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GET /api/v1/entities/?format=api&page=49
{ "count": 36035, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=50", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=48", "results": [ { "gene_data": { "alias": [ "MGC13379", "HSPC244", "JBTS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25018", "gene_name": "transmembrane protein 216", "omim_gene": [ "613277" ], "alias_name": null, "gene_symbol": "TMEM216", "hgnc_symbol": "TMEM216", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:61159159-61166335", "ensembl_id": "ENSG00000187049" } }, "GRch38": { "90": { "location": "11:61391687-61398863", "ensembl_id": "ENSG00000187049" } } }, "hgnc_date_symbol_changed": "2008-06-10" }, "entity_type": "gene", "entity_name": "TMEM216", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20512146" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Brain Malformations Flagship" ], "phenotypes": [ "Joubert syndrome 2 (MIM#608091)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 18, "hash_id": null, "name": "Polymicrogyria and Schizencephaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.", "status": "public", "version": "0.204", "version_created": "2025-12-18T09:49:46.643708+11:00", "relevant_disorders": [ "Polymicrogyria", "HP:0002126;Schizencephaly", "HP:0010636" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BCD541", "SMNT", "SMA1", "SMA2", "SMA3", "GEMIN1", "TDRD16A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11117", "gene_name": "survival of motor neuron 1, telomeric", "omim_gene": [ "600354" ], "alias_name": [ "gemin-1", "tudor domain containing 16A" ], "gene_symbol": "SMN1", "hgnc_symbol": "SMN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:70220768-70249769", "ensembl_id": "ENSG00000172062" } }, "GRch38": { "90": { "location": "5:70925030-70953942", "ensembl_id": "ENSG00000172062" } } }, "hgnc_date_symbol_changed": "1996-12-12" }, "entity_type": "gene", "entity_name": "SMN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301623" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinal muscular atrophy-1, MIM# 253300" ], "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": [] }, { "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": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services", "Expert Review Green", "Melbourne Genomics Health Alliance Perinatal Autopsy Flagship" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.246", "version_created": "2026-03-02T10:22:48.751874+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Cv2", "CRIM3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24154", "gene_name": "BMP binding endothelial regulator", "omim_gene": [ "608699" ], "alias_name": [ "crossveinless-2" ], "gene_symbol": "BMPER", "hgnc_symbol": "BMPER", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:33944523-34195484", "ensembl_id": "ENSG00000164619" } }, "GRch38": { "90": { "location": "7:33904911-34155872", "ensembl_id": "ENSG00000164619" } } }, "hgnc_date_symbol_changed": "2005-07-25" }, "entity_type": "gene", "entity_name": "BMPER", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20869035", "30006055" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genetic Health Queensland", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Perinatal Autopsy Flagship" ], "phenotypes": [ "Diaphanospondylodysostosis, MIM#608022" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.246", "version_created": "2026-03-02T10:22:48.751874+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DYT18", "DYT9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11005", "gene_name": "solute carrier family 2 member 1", "omim_gene": [ "138140" ], "alias_name": null, "gene_symbol": "SLC2A1", "hgnc_symbol": "SLC2A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:43391052-43424530", "ensembl_id": "ENSG00000117394" } }, "GRch38": { "90": { "location": "1:42925375-42959173", "ensembl_id": "ENSG00000117394" } } }, "hgnc_date_symbol_changed": "1994-11-18" }, "entity_type": "gene", "entity_name": "SLC2A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25440161", "24824604", "20621801" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hemiplegic migraine" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 40, "hash_id": null, "name": "Alternating Hemiplegia and Hemiplegic Migraine", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nPlease also refer to the Episodic Ataxia and Paroxysmal Dyskinesia panels.", "status": "public", "version": "1.0", "version_created": "2026-03-24T16:22:18.980474+11:00", "relevant_disorders": [ "Hemiplegia", "HP:0002301;Migraine", "HP:0002076" ], "stats": { "number_of_genes": 18, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nM15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6814", "gene_name": "MAGE family member L2", "omim_gene": [ "605283" ], "alias_name": null, "gene_symbol": "MAGEL2", "hgnc_symbol": "MAGEL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:23888691-23891175", "ensembl_id": "ENSG00000254585" } }, "GRch38": { "90": { "location": "15:23643544-23647841", "ensembl_id": "ENSG00000254585" } } }, "hgnc_date_symbol_changed": "1999-10-29" }, "entity_type": "gene", "entity_name": "MAGEL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24076603", "27195816", "26365340", "33820833", "34128869" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Schaaf-Yang syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IMAGE:4942737", "DKFZp547D065", "DMP4", "G-CK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22140", "gene_name": "FAM20C, golgi associated secretory pathway kinase", "omim_gene": [ "611061" ], "alias_name": [ "dentin matrix protein 4", "golgi casein kinase" ], "gene_symbol": "FAM20C", "hgnc_symbol": "FAM20C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:192969-300711", "ensembl_id": "ENSG00000177706" } }, "GRch38": { "90": { "location": "7:192969-260745", "ensembl_id": "ENSG00000177706" } } }, "hgnc_date_symbol_changed": "2003-09-03" }, "entity_type": "gene", "entity_name": "FAM20C", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Raine syndrome, MIM# 259775" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6325", "gene_name": "kinesin family member 5C", "omim_gene": [ "604593" ], "alias_name": null, "gene_symbol": "KIF5C", "hgnc_symbol": "KIF5C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:149632819-149883273", "ensembl_id": "ENSG00000168280" } }, "GRch38": { "90": { "location": "2:148875250-149026759", "ensembl_id": "ENSG00000168280" } } }, "hgnc_date_symbol_changed": "1998-08-24" }, "entity_type": "gene", "entity_name": "KIF5C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Cortical dysplasia, complex, with other brain malformations 2, OMIM #615282" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "nM15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6814", "gene_name": "MAGE family member L2", "omim_gene": [ "605283" ], "alias_name": null, "gene_symbol": "MAGEL2", "hgnc_symbol": "MAGEL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:23888691-23891175", "ensembl_id": "ENSG00000254585" } }, "GRch38": { "90": { "location": "15:23643544-23647841", "ensembl_id": "ENSG00000254585" } } }, "hgnc_date_symbol_changed": "1999-10-29" }, "entity_type": "gene", "entity_name": "MAGEL2", "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": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.248", "version_created": "2026-03-19T12:51:18.584438+11:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC40423", "KIAA0981", "PIKfyve", "PIP5K", "p235", "ZFYVE29", "FAB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23785", "gene_name": "phosphoinositide kinase, FYVE-type zinc finger containing", "omim_gene": [ "609414" ], "alias_name": [ "zinc finger, FYVE domain containing 29" ], "gene_symbol": "PIKFYVE", "hgnc_symbol": "PIKFYVE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:209130991-209223475", "ensembl_id": "ENSG00000115020" } }, "GRch38": { "90": { "location": "2:208266267-208358751", "ensembl_id": "ENSG00000115020" } } }, "hgnc_date_symbol_changed": "2009-04-17" }, "entity_type": "gene", "entity_name": "PIKFYVE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15902656", "23288988", "26396486" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Corneal fleck dystrophy, MIM# 121850" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 91, "hash_id": null, "name": "Corneal Dystrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe corneal dystrophies are a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea, causing opacification. The corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities: (a). the anterior corneal dystrophies affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma, (b).the stromal corneal dystrophies affect the corneal stroma, (c). the posterior corneal dystrophies affect the Descemet membrane and the corneal endothelium. \r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Corneal Dystrophy' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.", "status": "public", "version": "1.21", "version_created": "2026-02-22T15:53:37.257206+11:00", "relevant_disorders": [ "Abnormal corneal morphology", "HP:0000481" ], "stats": { "number_of_genes": 33, "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": [ "PEX", "HPDR1", "HYP1", "XLH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8918", "gene_name": "phosphate regulating endopeptidase homolog X-linked", "omim_gene": [ "300550" ], "alias_name": null, "gene_symbol": "PHEX", "hgnc_symbol": "PHEX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:22050559-22269427", "ensembl_id": "ENSG00000102174" } }, "GRch38": { "90": { "location": "X:22032441-22251310", "ensembl_id": "ENSG00000102174" } } }, "hgnc_date_symbol_changed": "1986-01-06" }, "entity_type": "gene", "entity_name": "PHEX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19242361", "17551721" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hypophosphatemic