopathy type 8" ], "gene_symbol": "KLHL40", "hgnc_symbol": "KLHL40", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:42727011-42734036", "ensembl_id": "ENSG00000157119" } }, "GRch38": { "90": { "location": "3:42685519-42692544", "ensembl_id": "ENSG00000157119" } } }, "hgnc_date_symbol_changed": "2013-01-08" }, "entity_type": "gene", "entity_name": "KLHL40", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23746549", "24960163", "32352246", "31908664", "27528495" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nemaline myopathy 8, autosomal recessive, MIM# 615348" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:22923", "gene_name": "GDP-mannose pyrophosphorylase A", "omim_gene": [ "615495" ], "alias_name": null, "gene_symbol": "GMPPA", "hgnc_symbol": "GMPPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:220363589-220371710", "ensembl_id": "ENSG00000144591" } }, "GRch38": { "90": { "location": "2:219498867-219506989", "ensembl_id": "ENSG00000144591" } } }, "hgnc_date_symbol_changed": "2005-01-10" }, "entity_type": "gene", "entity_name": "GMPPA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24035193", "28574218" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 68, "hash_id": null, "name": "Congenital Disorders of Glycosylation", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.85", "version_created": "2026-04-02T10:46:27.496905+11:00", "relevant_disorders": [ "Abnormal transferrin saturation", "HP:0040135" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GDH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4335", "gene_name": "glutamate dehydrogenase 1", "omim_gene": [ "138130" ], "alias_name": null, "gene_symbol": "GLUD1", "hgnc_symbol": "GLUD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:88810243-88854623", "ensembl_id": "ENSG00000148672" } }, "GRch38": { "90": { "location": "10:87050486-87094866", "ensembl_id": "ENSG00000148672" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GLUD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11214910", "11297618" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperinsulinism-hyperammonemia syndrome, MIM# 606762" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 103, "hash_id": null, "name": "Fatty Acid Oxidation Defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.", "status": "public", "version": "1.15", "version_created": "2025-11-20T16:48:15.748218+11:00", "relevant_disorders": [ "Abnormal circulating fatty acid concentration", "HP:0004359; Rhabdomyolysis", "HP:0003201; Hypoglycaemia", "HP:0001943" ], "stats": { "number_of_genes": 33, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BART1", "BART" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17146", "gene_name": "ADP ribosylation factor like GTPase 2 binding protein", "omim_gene": [ "615407" ], "alias_name": [ "binder of Arl2" ], "gene_symbol": "ARL2BP", "hgnc_symbol": "ARL2BP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:57279010-57287516", "ensembl_id": "ENSG00000102931" } }, "GRch38": { "90": { "location": "16:57245098-57253635", "ensembl_id": "ENSG00000102931" } } }, "hgnc_date_symbol_changed": "2004-02-12" }, "entity_type": "gene", "entity_name": "ARL2BP", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 23849777" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Retinitis pigmentosa with or without situs inversus MIM#615434" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 108, "hash_id": null, "name": "Heterotaxy", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.45", "version_created": "2026-03-17T16:09:39.911604+11:00", "relevant_disorders": [ "Heterotaxy", "HP:0030853; Dextrocardia", "HP:0001651; Asplenia", "HP:0001746; Abnormal spatial orientation of cardiac segments", "HP:0011534; Polysplenia", "HP:0001748;Midline liver", "HP:0034188" ], "stats": { "number_of_genes": 67, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDHF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3036", "gene_name": "desmocollin 2", "omim_gene": [ "125645" ], "alias_name": null, "gene_symbol": "DSC2", "hgnc_symbol": "DSC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:28645940-28682378", "ensembl_id": "ENSG00000134755" } }, "GRch38": { "90": { "location": "18:31058840-31102415", "ensembl_id": "ENSG00000134755" } } }, "hgnc_date_symbol_changed": "1997-05-29" }, "entity_type": "gene", "entity_name": "DSC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33831308", "17963498", "21062920", "23863954", "17186466", "18957847", "17033975", "28339476" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Arrhythmogenic right ventricular dysplasia 11, MIM# 610476", "Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [ "cardiac" ], "panel": { "id": 126, "hash_id": null, "name": "Incidentalome", "disease_group": "", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).", "status": "public", "version": "0.433", "version_created": "2026-03-25T17:03:27.624542+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 161, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12584", "KIAA1868", "ARM", "KU-MEL-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20730", "gene_name": "armadillo repeat containing 9", "omim_gene": [ "617612" ], "alias_name": null, "gene_symbol": "ARMC9", "hgnc_symbol": "ARMC9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:232063260-232239548", "ensembl_id": "ENSG00000135931" } }, "GRch38": { "90": { "location": "2:231198546-231374837", "ensembl_id": "ENSG00000135931" } } }, "hgnc_date_symbol_changed": "2005-10-04" }, "entity_type": "gene", "entity_name": "ARMC9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28625504" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Joubert syndrome 30, MIM#\t617622" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 129, "hash_id": null, "name": "Joubert syndrome and other neurological ciliopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.", "status": "public", "version": "1.33", "version_created": "2025-12-16T12:55:34.757878+11:00", "relevant_disorders": [ "Molar tooth sign on MRI", "HP:0002419; Joubert syndrome", "MONDO:0018772" ], "stats": { "number_of_genes": 69, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11834", "gene_name": "transketolase", "omim_gene": [ "606781" ], "alias_name": [ "Wernicke-Korsakoff syndrome" ], "gene_symbol": "TKT", "hgnc_symbol": "TKT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:53258723-53290068", "ensembl_id": "ENSG00000163931" } }, "GRch38": { "90": { "location": "3:53224707-53256052", "ensembl_id": "ENSG00000163931" } } }, "hgnc_date_symbol_changed": "1992-06-10" }, "entity_type": "gene", "entity_name": "TKT", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27259054" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Short stature, developmental delay, and congenital heart defects", "OMIM #617044" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JBTS14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14432", "gene_name": "transmembrane protein 237", "omim_gene": [ "614423" ], "alias_name": null, "gene_symbol": "TMEM237", "hgnc_symbol": "TMEM237", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:202484907-202508293", "ensembl_id": "ENSG00000155755" } }, "GRch38": { "90": { "location": "2:201620184-201643570", "ensembl_id": "ENSG00000155755" } } }, "hgnc_date_symbol_changed": "2011-05-20" }, "entity_type": "gene", "entity_name": "TMEM237", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 14, MIM# 614424" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TBC", "TBC1", "KIAA1108" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11578", "gene_name": "TBC1 domain family member 1", "omim_gene": [ "609850" ], "alias_name": null, "gene_symbol": "TBC1D1", "hgnc_symbol": "TBC1D1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:37892708-38140796", "ensembl_id": "ENSG00000065882" } }, "GRch38": { "90": { "location": "4:37891087-38139175", "ensembl_id": "ENSG00000065882" } } }, "hgnc_date_symbol_changed": "2000-03-06" }, "entity_type": "gene", "entity_name": "TBC1D1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26572137" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "CAKUT", "Non-syndromic renal or urinary tract malformation, MONDO:0019720" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD360" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6006", "gene_name": "interleukin 21 receptor", "omim_gene": [ "605383" ], "alias_name": null, "gene_symbol": "IL21R", "hgnc_symbol": "IL21R", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:27413483-27462115", "ensembl_id": "ENSG00000103522" } }, "GRch38": { "90": { "location": "16:27402162-27452042", "ensembl_id": "ENSG00000103522" } } }, "hgnc_date_symbol_changed": "2000-03-29" }, "entity_type": "gene", "entity_name": "IL21R", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33929673" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Immunodeficiency 56, MIM# 615207" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7576", "gene_name": "myosin heavy chain 6", "omim_gene": [ "160710" ], "alias_name": [ "cardiomyopathy, hypertrophic 1" ], "gene_symbol": "MYH6", "hgnc_symbol": "MYH6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23851199-23877486", "ensembl_id": "ENSG00000197616" } }, "GRch38": { "90": { "location": "14:23381990-23408277", "ensembl_id": "ENSG00000197616" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "MYH6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32656206", "31638415", "29969989", "29536580", "29332214", "30681346", "28991257" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Atrial septal defect 3 MIM#614089", "MYH-6 related congenital heart defects MONDO:0800442", "Cardiomyopathy, dilated, 1EE MIM#613252", "Cardiomyopathy, hypertrophic, 14 MIM#613251", "{Sick sinus syndrome 3} MIM#614090" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20303", "TRM4", "Misu" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25994", "gene_name": "NOP2/Sun RNA methyltransferase family member 2", "omim_gene": [ "610916" ], "alias_name": [ "tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein" ], "gene_symbol": "NSUN2", "hgnc_symbol": "NSUN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:6599352-6633404", "ensembl_id": "ENSG00000037474" } }, "GRch38": { "90": { "location": "5:6599239-6633291", "ensembl_id": "ENSG00000037474" } } }, "hgnc_date_symbol_changed": "2004-08-25" }, "entity_type": "gene", "entity_name": "NSUN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22541559", "22541562", "21063731", "22577224", "35126837" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal recessive 5 - MIM#611091" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TRC8", "RCA1", "HRCA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17023", "gene_name": "ring finger protein 139", "omim_gene": [ "603046" ], "alias_name": null, "gene_symbol": "RNF139", "hgnc_symbol": "RNF139", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:125486979-125500155", "ensembl_id": "ENSG00000170881" } }, "GRch38": { "90": { "location": "8:124474738-124487914", "ensembl_id": "ENSG00000170881" } } }, "hgnc_date_symbol_changed": "2003-05-21" }, "entity_type": "gene", "entity_name": "RNF139", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9689122" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Renal cell carcinoma MIM#144700" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dJ111C20.1", "RSP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21054", "gene_name": "radial spoke head 3 homolog", "omim_gene": [ "615876" ], "alias_name": null, "gene_symbol": "RSPH3", "hgnc_symbol": "RSPH3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:159393903-159421219", "ensembl_id": "ENSG00000130363" } }, "GRch38": { "90": { "location": "6:158972871-159000187", "ensembl_id": "ENSG00000130363" } } }, "hgnc_date_symbol_changed": "2007-06-26" }, "entity_type": "gene", "entity_name": "RSPH3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26073779" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 32 MIM#616481" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UGTREL7", "KIAA0260" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20800", "gene_name": "solute carrier family 35 member D1", "omim_gene": [ "610804" ], "alias_name": null, "gene_symbol": "SLC35D1", "hgnc_symbol": "SLC35D1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:67465015-67519782", "ensembl_id": "ENSG00000116704" } }, "GRch38": { "90": { "location": "1:66999332-67054099", "ensembl_id": "ENSG00000116704" } } }, "hgnc_date_symbol_changed": "2003-04-09" }, "entity_type": "gene", "entity_name": "SLC35D1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31423530", "19508970", "17952091" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Schneckenbecken dysplasia, MIM 269250, MONDO:0010013", "O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11180", "gene_name": "superoxide dismutase 2", "omim_gene": [ "147460" ], "alias_name": null, "gene_symbol": "SOD2", "hgnc_symbol": "SOD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:160090089-160183561", "ensembl_id": "ENSG00000112096" } }, "GRch38": { "90": { "location": "6:159669057-159762529", "ensembl_id": "ENSG00000112096" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "SOD2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31494578" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Microvascular complications of diabetes 6} 612634", "Dilated cardiomyopathy MONDO:0005021, lethal neonatal, SOD2-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NKCC1", "BSC", "BSC2", "PPP1R141" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10911", "gene_name": "solute carrier family 12 member 2", "omim_gene": [ "600840" ], "alias_name": [ "bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141" ], "gene_symbol": "SLC12A2", "hgnc_symbol": "SLC12A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:127419458-127525380", "ensembl_id": "ENSG00000064651" } }, "GRch38": { "90": { "location": "5:128083766-128189688", "ensembl_id": "ENSG00000064651" } } }, "hgnc_date_symbol_changed": "1994-02-16" }, "entity_type": "gene", "entity_name": "SLC12A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28135719", "32658972", "27900370", "32294086", "29288388", "30740830", "32754646" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Delpire-McNeill syndrome, MIM#\t619083", "Kilquist syndrome, MIM#619080", "deafness, intellectual disability, dysmorphic features, absent salivation", "Deafness, autosomal dominant 78, MIM#619081", "Congenital, severe to profound hearing loss" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "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": [ "KIAA0079" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10705", "gene_name": "SEC24 homolog C, COPII coat complex component", "omim_gene": [ "607185" ], "alias_name": null, "gene_symbol": "SEC24C", "hgnc_symbol": "SEC24C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:75504120-75531919", "ensembl_id": "ENSG00000176986" } }, "GRch38": { "90": { "location": "10:73744384-73772161", "ensembl_id": "ENSG00000176986" } } }, "hgnc_date_symbol_changed": "2000-01-07" }, "entity_type": "gene", "entity_name": "SEC24C", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40131364" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SEC24C-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "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": [ "A1", "RFC37" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9972", "gene_name": "replication factor C subunit 4", "omim_gene": [ "102577" ], "alias_name": [ "A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit" ], "gene_symbol": "RFC4", "hgnc_symbol": "RFC4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:186507669-186524847", "ensembl_id": "ENSG00000163918" } }, "GRch38": { "90": { "location": "3:186789880-186807058", "ensembl_id": "ENSG00000163918" } } }, "hgnc_date_symbol_changed": "1994-10-14" }, "entity_type": "gene", "entity_name": "RFC4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39106866" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "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": [ "TBL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18502", "gene_name": "transducin beta like 1 Y-linked", "omim_gene": [ "400033" ], "alias_name": null, "gene_symbol": "TBL1Y", "hgnc_symbol": "TBL1Y", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "Y:6778727-6959724", "ensembl_id": "ENSG00000092377" } }, "GRch38": { "90": { "location": "Y:6910686-7091683", "ensembl_id": "ENSG00000092377" } } }, "hgnc_date_symbol_changed": "2002-05-22" }, "entity_type": "gene", "entity_name": "TBL1Y", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30341416" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Deafness, Y-linked 2, MIM# 400047" ], "mode_of_inheritance": "Other", "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AKA", "Math4C", "ngn1", "bHLHa6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7764", "gene_name": "neurogenin 1", "omim_gene": [ "601726" ], "alias_name": [ "neurogenic differentiation 3" ], "gene_symbol": "NEUROG1", "hgnc_symbol": "NEUROG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:134869991-134871639", "ensembl_id": "ENSG00000181965" } }, "GRch38": { "90": { "location": "5:135534282-135535949", "ensembl_id": "ENSG00000181965" } } }, "hgnc_date_symbol_changed": "1997-04-10" }, "entity_type": "gene", "entity_name": "NEUROG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23419067", "26077850", "33439489", "36647078" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20043", "gene_name": "gem nuclear organelle associated protein 5", "omim_gene": [ "607005" ], "alias_name": null, "gene_symbol": "GEMIN5", "hgnc_symbol": "GEMIN5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:154266976-154317769", "ensembl_id": "ENSG00000082516" } }, "GRch38": { "90": { "location": "5:154887416-154938209", "ensembl_id": "ENSG00000082516" } } }, "hgnc_date_symbol_changed": "2002-12-16" }, "entity_type": "gene", "entity_name": "GEMIN5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33963192" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "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": [ "COX4-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2265", "gene_name": "cytochrome c oxidase subunit 4I1", "omim_gene": [ "123864" ], "alias_name": null, "gene_symbol": "COX4I1", "hgnc_symbol": "COX4I1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:85832239-85840650", "ensembl_id": "ENSG00000131143" } }, "GRch38": { "90": { "location": "16:85798633-85807044", "ensembl_id": "ENSG00000131143" } } }, "hgnc_date_symbol_changed": "2001-12-07" }, "entity_type": "gene", "entity_name": "COX4I1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28766551", "22592081", "31290619", "40095452", "41203052" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "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": [ "KIAA0400", "PAP", "SHAG1", "CENTB3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2721", "gene_name": "ArfGAP with SH3 domain, ankyrin repeat and PH domain 2", "omim_gene": [ "603817" ], "alias_name": [ "centaurin, beta 3" ], "gene_symbol": "ASAP2", "hgnc_symbol": "ASAP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:9346894-9545812", "ensembl_id": "ENSG00000151693" } }, "GRch38": { "90": { "location": "2:9206765-9405683", "ensembl_id": "ENSG00000151693" } } }, "hgnc_date_symbol_changed": "2008-09-22" }, "entity_type": "gene", "entity_name": "ASAP2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40770811", "28191890", "33057194", "35982160" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, ASAP2-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KRAS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6407", "gene_name": "KRAS proto-oncogene, GTPase", "omim_gene": [ "190070" ], "alias_name": null, "gene_symbol": "KRAS", "hgnc_symbol": "KRAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:25357723-25403870", "ensembl_id": "ENSG00000133703" } }, "GRch38": { "90": { "location": "12:25204789-25250936", "ensembl_id": "ENSG00000133703" } } }, "hgnc_date_symbol_changed": "2005-01-24" }, "entity_type": "gene", "entity_name": "KRAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 152, "hash_id": null, "name": "Cancer Predisposition_Paediatric", "disease_group": "Cancer", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.133", "version_created": "2026-01-12T09:35:45.797477+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 106, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11194", "gene_name": "SRY-box 18", "omim_gene": [ "601618" ], "alias_name": null, "gene_symbol": "SOX18", "hgnc_symbol": "SOX18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:62679076-62680994", "ensembl_id": "ENSG00000203883" } }, "GRch38": { "90": { "location": "20:64047582-64049641", "ensembl_id": "ENSG00000203883" } } }, "hgnc_date_symbol_changed": "2000-07-31" }, "entity_type": "gene", "entity_name": "SOX18", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30549413", "33851505" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM#\t137940" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 162, "hash_id": null, "name": "Pulmonary Fibrosis_Interstitial Lung Disease", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.", "status": "public", "version": "1.10", "version_created": "2026-03-17T11:39:32.713501+11:00", "relevant_disorders": [ "Pulmonary fibrosis", "HP:0002206; Abnormal pulmonary interstitial morphology", "HP:0006530" ], "stats": { "number_of_genes": 97, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0862", "SOC2", "SUR-8", "SOC-2", "SUR8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15454", "gene_name": "SHOC2, leucine rich repeat scaffold protein", "omim_gene": [ "602775" ], "alias_name": null, "gene_symbol": "SHOC2", "hgnc_symbol": "SHOC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:112679301-112773425", "ensembl_id": "ENSG00000108061" } }, "GRch38": { "90": { "location": "10:110919547-111013667", "ensembl_id": "ENSG00000108061" } } }, "hgnc_date_symbol_changed": "2001-03-30" }, "entity_type": "gene", "entity_name": "SHOC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "19684605", "23918763", "20882035" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Noonan syndrome-like with loose anagen hair 1, MIM# 607721" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 164, "hash_id": null, "name": "Rasopathy", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the ClinGen Rasopathy Working Group gene-disease validity assessments (PMID: 30311384) and against the Genomics England PanelApp Rasopathies panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "0.113", "version_created": "2026-01-26T17:08:48.260163+11:00", "relevant_disorders": [ "Rasopathy", "MONDO:0021060" ], "stats": { "number_of_genes": 32, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ23590" ], "biotype": "protein_coding", "hgnc_id": "HGNC:966", "gene_name": "Bardet-Biedl syndrome 1", "omim_gene": [ "209901" ], "alias_name": null, "gene_symbol": "BBS1", "hgnc_symbol": "BBS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:66278077-66301098", "ensembl_id": "ENSG00000174483" } }, "GRch38": { "90": { "location": "11:66510606-66533627", "ensembl_id": "ENSG00000174483" } } }, "hgnc_date_symbol_changed": "1994-01-28" }, "entity_type": "gene", "entity_name": "BBS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20177705" ], "evidence": [ "Expert Review Green", "KidGen_CilioNephronop v38.1.0", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 1, MIM# 209900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 193, "hash_id": null, "name": "Renal Ciliopathies and Nephronophthisis", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen", "status": "public", "version": "1.53", "version_created": "2026-03-19T17:14:29.802874+11:00", "relevant_disorders": [ "Abnormality of renal medullary morphology", "HP:0025361; Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "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": [ "MGC4607", "OSM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21708", "gene_name": "CCM2 scaffolding protein", "omim_gene": [ "607929" ], "alias_name": [ "malcavernin", "osmosensing scaffold for MEKK3" ], "gene_symbol": "CCM2", "hgnc_symbol": "CCM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:45039074-45116068", "ensembl_id": "ENSG00000136280" } }, "GRch38": { "90": { "location": "7:44999475-45076469", "ensembl_id": "ENSG00000136280" } } }, "hgnc_date_symbol_changed": "2004-02-18" }, "entity_type": "gene", "entity_name": "CCM2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32702807" ], "evidence": [ "Expert Review Green", "Expert Review Red", "Expert Review" ], "phenotypes": [ "Cerebral cavernous malformations-2, MIM#603284" ], "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": [ "GTAR", "KIAA0697", "FLJ22206", "NY-BR-16", "MASK2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23575", "gene_name": "ankyrin repeat domain 17", "omim_gene": [ "615929" ], "alias_name": null, "gene_symbol": "ANKRD17", "hgnc_symbol": "ANKRD17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:73939093-74124515", "ensembl_id": "ENSG00000132466" } }, "GRch38": { "90": { "location": "4:73073376-73258798", "ensembl_id": "ENSG00000132466" } } }, "hgnc_date_symbol_changed": "2003-11-25" }, "entity_type": "gene", "entity_name": "ANKRD17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33909992" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Chopra-Amiel-Gordan syndrome, MIM# 619504", "Intellectual disability", "dysmorphic features" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC19780" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28287", "gene_name": "ALG14, UDP-N-acetylglucosaminyltransferase subunit", "omim_gene": [ "612866" ], "alias_name": null, "gene_symbol": "ALG14", "hgnc_symbol": "ALG14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:95439963-95538501", "ensembl_id": "ENSG00000172339" } }, "GRch38": { "90": { "location": "1:94974407-95072945", "ensembl_id": "ENSG00000172339" } } }, "hgnc_date_symbol_changed": "2005-08-09" }, "entity_type": "gene", "entity_name": "ALG14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30221345, 23404334, 28733338, 33751823, 34971077" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031", "Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ38663", "SPG55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26784", "gene_name": "chromosome 12 open reading frame 65", "omim_gene": [ "613541" ], "alias_name": null, "gene_symbol": "C12orf65", "hgnc_symbol": "C12orf65", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:123717463-123742506", "ensembl_id": "ENSG00000130921" } }, "GRch38": { "90": { "location": "12:123232916-123257959", "ensembl_id": "ENSG00000130921" } } }, "hgnc_date_symbol_changed": "2007-02-26" }, "entity_type": "gene", "entity_name": "C12orf65", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23188110", "24080142", "24198383", "20598281", "32808965", "32478789", "28804760" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Spastic paraplegia 55, autosomal recessive, MIM#615035", "Combined oxidative phosphorylation deficiency 7, MIM# 613559" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "APH2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20714", "gene_name": "zinc finger DHHC-type containing 16", "omim_gene": [ "616750" ], "alias_name": null, "gene_symbol": "ZDHHC16", "hgnc_symbol": "ZDHHC16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:99205927-99217127", "ensembl_id": "ENSG00000171307" } }, "GRch38": { "90": { "location": "10:97446131-97457370", "ensembl_id": "ENSG00000171307" } } }, "hgnc_date_symbol_changed": "2003-03-21" }, "entity_type": "gene", "entity_name": "ZDHHC16", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39313616" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, ZDHHC16-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PALMCOX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:119", "gene_name": "acyl-CoA oxidase 1", "omim_gene": [ "609751" ], "alias_name": [ "palmitoyl-CoA oxidase" ], "gene_symbol": "ACOX1", "hgnc_symbol": "ACOX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:73937588-73975515", "ensembl_id": "ENSG00000161533" } }, "GRch38": { "90": { "location": "17:75941507-75979363", "ensembl_id": "ENSG00000161533" } } }, "hgnc_date_symbol_changed": "1994-02-11" }, "entity_type": "gene", "entity_name": "ACOX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32169171", "35715200" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitchell syndrome, MIM# 618960" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "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": [] }, { "gene_data": { "alias": [ "IRAK", "pelle" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6112", "gene_name": "interleukin 1 receptor associated kinase 1", "omim_gene": [ "300283" ], "alias_name": null, "gene_symbol": "IRAK1", "hgnc_symbol": "IRAK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153275951-153285431", "ensembl_id": "ENSG00000184216" } }, "GRch38": { "90": { "location": "X:154010500-154019980", "ensembl_id": "ENSG00000184216" } } }, "hgnc_date_symbol_changed": "1998-06-22" }, "entity_type": "gene", "entity_name": "IRAK1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28069966" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Susceptibility to bacterial infections" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "SV/CNV" ], "panel": { "id": 231, "hash_id": null, "name": "Defects of intrinsic and innate immunity", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.36", "version_created": "2026-04-08T12:35:08.612526+10:00", "relevant_disorders": [ "Unusual infections", "HP:0032101" ], "stats": { "number_of_genes": 86, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CD288" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15632", "gene_name": "toll like receptor 8", "omim_gene": [ "300366" ], "alias_name": null, "gene_symbol": "TLR8", "hgnc_symbol": "TLR8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:12924739-12941288", "ensembl_id": "ENSG00000101916" } }, "GRch38": { "90": { "location": "X:12906620-12923169", "ensembl_id": "ENSG00000101916" } } }, "hgnc_date_symbol_changed": "2001-04-27" }, "entity_type": "gene", "entity_name": "TLR8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34981838", "33512449" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoinflammatory syndrome