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GET /api/v1/entities/?format=api&page=358
{ "count": 36022, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=359", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=357", "results": [ { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3341", "gene_name": "empty spiracles homeobox 2", "omim_gene": [ "600035" ], "alias_name": null, "gene_symbol": "EMX2", "hgnc_symbol": "EMX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:119301955-119309056", "ensembl_id": "ENSG00000170370" } }, "GRch38": { "90": { "location": "10:117542444-117549546", "ensembl_id": "ENSG00000170370" } } }, "hgnc_date_symbol_changed": "1994-02-08" }, "entity_type": "gene", "entity_name": "EMX2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8528262", "9359037", "9153481", "18409201" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Brain Malformations Flagship" ], "phenotypes": [ "Schizencephaly MIM# 269160" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 18, "hash_id": null, "name": "Polymicrogyria and Schizencephaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.", "status": "public", "version": "0.204", "version_created": "2025-12-18T09:49:46.643708+11:00", "relevant_disorders": [ "Polymicrogyria", "HP:0002126;Schizencephaly", "HP:0010636" ], "stats": { "number_of_genes": 88, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RNASE5", "RAA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:483", "gene_name": "angiogenin", "omim_gene": [ "105850" ], "alias_name": [ "ribonuclease A family member 5" ], "gene_symbol": "ANG", "hgnc_symbol": "ANG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:21152336-21167130", "ensembl_id": "ENSG00000214274" } }, "GRch38": { "90": { "location": "14:20684177-20698971", "ensembl_id": "ENSG00000214274" } } }, "hgnc_date_symbol_changed": "1989-05-23" }, "entity_type": "gene", "entity_name": "ANG", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "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": [ "ATX3", "JOS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7106", "gene_name": "ataxin 3", "omim_gene": [ "607047" ], "alias_name": null, "gene_symbol": "ATXN3", "hgnc_symbol": "ATXN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:92524896-92572965", "ensembl_id": "ENSG00000066427" } }, "GRch38": { "90": { "location": "14:92038652-92106621", "ensembl_id": "ENSG00000066427" } } }, "hgnc_date_symbol_changed": "2004-08-13" }, "entity_type": "gene", "entity_name": "ATXN3", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 11176969", "7574470" ], "evidence": [ "Expert Review Removed", "Literature" ], "phenotypes": [ "Spinocerebellar 3", "Machado Joseph disease", "Ataxia", "Parkinsonism", "OMIM 109150" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "STR" ], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.51", "version_created": "2026-03-30T11:47:22.375379+11:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "osterix", "OSX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17321", "gene_name": "Sp7 transcription factor", "omim_gene": [ "606633" ], "alias_name": null, "gene_symbol": "SP7", "hgnc_symbol": "SP7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:53720362-53739099", "ensembl_id": "ENSG00000170374" } }, "GRch38": { "90": { "location": "12:53326575-53345315", "ensembl_id": "ENSG00000170374" } } }, "hgnc_date_symbol_changed": "2002-09-23" }, "entity_type": "gene", "entity_name": "SP7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Perinatal Autopsy Flagship" ], "phenotypes": [ "Osteogenesis imperfecta, type XII, MIM# 613849" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 28, "hash_id": null, "name": "Skeletal Dysplasia_Fetal", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.", "status": "public", "version": "0.246", "version_created": "2026-03-02T10:22:48.751874+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TMLH", "FLJ10727", "BBOX2", "XAP130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18308", "gene_name": "trimethyllysine hydroxylase, epsilon", "omim_gene": [ "300777" ], "alias_name": [ "butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2" ], "gene_symbol": "TMLHE", "hgnc_symbol": "TMLHE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:154719776-154899605", "ensembl_id": "ENSG00000185973" } }, "GRch38": { "90": { "location": "X:155490115-155669944", "ensembl_id": "ENSG00000185973" } } }, "hgnc_date_symbol_changed": "2002-04-26" }, "entity_type": "gene", "entity_name": "TMLHE", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21865298" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "{Autism, susceptibility