rickets, X-linked dominant, MIM#\t307800" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 93, "hash_id": null, "name": "Craniosynostosis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.", "status": "public", "version": "1.85", "version_created": "2026-04-07T13:46:55.940488+10:00", "relevant_disorders": [ "Craniosynostosis HP:0001363" ], "stats": { "number_of_genes": 105, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DD5", "HYD", "EDD", "KIAA0896" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16806", "gene_name": "ubiquitin protein ligase E3 component n-recognin 5", "omim_gene": [ "608413" ], "alias_name": null, "gene_symbol": "UBR5", "hgnc_symbol": "UBR5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:103265240-103425069", "ensembl_id": "ENSG00000104517" } }, "GRch38": { "90": { "location": "8:102253012-102412841", "ensembl_id": "ENSG00000104517" } } }, "hgnc_date_symbol_changed": "2007-06-19" }, "entity_type": "gene", "entity_name": "UBR5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39721588" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with speech delay and behavioral abnormalities, MIM# 621372" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.47", "version_created": "2026-04-06T10:50:25.990411+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 141, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "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": [ "KPPS2", "PPKS2", "DPI", "DPII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3052", "gene_name": "desmoplakin", "omim_gene": [ "125647" ], "alias_name": null, "gene_symbol": "DSP", "hgnc_symbol": "DSP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:7541808-7586950", "ensembl_id": "ENSG00000096696" } }, "GRch38": { "90": { "location": "6:7541575-7586717", "ensembl_id": "ENSG00000096696" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "DSP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16175511", "20302578", "20302578", "28442525", "20613772", "20302578" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa, lethal acantholytic, MIM# 609638" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MDA-5", "Hlcd", "MDA5", "IDDM19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18873", "gene_name": "interferon induced with helicase C domain 1", "omim_gene": [ "606951" ], "alias_name": [ "helicard", "melanoma differentiation-associated gene 5" ], "gene_symbol": "IFIH1", "hgnc_symbol": "IFIH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:163123589-163175213", "ensembl_id": "ENSG00000115267" } }, "GRch38": { "90": { "location": "2:162267079-162318703", "ensembl_id": "ENSG00000115267" } } }, "hgnc_date_symbol_changed": "2004-06-25" }, "entity_type": "gene", "entity_name": "IFIH1", "confidence_level": "3", "penetrance": "Incomplete", "mode_of_pathogenicity": null, "publications": [ "34185153" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Inflammatory Bowel Disease" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 123, "hash_id": null, "name": "Inflammatory bowel disease", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.126", "version_created": "2025-10-16T15:50:33.114198+11:00", "relevant_disorders": [ "Gastrointestinal inflammation", "HP:0004386" ], "stats": { "number_of_genes": 85, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "K10", "CK10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6413", "gene_name": "keratin 10", "omim_gene": [ "148080" ], "alias_name": [ "cytokeratin 10", "epidermolytic hyperkeratosis" ], "gene_symbol": "KRT10", "hgnc_symbol": "KRT10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:38974369-38978847", "ensembl_id": "ENSG00000186395" } }, "GRch38": { "90": { "location": "17:40818117-40822595", "ensembl_id": "ENSG00000186395" } } }, "hgnc_date_symbol_changed": "1988-08-12" }, "entity_type": "gene", "entity_name": "KRT10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602", "Ichthyosis with confetti, MIM# 609165" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 124, "hash_id": null, "name": "Ichthyosis and Porokeratosis", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.", "status": "public", "version": "1.25", "version_created": "2026-03-19T12:26:58.874178+11:00", "relevant_disorders": [ "Ichthyosis", "HP:0008064;Porokeratosis", "HP:0200044" ], "stats": { "number_of_genes": 65, "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": "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": [ "CD230", "PRP", "AltPrP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9449", "gene_name": "prion protein", "omim_gene": [ "176640" ], "alias_name": [ "Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30" ], "gene_symbol": "PRNP", "hgnc_symbol": "PRNP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:4666882-4682236", "ensembl_id": "ENSG00000171867" } }, "GRch38": { "90": { "location": "20:4686236-4701590", "ensembl_id": "ENSG00000171867" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PRNP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27910931", "19571725, 20301407", "6351815" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Prion Disease (MIM#176640)", "Creutzfeldt-Jakob disease (MIM#123400)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "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": [ "MLCK", "smMLCK", "MYLK1", "MLCK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7590", "gene_name": "myosin light chain kinase", "omim_gene": [ "600922" ], "alias_name": [ "smooth muscle myosin light chain kinase" ], "gene_symbol": "MYLK", "hgnc_symbol": "MYLK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:123328896-123603178", "ensembl_id": "ENSG00000065534" } }, "GRch38": { "90": { "location": "3:123610049-123884331", "ensembl_id": "ENSG00000065534" } } }, "hgnc_date_symbol_changed": "1995-07-14" }, "entity_type": "gene", "entity_name": "MYLK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28602422", "30071989", "27586135", "21055718", "25907466" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Aortic aneurysm, familial thoracic 7, MIM#613780", "Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#249210" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, 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": [ "MMAC1", "TEP1", "PTEN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9588", "gene_name": "phosphatase and tensin homolog", "omim_gene": [ "601728" ], "alias_name": [ "mutated in multiple advanced cancers 1" ], "gene_symbol": "PTEN", "hgnc_symbol": "PTEN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:89622870-89731687", "ensembl_id": "ENSG00000171862" } }, "GRch38": { "90": { "location": "10:87863113-87971930", "ensembl_id": "ENSG00000171862" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "PTEN", "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": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OCI-5", "SGBS", "SGBS1", "SGB", "DGSX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4451", "gene_name": "glypican 3", "omim_gene": [ "300037" ], "alias_name": [ "glypican proteoglycan 3" ], "gene_symbol": "GPC3", "hgnc_symbol": "GPC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:132669773-133119922", "ensembl_id": "ENSG00000147257" } }, "GRch38": { "90": { "location": "X:133535745-133985895", "ensembl_id": "ENSG00000147257" } } }, "hgnc_date_symbol_changed": "1996-08-08" }, "entity_type": "gene", "entity_name": "GPC3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CRMP5", "Ulip6", "CRMP-5", "CRAM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20637", "gene_name": "dihydropyrimidinase like 5", "omim_gene": [ "608383" ], "alias_name": null, "gene_symbol": "DPYSL5", "hgnc_symbol": "DPYSL5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:27070615-27173219", "ensembl_id": "ENSG00000157851" } }, "GRch38": { "90": { "location": "2:26847747-26950351", "ensembl_id": "ENSG00000157851" } } }, "hgnc_date_symbol_changed": "2003-03-12" }, "entity_type": "gene", "entity_name": "DPYSL5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33894126" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ritscher-Schinzel syndrome 4, MIM# 619435", "Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC2840" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23161", "gene_name": "ALG8, alpha-1,3-glucosyltransferase", "omim_gene": [ "608103" ], "alias_name": [ "dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase" ], "gene_symbol": "ALG8", "hgnc_symbol": "ALG8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:77811982-77850706", "ensembl_id": "ENSG00000159063" } }, "GRch38": { "90": { "location": "11:78100936-78139660", "ensembl_id": "ENSG00000159063" } } }, "hgnc_date_symbol_changed": "2003-10-15" }, "entity_type": "gene", "entity_name": "ALG8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26066342", "28375157", "15235028", "35716054" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ih, MIM# 608104", "Polycystic liver disease 3 with or without kidney cysts, MIM#\t617874" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LGN", "Pins" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29501", "gene_name": "G protein signaling modulator 2", "omim_gene": [ "609245" ], "alias_name": null, "gene_symbol": "GPSM2", "hgnc_symbol": "GPSM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:109417972-109477167", "ensembl_id": "ENSG00000121957" } }, "GRch38": { "90": { "location": "1:108875350-108934545", "ensembl_id": "ENSG00000121957" } } }, "hgnc_date_symbol_changed": "2004-02-03" }, "entity_type": "gene", "entity_name": "GPSM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20602914", "22578326", "28387217", "27180139", "27064331" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Chudley-McCullough