MONDO:0019751, TLR8-associated" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ADHAPS", "ADAS", "ALDHPSY", "ADPS", "ADAP-S" ], "biotype": "protein_coding", "hgnc_id": "HGNC:327", "gene_name": "alkylglycerone phosphate synthase", "omim_gene": [ "603051" ], "alias_name": null, "gene_symbol": "AGPS", "hgnc_symbol": "AGPS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:178257372-178408564", "ensembl_id": "ENSG00000018510" } }, "GRch38": { "90": { "location": "2:177392644-177559299", "ensembl_id": "ENSG00000018510" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "AGPS", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Rhizomelic chondrodysplasia punctata, type 3, MIM#600121" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP762N2316", "KIAA1803", "Zfp462" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21684", "gene_name": "zinc finger protein 462", "omim_gene": [ "617371" ], "alias_name": null, "gene_symbol": "ZNF462", "hgnc_symbol": "ZNF462", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:109625378-109775915", "ensembl_id": "ENSG00000148143" } }, "GRch38": { "90": { "location": "9:106863097-107013634", "ensembl_id": "ENSG00000148143" } } }, "hgnc_date_symbol_changed": "2004-01-05" }, "entity_type": "gene", "entity_name": "ZNF462", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31361404", "28513610" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Weiss-Kruszka syndrome, OMIM# 618619" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:19829", "gene_name": "family with sequence similarity 177 member A1", "omim_gene": null, "alias_name": null, "gene_symbol": "FAM177A1", "hgnc_symbol": "FAM177A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:35514113-35582336", "ensembl_id": "ENSG00000151327" } }, "GRch38": { "90": { "location": "14:35044907-35113130", "ensembl_id": "ENSG00000151327" } } }, "hgnc_date_symbol_changed": "2008-07-09" }, "entity_type": "gene", "entity_name": "FAM177A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38767059, 25558065" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with white matter abnormalities and gait disturbance, MIM# 621152" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZP434K1421", "NSrp70" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25305", "gene_name": "nuclear speckle splicing regulatory protein 1", "omim_gene": [ "616173" ], "alias_name": null, "gene_symbol": "NSRP1", "hgnc_symbol": "NSRP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:28442539-28513493", "ensembl_id": "ENSG00000126653" } }, "GRch38": { "90": { "location": "17:30115521-30186475", "ensembl_id": "ENSG00000126653" } } }, "hgnc_date_symbol_changed": "2011-05-24" }, "entity_type": "gene", "entity_name": "NSRP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34385670" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epilepsy", "Cerebral palsy", "microcephaly", "Intellectual disability" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:37247", "gene_name": "BLOC-1 related complex subunit 8", "omim_gene": [ "616601" ], "alias_name": null, "gene_symbol": "BORCS8", "hgnc_symbol": "BORCS8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:19287712-19303400", "ensembl_id": "ENSG00000254901" } }, "GRch38": { "90": { "location": "19:19176903-19192591", "ensembl_id": "ENSG00000254901" } } }, "hgnc_date_symbol_changed": "2015-08-07" }, "entity_type": "gene", "entity_name": "BORCS8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38128568" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDHF14", "FAT-J", "CDHR11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23109", "gene_name": "FAT atypical cadherin 4", "omim_gene": [ "612411" ], "alias_name": [ "cadherin-related family member 11" ], "gene_symbol": "FAT4", "hgnc_symbol": "FAT4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:126237554-126414087", "ensembl_id": "ENSG00000196159" } }, "GRch38": { "90": { "location": "4:125316399-125492932", "ensembl_id": "ENSG00000196159" } } }, "hgnc_date_symbol_changed": "2003-09-11" }, "entity_type": "gene", "entity_name": "FAT4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29681106" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Hennekam syndrome MONDO:0016256", "van Maldergem syndrome MONDO:0017813" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DNPK1", "p350", "DNAPK", "XRCC7", "DNA-PKcs" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9413", "gene_name": "protein kinase, DNA-activated, catalytic polypeptide", "omim_gene": [ "600899" ], "alias_name": [ "DNA-dependent protein kinase" ], "gene_symbol": "PRKDC", "hgnc_symbol": "PRKDC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:48685669-48872743", "ensembl_id": "ENSG00000253729" } }, "GRch38": { "90": { "location": "8:47773108-47960183", "ensembl_id": "ENSG00000253729" } } }, "hgnc_date_symbol_changed": "1993-11-09" }, "entity_type": "gene", "entity_name": "PRKDC", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19075392", "23722905" ], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PACT", "RAX", "HSD14", "DYT16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9438", "gene_name": "protein activator of interferon induced protein kinase EIF2AK2", "omim_gene": [ "603424" ], "alias_name": [ "protein activator of the interferon-induced protein kinase" ], "gene_symbol": "PRKRA", "hgnc_symbol": "PRKRA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:179296141-179316239", "ensembl_id": "ENSG00000180228" } }, "GRch38": { "90": { "location": "2:178431414-178451512", "ensembl_id": "ENSG00000180228" } } }, "hgnc_date_symbol_changed": "1999-12-07" }, "entity_type": "gene", "entity_name": "PRKRA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Dystonia 16, MIM#612067" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12774", "gene_name": "Wnt family member 1", "omim_gene": [ "164820" ], "alias_name": null, "gene_symbol": "WNT1", "hgnc_symbol": "WNT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49372398-49375459", "ensembl_id": "ENSG00000125084" } }, "GRch38": { "90": { "location": "12:48978453-48981676", "ensembl_id": "ENSG00000125084" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "WNT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Osteogenesis imperfecta, type XV", "OMIM# 615220" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10011", "gene_name": "Ras homolog, mTORC1 binding", "omim_gene": [ "601293" ], "alias_name": null, "gene_symbol": "RHEB", "hgnc_symbol": "RHEB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:151163098-151217206", "ensembl_id": "ENSG00000106615" } }, "GRch38": { "90": { "location": "7:151466012-151520120", "ensembl_id": "ENSG00000106615" } } }, "hgnc_date_symbol_changed": "2003-07-14" }, "entity_type": "gene", "entity_name": "RHEB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31337748", "29051493" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, RHEB-related", "Intellectual disability", "Macrocephaly", "Focal cortical dysplasia" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FACE-1", "Ste24p", "STE24", "HGPS", "PRO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12877", "gene_name": "zinc metallopeptidase STE24", "omim_gene": [ "606480" ], "alias_name": [ "Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog" ], "gene_symbol": "ZMPSTE24", "hgnc_symbol": "ZMPSTE24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:40723779-40759856", "ensembl_id": "ENSG00000084073" } }, "GRch38": { "90": { "location": "1:40258107-40294184", "ensembl_id": "ENSG00000084073" } } }, "hgnc_date_symbol_changed": "1999-09-17" }, "entity_type": "gene", "entity_name": "ZMPSTE24", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "NHS GMS", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Restrictive dermopathy, lethal 275210", "Mandibuloacral dysplasia with type B lipodystrophy 608612" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CYPB", "OI9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9255", "gene_name": "peptidylprolyl isomerase B", "omim_gene": [ "123841" ], "alias_name": [ "cyclophilin B" ], "gene_symbol": "PPIB", "hgnc_symbol": "PPIB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:64448011-64455404", "ensembl_id": "ENSG00000166794" } }, "GRch38": { "90": { "location": "15:64155812-64163205", "ensembl_id": "ENSG00000166794" } } }, "hgnc_date_symbol_changed": "1991-11-25" }, "entity_type": "gene", "entity_name": "PPIB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Illumina TruGenome Clinical Sequencing Services", "Expert", "UKGTN", "Radboud University Medical Center, Nijmegen", "Expert Review Green", "NHS GMS", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Osteogenesis imperfecta, type IX 259440", "Osteogenesis imperfecta, type IX\t259440" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KNS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6324", "gene_name": "kinesin family member 5B", "omim_gene": [ "602809" ], "alias_name": null, "gene_symbol": "KIF5B", "hgnc_symbol": "KIF5B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:32297938-32345359", "ensembl_id": "ENSG00000170759" } }, "GRch38": { "90": { "location": "10:32009010-32056431", "ensembl_id": "ENSG00000170759" } } }, "hgnc_date_symbol_changed": "1998-08-24" }, "entity_type": "gene", "entity_name": "KIF5B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35342932" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Skeletal dysplasia, MONDO:0018230, KIF5B-related", "Kyphomelic dysplasia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC4767" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28722", "gene_name": "coenzyme Q5, methyltransferase", "omim_gene": [ "616359" ], "alias_name": [ "2-methoxy-6-polyprenyl-1,4-benzoquinol methylase" ], "gene_symbol": "COQ5", "hgnc_symbol": "COQ5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:120941077-120972237", "ensembl_id": "ENSG00000110871" } }, "GRch38": { "90": { "location": "12:120503274-120534434", "ensembl_id": "ENSG00000110871" } } }, "hgnc_date_symbol_changed": "2006-01-13" }, "entity_type": "gene", "entity_name": "COQ5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29044765", "37599337", "21937992", "41199775", "36266294" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 9 