to, X-linked 6}, MIM#300872" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "disputed" ], "panel": { "id": 51, "hash_id": null, "name": "Autism", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.248", "version_created": "2026-03-19T12:51:18.584438+11:00", "relevant_disorders": [ "Autism", "HP:0000717" ], "stats": { "number_of_genes": 157, "number_of_strs": 0, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "L35" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10344", "gene_name": "ribosomal protein L35", "omim_gene": null, "alias_name": [ "60S ribosomal protein L35" ], "gene_symbol": "RPL35", "hgnc_symbol": "RPL35", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:127620159-127624260", "ensembl_id": "ENSG00000136942" } }, "GRch38": { "90": { "location": "9:124857880-124861981", "ensembl_id": "ENSG00000136942" } } }, "hgnc_date_symbol_changed": "1999-09-16" }, "entity_type": "gene", "entity_name": "RPL35", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 28280134" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Diamond-Blackfan anemia 19, MIM# 618312" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 56, "hash_id": null, "name": "Bone Marrow Failure", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.", "status": "public", "version": "1.141", "version_created": "2026-03-17T18:48:23.244194+11:00", "relevant_disorders": [ "Abnormality of multiple cell lineages of the bone marrow", "HP:0012145" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10586", "gene_name": "sodium voltage-gated channel beta subunit 1", "omim_gene": [ "600235" ], "alias_name": null, "gene_symbol": "SCN1B", "hgnc_symbol": "SCN1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:35521588-35531352", "ensembl_id": "ENSG00000105711" } }, "GRch38": { "90": { "location": "19:35030466-35040449", "ensembl_id": "ENSG00000105711" } } }, "hgnc_date_symbol_changed": "1990-05-14" }, "entity_type": "gene", "entity_name": "SCN1B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29959160" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Brugada syndrome 1, MONDO:0011001" ], "mode_of_inheritance": "Unknown", "tags": [ "disputed" ], "panel": { "id": 60, "hash_id": null, "name": "Brugada syndrome", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.46", "version_created": "2026-02-06T09:29:49.325637+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 23, "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": [ "MiRP2", "HOKPP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6243", "gene_name": "potassium voltage-gated channel subfamily E regulatory subunit 3", "omim_gene": [ "604433" ], "alias_name": null, "gene_symbol": "KCNE3", "hgnc_symbol": "KCNE3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:74165886-74178774", "ensembl_id": "ENSG00000175538" } }, "GRch38": { "90": { "location": "11:74454841-74467729", "ensembl_id": "ENSG00000175538" } } }, "hgnc_date_symbol_changed": "1999-05-11" }, "entity_type": "gene", "entity_name": "KCNE3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29959160" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Brugada syndrome, MONDO:0015263" ], "mode_of_inheritance": "Unknown", "tags": [ "disputed" ], "panel": { "id": 60, "hash_id": null, "name": "Brugada syndrome", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.46", "version_created": "2026-02-06T09:29:49.325637+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 23, "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:17134", "gene_name": "COBW domain containing 1", "omim_gene": [ "611078" ], "alias_name": null, "gene_symbol": "CBWD1", "hgnc_symbol": "CBWD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:121041-188979", "ensembl_id": "ENSG00000172785" } }, "GRch38": { "90": { "location": "9:121038-179147", "ensembl_id": "ENSG00000172785" } } }, "hgnc_date_symbol_changed": "2001-11-26" }, "entity_type": "gene", "entity_name": "CBWD1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31862704" ], "evidence": [ "Literature", "Expert Review Red", "Expert Review Red", "Literature" ], "phenotypes": [ "CAKUT" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 63, "hash_id": null, "name": "Congenital anomalies of the kidney and urinary tract (CAKUT)", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).", "status": "public", "version": "0.204", "version_created": "2026-03-19T13:24:30.325727+11:00", "relevant_disorders": [ "Abnormality of the urinary system HP:0000079" ], "stats": { "number_of_genes": 124, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1954", "gene_name": "cholinergic receptor muscarinic 5", "omim_gene": [ "118496" ], "alias_name": [ "acetylcholine receptor, muscarinic 5" ], "gene_symbol": "CHRM5", "hgnc_symbol": "CHRM5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:34260921-34357291", "ensembl_id": "ENSG00000184984" } }, "GRch38": { "90": { "location": "15:33968720-34067457", "ensembl_id": "ENSG00000184984" } } }, "hgnc_date_symbol_changed": "1989-04-21" }, "entity_type": "gene", "entity_name": "CHRM5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37213061" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 63, "hash_id": null, "name": "Congenital anomalies of the kidney and urinary tract (CAKUT)", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).", "status": "public", "version": "0.204", "version_created": "2026-03-19T13:24:30.325727+11:00", "relevant_disorders": [ "Abnormality of the urinary system HP:0000079" ], "stats": { "number_of_genes": 124, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:18122", "gene_name": "SRY-box 17", "omim_gene": [ "610928" ], "alias_name": null, "gene_symbol": "SOX17", "hgnc_symbol": "SOX17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:55370495-55373448", "ensembl_id": "ENSG00000164736" } }, "GRch38": { "90": { "location": "8:54457935-54460888", "ensembl_id": "ENSG00000164736" } } }, "hgnc_date_symbol_changed": "2002-02-15" }, "entity_type": "gene", "entity_name": "SOX17", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20960469" ], "evidence": [ "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Expert Review Red", "Expert Review Green", "Expert Review Green", "Expert Review Red", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Vesicoureteral reflux 3", "OMIM #613674" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 63, "hash_id": null, "name": "Congenital anomalies of the kidney and urinary tract (CAKUT)", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).", "status": "public", "version": "0.204", "version_created": "2026-03-19T13:24:30.325727+11:00", "relevant_disorders": [ "Abnormality of the urinary system HP:0000079" ], "stats": { "number_of_genes": 124, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "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": [ "CX43", "ODD", "ODOD", "SDTY3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4274", "gene_name": "gap junction protein alpha 1", "omim_gene": [ "121014" ], "alias_name": [ "oculodentodigital dysplasia (syndactyly type III)", "connexin 43" ], "gene_symbol": "GJA1", "hgnc_symbol": "GJA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:121756838-121770873", "ensembl_id": "ENSG00000152661" } }, "GRch38": { "90": { "location": "6:121435692-121449727", "ensembl_id": "ENSG00000152661" } } }, "hgnc_date_symbol_changed": "1990-08-03" }, "entity_type": "gene", "entity_name": "GJA1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Oculodentodigital dysplasia, autosomal recessive, MIM# 257850" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "K2p9.1", "TASK3", "TASK-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6283", "gene_name": "potassium two pore domain channel subfamily K member 9", "omim_gene": [ "605874" ], "alias_name": null, "gene_symbol": "KCNK9", "hgnc_symbol": "KCNK9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:140613081-140715299", "ensembl_id": "ENSG00000169427" } }, "GRch38": { "90": { "location": "8:139600838-139703056", "ensembl_id": "ENSG00000169427" } } }, "hgnc_date_symbol_changed": "2000-05-26" }, "entity_type": "gene", "entity_name": "KCNK9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Birk-Barel syndrome (KCNK9 imprinting syndrome), MIM#612292" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2213", "gene_name": "collagen type VI alpha 3 chain", "omim_gene": [ "120250" ], "alias_name": null, "gene_symbol": "COL6A3", "hgnc_symbol": "COL6A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:238232646-238323018", "ensembl_id": "ENSG00000163359" } }, "GRch38": { "90": { "location": "2:237324003-237414375", "ensembl_id": "ENSG00000163359" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL6A3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Dystonia 