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GET /api/v1/entities/?format=api&page=160
{ "count": 36079, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=161", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=159", "results": [ { "gene_data": { "alias": [ "CDHF14", "FAT-J", "CDHR11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23109", "gene_name": "FAT atypical cadherin 4", "omim_gene": [ "612411" ], "alias_name": [ "cadherin-related family member 11" ], "gene_symbol": "FAT4", "hgnc_symbol": "FAT4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:126237554-126414087", "ensembl_id": "ENSG00000196159" } }, "GRch38": { "90": { "location": "4:125316399-125492932", "ensembl_id": "ENSG00000196159" } } }, "hgnc_date_symbol_changed": "2003-09-11" }, "entity_type": "gene", "entity_name": "FAT4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22473091", "24056717" ], "evidence": [ "Expert Review Amber", "Australian Genomics Health Alliance Brain Malformation Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Van Maldergem syndrome 2, MIM# 615546" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 19, "hash_id": null, "name": "Periventricular Grey Matter Heterotopia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles.\r\n\r\nThis panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS and a consensus panel used by RMH.", "status": "public", "version": "1.2", "version_created": "2023-01-04T20:17:09.749124+11:00", "relevant_disorders": [ "Grey matter heterotopia", "HP:0002282" ], "stats": { "number_of_genes": 12, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7897", "gene_name": "NPC intracellular cholesterol transporter 1", "omim_gene": [ "607623" ], "alias_name": null, "gene_symbol": "NPC1", "hgnc_symbol": "NPC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:21086148-21166862", "ensembl_id": "ENSG00000141458" } }, "GRch38": { "90": { "location": "18:23506184-23586898", "ensembl_id": "ENSG00000141458" } } }, "hgnc_date_symbol_changed": "1993-04-13" }, "entity_type": "gene", "entity_name": "NPC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301473", "11182931" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Niemann-Pick disease, type C1 (MIM#257220", "MONDO:0009757)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 24, "hash_id": null, "name": "Early-onset Dementia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.58", "version_created": "2026-03-31T16:43:37.497568+11:00", "relevant_disorders": [ "Cognitive impairment", "HP:0100543" ], "stats": { "number_of_genes": 96, "number_of_strs": 6, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0304", "MLL2", "TRX2", "HRX2", "WBP7", "MLL1B", "MLL4", "CXXC10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15840", "gene_name": "lysine methyltransferase 2B", "omim_gene": [ "606834" ], "alias_name": [ "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4" ], "gene_symbol": "KMT2B", "hgnc_symbol": "KMT2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36208921-36229779", "ensembl_id": "ENSG00000272333" } }, "GRch38": { "90": { "location": "19:35718019-35738878", "ensembl_id": "ENSG00000272333" } } }, "hgnc_date_symbol_changed": "2013-05-09" }, "entity_type": "gene", "entity_name": "KMT2B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33816656" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Dystonia 28, childhood-onset , MIM#617284" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.55", "version_created": "2026-04-17T16:01:21.596122+10:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SYNE-1B", "KIAA0796", "8B", "Nesprin-1", "enaptin", "MYNE1", "CPG2", "dJ45H2.2", "SCAR8", "ARCA1", "Nesp1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17089", "gene_name": "spectrin repeat containing nuclear envelope protein 1", "omim_gene": [ "608441" ], "alias_name": [ "myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1" ], "gene_symbol": "SYNE1", "hgnc_symbol": "SYNE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:152442819-152958936", "ensembl_id": "ENSG00000131018" } }, "GRch38": { "90": { "location": "6:152121684-152637801", "ensembl_id": "ENSG00000131018" } } }, "hgnc_date_symbol_changed": "2003-02-19" }, "entity_type": "gene", "entity_name": "SYNE1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 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": "0.249", "version_created": "2026-04-18T18:49:11.555064+10:00", "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": [ "BRAF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1097", "gene_name": "B-Raf proto-oncogene, serine/threonine kinase", "omim_gene": [ "164757" ], "alias_name": null, "gene_symbol": "BRAF", "hgnc_symbol": "BRAF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:140419127-140624564", "ensembl_id": "ENSG00000157764" } }, "GRch38": { "90": { "location": "7:140719327-140924764", "ensembl_id": "ENSG00000157764" } } }, "hgnc_date_symbol_changed": "1991-07-16" }, "entity_type": "gene", "entity_name": "BRAF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "19206169", "18042262" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cardiofaciocutaneous syndrome, 115150", "Noonan syndrome 7, 613706" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.535", "version_created": "2026-04-21T11:25:32.018166+10:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 254, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Raf-1", "c-Raf", "CRAF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9829", "gene_name": "Raf-1 proto-oncogene, serine/threonine kinase", "omim_gene": [ "164760" ], "alias_name": [ "C-Raf proto-oncogene, serine/threonine kinase" ], "gene_symbol": "RAF1", "hgnc_symbol": "RAF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:12625100-12705725", "ensembl_id": "ENSG00000132155" } }, "GRch38": { "90": { "location": "3:12583601-12664226", "ensembl_id": "ENSG00000132155" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "RAF1", "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": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.535", "version_created": "2026-04-21T11:25:32.018166+10:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 254, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DDBB", "UV-DDB2", "FLJ34321", "XPE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2718", "gene_name": "damage specific DNA binding protein 2", "omim_gene": [ "600811" ], "alias_name": [ "xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit" ], "gene_symbol": "DDB2", "hgnc_symbol": "DDB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47236493-47260767", "ensembl_id": "ENSG00000134574" } }, "GRch38": { "90": { "location": "11:47214465-47239240", "ensembl_id": "ENSG00000134574" } } }, "hgnc_date_symbol_changed": "1995-07-06" }, "entity_type": "gene", "entity_name": "DDB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33544716", "32457468", "32239545", "32228487" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 79, "hash_id": null, "name": "Chromosome Breakage Disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.", "status": "public", "version": "1.24", "version_created": "2025-10-16T15:58:38.818741+11:00", "relevant_disorders": [ "Chromosome breakage HP:0040012" ], "stats": { "number_of_genes": 60, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2214", "gene_name": "collagen type VII alpha 1 chain", "omim_gene": [ "120120" ], "alias_name": [ "collagen VII, alpha-1 polypeptide", "LC collagen" ], "gene_symbol": "COL7A1", "hgnc_symbol": "COL7A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:48601506-48632700", "ensembl_id": "ENSG00000114270" } }, "GRch38": { "90": { "location": "3:48564073-48595267", "ensembl_id": "ENSG00000114270" } } }, "hgnc_date_symbol_changed": "1991-11-01" }, "entity_type": "gene", "entity_name": "COL7A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "EBD inversa, MIM# 226600", "EBD, Bart type MIM# 132000", "EBD, localisata variant", "Epidermolysis bullosa dystrophica, MIM# 131750", "Epidermolysis bullosa dystrophica, 226600", "Epidermolysis bullosa pruriginosa 604129", "Epidermolysis bullosa, pretibial, MIM# 131850", "Transient bullous of the newborn 131705" ], "mode_of_inheritance": "BOTH monoallelic and 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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3354", "gene_name": "enolase 3", "omim_gene": [ "131370" ], "alias_name": [ "beta-enolase", "muscle enriched enolase" ], "gene_symbol": "ENO3", "hgnc_symbol": "ENO3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:4851387-4860426", "ensembl_id": "ENSG00000108515" } }, "GRch38": { "90": { "location": "17:4948092-4957131", "ensembl_id": "ENSG00000108515" } } }, "hgnc_date_symbol_changed": "1990-03-21" }, "entity_type": "gene", "entity_name": "ENO3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31741825", "11506403", "18070103", "25267339" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease XIII, MIM#612932" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4165", "gene_name": "growth arrest specific 1", "omim_gene": [ "139185" ], "alias_name": [ "Growth arrest-specific gene-1" ], "gene_symbol": "GAS1", "hgnc_symbol": "GAS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:89559279-89562104", "ensembl_id": "ENSG00000180447" } }, "GRch38": { "90": { "location": "9:86944363-86947189", "ensembl_id": "ENSG00000180447" } } }, "hgnc_date_symbol_changed": "1993-06-23" }, "entity_type": "gene", "entity_name": "GAS1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21842183", "20583177" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Holoprosencephaly" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 112, "hash_id": null, "name": "Holoprosencephaly and septo-optic dysplasia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "1.24", "version_created": "2026-03-03T11:24:20.637349+11:00", "relevant_disorders": [ "Holoprosencephaly", "HP:0001360; Septo-optic dysplasia", "HP:0100842" ], "stats": { "number_of_genes": 31, "number_of_strs": 1, "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": [ "HFH-4", "HFH4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3816", "gene_name": "forkhead box J1", "omim_gene": [ "602291" ], "alias_name": null, "gene_symbol": "FOXJ1", "hgnc_symbol": "FOXJ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:74132414-74137380", "ensembl_id": "ENSG00000129654" } }, "GRch38": { "90": { "location": "17:76136333-76141299", "ensembl_id": "ENSG00000129654" } } }, "hgnc_date_symbol_changed": "1996-11-13" }, "entity_type": "gene", "entity_name": "FOXJ1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33077954" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital hydrocephalus", "Ciliary dyskinesia, primary, 43, MIM#618699" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 