syndrome, MIM# 604213" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hnRNPA1", "hnRNP-A1", "ALS20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5031", "gene_name": "heterogeneous nuclear ribonucleoprotein A1", "omim_gene": [ "164017" ], "alias_name": null, "gene_symbol": "HNRNPA1", "hgnc_symbol": "HNRNPA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:54673977-54680872", "ensembl_id": "ENSG00000135486" } }, "GRch38": { "90": { "location": "12:54280193-54287088", "ensembl_id": "ENSG00000135486" } } }, "hgnc_date_symbol_changed": "2007-08-16" }, "entity_type": "gene", "entity_name": "HNRNPA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23455423", "34291734" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis 20 MIM#615426" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32662" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18829", "gene_name": "kelch like family member 10", "omim_gene": [ "608778" ], "alias_name": null, "gene_symbol": "KLHL10", "hgnc_symbol": "KLHL10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39991937-40004636", "ensembl_id": "ENSG00000161594" } }, "GRch38": { "90": { "location": "17:41835685-41848384", "ensembl_id": "ENSG00000161594" } } }, "hgnc_date_symbol_changed": "2002-07-29" }, "entity_type": "gene", "entity_name": "KLHL10", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17047026", "15136734", "31479588" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spermatogenic failure 11, MIM# 615081" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RP1", "EB1", "EB2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6891", "gene_name": "microtubule associated protein RP/EB family member 2", "omim_gene": [ "605789" ], "alias_name": [ "APC-binding protein EB1" ], "gene_symbol": "MAPRE2", "hgnc_symbol": "MAPRE2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:32556892-32723434", "ensembl_id": "ENSG00000166974" } }, "GRch38": { "90": { "location": "18:34976928-35143470", "ensembl_id": "ENSG00000166974" } } }, "hgnc_date_symbol_changed": "1999-12-14" }, "entity_type": "gene", "entity_name": "MAPRE2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26637975" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Symmetric circumferential skin creases, congenital, 2, MIM# 616734" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DUP", "MRP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7326", "gene_name": "mutS homolog 3", "omim_gene": [ "600887" ], "alias_name": [ "Divergent upstream protein", "Mismatch repair protein 1" ], "gene_symbol": "MSH3", "hgnc_symbol": "MSH3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:79950467-80172279", "ensembl_id": "ENSG00000113318" } }, "GRch38": { "90": { "location": "5:80654648-80876460", "ensembl_id": "ENSG00000113318" } } }, "hgnc_date_symbol_changed": "1995-09-28" }, "entity_type": "gene", "entity_name": "MSH3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27476653", "10706084", "34843512" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Familial adenomatous polyposis 4 , MIM#617100" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RBIG1", "FLJ21044", "HGPS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13433", "gene_name": "roundabout guidance receptor 3", "omim_gene": [ "608630" ], "alias_name": null, "gene_symbol": "ROBO3", "hgnc_symbol": "ROBO3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:124735282-124751366", "ensembl_id": "ENSG00000154134" } }, "GRch38": { "90": { "location": "11:124865386-124881470", "ensembl_id": "ENSG00000154134" } } }, "hgnc_date_symbol_changed": "2004-05-10" }, "entity_type": "gene", "entity_name": "ROBO3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15105459", "32373565" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM# 607313)" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1724", "SELI", "SEPI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29361", "gene_name": "selenoprotein I", "omim_gene": [ "607915" ], "alias_name": null, "gene_symbol": "SELENOI", "hgnc_symbol": "SELENOI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:26531415-26618759", "ensembl_id": "ENSG00000138018" } }, "GRch38": { "90": { "location": "2:26308547-26395891", "ensembl_id": "ENSG00000138018" } } }, "hgnc_date_symbol_changed": "2016-09-21" }, "entity_type": "gene", "entity_name": "SELENOI", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28052917", "39806532", "29500230", "33454747" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic paraplegia 81, autosomal recessive, MIM# 618768" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BAP", "ULG5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24624", "gene_name": "SIL1 nucleotide exchange factor", "omim_gene": [ "608005" ], "alias_name": null, "gene_symbol": "SIL1", "hgnc_symbol": "SIL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:138282409-138629246", "ensembl_id": "ENSG00000120725" } }, "GRch38": { "90": { "location": "5:138946720-139293557", "ensembl_id": "ENSG00000120725" } } }, "hgnc_date_symbol_changed": "2005-09-01" }, "entity_type": "gene", "entity_name": "SIL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24176978", "16282977", "20301371" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Marinesco-Sjogren syndrome, MIM#248800", "MONDO#0009567" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NIS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11040", "gene_name": "solute carrier family 5 member 5", "omim_gene": [ "601843" ], "alias_name": null, "gene_symbol": "SLC5A5", "hgnc_symbol": "SLC5A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:17982782-18005983", "ensembl_id": "ENSG00000105641" } }, "GRch38": { "90": { "location": "19:17871973-17895174", "ensembl_id": "ENSG00000105641" } } }, "hgnc_date_symbol_changed": "1997-04-16" }, "entity_type": "gene", "entity_name": "SLC5A5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9745458", "9171822", "33815280", "32319661" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Thyroid dyshormonogenesis 1, MIM# 274400", "MONDO:0020716" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ36445", "Nesprin-4", "Nesp4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26703", "gene_name": "spectrin repeat containing nuclear envelope family member 4", "omim_gene": [ "615535" ], "alias_name": null, "gene_symbol": "SYNE4", "hgnc_symbol": "SYNE4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36494209-36499695", "ensembl_id": "ENSG00000181392" } }, "GRch38": { "90": { "location": "19:36003307-36008793", "ensembl_id": "ENSG00000181392" } } }, "hgnc_date_symbol_changed": "2012-05-31" }, "entity_type": "gene", "entity_name": "SYNE4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23348741", "28958982" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Deafness, autosomal recessive 76, MIM# 615540" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PEO", "PEO1", "TWINKLE", "FLJ21832", "TWINL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1160", "gene_name": "twinkle mtDNA helicase", "omim_gene": [ "606075" ], "alias_name": [ "T7 helicase-related protein with intramitochondrial nucleoid localization" ], "gene_symbol": "TWNK", "hgnc_symbol": "TWNK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:102747124-102754158", "ensembl_id": "ENSG00000107815" } }, "GRch38": { "90": { "location": "10:100987367-100994401", "ensembl_id": "ENSG00000107815" } } }, "hgnc_date_symbol_changed": "2016-10-11" }, "entity_type": "gene", "entity_name": "TWNK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "32234020", "18593709" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245", "Perrault syndrome 5 616138", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9390", "gene_name": "protein kinase cAMP-dependent type I regulatory subunit beta", "omim_gene": [ "176911" ], "alias_name": null, "gene_symbol": "PRKAR1B", "hgnc_symbol": "PRKAR1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:588834-767287", "ensembl_id": "ENSG00000188191" } }, "GRch38": { "90": { "location": "7:549197-727650", "ensembl_id": "ENSG00000188191" } } }, "hgnc_date_symbol_changed": "1991-07-17" }, "entity_type": "gene", "entity_name": "PRKAR1B", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "https://doi.org/10.1101/2020.09.10.20190314", "25414040", "33057194" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Marbach-Schaaf neurodevelopmental syndrome MIM#619680", "Global developmental delay", "Intellectual disability", "Autism", "Attention deficit hyperactivity disorder", "Aggressive behavior", "Abnormality of movement", "Upslanted palpebral fissure" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LOC338328", "GPI-HBP1" ], "biotype": null, "hgnc_id": "HGNC:24945", "gene_name": "glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1", "omim_gene": [ "612757" ], "alias_name": [ "endothelial cell LPL transporter" ], "gene_symbol": "GPIHBP1", "hgnc_symbol": "GPIHBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:144295068-144299044", "ensembl_id": "ENSG00000182851" } }, "GRch38": { "90": { "location": "8:143213193-143217170", "ensembl_id": "ENSG00000277494" } } }, "hgnc_date_symbol_changed": "2008-02-07" }, "entity_type": "gene", "entity_name": "GPIHBP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17883852", "19304573", "20026666", "17403372" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hyperlipoproteinemia, type 1D MIM#615947", "familial chylomicronemia syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ34497", "PF6", "RP4-776P7.2", "CT143" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26620", "gene_name": "sperm associated antigen 17", "omim_gene": [ "616554" ], "alias_name": null, "gene_symbol": "SPAG17", "hgnc_symbol": "SPAG17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:118496484-118727846", "ensembl_id": "ENSG00000155761" } }, "GRch38": { "90": { "location": "1:117953861-118185223", "ensembl_id": "ENSG00000155761" } } }, "hgnc_date_symbol_changed": "2005-08-11" }, "entity_type": "gene", "entity_name": "SPAG17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28548327", "40330001", "39686771" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 55, MIM#619380" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "coll-2", "Sema-Z2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10726", "gene_name": "semaphorin 3D", "omim_gene": [ "609907" ], "alias_name": null, "gene_symbol": "SEMA3D", "hgnc_symbol": "SEMA3D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:84624869-84816171", "ensembl_id": "ENSG00000153993" } }, "GRch38": { "90": { "location": "7:84995553-85186855", "ensembl_id": "ENSG00000153993" } } }, "hgnc_date_symbol_changed": "1999-06-25" }, "entity_type": "gene", "entity_name": "SEMA3D", "confidence_level": "1", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "34159400" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hand and foot malformations", "Hirschsprung disease" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC20806" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28302", "gene_name": "leucine rich repeat containing 45", "omim_gene": null, "alias_name": null, "gene_symbol": "LRRC45", "hgnc_symbol": "LRRC45", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:79981178-79989027", "ensembl_id": "ENSG00000169683" } }, "GRch38": { "90": { "location": "17:82023302-82031151", "ensembl_id": "ENSG00000169683" } } }, "hgnc_date_symbol_changed": "2005-05-26" }, "entity_type": "gene", "entity_name": "LRRC45", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39638757" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, LRRC45-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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NOD5", "GC-LRR", "Nalp-iota", "PAN8", "CLR11.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22939", "gene_name": "NLR family pyrin domain containing 14", "omim_gene": [ "609665" ], "alias_name": [ "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14" ], "gene_symbol": "NLRP14", "hgnc_symbol": "NLRP14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:7041677-7092539", "ensembl_id": "ENSG00000158077" } }, "GRch38": { "90": { "location": "11:7020446-7071308", "ensembl_id": "ENSG00000158077" } } }, "hgnc_date_symbol_changed": "2006-12-08" }, "entity_type": "gene", "entity_name": "NLRP14", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38060382" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Inherited oocyte maturation defect, MONDO:0014769, NLRP14-related and early embryo arrest" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CEP4L", "CT79" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14927", "gene_name": "testis specific 10", "omim_gene": [ "607166" ], "alias_name": [ "cancer/testis antigen 79" ], "gene_symbol": "TSGA10", "hgnc_symbol": "TSGA10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:99613724-99771427", "ensembl_id": "ENSG00000135951" } }, "GRch38": { "90": { "location": "2:98997261-99154964", "ensembl_id": "ENSG00000135951" } } }, "hgnc_date_symbol_changed": "2001-03-20" }, "entity_type": "gene", "entity_name": "TSGA10", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28905369" ], "evidence": [ "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "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": "1.4733", "version_created": "2026-04-09T11:50:28.536610+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6013, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DHCR14B", "TDRD18" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6518", "gene_name": "lamin B receptor", "omim_gene": [ "600024" ], "alias_name": [ "tudor domain containing 18" ], "gene_symbol": "LBR", "hgnc_symbol": "LBR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:225589204-225616627", "ensembl_id": "ENSG00000143815" } }, "GRch38": { "90": { "location": "1:225401502-225428925", "ensembl_id": "ENSG00000143815" } } }, "hgnc_date_symbol_changed": "1995-04-27" }, "entity_type": "gene", "entity_name": "LBR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29068549" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Greenberg skeletal dysplasia, MIM#215140" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 179, "hash_id": null, "name": "Skeletal Ciliopathies", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.", "status": "public", "version": "1.23", "version_created": "2026-02-26T20:48:41.390236+11:00", "relevant_disorders": [ "Short rib", "HP:0000773; Polydactyly", "HP:0010442; Bell-shaped thorax", "HP:0001591" ], "stats": { "number_of_genes": 37, "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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MPS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5391", "gene_name": "iduronidase, alpha-L-", "omim_gene": [ "252800" ], "alias_name": null, "gene_symbol": "IDUA", "hgnc_symbol": "IDUA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:980785-998316", "ensembl_id": "ENSG00000127415" } }, "GRch38": { "90": { "location": "4:986997-1004506", "ensembl_id": "ENSG00000127415" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "IDUA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mucopolysaccharidosis Ih, MIM# 607014", "Mucopolysaccharidosis Ih/s, MIM# 607015", "Mucopolysaccharidosis Is, MIM# 607016", "Mucopolysaccharidosis type 1, MONDO:0001586" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 181, "hash_id": null, "name": "Lysosomal Storage Disorder", "disease_group": "Metabolic conditions", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.", "status": "public", "version": "1.31", "version_created": "2026-03-31T16:05:25.488597+11:00", "relevant_disorders": [ "Lysosomal storage disorder", "MONDO:0002561; Visceromegaly", "HP:0003271" ], "stats": { "number_of_genes": 80, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0622", "MAST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17088", "gene_name": "cytoplasmic linker associated protein 1", "omim_gene": [ "605852" ], "alias_name": [ "multiple asters 1" ], "gene_symbol": "CLASP1", "hgnc_symbol": "CLASP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:122095352-122407163", "ensembl_id": "ENSG00000074054" } }, "GRch38": { "90": { "location": "2:121337776-121649587", "ensembl_id": "ENSG00000074054" } } }, "hgnc_date_symbol_changed": "2002-06-12" }, "entity_type": "gene", "entity_name": "CLASP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39040917" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, CLASP1-related" ], "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": [ "hGPI8", "GPI8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8965", "gene_name": "phosphatidylinositol glycan anchor biosynthesis class K", "omim_gene": [ "605087" ], "alias_name": [ "GPI transamidase subunit" ], "gene_symbol": "PIGK", "hgnc_symbol": "PIGK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:77554675-77685115", "ensembl_id": "ENSG00000142892" } }, "GRch38": { "90": { "location": "1:77088990-77219430", "ensembl_id": "ENSG00000142892" } } }, "hgnc_date_symbol_changed": "1999-05-17" }, "entity_type": "gene", "entity_name": "PIGK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32220290" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879" ], "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": [ "LAG1", "UOG1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14253", "gene_name": "ceramide synthase 1", "omim_gene": [ "606919" ], "alias_name": null, "gene_symbol": "CERS1", "hgnc_symbol": "CERS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:18979361-19007536", "ensembl_id": "ENSG00000223802" } }, "GRch38": { "90": { "location": "19:18868545-18896727", "ensembl_id": "ENSG00000223802" } } }, "hgnc_date_symbol_changed": "2011-07-08" }, "entity_type": "gene", "entity_name": "CERS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24782409", "21625621", "30800706" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Epilepsy, progressive myoclonic, 8 MIM#616230" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5008", "gene_name": "3-hydroxy-3-methylglutaryl-CoA synthase 2", "omim_gene": [ "600234" ], "alias_name": null, "gene_symbol": "HMGCS2", "hgnc_symbol": "HMGCS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:120290619-120311528", "ensembl_id": "ENSG00000134240" } }, "GRch38": { "90": { "location": "1:119747996-119768905", "ensembl_id": "ENSG00000134240" } } }, "hgnc_date_symbol_changed": "1994-05-17" }, "entity_type": "gene", "entity_name": "HMGCS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25778941", "9337379", "23751782" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "HMG-CoA synthase-2 deficiency MIM#605911" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CSRP2BP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:40045", "gene_name": "PET117 homolog", "omim_gene": [ "614771" ], "alias_name": null, "gene_symbol": "PET117", "hgnc_symbol": "PET117", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:18118517-18123813", "ensembl_id": "ENSG00000232838" } }, "GRch38": { "90": { "location": "20:18137873-18143169", "ensembl_id": "ENSG00000232838" } } }, "hgnc_date_symbol_changed": "2012-02-23" }, "entity_type": "gene", "entity_name": "PET117", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28386624" ], "evidence": [ "Expert Review Red", "NHS GMS" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063", "Developmental delay" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ35794" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26661", "gene_name": "ring finger protein 168", "omim_gene": [ "612688" ], "alias_name": null, "gene_symbol": "RNF168", "hgnc_symbol": "RNF168", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:196195654-196230639", "ensembl_id": "ENSG00000163961" } }, "GRch38": { "90": { "location": "3:196468783-196503768", "ensembl_id": "ENSG00000163961" } } }, "hgnc_date_symbol_changed": "2005-01-25" }, "entity_type": "gene", "entity_name": "RNF168", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19203578", "21394101", "29255463", "21552324" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "RIDDLE syndrome MIM# 611943", "Radiosensitivity", "Immune Deficiency", "Dysmorphic Features", "Learning difficulties", "Low IgG or IgA", "Short stature", "mild defect of motor control to ataxia", "normal intelligence to learning difficulties", "mild facial dysmorphism to microcephaly" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 223, "hash_id": null, "name": "Combined Immunodeficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.", "status": "public", "version": "1.145", "version_created": "2026-03-02T21:55:19.238904+11:00", "relevant_disorders": [ "Combined immunodeficiency", "MONDO:0015131; Combined immunodeficiency", "HP:0005387" ], "stats": { "number_of_genes": 170, "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": [ "IL-17F", "ML-1", "ML1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16404", "gene_name": "interleukin 17F", "omim_gene": [ "606496" ], "alias_name": null, "gene_symbol": "IL17F", "hgnc_symbol": "IL17F", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:52101479-52109335", "ensembl_id": "ENSG00000112116" } }, "GRch38": { "90": { "location": "6:52236681-52244537", "ensembl_id": "ENSG00000112116" } } }, "hgnc_date_symbol_changed": "2002-03-18" }, "entity_type": "gene", "entity_name": "IL17F", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21350122" ], "evidence": [ "Expert Review Red", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Candidiasis, familial, 6, autosomal dominant, MIM# 613956" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 231, "hash_id": null, "name": "Defects of intrinsic and innate immunity", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.36", "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": null }, { "gene_data": { "alias": [ "p22-PHOX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2577", "gene_name": "cytochrome b-245 alpha chain", "omim_gene": [ "608508" ], "alias_name": [ "flavocytochrome b-558 alpha polypeptide" ], "gene_symbol": "CYBA", "hgnc_symbol": "CYBA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:88709691-88717560", "ensembl_id": "ENSG00000051523" } }, "GRch38": { "90": { "location": "16:88643283-88651152", "ensembl_id": "ENSG00000051523" } } }, "hgnc_date_symbol_changed": "1990-01-15" }, "entity_type": "gene", "entity_name": "CYBA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "2770793" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Immunology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Chronic granulomatous disease 4, autosomal recessive, MIM# 233690", "MONDO:0009308" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 233, "hash_id": null, "name": "Phagocyte Defects", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 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).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).", "status": "public", "version": "1.45", "version_created": "2025-12-15T10:26:57.519304+11:00", "relevant_disorders": [ "Unusual infection", "HP:0032101" ], "stats": { "number_of_genes": 58, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LMP10", "MGC1665", "beta2i" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9538", "gene_name": "proteasome subunit beta 10", "omim_gene": [ "176847" ], "alias_name": null, "gene_symbol": "PSMB10", "hgnc_symbol": "PSMB10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67968405-67970990", "ensembl_id": "ENSG00000205220" } }, "GRch38": { "90": { "location": "16:67934502-67937087", "ensembl_id": "ENSG00000205220" } } }, "hgnc_date_symbol_changed": "1993-07-29" }, "entity_type": "gene", "entity_name": "PSMB10", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38503300" ], "evidence": [ "Literature", "Expert Review Red", "Expert Review Red", "Literature" ], "phenotypes": [ "Severe combined immunodeficiency, MONDO:0015974, PSMB10-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 235, "hash_id": null, "name": "Severe Combined Immunodeficiency", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:\r\n- SCID with absent T present B cells\r\n- SCID with absent T absent B cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.30", "version_created": "2026-03-02T10:27:29.970169+11:00", "relevant_disorders": [ "Severe combined immunodeficiency", "HP:0004430" ], "stats": { "number_of_genes": 28, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FAB", "FLJ34064", "FAAP95" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3583", "gene_name": "Fanconi anemia complementation group B", "omim_gene": [ "300515" ], "alias_name": null, "gene_symbol": "FANCB", "hgnc_symbol": "FANCB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:14861529-14891191", "ensembl_id": "ENSG00000181544" } }, "GRch38": { "90": { "location": "X:14843407-14873069", "ensembl_id": "ENSG00000181544" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "FANCB", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Genetic Health Queensland" ], "phenotypes": [ "Fanconi anemia, complementation group B, MIM# 300514" ], "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": [ "KIAA0123", "Alpha-MPP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18667", "gene_name": "peptidase, mitochondrial processing alpha subunit", "omim_gene": [ "613036" ], "alias_name": null, "gene_symbol": "PMPCA", "hgnc_symbol": "PMPCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139305110-139318213", "ensembl_id": "ENSG00000165688" } }, "GRch38": { "90": { "location": "9:136410570-136423761", "ensembl_id": "ENSG00000165688" } } }, "hgnc_date_symbol_changed": "2003-06-20" }, "entity_type": "gene", "entity_name": "PMPCA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25808372", "26657514", "27148589", "30617178" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 2, MIM#\t213200" ], "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": [ "FLJ10998", "hDrn1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25613", "gene_name": "CWF19 like 1, cell cycle control (S. pombe)", "omim_gene": [ "616120" ], "alias_name": null, "gene_symbol": "CWF19L1", "hgnc_symbol": "CWF19L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:101992055-102027437", "ensembl_id": "ENSG00000095485" } }, "GRch38": { "90": { "location": "10:100232298-100267680", "ensembl_id": "ENSG00000095485" } } }, "hgnc_date_symbol_changed": "2004-03-08" }, "entity_type": "gene", "entity_name": "CWF19L1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25361784", "15981765", "26197978", "27016154", "30167849" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 17, MIM#616127", "intellectual disability, developmental delay" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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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:11006", "gene_name": "solute carrier family 2 member 2", "omim_gene": [ "138160" ], "alias_name": null, "gene_symbol": "SLC2A2", "hgnc_symbol": "SLC2A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:170714137-170744539", "ensembl_id": "ENSG00000163581" } }, "GRch38": { "90": { "location": "3:170996348-171026750", "ensembl_id": "ENSG00000163581" } } }, "hgnc_date_symbol_changed": "1989-01-13" }, "entity_type": "gene", "entity_name": "SLC2A2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Genetic Health Queensland" ], "phenotypes": [ "Fanconi-Bickel syndrome, MIM# 227810" ], "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:4384", "gene_name": "G protein subunit alpha i1", "omim_gene": [ "139310" ], "alias_name": [ "Gi1 protein alpha subunit" ], "gene_symbol": "GNAI1", "hgnc_symbol": "GNAI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:79763271-79848718", "ensembl_id": "ENSG00000127955" } }, "GRch38": { "90": { "location": "7:80133955-80219402", "ensembl_id": "ENSG00000127955" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "GNAI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28135719", "33473207" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854" ], "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": null }, { "gene_data": { "alias": [ "FLJ14600" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25903", "gene_name": "ATPase family, AAA domain containing 1", "omim_gene": [ "614452" ], "alias_name": [ "thorase" ], "gene_symbol": "ATAD1", "hgnc_symbol": "ATAD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:89511269-89601100", "ensembl_id": "ENSG00000138138" } }, "GRch38": { "90": { "location": "10:87751512-87841343", "ensembl_id": "ENSG00000138138" } } }, "hgnc_date_symbol_changed": "2007-02-08" }, "entity_type": "gene", "entity_name": "ATAD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28180185", "29390050", "29659736" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Hyperekplexia 4, MIM#618011" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 259, "hash_id": null, "name": "Paroxysmal Dyskinesia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.", "status": "public", "version": "0.145", "version_created": "2026-01-09T20:58:50.808183+11:00", "relevant_disorders": [ "Paroxysmal dyskinesia", "HP:0007166" ], "stats": { "number_of_genes": 54, "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": [ "HZF16", "HZF-16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12907", "gene_name": "zinc finger protein 124", "omim_gene": [ "194631" ], "alias_name": null, "gene_symbol": "ZNF124", "hgnc_symbol": "ZNF124", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:247285277-247335318", "ensembl_id": "ENSG00000196418" } }, "GRch38": { "90": { "location": "1:247121975-247172016", "ensembl_id": "ENSG00000196418" } } }, "hgnc_date_symbol_changed": "1992-09-24" }, "entity_type": "gene", "entity_name": "ZNF124", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41708596" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Retinitis pigmentosa, MONDO:0019200, ZNF124-related" ], "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11474", "gene_name": "SURF1, cytochrome c oxidase assembly factor", "omim_gene": [ "185620" ], "alias_name": [ "surfeit locus protein 1" ], "gene_symbol": "SURF1", "hgnc_symbol": "SURF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:136218610-136223552", "ensembl_id": "ENSG00000148290" } }, "GRch38": { "90": { "location": "9:133351755-133356676", "ensembl_id": "ENSG00000148290" } } }, "hgnc_date_symbol_changed": "1989-11-29" }, "entity_type": "gene", "entity_name": "SURF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Leigh syndrome, due to COX IV deficiency", "Mitochondrial Leukoencephalopathy", "Mitochondrial complex IV disorder" ], "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": [ "PBEF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30092", "gene_name": "nicotinamide phosphoribosyltransferase", "omim_gene": [ "608764" ], "alias_name": [ "visfatin" ], "gene_symbol": "NAMPT", "hgnc_symbol": "NAMPT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:105888731-105926772", "ensembl_id": "ENSG00000105835" } }, "GRch38": { "90": { "location": "7:106248285-106286326", "ensembl_id": "ENSG00000105835" } } }, "hgnc_date_symbol_changed": "2008-03-27" }, "entity_type": "gene", "entity_name": "NAMPT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41004591" ], "evidence": [ "Literature", "Expert Review Red", "Expert Review Red", "Literature" ], "phenotypes": [ "hereditary motor and sensory neuropathy MONDO:0015358" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MDR2", "PFIC-3", "GBD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:45", "gene_name": "ATP binding cassette subfamily B member 4", "omim_gene": [ "171060" ], "alias_name": null, "gene_symbol": "ABCB4", "hgnc_symbol": "ABCB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:87031013-87109751", "ensembl_id": "ENSG00000005471" } }, "GRch38": { "90": { "location": "7:87401697-87480435", "ensembl_id": "ENSG00000005471" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "ABCB4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8666348" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Disorders of bile acid metabolism", "progressive familial intrahepatic cholestasis type 3 MONDO:0011214" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3077, "hash_id": null, "name": "Haem degradation and bilirubin metabolism defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause disorders of tetrapyrroles, including porphyria and disorders of bilirubin metabolism and biliary transport. \r\n\r\nThis panel is part of the Metabolic Disorders Superpanl. It was developed and maintained by RMH, and is a consensus panel used by VCGS.", "status": "public", "version": "0.20", "version_created": "2026-02-22T15:38:52.606788+11:00", "relevant_disorders": [ "Porphyria", "MONDO:0037939;Abnormal circulating porphyrin concentration", "HP:0010472;Hyperbilirubinemia", "HP:0002904" ], "stats": { "number_of_genes": 25, "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": [ "SCA31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11831", "gene_name": "thymidine kinase 2, mitochondrial", "omim_gene": [ "188250" ], "alias_name": null, "gene_symbol": "TK2", "hgnc_symbol": "TK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:66541906-66586447", "ensembl_id": "ENSG00000166548" } }, "GRch38": { "90": { "location": "16:66508003-66552544", "ensembl_id": "ENSG00000166548" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (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:663", "gene_name": "arginase 1", "omim_gene": [ "608313" ], "alias_name": null, "gene_symbol": "ARG1", "hgnc_symbol": "ARG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:131894284-131905472", "ensembl_id": "ENSG00000118520" } }, "GRch38": { "90": { "location": "6:131573144-131584332", "ensembl_id": "ENSG00000118520" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ARG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Argininemia, 207800 (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": [ "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": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Glutaric acidemia IIC, 231680 (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": [ "DHPR", "PKU2", "SDR33C1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9752", "gene_name": "quinoid dihydropteridine reductase", "omim_gene": [ "612676" ], "alias_name": [ "6,7-dihydropteridine reductase", "short chain dehydrogenase/reductase family 33C, member 1" ], "gene_symbol": "QDPR", "hgnc_symbol": "QDPR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:17461884-17513857", "ensembl_id": "ENSG00000151552" } }, "GRch38": { "90": { "location": "4:17460261-17512234", "ensembl_id": "ENSG00000151552" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "QDPR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hyperphenylalaninemia, BH4-deficient, C, 261630 (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": [ "THES" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23639", "gene_name": "tetratricopeptide repeat domain 37", "omim_gene": [ "614589" ], "alias_name": [ "thespin" ], "gene_symbol": "TTC37", "hgnc_symbol": "TTC37", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:94799599-94890711", "ensembl_id": "ENSG00000198677" } }, "GRch38": { "90": { "location": "5:95463895-95555007", "ensembl_id": "ENSG00000198677" } } }, "hgnc_date_symbol_changed": "2008-06-11" }, "entity_type": "gene", "entity_name": "TTC37", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Trichohepatoenteric syndrome 1, 222470 (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:4908", "gene_name": "3-hydroxyisobutyryl-CoA hydrolase", "omim_gene": [ "610690" ], "alias_name": null, "gene_symbol": "HIBCH", "hgnc_symbol": "HIBCH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:191054461-191208919", "ensembl_id": "ENSG00000198130" } }, "GRch38": { "90": { "location": "2:190189735-190344193", "ensembl_id": "ENSG00000198130" } } }, "hgnc_date_symbol_changed": "1999-12-07" }, "entity_type": "gene", "entity_name": "HIBCH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Neurodegeneration, progressive infantile" ], "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": [ "SP-A2", "COLEC5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10799", "gene_name": "surfactant protein A2", "omim_gene": [ "178642" ], "alias_name": [ "surfactant, pulmonary-associated protein A2A" ], "gene_symbol": "SFTPA2", "hgnc_symbol": "SFTPA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:81315608-81320153", "ensembl_id": "ENSG00000185303" } }, "GRch38": { "90": { "location": "10:79555852-79560402", "ensembl_id": "ENSG00000185303" } } }, "hgnc_date_symbol_changed": "1997-04-16" }, "entity_type": "gene", "entity_name": "SFTPA2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Pulmonary fibrosis, idiopathic" ], "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:3661", "gene_name": "fibrinogen alpha chain", "omim_gene": [ "134820" ], "alias_name": null, "gene_symbol": "FGA", "hgnc_symbol": "FGA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:155504278-155511918", "ensembl_id": "ENSG00000171560" } }, "GRch38": { "90": { "location": "4:154583126-154590766", "ensembl_id": "ENSG00000171560" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FGA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Afibrinogenaemia" ], "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": [ "TRPML1", "ML4", "MLIV", "MST080", "MSTP080", "TRPM-L1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13356", "gene_name": "mucolipin 1", "omim_gene": [ "605248" ], "alias_name": null, "gene_symbol": "MCOLN1", "hgnc_symbol": "MCOLN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:7587512-7598895", "ensembl_id": "ENSG00000090674" } }, "GRch38": { "90": { "location": "19:7522626-7534009", "ensembl_id": "ENSG00000090674" } } }, "hgnc_date_symbol_changed": "2000-09-19" }, "entity_type": "gene", "entity_name": "MCOLN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Mucolipidosis IV" ], "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10889", "gene_name": "SIX homeobox 3", "omim_gene": [ "603714" ], "alias_name": null, "gene_symbol": "SIX3", "hgnc_symbol": "SIX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:45168902-45173216", "ensembl_id": "ENSG00000138083" } }, "GRch38": { "90": { "location": "2:44941898-44946077", "ensembl_id": "ENSG00000138083" } } }, "hgnc_date_symbol_changed": "1998-04-21" }, "entity_type": "gene", "entity_name": "SIX3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "HOLOPROSENCEPHALY 2", "HPE2" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HKE5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2187", "gene_name": "collagen type XI alpha 2 chain", "omim_gene": [ "120290" ], "alias_name": null, "gene_symbol": "COL11A2", "hgnc_symbol": "COL11A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33130458-33160276", "ensembl_id": "ENSG00000204248" } }, "GRch38": { "90": { "location": "6:33162681-33192499", "ensembl_id": "ENSG00000204248" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "COL11A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Eligibility statement prior genetic testing", "Radboud University Medical Center, Nijmegen", "UKGTN" ], "phenotypes": [ "Cleft palate", "OSMED", "STL3", "Stickler syndrome, type III", "Non-ocular Stickler syndrome", "STICKLER SYNDROME, NONOCULAR