27, MIM#616411" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9330", "gene_name": "polyglutamine binding protein 1", "omim_gene": [ "300463" ], "alias_name": null, "gene_symbol": "PQBP1", "hgnc_symbol": "PQBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48755195-48760420", "ensembl_id": "ENSG00000102103" } }, "GRch38": { "90": { "location": "X:48897912-48903143", "ensembl_id": "ENSG00000102103" } } }, "hgnc_date_symbol_changed": "1999-01-12" }, "entity_type": "gene", "entity_name": "PQBP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Renpenning syndrome, MIM#309500" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LERK4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3224", "gene_name": "ephrin A4", "omim_gene": [ "601380" ], "alias_name": null, "gene_symbol": "EFNA4", "hgnc_symbol": "EFNA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155036207-155042029", "ensembl_id": "ENSG00000243364" } }, "GRch38": { "90": { "location": "1:155063731-155069553", "ensembl_id": "ENSG00000243364" } } }, "hgnc_date_symbol_changed": "1995-01-17" }, "entity_type": "gene", "entity_name": "EFNA4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29168297", "29215649" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Coronal and metopic craniosynostosis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 93, "hash_id": null, "name": "Craniosynostosis", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.", "status": "public", "version": "1.84", "version_created": "2026-04-02T18:50:11.631878+11:00", "relevant_disorders": [ "Craniosynostosis HP:0001363" ], "stats": { "number_of_genes": 105, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "S24" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10411", "gene_name": "ribosomal protein S24", "omim_gene": [ "602412" ], "alias_name": null, "gene_symbol": "RPS24", "hgnc_symbol": "RPS24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:79793518-79816570", "ensembl_id": "ENSG00000138326" } }, "GRch38": { "90": { "location": "10:78033760-78056812", "ensembl_id": "ENSG00000138326" } } }, "hgnc_date_symbol_changed": "1990-08-22" }, "entity_type": "gene", "entity_name": "RPS24", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Diamond-blackfan anemia 3, MIM#\t610629" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "TINUR", "NOT", "RNR1", "HZF-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7981", "gene_name": "nuclear receptor subfamily 4 group A member 2", "omim_gene": [ "601828" ], "alias_name": null, "gene_symbol": "NR4A2", "hgnc_symbol": "NR4A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:157180944-157198860", "ensembl_id": "ENSG00000153234" } }, "GRch38": { "90": { "location": "2:156324432-156342348", "ensembl_id": "ENSG00000153234" } } }, "hgnc_date_symbol_changed": "1997-07-11" }, "entity_type": "gene", "entity_name": "NR4A2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 126, "hash_id": null, "name": "Incidentalome", "disease_group": "", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).", "status": "public", "version": "0.433", "version_created": "2026-03-25T17:03:27.624542+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 161, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MKP-3", "PYST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3072", "gene_name": "dual specificity phosphatase 6", "omim_gene": [ "602748" ], "alias_name": null, "gene_symbol": "DUSP6", "hgnc_symbol": "DUSP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:89741009-89747048", "ensembl_id": "ENSG00000139318" } }, "GRch38": { "90": { "location": "12:89347232-89353271", "ensembl_id": "ENSG00000139318" } } }, "hgnc_date_symbol_changed": "1997-03-19" }, "entity_type": "gene", "entity_name": "DUSP6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23643382", "39809967", "37108593", "33819414" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "WDR30", "FLJ10035", "ATG16A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21498", "gene_name": "autophagy related 16 like 1", "omim_gene": [ "610767" ], "alias_name": null, "gene_symbol": "ATG16L1", "hgnc_symbol": "ATG16L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:234118697-234204320", "ensembl_id": "ENSG00000085978" } }, "GRch38": { "90": { "location": "2:233210051-233295674", "ensembl_id": "ENSG00000085978" } } }, "hgnc_date_symbol_changed": "2005-09-13" }, "entity_type": "gene", "entity_name": "ATG16L1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PMID: 20602997" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Inflammatory