115, "hash_id": null, "name": "Hydrocephalus_Ventriculomegaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.", "status": "public", "version": "0.134", "version_created": "2026-01-28T12:49:29.963583+11:00", "relevant_disorders": [ "Hydrocephalus", "HP:0000238; Ventriculomegaly", "HP:0002119" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MTPB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4803", "gene_name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta", "omim_gene": [ "143450" ], "alias_name": [ "mitochondrial trifunctional protein, beta subunit" ], "gene_symbol": "HADHB", "hgnc_symbol": "HADHB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:26466038-26513336", "ensembl_id": "ENSG00000138029" } }, "GRch38": { "90": { "location": "2:26243170-26290468", "ensembl_id": "ENSG00000138029" } } }, "hgnc_date_symbol_changed": "1994-12-16" }, "entity_type": "gene", "entity_name": "HADHB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26070998" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Trifunctional protein deficiency, MIM#\t609015" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 116, "hash_id": null, "name": "Hydrops fetalis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.", "status": "public", "version": "0.328", "version_created": "2025-07-08T23:27:02.854141+10:00", "relevant_disorders": [ "Hydrops fetalis", "HP:0001789" ], "stats": { "number_of_genes": 169, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:952", "gene_name": "BRCA1 associated RING domain 1", "omim_gene": [ "601593" ], "alias_name": null, "gene_symbol": "BARD1", "hgnc_symbol": "BARD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:215590370-215674428", "ensembl_id": "ENSG00000138376" } }, "GRch38": { "90": { "location": "2:214725646-214809711", "ensembl_id": "ENSG00000138376" } } }, "hgnc_date_symbol_changed": "1998-08-05" }, "entity_type": "gene", "entity_name": "BARD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert list", "Expert Review", "Expert Review Green", "Expert Review", "Expert list" ], "phenotypes": [ "Breast cancer, MONDO:0007254", "BARD1-related cancer predisposition, MONDO:0700267", "Breast cancer, susceptibility to, MIM#114480" ], "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": [] }, { "gene_data": { "alias": [ "GPT", "D11S366", "DGPT", "ALG7", "CDG-Ij" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2995", "gene_name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1", "omim_gene": [ "191350" ], "alias_name": [ "GlcNAc-1-P transferase 1", "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1" ], "gene_symbol": "DPAGT1", "hgnc_symbol": "DPAGT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118967213-118979041", "ensembl_id": "ENSG00000172269" } }, "GRch38": { "90": { "location": "11:119096503-119108331", "ensembl_id": "ENSG00000172269" } } }, "hgnc_date_symbol_changed": "1993-12-13" }, "entity_type": "gene", "entity_name": "DPAGT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12872255", "22492991", "22304930", "31153949", "30653653", "30117111", "22742743", "29356258", "28712839", "28662078" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ij, MIM# 608093", "DPAGT1-CDG MONDO:0011964", "Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750" ], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CMT2N", "AlaRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20", "gene_name": "alanyl-tRNA synthetase", "omim_gene": [ "601065" ], "alias_name": [ "alanine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "AARS", "hgnc_symbol": "AARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:70286198-70323446", "ensembl_id": "ENSG00000090861" } }, "GRch38": { "90": { "location": "16:70252295-70289543", "ensembl_id": "ENSG00000090861" } } }, "hgnc_date_symbol_changed": "1995-07-11" }, "entity_type": "gene", "entity_name": "AARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31775912", "28493438", "25817015", "20045102", "22009580", "22206013", "30373780", "26032230", "33909043" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 29, MIM# 616339", "Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287", "Spastic paraplegia 85, autosomal recessive, MIM# 619686", "Ataxia, sensory, 1, autosomal dominant, MIM# 608984", "Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661" ], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "P5CS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9722", "gene_name": "aldehyde dehydrogenase 18 family member A1", "omim_gene": [ "138250" ], "alias_name": null, "gene_symbol": "ALDH18A1", "hgnc_symbol": "ALDH18A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:97365696-97416463", "ensembl_id": "ENSG00000059573" } }, "GRch38": { "90": { "location": "10:95605929-95656706", "ensembl_id": "ENSG00000059573" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "gene", "entity_name": "ALDH18A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32221810", "11092761", "29754261", "26026163" ], "evidence": [ "Expert Review Green", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cutis laxa, autosomal recessive, type IIIA MIM#219150", "Spastic paraplegia 9A, autosomal dominant MIM#601162", "Spastic paraplegia 9B, autosomal recessive MIM#616586", "Cutis laxa, autosomal dominant 3 MIM#616603", "disorders of ornithine or proline metabolism" ], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12229", "COQ8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19041", "gene_name": "coenzyme Q8B", "omim_gene": [ "615567" ], "alias_name": null, "gene_symbol": "COQ8B", "hgnc_symbol": "COQ8B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:41197434-41224112", "ensembl_id": "ENSG00000123815" } }, "GRch38": { "90": { "location": "19:40691529-40718207", "ensembl_id": "ENSG00000123815" } } }, "hgnc_date_symbol_changed": "2016-07-07" }, "entity_type": "gene", "entity_name": "COQ8B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24270420", "39226897", "25967120" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nephrotic syndrome, type 9 MIM#615573", "Retinitis pigmentosa MONDO:0019200" ], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20577", "gene_name": "cytochrome P450 family 26 subfamily C member 1", "omim_gene": [ "608428" ], "alias_name": null, "gene_symbol": "CYP26C1", "hgnc_symbol": "CYP26C1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:94821021-94828454", "ensembl_id": "ENSG00000187553" } }, "GRch38": { "90": { "location": "10:93060808-93069536", "ensembl_id": "ENSG00000187553" } } }, "hgnc_date_symbol_changed": "2003-11-18" }, "entity_type": "gene", "entity_name": "CYP26C1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29263414", "23161670", "16530710" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Focal facial dermal dysplasia 4 MIM#614974" ], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4612", "gene_name": "goosecoid homeobox", "omim_gene": [ "138890" ], "alias_name": null, "gene_symbol": "GSC", "hgnc_symbol": "GSC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:95234553-95236562", "ensembl_id": "ENSG00000133937" } }, "GRch38": { "90": { "location": "14:94768216-94770230", "ensembl_id": "ENSG00000133937" } } }, "hgnc_date_symbol_changed": "1993-12-13" }, "entity_type": "gene", "entity_name": "GSC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24290375" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471" ], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HGK", "NIK", "FLH21957" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6866", "gene_name": "mitogen-activated protein kinase kinase kinase kinase 4", "omim_gene": [ "604666" ], "alias_name": [ "HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase" ], "gene_symbol": "MAP4K4", "hgnc_symbol": "MAP4K4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:102313312-102511149", "ensembl_id": "ENSG00000071054" } }, "GRch38": { "90": { "location": "2:101696850-101894689", "ensembl_id": "ENSG00000071054" } } }, "hgnc_date_symbol_changed": "1999-09-07" }, "entity_type": "gene", "entity_name": "MAP4K4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:40038", "gene_name": "PET100 homolog", "omim_gene": [ "614770" ], "alias_name": null, "gene_symbol": "PET100", "hgnc_symbol": "PET100", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:7694623-7696842", "ensembl_id": "ENSG00000229833" } }, "GRch38": { "90": { "location": "19:7629737-7631956", "ensembl_id": "ENSG00000229833" } } }, "hgnc_date_symbol_changed": "2012-06-25" }, "entity_type": "gene", "entity_name": "PET100", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24462369", "25293719", "31406627" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HN3", "PROS26" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9541", "gene_name": "proteasome subunit beta 4", "omim_gene": [ "602177" ], "alias_name": null, "gene_symbol": "PSMB4", "hgnc_symbol": "PSMB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:151372010-151374420", "ensembl_id": "ENSG00000159377" } }, "GRch38": { "90": { "location": "1:151399534-151401944", "ensembl_id": "ENSG00000159377" } } }, "hgnc_date_symbol_changed": "1995-05-03" }, "entity_type": "gene", "entity_name": "PSMB4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26524591" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CRTR", "CT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11055", "gene_name": "solute carrier family 6 member 8", "omim_gene": [ "300036" ], "alias_name": [ "creatine transporter" ], "gene_symbol": "SLC6A8", "hgnc_symbol": "SLC6A8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:152953554-152962048", "ensembl_id": "ENSG00000130821" } }, "GRch38": { "90": { "location": "X:153688099-153696593", "ensembl_id": "ENSG00000130821" } } }, "hgnc_date_symbol_changed": "1994-12-19" }, "entity_type": "gene", "entity_name": "SLC6A8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27604308", "16738945" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cerebral creatine deficiency syndrome 1, MIM# 300352" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EPM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3403", "gene_name": "syntaxin 2", "omim_gene": [ "132350" ], "alias_name": null, "gene_symbol": "STX2", "hgnc_symbol": "STX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:131274145-131323811", "ensembl_id": "ENSG00000111450" } }, "GRch38": { "90": { "location": "12:130789600-130839266", "ensembl_id": "ENSG00000111450" } } }, "hgnc_date_symbol_changed": "2006-04-25" }, "entity_type": "gene", "entity_name": "STX2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11460", "gene_name": "sulfite oxidase", "omim_gene": [ "606887" ], "alias_name": null, "gene_symbol": "SUOX", "hgnc_symbol": "SUOX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:56390964-56400425", "ensembl_id": "ENSG00000139531" } }, "GRch38": { "90": { "location": "12:55997180-56006641", "ensembl_id": "ENSG00000139531" } } }, "hgnc_date_symbol_changed": "1997-03-21" }, "entity_type": "gene", "entity_name": "SUOX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9428520", "15952210", "31127934" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Sulfite oxidase deficiency, MIM# 272300" ], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TRK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12012", "gene_name": "tropomyosin 3", "omim_gene": [ "191030" ], "alias_name": null, "gene_symbol": "TPM3", "hgnc_symbol": "TPM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:154127784-154167124", "ensembl_id": "ENSG00000143549" } }, "GRch38": { "90": { "location": "1:154155304-154194648", "ensembl_id": "ENSG00000143549" } } }, "hgnc_date_symbol_changed": "1991-07-18" }, "entity_type": "gene", "entity_name": "TPM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "26418456", "7704029", "17376686", "18382475", "19487656" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "CAP myopathy 1, MIM# 609284", "Myopathy, congenital, with fiber-type disproportion, MIM# 255310", "Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284", "Congenital muscle stiffness" ], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp586M121", "gp115" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19880", "gene_name": "elastin microfibril interfacer 1", "omim_gene": [ "130660" ], "alias_name": null, "gene_symbol": "EMILIN1", "hgnc_symbol": "EMILIN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:27301435-27309271", "ensembl_id": "ENSG00000138080" } }, "GRch38": { "90": { "location": "2:27078567-27086408", "ensembl_id": "ENSG00000138080" } } }, "hgnc_date_symbol_changed": "2003-07-16" }, "entity_type": "gene", "entity_name": "EMILIN1", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 31978608", "26462740", "36351433" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neuronopathy, distal hereditary motor, type X, MIM# 620080", "Arterial tortuosity-bone fragility syndrome, MIM#\t620908" ], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "D11S813E", "ASM", "ASM1", "NCRNA00008", "LINC00008" ], "biotype": "processed_transcript", "hgnc_id": "HGNC:4713", "gene_name": "H19, imprinted maternally expressed transcript (non-protein coding)", "omim_gene": [ "103280" ], "alias_name": [ "non-protein coding RNA 8", "long intergenic non-protein coding RNA 8" ], "gene_symbol": "H19", "hgnc_symbol": "H19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:2016406-2022700", "ensembl_id": "ENSG00000130600" } }, "GRch38": { "90": { "location": "11:1995163-2001470", "ensembl_id": "ENSG00000130600" } } }, "hgnc_date_symbol_changed": "1999-04-15" }, "entity_type": "gene", "entity_name": "H19", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20007505", "15743916", "23118352", "21863054", "21571108", "18245780", "24916376", "25943194" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation)", "Affected tissue: all", "Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)", "tags": [ "non-coding gene" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "OBF1", "BOB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9211", "gene_name": "POU class 2 associating factor 1", "omim_gene": [ "601206" ], "alias_name": null, "gene_symbol": "POU2AF1", "hgnc_symbol": "POU2AF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:111222977-111326355", "ensembl_id": "ENSG00000110777" } }, "GRch38": { "90": { "location": "11:111352252-111455630", "ensembl_id": "ENSG00000110777" } } }, "hgnc_date_symbol_changed": "1995-11-08" }, "entity_type": "gene", "entity_name": "POU2AF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33571536" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Agammaglobulinaemia, MONDO:0015977, POU2AF1-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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MRPS32", "MRP-L31", "RPML31", "PTD007", "HSPC204", "MRPL31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14493", "gene_name": "mitochondrial ribosomal protein L42", "omim_gene": [ "611847" ], "alias_name": [ "mitochondrial ribosomal protein S32" ], "gene_symbol": "MRPL42", "hgnc_symbol": "MRPL42", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:93861264-93897545", "ensembl_id": "ENSG00000198015" } }, "GRch38": { "90": { "location": "12:93467488-93516213", "ensembl_id": "ENSG00000198015" } } }, "hgnc_date_symbol_changed": "2001-01-26" }, "entity_type": "gene", "entity_name": "MRPL42", "confidence_level": "1", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Other" ], "phenotypes": [ "complex neurodevelopmental disorder MONDO:0100038" ], "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": "1.4799", "version_created": "2026-04-27T08:22:16.547117+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6016, "number_of_strs": 43, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "H-PAST", "HPAST1", "FLJ42622", "FLJ44618" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3242", "gene_name": "EH domain containing 1", "omim_gene": [ "605888" ], "alias_name": [ "testilin" ], "gene_symbol": "EHD1", "hgnc_symbol": "EHD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64619114-64655768", "ensembl_id": "ENSG00000110047" } }, "GRch38": { "90": { "location": "11:64851642-64888296", "ensembl_id": "ENSG00000110047" } } }, "hgnc_date_symbol_changed": "1999-08-11" }, "entity_type": "gene", "entity_name": "EHD1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35149593" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Inherited renal tubular disease, MONDO:0015962, EHD1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 144, "hash_id": null, "name": "Proteinuria", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.", "status": "public", "version": "0.239", "version_created": "2026-03-12T18:51:41.043263+11:00", "relevant_disorders": [ "Proteinuria HP:0000093" ], "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": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PJS", "LKB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11389", "gene_name": "serine/threonine kinase 11", "omim_gene": [ "602216" ], "alias_name": [ "polarization-related protein LKB1" ], "gene_symbol": "STK11", "hgnc_symbol": "STK11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:1189406-1228428", "ensembl_id": "ENSG00000118046" } }, "GRch38": { "90": { "location": "19:1177558-1228435", "ensembl_id": "ENSG00000118046" } } }, "hgnc_date_symbol_changed": "1998-01-21" }, "entity_type": "gene", "entity_name": "STK11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 152, "hash_id": null, "name": "Cancer Predisposition_Paediatric", "disease_group": "Cancer", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.133", "version_created": "2026-01-12T09:35:45.797477+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 106, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARS", "ANUP", "MDM", "ArsB", "LY6LS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18746", "gene_name": "secreted LY6/PLAUR domain containing 1", "omim_gene": [ "606119" ], "alias_name": [ "lymphocyte antigen 6-like secreted", "ARS component B" ], "gene_symbol": "SLURP1", "hgnc_symbol": "SLURP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:143822362-143823829", "ensembl_id": "ENSG00000126233" } }, "GRch38": { "90": { "location": "8:142740944-142742411", "ensembl_id": "ENSG00000126233" } } }, "hgnc_date_symbol_changed": "2004-11-16" }, "entity_type": "gene", "entity_name": "SLURP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14674887", "32157724", "12483299", "14756676" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Meleda disease (MIM#248300)" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NAK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11584", "gene_name": "TANK binding kinase 1", "omim_gene": [ "604834" ], "alias_name": null, "gene_symbol": "TBK1", "hgnc_symbol": "TBK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:64845660-64895888", "ensembl_id": "ENSG00000183735" } }, "GRch38": { "90": { "location": "12:64451880-64502108", "ensembl_id": "ENSG00000183735" } } }, "hgnc_date_symbol_changed": "2000-06-08" }, "entity_type": "gene", "entity_name": "TBK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "38168426", "38517332", "29884839" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "frontotemporal dementia with motor neuron disease MONDO:0017161", "Disorders of autophagy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "OSMRB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8507", "gene_name": "oncostatin M receptor", "omim_gene": [ "601743" ], "alias_name": null, "gene_symbol": "OSMR", "hgnc_symbol": "OSMR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:38845960-38945698", "ensembl_id": "ENSG00000145623" } }, "GRch38": { "90": { "location": "5:38845858-38945596", "ensembl_id": "ENSG00000145623" } } }, "hgnc_date_symbol_changed": "1999-02-17" }, "entity_type": "gene", "entity_name": "OSMR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19375894", "19528426", "25054142", "20507362", "19690585" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "primary cutaneous amyloidosis MONDO:0015301" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 191, "hash_id": null, "name": "Amyloidosis", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes that cause amyloidosis, characterised by a buildup of abnormal amyloid deposits in the heart, brain, kidneys, spleen and other parts of the body.