MIM#619028" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "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": [ "HSD3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20423", "gene_name": "spermatogenesis associated 7", "omim_gene": [ "609868" ], "alias_name": null, "gene_symbol": "SPATA7", "hgnc_symbol": "SPATA7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:88851268-88936694", "ensembl_id": "ENSG00000042317" } }, "GRch38": { "90": { "location": "14:88384924-88470350", "ensembl_id": "ENSG00000042317" } } }, "hgnc_date_symbol_changed": "2003-03-07" }, "entity_type": "gene", "entity_name": "SPATA7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31908400", "32799588" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Leber Congenital Amaurosis", "Retinitis pigmentosa, juvenile, autosomal recessive, 604232", "Leber congenital amaurosis 3" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.245", "version_created": "2026-03-28T13:33:23.781842+11:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "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": [ "HSA9947", "CLN12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30213", "gene_name": "ATPase 13A2", "omim_gene": [ "610513" ], "alias_name": null, "gene_symbol": "ATP13A2", "hgnc_symbol": "ATP13A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:17312453-17338423", "ensembl_id": "ENSG00000159363" } }, "GRch38": { "90": { "location": "1:16985958-17011928", "ensembl_id": "ENSG00000159363" } } }, "hgnc_date_symbol_changed": "2005-01-12" }, "entity_type": "gene", "entity_name": "ATP13A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21094623", "20853184", "20310007" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Kufor-Rakeb syndrome MIM#606693" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.344", "version_created": "2026-04-06T11:07:45.734922+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CX47", "CX46.6", "SPG44" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17494", "gene_name": "gap junction protein gamma 2", "omim_gene": [ "608803" ], "alias_name": [ "connexin 47" ], "gene_symbol": "GJC2", "hgnc_symbol": "GJC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:228337553-228347527", "ensembl_id": "ENSG00000198835" } }, "GRch38": { "90": { "location": "1:228149852-228159826", "ensembl_id": "ENSG00000198835" } } }, "hgnc_date_symbol_changed": "2007-11-06" }, "entity_type": "gene", "entity_name": "GJC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22669416", "24374284", "15192806" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 2, MIM#\t608804" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PTS1R" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9719", "gene_name": "peroxisomal biogenesis factor 5", "omim_gene": [ "600414" ], "alias_name": [ "peroxisomal targeting signal 1 receptor", "peroxisomal import receptor 5" ], "gene_symbol": "PEX5", "hgnc_symbol": "PEX5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7341281-7371170", "ensembl_id": "ENSG00000139197" } }, "GRch38": { "90": { "location": "12:7188685-7218574", "ensembl_id": "ENSG00000139197" } } }, "hgnc_date_symbol_changed": "2004-03-19" }, "entity_type": "gene", "entity_name": "PEX5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Peroxisome biogenesis disorder 2A (Zellweger), 214110", "Peroxisome biogenesis disorder 2B, 202370" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "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": [ "Hs.6719", "BCS", "h-BCS", "BJS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1020", "gene_name": "BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone", "omim_gene": [ "603647" ], "alias_name": [ "GRACILE syndrome", "Bjornstad syndrome" ], "gene_symbol": "BCS1L", "hgnc_symbol": "BCS1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:219523487-219528166", "ensembl_id": "ENSG00000074582" } }, "GRch38": { "90": { "location": "2:218658764-218663443", "ensembl_id": "ENSG00000074582" } } }, "hgnc_date_symbol_changed": "1998-07-03" }, "entity_type": "gene", "entity_name": "BCS1L", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Mitochondrial complex III disorders", "Mitochondrial Leukoencephalopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "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": [ "BETA-4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:572", "gene_name": "adaptor related protein complex 4 beta 1 subunit", "omim_gene": [ "607245" ], "alias_name": [ "beta 4 subunit of AP-4", "AP-4 complex subunit beta-1" ], "gene_symbol": "AP4B1", "hgnc_symbol": "AP4B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:114437370-114447823", "ensembl_id": "ENSG00000134262" } }, "GRch38": { "90": { "location": "1:113894748-113905201", "ensembl_id": "ENSG00000134262" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "AP4B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21620353", "22290197", "24700674", "24781758", "32979048", "32171285", "32166732", "31525725", "31525725" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Spastic paraplegia 47, autosomal recessive, 614066" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC19604" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30546", "gene_name": "ferredoxin 2", "omim_gene": [ "614585" ], "alias_name": null, "gene_symbol": "FDX2", "hgnc_symbol": "FDX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:10416103-10426691", "ensembl_id": "ENSG00000267673" } }, "GRch38": { "90": { "location": "19:10310045-10316015", "ensembl_id": "ENSG00000267673" } } }, "hgnc_date_symbol_changed": "2016-05-27" }, "entity_type": "gene", "entity_name": "FDX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24281368", "30010796", "28803783" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship" ], "phenotypes": [ "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3084, "hash_id": null, "name": "Rhabdomyolysis and Metabolic Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.46", "version_created": "2026-03-31T19:05:14.301918+11:00", "relevant_disorders": [ "Rhabdomyolysis", "HP:0003201;Exercise intolerance", "HP:0003546;Metabolic myopathy", "MONDO:0020123" ], "stats": { "number_of_genes": 124, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "LPAAT-beta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:325", "gene_name": "1-acylglycerol-3-phosphate O-acyltransferase 2", "omim_gene": [ "603100" ], "alias_name": [ "lysophosphatidic acid acyltransferase, beta" ], "gene_symbol": "AGPAT2", "hgnc_symbol": "AGPAT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139567595-139581875", "ensembl_id": "ENSG00000169692" } }, "GRch38": { "90": { "location": "9:136673143-136687423", "ensembl_id": "ENSG00000169692" } } }, "hgnc_date_symbol_changed": "1999-12-07" }, "entity_type": "gene", "entity_name": "AGPAT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33651552", "30296183", "35857714", "21847459" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "congenital generalized lipodystrophy type 1 MONDO:0012071" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3093, "hash_id": null, "name": "Monogenic Diabetes", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).", "status": "public", "version": "0.224", "version_created": "2026-04-06T18:03:06.439122+10:00", "relevant_disorders": [ "Diabetes mellitus", "HP:0000819" ], "stats": { "number_of_genes": 109, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LH3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9083", "gene_name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 3", "omim_gene": [ "603066" ], "alias_name": [ "lysyl hydroxlase 3" ], "gene_symbol": "PLOD3", "hgnc_symbol": "PLOD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:100849258-100861701", "ensembl_id": "ENSG00000106397" } }, "GRch38": { "90": { "location": "7:101205977-101218420", "ensembl_id": "ENSG00000106397" } } }, "hgnc_date_symbol_changed": "1998-09-25" }, "entity_type": "gene", "entity_name": "PLOD3", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "18834968", "30237576", "30463024", "31129566" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lysyl hydroxylase 3 deficiency, MIM#612394", "Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3114, "hash_id": null, "name": "Stickler Syndrome", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This is a consensus panel between VCGS and RMH.\r\n\r\nThis panel contains genes associated with Stickler syndrome, a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis.\r\n\r\nThe features of Stickler syndrome can be highly variable. Consider applying the Vitreoretinopathy, Deafness, Skeletal Dysplasia and Pierre Robin sequence panels if features are not entirely typical.", "status": "public", "version": "1.12", "version_created": "2025-10-24T18:06:37.494562+11:00", "relevant_disorders": [ "Myopia", "HP:0000545; Retinal detachment", "HP:0000541; Cleft palate", "HP:0000175" ], "stats": { "number_of_genes": 10, "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": [ "dj747L4.1", "TPIT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11596", "gene_name": "T-box 19", "omim_gene": [ "604614" ], "alias_name": [ "TBS 19" ], "gene_symbol": "TBX19", "hgnc_symbol": "TBX19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:168250278-168283664", "ensembl_id": "ENSG00000143178" } }, "GRch38": { "90": { "location": "1:168281040-168314426", "ensembl_id": "ENSG00000143178" } } }, "hgnc_date_symbol_changed": "1999-02-01" }, "entity_type": "gene", "entity_name": "TBX19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Adrenocorticotropic hormone deficiency, 201400 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10914", "gene_name": "solute carrier family 12 member 6", "omim_gene": [ "604878" ], "alias_name": null, "gene_symbol": "SLC12A6", "hgnc_symbol": "SLC12A6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:34525460-34630261", "ensembl_id": "ENSG00000140199" } }, "GRch38": { "90": { "location": "15:34229996-34338060", "ensembl_id": "ENSG00000140199" } } }, "hgnc_date_symbol_changed": "1999-05-25" }, "entity_type": "gene", "entity_name": "SLC12A6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JNCL", "BTN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2074", "gene_name": "CLN3, battenin", "omim_gene": [ "607042" ], "alias_name": [ "juvenile neuronal ceroid lipofuscinosis" ], "gene_symbol": "CLN3", "hgnc_symbol": "CLN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:28477983-28506896", "ensembl_id": "ENSG00000188603" } }, "GRch38": { "90": { "location": "16:28474111-28495575", "ensembl_id": "ENSG00000188603" } } }, "hgnc_date_symbol_changed": "1989-06-06" }, "entity_type": "gene", "entity_name": "CLN3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 3, 204200 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KLHL6", "SBBI26", "RP42" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15646", "gene_name": "kelch like family member 7", "omim_gene": [ "611119" ], "alias_name": [ "retinitis pigmentosa 42" ], "gene_symbol": "KLHL7", "hgnc_symbol": "KLHL7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:23145353-23217533", "ensembl_id": "ENSG00000122550" } }, "GRch38": { "90": { "location": "7:23105758-23177914", "ensembl_id": "ENSG00000122550" } } }, "hgnc_date_symbol_changed": "2002-05-21" }, "entity_type": "gene", "entity_name": "KLHL7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "PERCHING syndrome, 617055 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "WNT-12", "SHFM6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12775", "gene_name": "Wnt family member 10B", "omim_gene": [ "601906" ], "alias_name": null, "gene_symbol": "WNT10B", "hgnc_symbol": "WNT10B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49359123-49365546", "ensembl_id": "ENSG00000169884" } }, "GRch38": { "90": { "location": "12:48965340-48971763", "ensembl_id": "ENSG00000169884" } } }, "hgnc_date_symbol_changed": "1997-09-05" }, "entity_type": "gene", "entity_name": "WNT10B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Split-hand/foot malformation 6, 225300 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ14466", "CRACM1" ], "biotype": null, "hgnc_id": "HGNC:25896", "gene_name": "ORAI calcium release-activated calcium modulator 1", "omim_gene": [ "610277" ], "alias_name": [ "calcium release-activated calcium modulator 1" ], "gene_symbol": "ORAI1", "hgnc_symbol": "ORAI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:122064455-122080583", "ensembl_id": "ENSG00000182500" } }, "GRch38": { "90": { "location": "12:121626550-121642677", "ensembl_id": "ENSG00000276045" } } }, "hgnc_date_symbol_changed": "2007-08-14" }, "entity_type": "gene", "entity_name": "ORAI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency 9, 612782 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FGF-13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3673", "gene_name": "fibroblast growth factor 17", "omim_gene": [ "603725" ], "alias_name": null, "gene_symbol": "FGF17", "hgnc_symbol": "FGF17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:21899909-21906320", "ensembl_id": "ENSG00000158815" } }, "GRch38": { "90": { "location": "8:22042398-22048809", "ensembl_id": "ENSG00000158815" } } }, "hgnc_date_symbol_changed": "1998-12-22" }, "entity_type": "gene", "entity_name": "FGF17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23643382", "31748124" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Hb-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6460", "gene_name": "keratin 83", "omim_gene": [ "602765" ], "alias_name": [ "hard keratin type II" ], "gene_symbol": "KRT83", "hgnc_symbol": "KRT83", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52708085-52715182", "ensembl_id": "ENSG00000170523" } }, "GRch38": { "90": { "location": "12:52314301-52321398", "ensembl_id": "ENSG00000170523" } } }, "hgnc_date_symbol_changed": "2006-07-17" }, "entity_type": "gene", "entity_name": "KRT83", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31332722", "15744029", "25557232" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Monilethrix, MIM#621170" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3269, "hash_id": null, "name": "Hair disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.84", "version_created": "2026-03-30T12:08:41.487037+11:00", "relevant_disorders": [ "Abnormal hair morphology", "HP:0001595" ], "stats": { "number_of_genes": 60, "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": [ "HSPC125", "bA22L21.1", "My013", "HRPAP20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21034", "gene_name": "NADH:ubiquinone oxidoreductase complex assembly factor 4", "omim_gene": [ "611776" ], "alias_name": null, "gene_symbol": "NDUFAF4", "hgnc_symbol": "NDUFAF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:97337189-97345757", "ensembl_id": "ENSG00000123545" } }, "GRch38": { "90": { "location": "6:96889313-96897881", "ensembl_id": "ENSG00000123545" } } }, "hgnc_date_symbol_changed": "2009-03-18" }, "entity_type": "gene", "entity_name": "NDUFAF4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32949790", "28853723", "18179882" ], "evidence": [ "Expert Review Amber", "MetBioNet", "NHS GMS" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 15, 618237" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MTBT1", "tau", "PPND", "FTDP-17", "TAU", "MSTD", "MTBT2", "FLJ31424", "MGC138549", "PPP1R103" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6893", "gene_name": "microtubule associated protein tau", "omim_gene": [ "157140" ], "alias_name": [ "G protein beta1/gamma2 subunit-interacting factor 1", "microtubule-associated protein tau, isoform 4", "protein phosphatase 1, regulatory subunit 103" ], "gene_symbol": "MAPT", "hgnc_symbol": "MAPT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:43971748-44105700", "ensembl_id": "ENSG00000186868" } }, "GRch38": { "90": { "location": "17:45894382-46028334", "ensembl_id": "ENSG00000186868" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MAPT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Dementia, frontotemporal, with or without parkinsonism" ], "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": [ "P138-TOX", "P138(TOX)", "THOX2", "LNOX2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13273", "gene_name": "dual oxidase 2", "omim_gene": [ "606759" ], "alias_name": [ "dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2" ], "gene_symbol": "DUOX2", "hgnc_symbol": "DUOX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:45384848-45406542", "ensembl_id": "ENSG00000140279" } }, "GRch38": { "90": { "location": "15:45092650-45114344", "ensembl_id": "ENSG00000140279" } } }, "hgnc_date_symbol_changed": "2000-11-09" }, "entity_type": "gene", "entity_name": "DUOX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Thyroid dyshormonogenesis" ], "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": [ "T1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10990", "gene_name": "solute carrier family 25 member 4", "omim_gene": [ "103220" ], "alias_name": null, "gene_symbol": "SLC25A4", "hgnc_symbol": "SLC25A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:186064395-186071536", "ensembl_id": "ENSG00000151729" } }, "GRch38": { "90": { "location": "4:185143241-185150382", "ensembl_id": "ENSG00000151729" } } }, "hgnc_date_symbol_changed": "1989-05-19" }, "entity_type": "gene", "entity_name": "SLC25A4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Progressive external ophthalmoplegia" ], "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": [ "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": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Phenylketonuria" ], "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": [ "FAA", "FA-H", "FAH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3582", "gene_name": "Fanconi anemia complementation group A", "omim_gene": [ "607139" ], "alias_name": null, "gene_symbol": "FANCA", "hgnc_symbol": "FANCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:89803957-89883065", "ensembl_id": "ENSG00000187741" } }, "GRch38": { "90": { "location": "16:89737549-89816657", "ensembl_id": "ENSG00000187741" } } }, "hgnc_date_symbol_changed": "1995-12-22" }, "entity_type": "gene", "entity_name": "FANCA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Fanconi anaemia" ], "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": [ "CED", "TGFbeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11766", "gene_name": "transforming growth factor beta 1", "omim_gene": [ "190180" ], "alias_name": [ "Camurati-Engelmann disease", "prepro-transforming growth factor beta-1" ], "gene_symbol": "TGFB1", "hgnc_symbol": "TGFB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:41807492-41859816", "ensembl_id": "ENSG00000105329" } }, "GRch38": { "90": { "location": "19:41301587-41353911", "ensembl_id": "ENSG00000105329" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TGFB1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Camurati-Engelmann disease" ], "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:87", "gene_name": "acyl-CoA dehydrogenase family member 8", "omim_gene": [ "604773" ], "alias_name": null, "gene_symbol": "ACAD8", "hgnc_symbol": "ACAD8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:134123389-134135749", "ensembl_id": "ENSG00000151498" } }, "GRch38": { "90": { "location": "11:134253495-134265855", "ensembl_id": "ENSG00000151498" } } }, "hgnc_date_symbol_changed": "2000-01-07" }, "entity_type": "gene", "entity_name": "ACAD8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Isobutyryl-CoA dehydrogenase 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": [ "EKLF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6345", "gene_name": "Kruppel like factor 1", "omim_gene": [ "600599" ], "alias_name": [ "erythroid Kruppel-like factor" ], "gene_symbol": "KLF1", "hgnc_symbol": "KLF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:12995237-12997995", "ensembl_id": "ENSG00000105610" } }, "GRch38": { "90": { "location": "19:12884423-12887181", "ensembl_id": "ENSG00000105610" } } }, "hgnc_date_symbol_changed": "1999-12-14" }, "entity_type": "gene", "entity_name": "KLF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21055716", "33339573", "32815883", "32221653", "32032242", "31818881", "24443441", "25724378", "28361594", "34554218" ], "evidence": [ "Expert Review Green", "Yorkshire and North East GLH", "NHS GMS", "Wessex and West Midlands GLH", "North West