bowel disease (Crohn disease) 10} MIM#611081" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "GALNAC-4-ST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15993", "gene_name": "carbohydrate sulfotransferase 8", "omim_gene": [ "610190" ], "alias_name": null, "gene_symbol": "CHST8", "hgnc_symbol": "CHST8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:34112861-34264414", "ensembl_id": "ENSG00000124302" } }, "GRch38": { "90": { "location": "19:33621955-33773509", "ensembl_id": "ENSG00000124302" } } }, "hgnc_date_symbol_changed": "2001-06-27" }, "entity_type": "gene", "entity_name": "CHST8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22289416", "28204496" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Peeling skin syndrome, MONDO:0019347, CHST8-realted" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "CPAH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17245", "gene_name": "carboxypeptidase A6", "omim_gene": [ "609562" ], "alias_name": null, "gene_symbol": "CPA6", "hgnc_symbol": "CPA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:68334360-68658620", "ensembl_id": "ENSG00000165078" } }, "GRch38": { "90": { "location": "8:67422038-67746385", "ensembl_id": "ENSG00000165078" } } }, "hgnc_date_symbol_changed": "2002-05-29" }, "entity_type": "gene", "entity_name": "CPA6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25875328", "21922598", "23105115" ], "evidence": [ "ClinGen", "Expert Review Red" ], "phenotypes": [ "Epilepsy, familial temporal lobe, 5, MIM#614417", "Febrile seizures, familial, 11, MIM#614418" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "refuted", "disputed" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "CPA6", "CYP2A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2610", "gene_name": "cytochrome P450 family 2 subfamily A member 6", "omim_gene": [ "122720" ], "alias_name": null, "gene_symbol": "CYP2A6", "hgnc_symbol": "CYP2A6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:41349443-41356352", "ensembl_id": "ENSG00000255974" } }, "GRch38": { "90": { "location": "19:40843538-40850447", "ensembl_id": "ENSG00000255974" } } }, "hgnc_date_symbol_changed": "1994-12-20" }, "entity_type": "gene", "entity_name": "CYP2A6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Coumarin resistance MIM#122700" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "CPC8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2622", "gene_name": "cytochrome P450 family 2 subfamily C member 8", "omim_gene": [ "601129" ], "alias_name": null, "gene_symbol": "CYP2C8", "hgnc_symbol": "CYP2C8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:96796530-96829254", "ensembl_id": "ENSG00000138115" } }, "GRch38": { "90": { "location": "10:95036772-95069497", "ensembl_id": "ENSG00000138115" } } }, "hgnc_date_symbol_changed": "1991-07-31" }, "entity_type": "gene", "entity_name": "CYP2C8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Drug metabolism, altered, CYP2C8-related} 618018" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "SPGY" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2682", "gene_name": "deleted in azoospermia 1", "omim_gene": [ "400003" ], "alias_name": null, "gene_symbol": "DAZ1", "hgnc_symbol": "DAZ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "Y:25275502-25345241", "ensembl_id": "ENSG00000188120" } }, "GRch38": { "90": { "location": "Y:23129355-23199094", "ensembl_id": "ENSG00000188120" } } }, "hgnc_date_symbol_changed": "2005-01-22" }, "entity_type": "gene", "entity_name": "DAZ1", "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "K6HF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24431", "gene_name": "keratin 75", "omim_gene": [ "609025" ], "alias_name": null, "gene_symbol": "KRT75", "hgnc_symbol": "KRT75", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52817854-52828309", "ensembl_id": "ENSG00000170454" } }, "GRch38": { "90": { "location": "12:52424070-52434525", "ensembl_id": "ENSG00000170454" } } }, "hgnc_date_symbol_changed": "2006-07-17" }, "entity_type": "gene", "entity_name": "KRT75", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Pseudofolliculitis barbae, susceptibility to} 612318" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "TNFSF1", "LT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6709", "gene_name": "lymphotoxin alpha", "omim_gene": [ "153440" ], "alias_name": [ "TNF superfamily member 