\r\n\r\nThe panel was originally named \"Renal Amyloidosis\" and was developed by the KidGen Collaborative. It is also a consensus panel used by VCGS and RMH.", "status": "public", "version": "1.1", "version_created": "2025-07-04T20:21:06.835536+10:00", "relevant_disorders": [ "Renal amyloidosis", "HP:0001917; Amyloidosis", "HP:0011034" ], "stats": { "number_of_genes": 11, "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": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "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:29170", "gene_name": "FANCD2 and FANCI associated nuclease 1", "omim_gene": [ "613534" ], "alias_name": null, "gene_symbol": "FAN1", "hgnc_symbol": "FAN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:31196055-31235311", "ensembl_id": "ENSG00000198690" } }, "GRch38": { "90": { "location": "15:30903852-30943108", "ensembl_id": "ENSG00000198690" } } }, "hgnc_date_symbol_changed": "2010-08-04" }, "entity_type": "gene", "entity_name": "FAN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PubMed: 22772369", "16678356", "7847351", "8546134" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Interstitial nephritis, karyomegalic, MIM# 614817" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 193, "hash_id": null, "name": "Renal Ciliopathies and Nephronophthisis", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen", "status": "public", "version": "1.53", "version_created": "2026-03-19T17:14:29.802874+11:00", "relevant_disorders": [ "Abnormality of renal medullary morphology", "HP:0025361; Renal cyst", "HP:0000107" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ME2", "HFMI2", "FMI2", "CDHF9", "ADGRC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1850", "gene_name": "cadherin EGF LAG seven-pass G-type receptor 1", "omim_gene": [ "604523" ], "alias_name": [ "flamingo homolog 2 (Drosophila)", "adhesion G protein-coupled receptor C1" ], "gene_symbol": "CELSR1", "hgnc_symbol": "CELSR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:46756731-46933067", "ensembl_id": "ENSG00000075275" } }, "GRch38": { "90": { "location": "22:46360834-46537170", "ensembl_id": "ENSG00000075275" } } }, "hgnc_date_symbol_changed": "2000-02-14" }, "entity_type": "gene", "entity_name": "CELSR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41530147", "36453712" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO:0700092), CELSR1-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": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "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": [ "DKFZP566N034", "SV31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25380", "gene_name": "transmembrane protein 163", "omim_gene": null, "alias_name": null, "gene_symbol": "TMEM163", "hgnc_symbol": "TMEM163", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:135213330-135476570", "ensembl_id": "ENSG00000152128" } }, "GRch38": { "90": { "location": "2:134455759-134719000", "ensembl_id": "ENSG00000152128" } } }, "hgnc_date_symbol_changed": "2006-07-04" }, "entity_type": "gene", "entity_name": "TMEM163", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35953447", "35455965" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hypomyelinating leukodystrophy, MONDO:0019046" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12382", "gene_name": "TSPY like 1", "omim_gene": [ "604714" ], "alias_name": null, "gene_symbol": "TSPYL1", "hgnc_symbol": "TSPYL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:116597741-116601066", "ensembl_id": "ENSG00000189241" } }, "GRch38": { "90": { "location": "6:116276578-116279903", "ensembl_id": "ENSG00000189241" } } }, "hgnc_date_symbol_changed": "2004-04-07" }, "entity_type": "gene", "entity_name": "TSPYL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32885560", "15273283", "33075815", "36082874" ], "evidence": [ "Expert Review Green", "Literature", "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Sudden infant death with dysgenesis of the testes syndrome - 608800", "sudden infant death-dysgenesis of the testes syndrome MONDO:0012124" ], "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": "1.412", "version_created": "2026-04-26T17:44:15.608548+10:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1155, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "POLG1", "POLGA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9179", "gene_name": "DNA polymerase gamma, catalytic subunit", "omim_gene": [ "174763" ], "alias_name": null, "gene_symbol": "POLG", "hgnc_symbol": "POLG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:89859534-89878092", "ensembl_id": "ENSG00000140521" } }, "GRch38": { "90": { "location": "15:89305198-89334861", "ensembl_id": "ENSG00000140521" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "POLG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30451971" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700", "Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662", "Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459", "Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450" ], "mode_of_inheritance": "BOTH monoallelic and 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": null }, { "gene_data": { "alias": [ "FLJ22609" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26208", "gene_name": "NOP2/Sun RNA methyltransferase family member 3", "omim_gene": [ "617491" ], "alias_name": null, "gene_symbol": "NSUN3", "hgnc_symbol": "NSUN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:93781760-93847389", "ensembl_id": "ENSG00000178694" } }, "GRch38": { "90": { "location": "3:94062916-94128545", "ensembl_id": "ENSG00000178694" } } }, "hgnc_date_symbol_changed": "2004-08-25" }, "entity_type": "gene", "entity_name": "NSUN3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27356879", "32488845", "40465263" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 48, MIM# 619012" ], "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": [ "FLJ33817", "PPP1R166", "CAMRQ2", "SORF-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26600", "gene_name": "WD repeat domain 81", "omim_gene": [ "614218" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 166" ], "gene_symbol": "WDR81", "hgnc_symbol": "WDR81", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:1619817-1641893", "ensembl_id": "ENSG00000167716" } }, "GRch38": { "90": { "location": "17:1716523-1738599", "ensembl_id": "ENSG00000167716" } } }, "hgnc_date_symbol_changed": "2005-12-16" }, "entity_type": "gene", "entity_name": "WDR81", "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": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ASP", "ACY2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:756", "gene_name": "aspartoacylase", "omim_gene": [ "608034" ], "alias_name": [ "aminoacylase 2", "Canavan disease" ], "gene_symbol": "ASPA", "hgnc_symbol": "ASPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:3375668-3406713", "ensembl_id": "ENSG00000108381" } }, "GRch38": { "90": { "location": "17:3472374-3503419", "ensembl_id": "ENSG00000108381" } } }, "hgnc_date_symbol_changed": "1993-12-09" }, "entity_type": "gene", "entity_name": "ASPA", "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": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CLC-6", "KIAA0046", "ClC-6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2024", "gene_name": "chloride voltage-gated channel 6", "omim_gene": [ "602726" ], "alias_name": null, "gene_symbol": "CLCN6", "hgnc_symbol": "CLCN6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:11866207-11903201", "ensembl_id": "ENSG00000011021" } }, "GRch38": { "90": { "location": "1:11806096-11843144", "ensembl_id": "ENSG00000011021" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "CLCN6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33217309" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodegeneration with brain iron accumulation 5, MIM#\t300894" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CD122" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6009", "gene_name": "interleukin 2 receptor subunit beta", "omim_gene": [ "146710" ], "alias_name": null, "gene_symbol": "IL2RB", "hgnc_symbol": "IL2RB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:37521878-37571094", "ensembl_id": "ENSG00000100385" } }, "GRch38": { "90": { "location": "22:37125838-37175054", "ensembl_id": "ENSG00000100385" } } }, "hgnc_date_symbol_changed": "1990-01-22" }, "entity_type": "gene", "entity_name": "IL2RB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31040184", "31040185" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM#\t618495", "Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 229, "hash_id": null, "name": "Disorders of immune dysregulation", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.43", "version_created": "2026-04-06T13:01:39.255117+10:00", "relevant_disorders": [ "Immune dysregulation", "HP:0002958" ], "stats": { "number_of_genes": 118, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PLSTIRE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1777", "gene_name": "cyclin dependent kinase 6", "omim_gene": [ "603368" ], "alias_name": null, "gene_symbol": "CDK6", "hgnc_symbol": "CDK6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:92234235-92465908", "ensembl_id": "ENSG00000105810" } }, "GRch38": { "90": { "location": "7:92604921-92836594", "ensembl_id": "ENSG00000105810" } } }, "hgnc_date_symbol_changed": "1994-02-14" }, "entity_type": "gene", "entity_name": "CDK6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23918663", "40801391" ], "evidence": [ "Expert Review Amber", "Genetic Health Queensland" ], "phenotypes": [ "Microcephaly 12, primary, autosomal recessive, MIM#616080" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "DIC74" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2964", "gene_name": "dynein cytoplasmic 1 intermediate chain 2", "omim_gene": [ "603331" ], "alias_name": null, "gene_symbol": "DYNC1I2", "hgnc_symbol": "DYNC1I2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:172543919-172604930", "ensembl_id": "ENSG00000077380" } }, "GRch38": { "90": { "location": "2:171687409-171748420", "ensembl_id": "ENSG00000077380" } } }, "hgnc_date_symbol_changed": "2005-11-24" }, "entity_type": "gene", "entity_name": "DYNC1I2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31079899" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly and structural brain anomalies\t, MIM#618492" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "CEZANNE2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20718", "gene_name": "OTU deubiquitinase 7A", "omim_gene": [ "612024" ], "alias_name": null, "gene_symbol": "OTUD7A", "hgnc_symbol": "OTUD7A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:31775329-32162992", "ensembl_id": "ENSG00000169918" } }, "GRch38": { "90": { "location": "15:31475398-31870789", "ensembl_id": "ENSG00000169918" } } }, "hgnc_date_symbol_changed": "2006-07-07" }, "entity_type": "gene", "entity_name": "OTUD7A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31997314", "29395075", "29395074", "33381903", "36180924", "41028987" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "SEN2", "SEN2L", "MGC2776" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28422", "gene_name": "tRNA splicing endonuclease subunit 2", "omim_gene": [ "608753" ], "alias_name": null, "gene_symbol": "TSEN2", "hgnc_symbol": "TSEN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:12525931-12581122", "ensembl_id": "ENSG00000154743" } }, "GRch38": { "90": { "location": "3:12484432-12539623", "ensembl_id": "ENSG00000154743" } } }, "hgnc_date_symbol_changed": "2005-03-07" }, "entity_type": "gene", "entity_name": "TSEN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23562994", "20952379" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Pontocerebellar hypoplasia type 2B, MIM# 