TYPE" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "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": [ "17200672", "17200671" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fanconi anaemia, complementation group N, MIM# 610832" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3084", "gene_name": "dishevelled segment polarity protein 1", "omim_gene": [ "601365" ], "alias_name": null, "gene_symbol": "DVL1", "hgnc_symbol": "DVL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:1270656-1284730", "ensembl_id": "ENSG00000107404" } }, "GRch38": { "90": { "location": "1:1335276-1349350", "ensembl_id": "ENSG00000107404" } } }, "hgnc_date_symbol_changed": "1996-03-12" }, "entity_type": "gene", "entity_name": "DVL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "UKGTN", "Radboud University Medical Center, Nijmegen", "NHS GMS", "Expert list" ], "phenotypes": [ "Robinow syndrome, autosomal dominant 2, MIM# 616331" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)", "tags": [], "panel": { "id": 3729, "hash_id": null, "name": "Hand and foot malformations", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.", "status": "public", "version": "0.89", "version_created": "2026-04-07T13:49:34.993963+10:00", "relevant_disorders": [ "Abnormal hand morphology", "HP:0005922; Abnormal foot morphology", "HP:0001760" ], "stats": { "number_of_genes": 101, "number_of_strs": 1, "number_of_regions": 5 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PFP", "P1", "HPLH2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9360", "gene_name": "perforin 1", "omim_gene": [ "170280" ], "alias_name": [ "Perforin", "perforin 1 (preforming protein)" ], "gene_symbol": "PRF1", "hgnc_symbol": "PRF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:72357104-72362531", "ensembl_id": "ENSG00000180644" } }, "GRch38": { "90": { "location": "10:70597348-70602775", "ensembl_id": "ENSG00000180644" } } }, "hgnc_date_symbol_changed": "1989-02-23" }, "entity_type": "gene", "entity_name": "PRF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19595804", "26199792", "30070073" ], "evidence": [ "Expert Review Green", "Literature", "Expert list", "Other" ], "phenotypes": [ "Aplastic anaemia - #609135", "Haemophagocytic lymphohistiocytosis, familial, 2 - #603553" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:17111", "gene_name": "ADAM metallopeptidase with thrombospondin type 1 motif 19", "omim_gene": [ "607513" ], "alias_name": null, "gene_symbol": "ADAMTS19", "hgnc_symbol": "ADAMTS19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:128795958-129074376", "ensembl_id": "ENSG00000145808" } }, "GRch38": { "90": { "location": "5:129460265-129738683", "ensembl_id": "ENSG00000145808" } } }, "hgnc_date_symbol_changed": "2002-03-05" }, "entity_type": "gene", "entity_name": "ADAMTS19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32323311", "31844321" ], "evidence": [ "Expert Review Green", "Literature", "Expert list" ], "phenotypes": [ "Cardiac valvular dysplasia 2, MIM# 620067" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ23476", "IRIP", "SUA5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28905", "gene_name": "yrdC N6-threonylcarbamoyltransferase domain containing", "omim_gene": [ "612276" ], "alias_name": [ "ischemia/reperfusion inducible protein" ], "gene_symbol": "YRDC", "hgnc_symbol": "YRDC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:38268616-38273857", "ensembl_id": "ENSG00000196449" } }, "GRch38": { "90": { "location": "1:37802944-37808185", "ensembl_id": "ENSG00000196449" } } }, "hgnc_date_symbol_changed": "2005-08-08" }, "entity_type": "gene", "entity_name": "YRDC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 31481669", "34545459" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Galloway-Mowat syndrome 10, OMIM # 619609" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16791", "gene_name": "tRNA splicing endonuclease subunit 15", "omim_gene": [ "608756" ], "alias_name": null, "gene_symbol": "TSEN15", "hgnc_symbol": "TSEN15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:184020811-184043346", "ensembl_id": "ENSG00000198860" } }, "GRch38": { "90": { "location": "1:184051677-184074212", "ensembl_id": "ENSG00000198860" } } }, "hgnc_date_symbol_changed": "2008-06-12" }, "entity_type": "gene", "entity_name": "TSEN15", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27392077", "30914295", "25558065" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Literature", "Expert list" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 2F MIM#617026" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NY-CO-8", "CCCAP", "SLSN7", "NPHP10", "BBS16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10671", "gene_name": "serologically defined colon cancer antigen 8", "omim_gene": [ "613524" ], "alias_name": [ "centrosomal colon cancer autoantigen protein", "Bardet-Biedl syndrome 16", "nephrocystin 10", "Senior-Loken syndrome 7" ], "gene_symbol": "SDCCAG8", "hgnc_symbol": "SDCCAG8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:243419320-243663394", "ensembl_id": "ENSG00000054282" } }, "GRch38": { "90": { "location": "1:243256034-243500092", "ensembl_id": "ENSG00000054282" } } }, "hgnc_date_symbol_changed": "1999-08-25" }, "entity_type": "gene", "entity_name": "SDCCAG8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20835237", "22626039", "22626039", "32432520", "31534065", "26968886" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "KidGen_CilioNephronop v38.1.0" ], "phenotypes": [ "Bardet-Biedl syndrome 16, MIM# 615993", "MONDO:0014444", "Senior-Loken syndrome 7, MIM# 613615", "MONDO:0013326", "Nephronophthisis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "STL2", "CO11A1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2186", "gene_name": "collagen type XI alpha 1 chain", "omim_gene": [ "120280" ], "alias_name": [ "collagen XI, alpha-1 polypeptide" ], "gene_symbol": "COL11A1", "hgnc_symbol": "COL11A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:103342023-103574052", "ensembl_id": "ENSG00000060718" } }, "GRch38": { "90": { "location": "1:102876467-103108496", "ensembl_id": "ENSG00000060718" } } }, "hgnc_date_symbol_changed": "1989-05-08" }, "entity_type": "gene", "entity_name": "COL11A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Fibrochondrogenesis 1, MIM# 228520", "Marshall syndrome, MIM# 154780" ], "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": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FALDH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:403", "gene_name": "aldehyde dehydrogenase 3 family member A2", "omim_gene": [ "609523" ], "alias_name": [ "fatty aldehyde dehydrogenase" ], "gene_symbol": "ALDH3A2", "hgnc_symbol": "ALDH3A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:19551449-19580911", "ensembl_id": "ENSG00000072210" } }, "GRch38": { "90": { "location": "17:19648136-19677598", "ensembl_id": "ENSG00000072210" } } }, "hgnc_date_symbol_changed": "1996-06-14" }, "entity_type": "gene", "entity_name": "ALDH3A2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31273323" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Sjogren-Larsson syndrome MIM#270200", "spasticity", "ichthyosis", "intellectual disability" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2207, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1345", "MKS6", "JBTS9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29253", "gene_name": "coiled-coil and C2 domain containing 2A", "omim_gene": [ "612013" ], "alias_name": [ "Meckel syndrome, type 6" ], "gene_symbol": "CC2D2A", "hgnc_symbol": "CC2D2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:15471489-15603180", "ensembl_id": "ENSG00000048342" } }, "GRch38": { "90": { "location": "4:15469865-15601557", "ensembl_id": "ENSG00000048342" } } }, "hgnc_date_symbol_changed": "2007-10-19" }, "entity_type": "gene", "entity_name": "CC2D2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18387594", "18950740", "18513680", "18950740", "19574260", "21725307", "33486889", "22241855", "27081510", "30267408" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "COACH syndrome, MIM#216360", "Joubert syndrome 9, MIM#612285", "Meckel syndrome 6, MIM#612284", "Retinitis pigmentosa 93, MIM# 619845" ], "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": [ "EFO2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27230", "gene_name": "establishment of sister chromatid cohesion N-acetyltransferase 2", "omim_gene": [ "609353" ], "alias_name": null, "gene_symbol": "ESCO2", "hgnc_symbol": "ESCO2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:27629466-27670157", "ensembl_id": "ENSG00000171320" } }, "GRch38": { "90": { "location": "8:27771949-27812640", "ensembl_id": "ENSG00000171320" } } }, "hgnc_date_symbol_changed": "2005-01-04" }, "entity_type": "gene", "entity_name": "ESCO2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32977150" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Juberg-Hayward syndrome (MIM#216100)", "Roberts-SC phocomelia syndrome (MIM#268300)" ], "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": [ "FLJ23356", "SgK196" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26267", "gene_name": "protein-O-mannose kinase", "omim_gene": [ "615247" ], "alias_name": null, "gene_symbol": "POMK", "hgnc_symbol": "POMK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:42948658-42978577", "ensembl_id": "ENSG00000185900" } }, "GRch38": { "90": { "location": "8:43093506-43123434", "ensembl_id": "ENSG00000185900" } } }, "hgnc_date_symbol_changed": "2013-08-22" }, "entity_type": "gene", "entity_name": "POMK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32907597", "31833209", "29910097", "28109637", "24925318", "24556084" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249" ], "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:493", "gene_name": "ankyrin 