1" ], "gene_symbol": "LTA", "hgnc_symbol": "LTA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31539831-31542101", "ensembl_id": "ENSG00000226979" } }, "GRch38": { "90": { "location": "6:31572054-31574324", "ensembl_id": "ENSG00000226979" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "LTA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myocardial infarction, susceptibility to, MIM# 608446" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7000", "gene_name": "Meis homeobox 1", "omim_gene": [ "601739" ], "alias_name": null, "gene_symbol": "MEIS1", "hgnc_symbol": "MEIS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:66660584-66801001", "ensembl_id": "ENSG00000143995" } }, "GRch38": { "90": { "location": "2:66433452-66573869", "ensembl_id": "ENSG00000143995" } } }, "hgnc_date_symbol_changed": "1996-12-17" }, "entity_type": "gene", "entity_name": "MEIS1", "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "hsa-mir-183" ], "biotype": "miRNA", "hgnc_id": "HGNC:31554", "gene_name": "microRNA 183", "omim_gene": [ "611608" ], "alias_name": null, "gene_symbol": "MIR183", "hgnc_symbol": "MIR183", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:129414745-129414854", "ensembl_id": "ENSG00000207691" } }, "GRch38": { "90": { "location": "7:129774905-129775014", "ensembl_id": "ENSG00000207691" } } }, "hgnc_date_symbol_changed": "2008-12-18" }, "entity_type": "gene", "entity_name": "MIR183", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "c-Myc", "bHLHe39", "MYCC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7553", "gene_name": "MYC proto-oncogene, bHLH transcription factor", "omim_gene": [ "190080" ], "alias_name": null, "gene_symbol": "MYC", "hgnc_symbol": "MYC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:128747680-128753674", "ensembl_id": "ENSG00000136997" } }, "GRch38": { "90": { "location": "8:127735434-127741434", "ensembl_id": "ENSG00000136997" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MYC", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Burkitt lymphoma, somatic, MIM# 113970" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "NIR1", "RDGBA3", "ACKR6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21043", "gene_name": "PITPNM family member 3", "omim_gene": [ "608921" ], "alias_name": [ "atypical chemokine receptor 6" ], "gene_symbol": "PITPNM3", "hgnc_symbol": "PITPNM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:6354584-6459814", "ensembl_id": "ENSG00000091622" } }, "GRch38": { "90": { "location": "17:6451264-6556494", "ensembl_id": "ENSG00000091622" } } }, "hgnc_date_symbol_changed": "2013-07-18" }, "entity_type": "gene", "entity_name": "PITPNM3", "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "RPF-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21694", "gene_name": "POU class 6 homeobox 2", "omim_gene": [ "609062" ], "alias_name": [ "Retina-derived POU-domain factor-1" ], "gene_symbol": "POU6F2", "hgnc_symbol": "POU6F2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:39017598-39532694", "ensembl_id": "ENSG00000106536" } }, "GRch38": { "90": { "location": "7:38977998-39493095", "ensembl_id": "ENSG00000106536" } } }, "hgnc_date_symbol_changed": "2004-01-29" }, "entity_type": "gene", "entity_name": "POU6F2", "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "MgtE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19429", "gene_name": "solute carrier family 41 member 1", "omim_gene": [ "610801" ], "alias_name": null, "gene_symbol": "SLC41A1", "hgnc_symbol": "SLC41A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:205758221-205782876", "ensembl_id": "ENSG00000133065" } }, "GRch38": { "90": { "location": "1:205789093-205813748", "ensembl_id": "ENSG00000133065" } } }, "hgnc_date_symbol_changed": "2003-02-26" }, "entity_type": "gene", "entity_name": "SLC41A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23661805" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nephronophthisis-like nephropathy 2, MIM# 619468" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "TSAP6", "dudlin-2", "STMP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24592", "gene_name": "STEAP3 metalloreductase", "omim_gene": [ "609671" ], "alias_name": null, "gene_symbol": "STEAP3", "hgnc_symbol": "STEAP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:119981384-120023228", "ensembl_id": "ENSG00000115107" } }, "GRch38": { "90": { "location": "2:119223831-119265652", "ensembl_id": "ENSG00000115107" } } }, "hgnc_date_symbol_changed": "2005-06-15" }, "entity_type": "gene", "entity_name": "STEAP3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22031863", "25515317", "26675350", "38360212" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "disputed" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "UEF", "MLTFI", "bHLHb11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12593", "gene_name": "upstream