612389" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "PKU-ALPHA", "MGC44450" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11842", "gene_name": "tousled like kinase 2", "omim_gene": [ "608439" ], "alias_name": null, "gene_symbol": "TLK2", "hgnc_symbol": "TLK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:60536019-60692842", "ensembl_id": "ENSG00000146872" } }, "GRch38": { "90": { "location": "17:62458658-62615481", "ensembl_id": "ENSG00000146872" } } }, "hgnc_date_symbol_changed": "2000-01-07" }, "entity_type": "gene", "entity_name": "TLK2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29861108", "29942082", "27479843", "23911319", "30559488", "29942082", "31558842" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "Intellectual disability, MIM 618050", "Neurodevelopmental disease" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "KEN", "KIAA0402", "PCN", "PCNTB", "SCKL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16068", "gene_name": "pericentrin", "omim_gene": [ "605925" ], "alias_name": [ "kendrin", "Seckel syndrome 4" ], "gene_symbol": "PCNT", "hgnc_symbol": "PCNT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:47744036-47865682", "ensembl_id": "ENSG00000160299" } }, "GRch38": { "90": { "location": "21:46324122-46445769", "ensembl_id": "ENSG00000160299" } } }, "hgnc_date_symbol_changed": "2005-11-03" }, "entity_type": "gene", "entity_name": "PCNT", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34978779" ], "evidence": [ "Expert Review Amber", "Genetic Health Queensland" ], "phenotypes": [ "Microcephalic osteodysplastic primordial dwarfism, type II MIM#210720" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "LR3", "BMND1", "HBM", "OPS", "OPTA1", "VBCH2", "EVR4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6697", "gene_name": "LDL receptor related protein 5", "omim_gene": [ "603506" ], "alias_name": null, "gene_symbol": "LRP5", "hgnc_symbol": "LRP5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:68080077-68216743", "ensembl_id": "ENSG00000162337" } }, "GRch38": { "90": { "location": "11:68312609-68449275", "ensembl_id": "ENSG00000162337" } } }, "hgnc_date_symbol_changed": "1998-04-07" }, "entity_type": "gene", "entity_name": "LRP5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Exudative vitreoretinopathy 4, MIM# 601813", "Hyperostosis, endosteal, MIM# 144750", "Osteopetrosis, autosomal dominant 1, MIM# 607634", "Osteoporosis-pseudoglioma syndrome, MIM# 259770", "Osteosclerosis, MIM# 144750", "Polycystic liver disease 4 with or without kidney cysts, MIM# 617875", "van Buchem disease, type 2 607636" ], "mode_of_inheritance": "BOTH monoallelic and 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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "FCP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2498", "gene_name": "CTD phosphatase subunit 1", "omim_gene": [ "604927" ], "alias_name": null, "gene_symbol": "CTDP1", "hgnc_symbol": "CTDP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:77439801-77514510", "ensembl_id": "ENSG00000060069" } }, "GRch38": { "90": { "location": "18:79679801-79756623", "ensembl_id": "ENSG00000060069" } } }, "hgnc_date_symbol_changed": "1999-02-09" }, "entity_type": "gene", "entity_name": "CTDP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301787" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland" ], "phenotypes": [ "congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0011402" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "DMC1", "HID-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15736", "gene_name": "HID1 domain containing", "omim_gene": [ "605752" ], "alias_name": [ "downregulated in multiple cancer 1" ], "gene_symbol": "HID1", "hgnc_symbol": "HID1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:72946838-72969261", "ensembl_id": "ENSG00000167861" } }, "GRch38": { "90": { "location": "17:74950743-74973166", "ensembl_id": "ENSG00000167861" } } }, "hgnc_date_symbol_changed": "2012-10-10" }, "entity_type": "gene", "entity_name": "HID1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33999436" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "CaMK-GR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1464", "gene_name": "calcium/calmodulin dependent protein kinase IV", "omim_gene": [ "114080" ], "alias_name": [ "brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR" ], "gene_symbol": "CAMK4", "hgnc_symbol": "CAMK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:110559351-110830584", "ensembl_id": "ENSG00000152495" } }, "GRch38": { "90": { "location": "5:111223653-111494886", "ensembl_id": "ENSG00000152495" } } }, "hgnc_date_symbol_changed": "1989-05-24" }, "entity_type": "gene", "entity_name": "CAMK4", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "30262571", "33098801", "33211350" ], "evidence": [ "Expert Review Green", "Other", "Literature" ], "phenotypes": [ "Global developmental delay", "Intellectual disability", "Autism", "Behavioral abnormality", "Abnormality of movement", "Dystonia", "Ataxia", "Chorea", "Myoclonus" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "brPTB", "nPTB", "PTB", "PTBLP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17662", "gene_name": "polypyrimidine tract binding protein 2", "omim_gene": [ "608449" ], "alias_name": null, "gene_symbol": "PTBP2", "hgnc_symbol": "PTBP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:97187221-97289294", "ensembl_id": "ENSG00000117569" } }, "GRch38": { "90": { "location": "1:96721665-96823738", "ensembl_id": "ENSG00000117569" } } }, "hgnc_date_symbol_changed": "2002-01-25" }, "entity_type": "gene", "entity_name": "PTBP2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40965981" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO:0700092), PTBP2-related" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "PI31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9571", "gene_name": "proteasome inhibitor subunit 1", "omim_gene": null, "alias_name": [ "proteasome inhibitor hP131 subunit" ], "gene_symbol": "PSMF1", "hgnc_symbol": "PSMF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:1093906-1160596", "ensembl_id": "ENSG00000125818" } }, "GRch38": { "90": { "location": "20:1113263-1189415", "ensembl_id": "ENSG00000125818" } } }, "hgnc_date_symbol_changed": "1999-04-15" }, "entity_type": "gene", "entity_name": "PSMF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related" ], "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": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "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": [ "MGC131950", "MGC138321", "MGC138323" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12782", "gene_name": "Wnt family member 3", "omim_gene": [ "165330" ], "alias_name": [ "WNT-3 proto-oncogene protein" ], "gene_symbol": "WNT3", "hgnc_symbol": "WNT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:44839872-44910520", "ensembl_id": "ENSG00000108379" } }, "GRch38": { "90": { "location": "17:46762506-46833154", "ensembl_id": "ENSG00000108379" } } }, "hgnc_date_symbol_changed": "1989-05-30" }, "entity_type": "gene", "entity_name": "WNT3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14872406" ], "evidence": [ "Expert Review Red", "Illumina TruGenome Clinical Sequencing Services", "Expert Review Red", "UKGTN", "Radboud University Medical Center, Nijmegen", "NHS GMS", "Expert list", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Tetra-amelia syndrome 273395" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "B9", "EPPB9", "MKS9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24123", "gene_name": "B9 domain containing 1", "omim_gene": [ "614144" ], "alias_name": [ "endothelial precursor protein B9" ], "gene_symbol": "B9D1", "hgnc_symbol": "B9D1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:19240867-19281495", "ensembl_id": "ENSG00000108641" } }, "GRch38": { "90": { "location": "17:19337554-19378182", "ensembl_id": "ENSG00000108641" } } }, "hgnc_date_symbol_changed": "2007-08-21" }, "entity_type": "gene", "entity_name": "B9D1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24886560", "21493627", "25920555", "40565534", "40933483" ], "evidence": [ "Expert Review Green", "Illumina TruGenome Clinical Sequencing Services", "UKGTN", "Radboud University Medical Center, Nijmegen", "NHS GMS", "Expert list", "Emory Genetics Laboratory", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliopathy, MONDO:0005308, B9D1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP686C2281", "FLJ45135", "MGC125288", "MGC125289" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3768", "gene_name": "formin 1", "omim_gene": [ "136535" ], "alias_name": [ "limb deformity protein" ], "gene_symbol": "FMN1", "hgnc_symbol": "FMN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:33057747-33486897", "ensembl_id": "ENSG00000248905" } }, "GRch38": { "90": { "location": "15:32765545-33194733", "ensembl_id": "ENSG00000248905" } } }, "hgnc_date_symbol_changed": "2005-01-22" }, "entity_type": "gene", "entity_name": "FMN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Literature", "Expert Review Red", "Expert list", "Emory Genetics Laboratory", "UKGTN" ], "phenotypes": [ "Animal models with skeletal dysplastic phenotypes" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:144", "gene_name": "actin gamma 1", "omim_gene": [ "102560" ], "alias_name": null, "gene_symbol": "ACTG1", "hgnc_symbol": "ACTG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:79476997-79490873", "ensembl_id": "ENSG00000184009" } }, "GRch38": { "90": { "location": "17:81509971-81523847", "ensembl_id": "ENSG00000184009" } } }, "hgnc_date_symbol_changed": "1988-06-27" }, "entity_type": "gene", "entity_name": "ACTG1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "PMID: 28000701, PMID 34448047, PMID 39734360" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Retinitis pigmentosa MONDO:0019200, ACTG1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ33496", "KIAA1843", "UNC-80" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26582", "gene_name": "unc-80 homolog, NALCN channel complex subunit", "omim_gene": [ "612636" ], "alias_name": null, "gene_symbol": "UNC80", "hgnc_symbol": "UNC80", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:210636717-210864024", "ensembl_id": "ENSG00000144406" } }, "GRch38": { "90": { "location": "2:209771993-209999300", "ensembl_id": "ENSG00000144406" } } }, "hgnc_date_symbol_changed": "2009-08-17" }, "entity_type": "gene", "entity_name": "UNC80", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26545877" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801", "MONDO:0014777" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.344", "version_created": "2026-04-06T11:07:45.734922+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SVMT", "SVAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10935", "gene_name": "solute