2", "omim_gene": [ "106410" ], "alias_name": null, "gene_symbol": "ANK2", "hgnc_symbol": "ANK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:113739265-114304896", "ensembl_id": "ENSG00000145362" } }, "GRch38": { "90": { "location": "4:112818109-113383740", "ensembl_id": "ENSG00000145362" } } }, "hgnc_date_symbol_changed": "1991-06-04" }, "entity_type": "gene", "entity_name": "ANK2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category B gene" ], "phenotypes": [ "Complex neurodevelopmental disorder, MONDO:0100038" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NEPPK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6423", "gene_name": "keratin 16", "omim_gene": [ "148067" ], "alias_name": [ "focal non-epidermolytic palmoplantar keratoderma" ], "gene_symbol": "KRT16", "hgnc_symbol": "KRT16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39766030-39772151", "ensembl_id": "ENSG00000186832" } }, "GRch38": { "90": { "location": "17:41609778-41615899", "ensembl_id": "ENSG00000186832" } } }, "hgnc_date_symbol_changed": "1992-12-14" }, "entity_type": "gene", "entity_name": "KRT16", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC71996", "NBIA3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3999", "gene_name": "ferritin light chain", "omim_gene": [ "134790" ], "alias_name": [ "ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3" ], "gene_symbol": "FTL", "hgnc_symbol": "FTL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:49468558-49470135", "ensembl_id": "ENSG00000087086" } }, "GRch38": { "90": { "location": "19:48965301-48966878", "ensembl_id": "ENSG00000087086" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "FTL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Neurodegeneration with brain iron accumulation 3, MIM# 606159" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7600", "gene_name": "myosin IF", "omim_gene": [ "601480" ], "alias_name": null, "gene_symbol": "MYO1F", "hgnc_symbol": "MYO1F", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:8585674-8642461", "ensembl_id": "ENSG00000142347" } }, "GRch38": { "90": { "location": "19:8520790-8577577", "ensembl_id": "ENSG00000142347" } } }, "hgnc_date_symbol_changed": "1996-04-04" }, "entity_type": "gene", "entity_name": "MYO1F", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Sensorineural hearing loss" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BART" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16512", "gene_name": "barttin CLCNK type accessory beta subunit", "omim_gene": [ "606412" ], "alias_name": null, "gene_symbol": "BSND", "hgnc_symbol": "BSND", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:55464606-55476556", "ensembl_id": "ENSG00000162399" } }, "GRch38": { "90": { "location": "1:54998933-55010883", "ensembl_id": "ENSG00000162399" } } }, "hgnc_date_symbol_changed": "2004-01-28" }, "entity_type": "gene", "entity_name": "BSND", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11687798", "19646679", "16572343" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bartter syndrome, type 4a MIM#602522" ], "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": [ "SEN54", "SEN54L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27561", "gene_name": "tRNA splicing endonuclease subunit 54", "omim_gene": [ "608755" ], "alias_name": null, "gene_symbol": "TSEN54", "hgnc_symbol": "TSEN54", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:73512141-73520820", "ensembl_id": "ENSG00000182173" } }, "GRch38": { "90": { "location": "17:75516060-75524739", "ensembl_id": "ENSG00000182173" } } }, "hgnc_date_symbol_changed": "2005-03-11" }, "entity_type": "gene", "entity_name": "TSEN54", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20952379" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Pontocerebellar hypoplasia type 2A (MIM#277470)", "Pontocerebellar hypoplasia type 4 (MIM#225753)", "?Pontocerebellar hypoplasia type 5 (MIM#610204)" ], "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": [ "PROSC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9457", "gene_name": "pyridoxal phosphate binding protein", "omim_gene": [ "604436" ], "alias_name": [ "proline synthetase co-transcribed (bacterial homolog)", "proline synthetase cotranscribed homolog (bacterial)" ], "gene_symbol": "PLPBP", "hgnc_symbol": "PLPBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:37620111-37637283", "ensembl_id": "ENSG00000147471" } }, "GRch38": { "90": { "location": "8:37762593-37779767", "ensembl_id": "ENSG00000147471" } } }, "hgnc_date_symbol_changed": "2017-02-28" }, "entity_type": "gene", "entity_name": "PLPBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30668673, 36795901" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "pyridoxine-dependent epilepsy MONDO:0009945", "Disorders of pyridoxine metabolism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4257, "hash_id": null, "name": "Vitamin metabolism disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.7", "version_created": "2024-09-18T09:35:00.495806+10:00", "relevant_disorders": [ "Abnormality of vitamin metabolism", "HP:0100508" ], "stats": { "number_of_genes": 62, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12541" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30650", "gene_name": "stimulated by retinoic acid 6", "omim_gene": [ "610745" ], "alias_name": [ "retinol binding protein 4 receptor" ], "gene_symbol": "STRA6", "hgnc_symbol": "STRA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:74471807-74504608", "ensembl_id": "ENSG00000137868" } }, "GRch38": { "90": { "location": "15:74179466-74212267", "ensembl_id": "ENSG00000137868" } } }, "hgnc_date_symbol_changed": "2004-12-20" }, "entity_type": "gene", "entity_name": "STRA6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21901792, 18316031, 24852372" ], "evidence": [ "Expert Review Amber" ], "phenotypes": [ "Matthew-Wood syndrome MONDO:0011010", "Other disorders of vitamin metabolism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4257, "hash_id": null, "name": "Vitamin metabolism disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.7", "version_created": "2024-09-18T09:35:00.495806+10:00", "relevant_disorders": [ "Abnormality of vitamin metabolism", "HP:0100508" ], "stats": { "number_of_genes": 62, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ABP-280" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3754", "gene_name": "filamin A", "omim_gene": [ "300017" ], "alias_name": [ "actin binding protein 280", "alpha filamin" ], "gene_symbol": "FLNA", "hgnc_symbol": "FLNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153576892-153603006", "ensembl_id": "ENSG00000196924" } }, "GRch38": { "90": { "location": "X:154348524-154374638", "ensembl_id": "ENSG00000196924" } } }, "hgnc_date_symbol_changed": "1993-03-18" }, "entity_type": "gene", "entity_name": "FLNA", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29334594" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Spontaneous coronary artery dissection" ], "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": 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": [ "StAR", "STARD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11359", "gene_name": "steroidogenic acute regulatory protein", "omim_gene": [ "600617" ], "alias_name": [ "StAR related lipid transfer (START) domain containing 1" ], "gene_symbol": "STAR", "hgnc_symbol": "STAR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:38001167-38008783", "ensembl_id": "ENSG00000147465" } }, "GRch38": { "90": { "location": "8:38143649-38151265", "ensembl_id": "ENSG00000147465" } } }, "hgnc_date_symbol_changed": "1996-04-24" }, "entity_type": "gene", "entity_name": "STAR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7892608", "8634702" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Lipoid adrenal hyperplasia (MIM#201710)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4522, "hash_id": null, "name": "Congenital adrenal hyperplasia", "disease_group": "Endocrine disorders", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with congenital adrenal hyperplasia.\r\n\r\nFor a high suspicion of 21-hydroxylase deficiency CAH: \r\nrequest a specific assay of CYP21A2 gene which includes analysis of deletions, duplications, and gene conversions.", "status": "public", "version": "0.8", "version_created": "2026-01-29T13:38:25.687384+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "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": [ "MED", "THBS5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2227", "gene_name": "cartilage oligomeric matrix protein", "omim_gene": [ "600310" ], "alias_name": [ "thrombospondin-5" ], "gene_symbol": "COMP", "hgnc_symbol": "COMP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:18893583-18902123", "ensembl_id": "ENSG00000105664" } }, "GRch38": { "90": { "location": "19:18782773-18791314", "ensembl_id": "ENSG00000105664" } } }, "hgnc_date_symbol_changed": "1994-05-24" }, "entity_type": "str", "entity_name": "COMP_MEDPSACH_GAC", "confidence_level": "3", "penetrance": null, "publications": [ "9887340", "17133256", "21922596" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epiphyseal dysplasia, multiple, 1 MIM#132400", "Pseudoachondroplasia MIM#177170" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "GAC", "chromosome": "19", "grch37_coordinates": [ 18896844, 18896859 ], "grch38_coordinates": [ 18786034, 18786049 ], "normal_repeats": 5, "pathogenic_repeats": 6, "tags": [ "paediatric-onset" ], "panel": { "id": 3597, "hash_id": null, "name": "Repeat Disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.", "status": "public", "version": "0.272", "version_created": "2026-01-02T15:16:39.779953+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 76, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] } } ] }