transcription factor 1", "omim_gene": [ "191523" ], "alias_name": null, "gene_symbol": "USF1", "hgnc_symbol": "USF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:161009041-161015767", "ensembl_id": "ENSG00000158773" } }, "GRch38": { "90": { "location": "1:161039251-161045977", "ensembl_id": "ENSG00000158773" } } }, "hgnc_date_symbol_changed": "1992-12-10" }, "entity_type": "gene", "entity_name": "USF1", "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "DLX8", "BP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2917", "gene_name": "distal-less homeobox 4", "omim_gene": [ "601911" ], "alias_name": null, "gene_symbol": "DLX4", "hgnc_symbol": "DLX4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48046334-48052321", "ensembl_id": "ENSG00000108813" } }, "GRch38": { "90": { "location": "17:49968970-49974959", "ensembl_id": "ENSG00000108813" } } }, "hgnc_date_symbol_changed": "1996-08-07" }, "entity_type": "gene", "entity_name": "DLX4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25954033", "29738288" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Orofacial cleft 15, MIM#\t616788" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [] }, { "gene_data": { "alias": [ "HKLP2", "NY-BR-62" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17273", "gene_name": "kinesin family member 15", "omim_gene": [ "617569" ], "alias_name": null, "gene_symbol": "KIF15", "hgnc_symbol": "KIF15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:44803209-44914868", "ensembl_id": "ENSG00000163808" } }, "GRch38": { "90": { "location": "3:44761717-44873376", "ensembl_id": "ENSG00000163808" } } }, "hgnc_date_symbol_changed": "2005-03-17" }, "entity_type": "gene", "entity_name": "KIF15", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28150392" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Braddock-Carey syndrome 2 - MIM#619981" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [ "DKFZp564C012", "FLJ13576" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25826", "gene_name": "transmembrane protein 168", "omim_gene": null, "alias_name": null, "gene_symbol": "TMEM168", "hgnc_symbol": "TMEM168", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:112402437-112430647", "ensembl_id": "ENSG00000146802" } }, "GRch38": { "90": { "location": "7:112762382-112790592", "ensembl_id": "ENSG00000146802" } } }, "hgnc_date_symbol_changed": "2006-08-08" }, "entity_type": "gene", "entity_name": "TMEM168", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "https://search.clinicalgenome.org/CCID:009114" ], "evidence": [ "Expert Review Removed", "ClinGen" ], "phenotypes": [ "Brugada syndrome MONDO:0015263" ], "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": "1.4716", "version_created": "2026-04-04T15:36:29.134157+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12017", "gene_name": "translocated promoter region, nuclear basket protein", "omim_gene": [ "189940" ], "alias_name": null, "gene_symbol": "TPR", "hgnc_symbol": "TPR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:186280784-186344825", "ensembl_id": "ENSG00000047410" } }, "GRch38": { "90": { "location": "1:186311652-186375693", "ensembl_id": "ENSG00000047410" } } }, "hgnc_date_symbol_changed": "1991-11-21" }, "entity_type": "gene", "entity_name": "TPR", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34494102" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 79, MIM# 620393" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AC133", "CD133", "RP41", "CORD12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9454", "gene_name": "prominin 1", "omim_gene": [ "604365" ], "alias_name": null, "gene_symbol": "PROM1", "hgnc_symbol": "PROM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:15964699-16086001", "ensembl_id": "ENSG00000007062" } }, "GRch38": { "90": { "location": "4:15963076-16084378", "ensembl_id": "ENSG00000007062" } } }, "hgnc_date_symbol_changed": "2003-03-28" }, "entity_type": "gene", "entity_name": "PROM1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cone-rod dystrophy 12, MIM# 612657", "Macular dystrophy, retinal, 2, MIM# 608051", "Retinitis pigmentosa 41, MIM# 612095", "Stargardt disease 