carrier family 18 member A2", "omim_gene": [ "193001" ], "alias_name": null, "gene_symbol": "SLC18A2", "hgnc_symbol": "SLC18A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:119000604-119038941", "ensembl_id": "ENSG00000165646" } }, "GRch38": { "90": { "location": "10:117241093-117279430", "ensembl_id": "ENSG00000165646" } } }, "hgnc_date_symbol_changed": "1994-05-25" }, "entity_type": "gene", "entity_name": "SLC18A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23363473", "31240161", "26497564" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Parkinsonism-dystonia, infantile, 2, MIM#\t618049" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 290, "hash_id": null, "name": "Dystonia and Chorea", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.", "status": "public", "version": "0.344", "version_created": "2026-04-06T11:07:45.734922+10:00", "relevant_disorders": [ "Dystonia", "HP:0001332; Chorea", "HP:0002072" ], "stats": { "number_of_genes": 198, "number_of_strs": 9, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CMT2N", "AlaRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20", "gene_name": "alanyl-tRNA synthetase", "omim_gene": [ "601065" ], "alias_name": [ "alanine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "AARS", "hgnc_symbol": "AARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:70286198-70323446", "ensembl_id": "ENSG00000090861" } }, "GRch38": { "90": { "location": "16:70252295-70289543", "ensembl_id": "ENSG00000090861" } } }, "hgnc_date_symbol_changed": "1995-07-11" }, "entity_type": "gene", "entity_name": "AARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28493438", "25817015" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Epileptic encephalopathy, early infantile, 29, MIM#616339" ], "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": [ "HU-K4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17158", "gene_name": "phospholipase D family member 3", "omim_gene": [ "615698" ], "alias_name": null, "gene_symbol": "PLD3", "hgnc_symbol": "PLD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:40854363-40886346", "ensembl_id": "ENSG00000105223" } }, "GRch38": { "90": { "location": "19:40348456-40380439", "ensembl_id": "ENSG00000105223" } } }, "hgnc_date_symbol_changed": "2003-01-06" }, "entity_type": "gene", "entity_name": "PLD3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 34267643" ], "evidence": [ "Literature", "Expert Review Amber", "Literature" ], "phenotypes": [ "Leukodystrophy" ], "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": [ "PCN", "PLTN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9069", "gene_name": "plectin", "omim_gene": [ "601282" ], "alias_name": null, "gene_symbol": "PLEC", "hgnc_symbol": "PLEC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:144989321-145050902", "ensembl_id": "ENSG00000178209" } }, "GRch38": { "90": { "location": "8:143915147-143976734", "ensembl_id": "ENSG00000178209" } } }, "hgnc_date_symbol_changed": "2010-02-04" }, "entity_type": "gene", "entity_name": "PLEC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22144912" ], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review Green", "Expert Review", "Royal Melbourne Hospital" ], "phenotypes": [ "Muscular dystrophy with epidermolysis bullosa simplex, 226670" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4922", "gene_name": "hexokinase 1", "omim_gene": [ "142600" ], "alias_name": null, "gene_symbol": "HK1", "hgnc_symbol": "HK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:71029740-71161638", "ensembl_id": "ENSG00000156515" } }, "GRch38": { "90": { "location": "10:69269984-69401882", "ensembl_id": "ENSG00000156515" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Neuropathy, hereditary motor and sensory, Russe type, 605285 (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": [ "Ly74", "TROP1", "GA733-2", "EGP34", "EGP40", "EGP-2", "KSA", "CD326", "Ep-CAM", "HEA125", "KS1/4", "MK-1", "MH99", "MOC31", "323/A3", "17-1A", "TACST-1", "CO-17A", "ESA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11529", "gene_name": "epithelial cell adhesion molecule", "omim_gene": [ "185535" ], "alias_name": null, "gene_symbol": "EPCAM", "hgnc_symbol": "EPCAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:47572297-47614740", "ensembl_id": "ENSG00000119888" } }, "GRch38": { "90": { "location": "2:47345158-47387601", "ensembl_id": "ENSG00000119888" } } }, "hgnc_date_symbol_changed": "2008-12-16" }, "entity_type": "gene", "entity_name": "EPCAM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Diarrhea 5, with tufting enteropathy, congenital, 613217 (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:22788", "gene_name": "FEZ family zinc finger 1", "omim_gene": [ "613301" ], "alias_name": null, "gene_symbol": "FEZF1", "hgnc_symbol": "FEZF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:121941448-121950745", "ensembl_id": "ENSG00000128610" } }, "GRch38": { "90": { "location": "7:122301394-122310691", "ensembl_id": "ENSG00000128610" } } }, "hgnc_date_symbol_changed": "2006-08-15" }, "entity_type": "gene", "entity_name": "FEZF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Royal Melbourne Hospital" ], "phenotypes": [ "Hypogonadotropic hypogonadism 22, with or without anosmia 616030" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.414", "version_created": "2026-04-13T17:24:24.650771+10:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 164, "number_of_strs": 2, "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": "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": [ "Ringo2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32681", "gene_name": "speedy/RINGO cell cycle regulator family member C", "omim_gene": [ "614030" ], "alias_name": null, "gene_symbol": "SPDYC", "hgnc_symbol": "SPDYC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64937625-64940715", "ensembl_id": "ENSG00000204710" } }, "GRch38": { "90": { "location": "11:65170154-65173244", "ensembl_id": "ENSG00000204710" } } }, "hgnc_date_symbol_changed": "2006-03-31" }, "entity_type": "gene", "entity_name": "SPDYC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41005306" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Primary ovarian failure, MONDO:0005387" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3166, "hash_id": null, "name": "Primary Ovarian Insufficiency_Premature Ovarian Failure", "disease_group": "Endocrine disorders", "disease_sub_group": "Gonadal and sex development disorders", "description": "This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.", "status": "public", "version": "0.414", "version_created": "2026-04-13T17:24:24.650771+10:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 164, "number_of_strs": 2, "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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CAC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1421", "gene_name": "solute carrier family 25 member 20", "omim_gene": [ "613698" ], "alias_name": [ "carnitine-acylcarnitine carrier", "carnitine/acylcarnitine translocase" ], "gene_symbol": "SLC25A20", "hgnc_symbol": "SLC25A20", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:48894369-48936426", "ensembl_id": "ENSG00000178537" } }, "GRch38": { "90": { "location": "3:48856931-48898993", "ensembl_id": "ENSG00000178537" } } }, "hgnc_date_symbol_changed": "1997-08-18" }, "entity_type": "gene", "entity_name": "SLC25A20", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27604308" ], "evidence": [ "Expert Review Green", "MetBioNet", "South West GLH", "NHS GMS" ], "phenotypes": [ "Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia", "Carnitine-acylcarnitine translocase deficiency 212138", "Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)", "Carnitine acylcarnitines translocase deficiency CAT", "HCM, DCM" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZO-2", "X104", "ZO2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11828", "gene_name": "tight junction protein 2", "omim_gene": [ "607709" ], "alias_name": [ "Friedreich ataxia region gene X104 (tight junction protein ZO-2)", "zona occludens 2" ], "gene_symbol": "TJP2", "hgnc_symbol": "TJP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:71736209-71870124", "ensembl_id": "ENSG00000119139" } }, "GRch38": { "90": { "location": "9:69121264-69255208", "ensembl_id": "ENSG00000119139" } } }, "hgnc_date_symbol_changed": "1999-07-01" }, "entity_type": "gene", "entity_name": "TJP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene" ], "phenotypes": [ "Hypercholanemia, familial" ], "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": [ "ACTSA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:130", "gene_name": "actin, alpha 2, smooth muscle, aorta", "omim_gene": [ "102620" ], "alias_name": null, "gene_symbol": "ACTA2", "hgnc_symbol": "ACTA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:90694831-90751147", "ensembl_id": "ENSG00000107796" } }, "GRch38": { "90": { "location": "10:88935074-88991339", "ensembl_id": "ENSG00000107796" } } }, "hgnc_date_symbol_changed": "1989-12-07" }, "entity_type": "gene", "entity_name": "ACTA2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "BabySeq Category B gene" ], "phenotypes": [ "Aortic aneurysm, familial thoracic" ], "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": [ "CDHR23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13733", "gene_name": "cadherin related 23", "omim_gene": [ "605516" ], "alias_name": [ "cadherin-related family member 23" ], "gene_symbol": "CDH23", "hgnc_symbol": "CDH23", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73156691-73575702", "ensembl_id": "ENSG00000107736" } }, "GRch38": { "90": { "location": "10:71396934-71815947", "ensembl_id": "ENSG00000107736" } } }, "hgnc_date_symbol_changed": "2000-10-19" }, "entity_type": "gene", "entity_name": "CDH23", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Usher syndrome, type 1D", "Deafness, autosomal recessive" ], "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": [ "GLUT10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13444", "gene_name": "solute carrier family 2 member 10", "omim_gene": [ "606145" ], "alias_name": null, "gene_symbol": "SLC2A10", "hgnc_symbol": "SLC2A10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:45338126-45364965", "ensembl_id": "ENSG00000197496" } }, "GRch38": { "90": { "location": "20:46709487-46736347", "ensembl_id": "ENSG00000197496" } } }, "hgnc_date_symbol_changed": "2001-04-02" }, "entity_type": "gene", "entity_name": "SLC2A10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category A gene", "Expert Review Green" ], "phenotypes": [ "Arterial tortuosity syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ40629", "radmis" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26877", "gene_name": "cytoskeleton associated protein 2 like", "omim_gene": [ "616174" ], "alias_name": [ "radial fiber and mitotic spindle" ], "gene_symbol": "CKAP2L", "hgnc_symbol": "CKAP2L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:113493930-113522254", "ensembl_id": "ENSG00000169607" } }, "GRch38": { "90": { "location": "2:112736607-112764677", "ensembl_id": "ENSG00000169607" } } }, "hgnc_date_symbol_changed": "2006-03-24" }, "entity_type": "gene", "entity_name": "CKAP2L", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12416644", "15365457" ], "evidence": [ "Radboud University Medical Center, Nijmegen", "Expert list" ], "phenotypes": [ "Filippi syndrome, 272440" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.316", "version_created": "2026-04-27T08:25:41.122057+10:00", "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": [ "LERK2", "Elk-L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3226", "gene_name": "ephrin B1", "omim_gene": [ "300035" ], "alias_name": null, "gene_symbol": "EFNB1", "hgnc_symbol": "EFNB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:68048840-68061990", "ensembl_id": "ENSG00000090776" } }, "GRch38": { "90": { "location": "X:68828997-68842147", "ensembl_id": "ENSG00000090776" } } }, "hgnc_date_symbol_changed": "1995-01-17" }, "entity_type": "gene", "entity_name": "EFNB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "CRANIOFRONTONASAL SYNDROME", "CFNS" ], "mode_of_inheritance": "Other", "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": "0.316", "version_created": "2026-04-27T08:25:41.122057+10:00", "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": [ "LIN2", "CAGH39", "FGS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1497", "gene_name": "calcium/calmodulin dependent serine protein kinase", "omim_gene": [ "300172" ], "alias_name": null, "gene_symbol": "CASK", "hgnc_symbol": "CASK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:41374187-41782716", "ensembl_id": "ENSG00000147044" } }, "GRch38": { "90": { "location": "X:41514934-41923463", "ensembl_id": "ENSG00000147044" } } }, "hgnc_date_symbol_changed": "1998-09-25" }, "entity_type": "gene", "entity_name": "CASK", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red" ], "phenotypes": [ "MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA", "MICPCH" ], "mode_of_inheritance": "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": "0.316", "version_created": "2026-04-27T08:25:41.122057+10:00", "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": [ "MGC3222", "DKFZp586G1919", "LUMA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28472", "gene_name": "transmembrane protein 43", "omim_gene": [ "612048" ], "alias_name": null, "gene_symbol": "TMEM43", "hgnc_symbol": "TMEM43", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:14166440-14185179", "ensembl_id": "ENSG00000170876" } }, "GRch38": { "90": { "location": "3:14124940-14143679", "ensembl_id": "ENSG00000170876" } } }, "hgnc_date_symbol_changed": "2005-01-24" }, "entity_type": "gene", "entity_name": "TMEM43", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "NSW Health Pathology" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3437, "hash_id": null, "name": "Incidentalome_PREGEN_DRAFT", "disease_group": "", "disease_sub_group": "", "description": "Imported to facilitate update work. Do not use while labeled as DRAFT", "status": "public", "version": "0.43", "version_created": "2021-01-20T16:42:09.286633+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 173, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2860", "gene_name": "7-dehydrocholesterol reductase", "omim_gene": [ "602858" ], "alias_name": null, "gene_symbol": "DHCR7", "hgnc_symbol": "DHCR7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:71139239-71163914", "ensembl_id": "ENSG00000172893" } }, "GRch38": { "90": { "location": "11:71428193-71452868", "ensembl_id": "ENSG00000172893" } } }, "hgnc_date_symbol_changed": "1998-04-27" }, "entity_type": "gene", "entity_name": "DHCR7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "7560069", "9634533" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Smith-Lemli-Opitz syndrome MIM#270400", "Disorders of sterol biosynthesis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7881", "gene_name": "notch 1", "omim_gene": [ "190198" ], "alias_name": null, "gene_symbol": "NOTCH1", "hgnc_symbol": "NOTCH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139388896-139440314", "ensembl_id": "ENSG00000148400" } }, "GRch38": { "90": { "location": "9:136494444-136545862", "ensembl_id": "ENSG00000148400" } } }, "hgnc_date_symbol_changed": "1992-02-13" }, "entity_type": "gene", "entity_name": "NOTCH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "Limb, scalp and skull defects", "AOS", "Adams-Oliver syndrome 5, 616028", "Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": [ "PTHRP", "HHM", "PLP", "PTHR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9607", "gene_name": "parathyroid hormone like hormone", "omim_gene": [ "168470" ], "alias_name": [ "osteostatin", "parathyroid hormone-like hormone preproprotein", "parathyroid hormone-related protein preproprotein" ], "gene_symbol": "PTHLH", "hgnc_symbol": "PTHLH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:28111017-28125638", "ensembl_id": "ENSG00000087494" } }, "GRch38": { "90": { "location": "12:27958084-27972705", "ensembl_id": "ENSG00000087494" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PTHLH", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Brachydactyly, type E2, MIM# 613382" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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": [ "SNAP-25", "RIC-4", "RIC4", "SEC9", "bA416N4.2", "dJ1068F16.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11132", "gene_name": "synaptosome associated protein 25", "omim_gene": [ "600322" ], "alias_name": [ "resistance to inhibitors of cholinesterase 4 homolog" ], "gene_symbol": "SNAP25", "hgnc_symbol": "SNAP25", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:10199478-10288066", "ensembl_id": "ENSG00000132639" } }, "GRch38": { "90": { "location": "20:10218830-10307418", "ensembl_id": "ENSG00000132639" } } }, "hgnc_date_symbol_changed": "1995-01-24" }, "entity_type": "gene", "entity_name": "SNAP25", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25381298", "25003006", "29100083", "28135719" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp", "Expert list" ], "phenotypes": [ "Myasthenic syndrome, congenital, 18, MIM# 616330", "Developmental and epileptic encephalopathy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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": [ "KIAA0725", "SPG54" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29106", "gene_name": "DDHD domain containing 2", "omim_gene": [ "615003" ], "alias_name": null, "gene_symbol": "DDHD2", "hgnc_symbol": "DDHD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:38082736-38133076", "ensembl_id": "ENSG00000085788" } }, "GRch38": { "90": { "location": "8:38225218-38275558", "ensembl_id": "ENSG00000085788" } } }, "hgnc_date_symbol_changed": "2004-04-07" }, "entity_type": "gene", "entity_name": "DDHD2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23486545", "24482476", "23176823", "31302745" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Spastic paraplegia 54, autosomal recessive, MIM# 615033", "MONDO:0014018" ], "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": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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:9024", "gene_name": "plakophilin 2", "omim_gene": [ "602861" ], "alias_name": null, "gene_symbol": "PKP2", "hgnc_symbol": "PKP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:32943679-33049774", "ensembl_id": "ENSG00000057294" } }, "GRch38": { "90": { "location": "12:32790745-32896840", "ensembl_id": "ENSG00000057294" } } }, "hgnc_date_symbol_changed": "1997-08-28" }, "entity_type": "gene", "entity_name": "PKP2", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 30562116", "PMID: 35059364", "PMID: 38050058" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Dilated cardiomyopathy, MONDO:0005021, PKP2-related", "dilated cardiomyopathy", "hypoplastic left heart syndrome", "hydrops fetalis", "ventricular septal defect", "left ventricular non-compaction" ], "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": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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": [ "ARA267", "FLJ22263", "KMT3B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14234", "gene_name": "nuclear receptor binding SET domain protein 1", "omim_gene": [ "606681" ], "alias_name": null, "gene_symbol": "NSD1", "hgnc_symbol": "NSD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:176560026-176727216", "ensembl_id": "ENSG00000165671" } }, "GRch38": { "90": { "location": "5:177133025-177300215", "ensembl_id": "ENSG00000165671" } } }, "hgnc_date_symbol_changed": "2002-02-25" }, "entity_type": "gene", "entity_name": "NSD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29966037" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Sotos syndrome 1, MIM# 117550" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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": [ "KIAA0024", "PSSA", "PSS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9587", "gene_name": "phosphatidylserine synthase 1", "omim_gene": [ "612792" ], "alias_name": null, "gene_symbol": "PTDSS1", "hgnc_symbol": "PTDSS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:97273943-97349223", "ensembl_id": "ENSG00000156471" } }, "GRch38": { "90": { "location": "8:96261715-96336995", "ensembl_id": "ENSG00000156471" } } }, "hgnc_date_symbol_changed": "2000-01-21" }, "entity_type": "gene", "entity_name": "PTDSS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24241535", "29341480", "31403251" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Lenz-Majewski hyperostotic dwarfism MIM#151050" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.567", "version_created": "2026-04-23T20:40:49.710516+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2208, "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:4065", "gene_name": "glucosidase alpha, acid", "omim_gene": [ "606800" ], "alias_name": [ "Pompe disease", "glycogen storage disease type II" ], "gene_symbol": "GAA", "hgnc_symbol": "GAA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:78075355-78093678", "ensembl_id": "ENSG00000171298" } }, "GRch38": { "90": { "location": "17:80101556-80119879", "ensembl_id": "ENSG00000171298" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GAA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25103075", "27365701", "29880332" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Glycogen