GLH", "London South GLH", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dyserythropoietic anaemia, congenital, type IV, MIM# 613673", "MONDO:0013355", "Anaemia, congenital dyserythropoietic, type IVb, MIM#620969" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3366, "hash_id": null, "name": "Red cell disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.", "status": "public", "version": "1.52", "version_created": "2026-03-28T15:18:36.006857+11:00", "relevant_disorders": [ "Abnormal erythrocyte morphology", "HP:0001877" ], "stats": { "number_of_genes": 116, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SA-2", "SCC3B", "SA2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11355", "gene_name": "stromal antigen 2", "omim_gene": [ "300826" ], "alias_name": null, "gene_symbol": "STAG2", "hgnc_symbol": "STAG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:123094062-123556514", "ensembl_id": "ENSG00000101972" } }, "GRch38": { "90": { "location": "X:123960212-124422664", "ensembl_id": "ENSG00000101972" } } }, "hgnc_date_symbol_changed": "1999-04-29" }, "entity_type": "gene", "entity_name": "STAG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28296084", "29263825", "30158690", "31334757", "33014403", "37010288" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Mullegama-Klein-Martinez syndrome, MIM#301022" ], "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": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ21816", "FANCN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26144", "gene_name": "partner and localizer of BRCA2", "omim_gene": [ "610355" ], "alias_name": [ "Fanconi anemia, complementation group N" ], "gene_symbol": "PALB2", "hgnc_symbol": "PALB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23614488-23652631", "ensembl_id": "ENSG00000083093" } }, "GRch38": { "90": { "location": "16:23603160-23641310", "ensembl_id": "ENSG00000083093" } } }, "hgnc_date_symbol_changed": "2007-01-15" }, "entity_type": "gene", "entity_name": "PALB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fanconi anaemia, complementation group N, MIM# 610832" ], "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": 2206, "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": [ "FREAC8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3808", "gene_name": "forkhead box E3", "omim_gene": [ "601094" ], "alias_name": null, "gene_symbol": "FOXE3", "hgnc_symbol": "FOXE3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:47881744-47883723", "ensembl_id": "ENSG00000186790" } }, "GRch38": { "90": { "location": "1:47416072-47418052", "ensembl_id": "ENSG00000186790" } } }, "hgnc_date_symbol_changed": "1995-06-05" }, "entity_type": "gene", "entity_name": "FOXE3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27218149", "21150893", "31884615", "29878917", "29713869" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256", "Cataract 34, multiple types, OMIM:612968" ], "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": 2206, "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": [ "SLSN4", "KIAA0673", "POC10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19104", "gene_name": "nephrocystin 4", "omim_gene": [ "607215" ], "alias_name": [ "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" ], "gene_symbol": "NPHP4", "hgnc_symbol": "NPHP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:5922871-6052533", "ensembl_id": "ENSG00000131697" } }, "GRch38": { "90": { "location": "1:5862811-5992473", "ensembl_id": "ENSG00000131697" } } }, "hgnc_date_symbol_changed": "2002-10-03" }, "entity_type": "gene", "entity_name": "NPHP4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12244321", "12205563", "34013113", "22550138" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert Review", "KidGen_CilioNephronop v38.1.0" ], "phenotypes": [ "Nephronophthisis 4, MIM# 606966", "Senior-Loken syndrome 4, MIM# 606996" ], "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": 2206, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9059", "gene_name": "phospholipase C beta 4", "omim_gene": [ "600810" ], "alias_name": null, "gene_symbol": "PLCB4", "hgnc_symbol": "PLCB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:9049410-9461889", "ensembl_id": "ENSG00000101333" } }, "GRch38": { "90": { "location": "20:9068763-9481242", "ensembl_id": "ENSG00000101333" } } }, "hgnc_date_symbol_changed": "1995-04-13" }, "entity_type": "gene", "entity_name": "PLCB4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22560091", "23315542", "33131036", "32201334", "28328130", "27007857", "23913798" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Auriculocondylar syndrome 2A, MIM# 614669", "Auriculocondylar syndrome 2B, MIM# 620458" ], "mode_of_inheritance": "BOTH monoallelic and 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": 2206, "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": [ "LDLCQ2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6547", "gene_name": "low density lipoprotein receptor", "omim_gene": [ "606945" ], "alias_name": [ "familial hypercholesterolemia" ], "gene_symbol": "LDLR", "hgnc_symbol": "LDLR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:11200038-11244492", "ensembl_id": "ENSG00000130164" } }, "GRch38": { "90": { "location": "19:11089362-11133816", "ensembl_id": "ENSG00000130164" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "LDLR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "LDL cholesterol level QTL2/Hypercholesterolemia, familial" ], "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": [ "STL2", "CO11A1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2186", "gene_name": "collagen type XI alpha 1 chain", "omim_gene": [ "120280" ], "alias_name": [ "collagen XI, alpha-1 polypeptide" ], "gene_symbol": "COL11A1", "hgnc_symbol": "COL11A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:103342023-103574052", "ensembl_id": "ENSG00000060718" } }, "GRch38": { "90": { "location": "1:102876467-103108496", "ensembl_id": "ENSG00000060718" } } }, "hgnc_date_symbol_changed": "1989-05-08" }, "entity_type": "gene", "entity_name": "COL11A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21035103", "32427345" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Fibrochondrogenesis 1, 228520 (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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1739", "gene_name": "cell division cycle 45", "omim_gene": [ "603465" ], "alias_name": [ "human CDC45" ], "gene_symbol": "CDC45", "hgnc_symbol": "CDC45", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:19466982-19508135", "ensembl_id": "ENSG00000093009" } }, "GRch38": { "90": { "location": "22:19479459-19520612", "ensembl_id": "ENSG00000093009" } } }, "hgnc_date_symbol_changed": "2010-03-24" }, "entity_type": "gene", "entity_name": "CDC45", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31474763", "27374770", "30986546", "33639314", "34000999", "11416137", "21358631" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Meier-Gorlin syndrome 7, 617063" ], "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": [ "RDRTA2", "VPP2", "RTADR", "a4", "Vph1", "Stv1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:866", "gene_name": "ATPase H+ transporting V0 subunit a4", "omim_gene": [ "605239" ], "alias_name": null, "gene_symbol": "ATP6V0A4", "hgnc_symbol": "ATP6V0A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:138391040-138484305", "ensembl_id": "ENSG00000105929" } }, "GRch38": { "90": { "location": "7:138706295-138799560", "ensembl_id": "ENSG00000105929" } } }, "hgnc_date_symbol_changed": "2002-05-10" }, "entity_type": "gene", "entity_name": "ATP6V0A4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22872862", "12414817", "29311258" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722" ], "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": [ "HCP1", "MGC9564", "PCFT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30521", "gene_name": "solute carrier family 46 member 1", "omim_gene": [ "611672" ], "alias_name": [ "heme carrier protein 1", "proton-coupled folate transporter" ], "gene_symbol": "SLC46A1", "hgnc_symbol": "SLC46A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:26721661-26734215", "ensembl_id": "ENSG00000076351" } }, "GRch38": { "90": { "location": "17:28394756-28407197", "ensembl_id": "ENSG00000076351" } } }, "hgnc_date_symbol_changed": "2007-03-29" }, "entity_type": "gene", "entity_name": "SLC46A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301716" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Folate malabsorption, hereditary, 229050 (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": [ "HSP47", "colligen" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1546", "gene_name": "serpin family H member 1", "omim_gene": [ "600943" ], "alias_name": [ "collagen binding protein 1" ], "gene_symbol": "SERPINH1", "hgnc_symbol": "SERPINH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:75273101-75283828", "ensembl_id": "ENSG00000149257" } }, "GRch38": { "90": { "location": "11:75562056-75572783", "ensembl_id": "ENSG00000149257" } } }, "hgnc_date_symbol_changed": "1994-01-10" }, "entity_type": "gene", "entity_name": "SERPINH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20188343", "25510505", "31179625", "29520608", "33524049" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Osteogenesis imperfecta, type X, MIM# 613848", "Osteogenesis imperfecta type 10, MONDO:0013459" ], "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": [ "TBE-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7166", "gene_name": "matrix metallopeptidase 2", "omim_gene": [ "120360" ], "alias_name": null, "gene_symbol": "MMP2", "hgnc_symbol": "MMP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:55423612-55540603", "ensembl_id": "ENSG00000087245" } }, "GRch38": { "90": { "location": "16:55389700-55506691", "ensembl_id": "ENSG00000087245" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "MMP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11431697", "15691365", "17059372", "17400654" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Multicentric osteolysis, nodulosis, and arthropathy, MIM#259600" ], "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": [ "FUCT1", "FLJ11320" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20197", "gene_name": "solute carrier family 35 member C1", "omim_gene": [ "605881" ], "alias_name": null, "gene_symbol": "SLC35C1", "hgnc_symbol": "SLC35C1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:45825623-45834566", "ensembl_id": "ENSG00000181830" } }, "GRch38": { "90": { "location": "11:45804072-45813015", "ensembl_id": "ENSG00000181830" } } }, "hgnc_date_symbol_changed": "2003-10-08" }, "entity_type": "gene", "entity_name": "SLC35C1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29702557" ], "evidence": [ "Expert Review Amber", "BabySeq Category C gene" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "for review", "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": [ "LAL", "CESD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6617", "gene_name": "lipase A, lysosomal acid type", "omim_gene": [ "613497" ], "alias_name": [ "Wolman disease", "lysosomal acid lipase", "sterol esterase" ], "gene_symbol": "LIPA", "hgnc_symbol": "LIPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:90973326-91174314", "ensembl_id": "ENSG00000107798" } }, "GRch38": { "90": { "location": "10:89213569-89414557", "ensembl_id": "ENSG00000107798" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "LIPA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Wolman syndrome, MIM#278000" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "metabolic" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ETFQO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3483", "gene_name": "electron transfer flavoprotein dehydrogenase", "omim_gene": [ "231675" ], "alias_name": null, "gene_symbol": "ETFDH", "hgnc_symbol": "ETFDH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:159593277-159630775", "ensembl_id": "ENSG00000171503" } }, "GRch38": { "90": { "location": "4:158672125-158709623", "ensembl_id": "ENSG00000171503" } } }, "hgnc_date_symbol_changed": "1993-12-13" }, "entity_type": "gene", "entity_name": "ETFDH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31904027" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Glutaric acidemia IIC, MIM# 231680" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11581", "gene_name": "tubulin folding cofactor D", "omim_gene": [ "604649" ], "alias_name": null, "gene_symbol": "TBCD", "hgnc_symbol": "TBCD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:80709940-80900724", "ensembl_id": "ENSG00000141556" } }, "GRch38": { "90": { "location": "17:82752064-82945922", "ensembl_id": "ENSG00000141556" } } }, "hgnc_date_symbol_changed": "1998-07-31" }, "entity_type": "gene", "entity_name": "TBCD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27666374", "27666370", "27807845", "31569255" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193" ], "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": [ "ILWEQ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11845", "gene_name": "talin 1", "omim_gene": [ "186745" ], "alias_name": null, "gene_symbol": "TLN1", "hgnc_symbol": "TLN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:35696945-35732392", "ensembl_id": "ENSG00000137076" } }, "GRch38": { "90": { "location": "9:35696948-35732395", "ensembl_id": "ENSG00000137076" } } }, "hgnc_date_symbol_changed": "1996-10-31" }, "entity_type": "gene", "entity_name": "TLN1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30888838", "36103205" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "idiopathic spontaneous coronary artery dissection MONDO:0007385" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4323, "hash_id": null, "name": "Spontaneous coronary artery dissection", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "Spontaneous coronary artery (SCA) dissection is a rare cause of myocardial infarction, particularly in younger individuals. While the aetiology is likely to be polygenic in the majority of individuals, SCA dissection may also be indicative of an underlying systemic arteriopathy. This panel contains genes that have been reported in association with this clinical presentation.\r\n\r\nConsider also using the Aortopathy_Connective Tissue Disorders panel in conjunction.\r\n\r\nThis panel was developed in collaboration with Cardiovascular Genomics at the Victorian Heart Hospital and the Clinical Genetics & Genomics Service at Alfred Health.", "status": "public", "version": "0.58", "version_created": "2026-04-06T11:41:58.138051+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "YY1AP", "HCCA2", "YAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30935", "gene_name": "YY1 associated protein 1", "omim_gene": [ "607860" ], "alias_name": null, "gene_symbol": "YY1AP1", "hgnc_symbol": "YY1AP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155629237-155658791", "ensembl_id": "ENSG00000163374" } }, "GRch38": { "90": { "location": "1:155659443-155689000", "ensembl_id": "ENSG00000163374" } } }, "hgnc_date_symbol_changed": "2005-02-09" }, "entity_type": "gene", "entity_name": "YY1AP1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33125268" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Grange syndrome, MIM# 602531" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4323, "hash_id": null, "name": "Spontaneous coronary artery dissection", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "Spontaneous coronary artery (SCA) dissection is a rare cause of myocardial infarction, particularly in younger individuals. While the aetiology is likely to be polygenic in the majority of individuals, SCA dissection may also be indicative of an underlying systemic arteriopathy. This panel contains genes that have been reported in association with this clinical presentation.\r\n\r\nConsider also using the Aortopathy_Connective Tissue Disorders panel in conjunction.\r\n\r\nThis panel was developed in collaboration with Cardiovascular Genomics at the Victorian Heart Hospital and the Clinical Genetics & Genomics Service at Alfred Health.", "status": "public", "version": "0.58", "version_created": "2026-04-06T11:41:58.138051+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DP2", "DP3", "DP2.5", "PPP1R46" ], "biotype": "protein_coding", "hgnc_id": "HGNC:583", "gene_name": "APC, WNT signaling pathway regulator", "omim_gene": [ "611731" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 46" ], "gene_symbol": "APC", "hgnc_symbol": "APC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:112043195-112181936", "ensembl_id": "ENSG00000134982" } }, "GRch38": { "90": { "location": "5:112707498-112846239", "ensembl_id": "ENSG00000134982" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "APC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "APC-related attenuated familial adenomatous polyposis, MONDO:0016613", "Classic familial adenomatous polyposis, MONDO:0021055", "Familial adenomatous polyposis 1, MONDO:0021056", "Adenomatous polyposis coli, MIM#175100" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4371, "hash_id": null, "name": "Colorectal Cancer and Polyposis", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.4", "version_created": "2025-11-20T12:31:46.390137+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "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": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p53", "LFS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11998", "gene_name": "tumor protein p53", "omim_gene": [ "191170" ], "alias_name": [ "Li-Fraumeni syndrome" ], "gene_symbol": "TP53", "hgnc_symbol": "TP53", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7565097-7590856", "ensembl_id": "ENSG00000141510" } }, "GRch38": { "90": { "location": "17:7661779-7687550", "ensembl_id": "ENSG00000141510" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TP53", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Prostate cancer, MONDO:0008315", "Li-Fraumeni syndrome, MONDO:0018875", "Li-Fraumeni syndrome, MIM#151623" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4372, "hash_id": null, "name": "Prostate Cancer", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2024-11-01T16:34:57.086516+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "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": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "dj747L4.1", "TPIT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11596", "gene_name": "T-box 19", "omim_gene": [ "604614" ], "alias_name": [ "TBS 19" ], "gene_symbol": "TBX19", "hgnc_symbol": "TBX19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:168250278-168283664", "ensembl_id": "ENSG00000143178" } }, "GRch38": { "90": { "location": "1:168281040-168314426", "ensembl_id": "ENSG00000143178" } } }, "hgnc_date_symbol_changed": "1999-02-01" }, "entity_type": "gene", "entity_name": "TBX19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15613420, 31998673, 11290323, 15476446, 22170728" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Adrenocorticotropic hormone deficiency, 201400" ], "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": [ "FLJ22215", "VWA-1", "WARP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30910", "gene_name": "von Willebrand factor A domain containing 1", "omim_gene": [ "611901" ], "alias_name": null, "gene_symbol": "VWA1", "hgnc_symbol": "VWA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:1370241-1378262", "ensembl_id": "ENSG00000179403" } }, "GRch38": { "90": { "location": "1:1434861-1442882", "ensembl_id": "ENSG00000179403" } } }, "hgnc_date_symbol_changed": "2005-07-18" }, "entity_type": "str", "entity_name": "VWA1_HMNMYO_GCGCGGAGCG", "confidence_level": "3", "penetrance": null, "publications": [ "33559681", "33459760" ], "evidence": [ "Literature", "Expert Review Green", "Expert Review Green", "Literature" ], "phenotypes": [ "Neuropathy, hereditary motor, with myopathic features\tMIM#619216" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "repeated_sequence": "GCGCGGAGCG", "chromosome": "1", "grch37_coordinates": [ 1371179, 1371198 ], "grch38_coordinates": [ 1435799, 1435818 ], "normal_repeats": 2, "pathogenic_repeats": 3, "tags": [ "paediatric-onset" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] } } ] }