storage disease II (Pompe disease), 232300" ], "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": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "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": [ "IL1RA", "ICIL-1RA", "IL1F3", "IRAP", "IL-1RN", "MGC10430" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6000", "gene_name": "interleukin 1 receptor antagonist", "omim_gene": [ "147679" ], "alias_name": [ "interleukin-1 receptor antagonist protein", "intracellular interleukin-1 receptor antagonist" ], "gene_symbol": "IL1RN", "hgnc_symbol": "IL1RN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:113864791-113891593", "ensembl_id": "ENSG00000136689" } }, "GRch38": { "90": { "location": "2:113107214-113134016", "ensembl_id": "ENSG00000136689" } } }, "hgnc_date_symbol_changed": "1990-11-20" }, "entity_type": "gene", "entity_name": "IL1RN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Interleukin 1 receptor antagonist deficiency, MIM# 612852", "Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, MIM# 61285" ], "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": "2.17", "version_created": "2026-04-24T17:00:21.626497+10:00", "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": [ "BTHS", "XAP-2", "G4.5", "TAZ1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11577", "gene_name": "tafazzin", "omim_gene": [ "300394" ], "alias_name": [ "Barth syndrome" ], "gene_symbol": "TAZ", "hgnc_symbol": "TAZ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153639854-153650065", "ensembl_id": "ENSG00000102125" } }, "GRch38": { "90": { "location": "X:154411518-154421726", "ensembl_id": "ENSG00000102125" } } }, "hgnc_date_symbol_changed": "1989-05-29" }, "entity_type": "gene", "entity_name": "TAZ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29152456" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "3-methylglutaconic aciduria MONDO:0017359" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1967", "gene_name": "cholinergic receptor nicotinic gamma subunit", "omim_gene": [ "100730" ], "alias_name": [ "acetylcholine receptor, nicotinic, gamma (muscle)" ], "gene_symbol": "CHRNG", "hgnc_symbol": "CHRNG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:233404437-233411113", "ensembl_id": "ENSG00000196811" } }, "GRch38": { "90": { "location": "2:232539727-232546403", "ensembl_id": "ENSG00000196811" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "CHRNG", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Escobar syndrome, MIM# 265000", "Multiple pterygium syndrome, lethal type, MIM# 253290" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12754", "gene_name": "WD repeat domain 1", "omim_gene": [ "604734" ], "alias_name": null, "gene_symbol": "WDR1", "hgnc_symbol": "WDR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:10075963-10118573", "ensembl_id": "ENSG00000071127" } }, "GRch38": { "90": { "location": "4:10074339-10116949", "ensembl_id": "ENSG00000071127" } } }, "hgnc_date_symbol_changed": "1999-04-23" }, "entity_type": "gene", "entity_name": "WDR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32960541, 27994071, 27557945" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "immunological", "haematological" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CRS2", "FPP", "HOX8", "MSH", "PFM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7392", "gene_name": "msh homeobox 2", "omim_gene": [ "123101" ], "alias_name": [ "craniosynostosis, type 2" ], "gene_symbol": "MSX2", "hgnc_symbol": "MSX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:174151536-174157896", "ensembl_id": "ENSG00000120149" } }, "GRch38": { "90": { "location": "5:174724533-174730893", "ensembl_id": "ENSG00000120149" } } }, "hgnc_date_symbol_changed": "1993-05-26" }, "entity_type": "gene", "entity_name": "MSX2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Craniosynostosis 2 (MIM#604757)", "Parietal foramina 1 (MIM#168500)", "Parietal foramina with cleidocranial dysplasia (MIM#168550)" ], "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:613", "gene_name": "apolipoprotein E", "omim_gene": [ "107741" ], "alias_name": null, "gene_symbol": "APOE", "hgnc_symbol": "APOE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:45409011-45412650", "ensembl_id": "ENSG00000130203" } }, "GRch38": { "90": { "location": "19:44905754-44909393", "ensembl_id": "ENSG00000130203" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "APOE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4126, "hash_id": null, "name": "Transplant Co-Morbidity", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma", "status": "public", "version": "0.21", "version_created": "2026-01-16T12:00:12.269232+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 278, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": [ "10581026", "25633957", "16033917", "25240749", "22796475", "20112039" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission", "Mackenzie's Mission" ], "phenotypes": [ "Deafness, autosomal recessive 53 MIM#609706", "Fibrochondrogenesis 2 MIM#614524", "Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150" ], "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": "2.1", "version_created": "2026-04-24T17:01:18.976102+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": [ "ABC16", "SPGP", "PFIC-2", "PGY4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:42", "gene_name": "ATP binding cassette subfamily B member 11", "omim_gene": [ "603201" ], "alias_name": [ "ABC member 16, MDR/TAP subfamily" ], "gene_symbol": "ABCB11", "hgnc_symbol": "ABCB11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:169779448-169887832", "ensembl_id": "ENSG00000073734" } }, "GRch38": { "90": { "location": "2:168922938-169031322", "ensembl_id": "ENSG00000073734" } } }, "hgnc_date_symbol_changed": "1998-09-25" }, "entity_type": "gene", "entity_name": "ABCB11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cholestasis, progressive familial intrahepatic 2, 601847 (3)" ], "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": "2.1", "version_created": "2026-04-24T17:01:18.976102+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": [ "HHARP", "HARP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11102", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1", "omim_gene": [ "606622" ], "alias_name": [ "HepA-related protein", "ATP-driven annealing helicase" ], "gene_symbol": "SMARCAL1", "hgnc_symbol": "SMARCAL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:217277137-217347776", "ensembl_id": "ENSG00000138375" } }, "GRch38": { "90": { "location": "2:216412414-216483053", "ensembl_id": "ENSG00000138375" } } }, "hgnc_date_symbol_changed": "2000-02-18" }, "entity_type": "gene", "entity_name": "SMARCAL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31275356", "29282041", "18356746" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Schimke immunoosseous dysplasia, MIM# 242900" ], "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": "2.1", "version_created": "2026-04-24T17:01:18.976102+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": [ "HCS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4976", "gene_name": "holocarboxylase synthetase", "omim_gene": [ "609018" ], "alias_name": null, "gene_symbol": "HLCS", "hgnc_symbol": "HLCS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:38123189-38362536", "ensembl_id": "ENSG00000159267" } }, "GRch38": { "90": { "location": "21:36750888-36990236", "ensembl_id": "ENSG00000159267" } } }, "hgnc_date_symbol_changed": "1994-12-15" }, "entity_type": "gene", "entity_name": "HLCS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10190325" ], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [ "Disorders of biotin metabolism", "holocarboxylase synthetase deficiency MONDO:0009666" ], "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": [ "hGCMb" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4198", "gene_name": "glial cells missing homolog 2", "omim_gene": [ "603716" ], "alias_name": null, "gene_symbol": "GCM2", "hgnc_symbol": "GCM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:10873456-10882174", "ensembl_id": "ENSG00000124827" } }, "GRch38": { "90": { "location": "6:10873223-10881941", "ensembl_id": "ENSG00000124827" } } }, "hgnc_date_symbol_changed": "2002-09-27" }, "entity_type": "gene", "entity_name": "GCM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "PMID: 27745835, 34967908, 33471711, 29108698" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review", "Expert list" ], "phenotypes": [ "Tumor of parathyroid gland, MONDO:0021360", "Hyperparathyroidism 4, MONDO:0024570", "Hyperparathyroidism 4, MIM#617343" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4363, "hash_id": null, "name": "Parathyroid Tumour", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with parathyroid tumour. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with parathyroid tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.2", "version_created": "2024-11-01T16:33:54.194345+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ11811", "CGIN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20165", "gene_name": "NYN domain and retroviral integrase containing", "omim_gene": null, "alias_name": [ "Cousin of GIN1" ], "gene_symbol": "NYNRIN", "hgnc_symbol": "NYNRIN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:24867992-24888494", "ensembl_id": "ENSG00000205978" } }, "GRch38": { "90": { "location": "14:24398786-24419288", "ensembl_id": "ENSG00000205978" } } }, "hgnc_date_symbol_changed": "2009-10-14" }, "entity_type": "gene", "entity_name": "NYNRIN", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30885698" ], "evidence": [ "Expert Review Amber", "Literature", "Expert Review", "Expert list" ], "phenotypes": [ "Wilms tumor, MONDO:0006058", "Wilms tumour, no MIM#" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4366, "hash_id": null, "name": "Wilms Tumour", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with Wilms tumour. \r\n\r\nFurther information on the testing criteria for Wilms tumour can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3703-wilms-tumour-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with Wilms tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nWhere Beckwith-Wiedemann Syndrome (BWS) is suspected it is more appropriate to start with methylation studies of 11p15 BWS region in blood and tissue.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2025-09-05T08:17:06.102713+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" } ], "child_panel_ids": [] }, "transcript": [] } ] }