4, MIM# 603786" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 159, "hash_id": null, "name": "Polydactyly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.", "status": "public", "version": "0.301", "version_created": "2026-03-12T11:30:58.449890+11:00", "relevant_disorders": [ "Polydactyly", "HP:0010442" ], "stats": { "number_of_genes": 141, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CAGH26", "KIAA1460", "GW182" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11969", "gene_name": "trinucleotide repeat containing 6A", "omim_gene": [ "610739" ], "alias_name": null, "gene_symbol": "TNRC6A", "hgnc_symbol": "TNRC6A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:24741016-24838953", "ensembl_id": "ENSG00000090905" } }, "GRch38": { "90": { "location": "16:24610209-24827632", "ensembl_id": "ENSG00000090905" } } }, "hgnc_date_symbol_changed": "2004-12-17" }, "entity_type": "gene", "entity_name": "TNRC6A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 29507423", "33040085" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Epilepsy, familial adult myoclonic, 6 MIM#618074" ], "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": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AKR6A9", "KCNA3B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6230", "gene_name": "potassium voltage-gated channel subfamily A regulatory beta subunit 3", "omim_gene": [ "604111" ], "alias_name": null, "gene_symbol": "KCNAB3", "hgnc_symbol": "KCNAB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7825177-7833121", "ensembl_id": "ENSG00000170049" } }, "GRch38": { "90": { "location": "17:7921859-7929803", "ensembl_id": "ENSG00000170049" } } }, "hgnc_date_symbol_changed": "1999-03-02" }, "entity_type": "gene", "entity_name": "KCNAB3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37396552", "32990398", "36345448" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp434E202" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6494", "gene_name": "laminin subunit gamma 3", "omim_gene": [ "604349" ], "alias_name": null, "gene_symbol": "LAMC3", "hgnc_symbol": "LAMC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:133884469-133969860", "ensembl_id": "ENSG00000050555" } }, "GRch38": { "90": { "location": "9:131009082-131094473", "ensembl_id": "ENSG00000050555" } } }, "hgnc_date_symbol_changed": "1999-07-23" }, "entity_type": "gene", "entity_name": "LAMC3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cortical malformations, occipital, MIM#614115" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22490", "CSPP", "JBTS21" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26193", "gene_name": "centrosome and spindle pole associated protein 1", "omim_gene": [ "611654" ], "alias_name": null, "gene_symbol": "CSPP1", "hgnc_symbol": "CSPP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:67974661-68108498", "ensembl_id": "ENSG00000104218" } }, "GRch38": { "90": { "location": "8:67062426-67196263", "ensembl_id": "ENSG00000104218" } } }, "hgnc_date_symbol_changed": "2005-09-06" }, "entity_type": "gene", "entity_name": "CSPP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24360808", "24360803", "24360807", "25997910" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 21, MIM# 615636", "MONDO:0014288" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.610", "version_created": "2026-03-31T18:57:58.699788+11:00", "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": [ "FLJ22167", "ALYE870", "PRO1886", "JBTS20", "MKS11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:37234", "gene_name": "transmembrane protein 231", "omim_gene": [ "614949" ], "alias_name": null, "gene_symbol": "TMEM231", "hgnc_symbol": "TMEM231", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:75572015-75590184", "ensembl_id": "ENSG00000205084" } }, "GRch38": { "90": { "location": "16:75536744-75556286", "ensembl_id": "ENSG00000205084" } } }, "hgnc_date_symbol_changed": "2009-10-02" }, "entity_type": "gene", "entity_name": "TMEM231", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 20, MIM# 614970", "MONDO:0013994", "Meckel syndrome 11, MIM# 615397", "MONDO:0014164" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.610", "version_created": "2026-03-31T18:57:58.699788+11:00", "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": [ "DKFZP566K1924", "CRIP1", "CRIP1a", "CRIP1b" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24546", "gene_name": "cannabinoid receptor interacting protein 1", "omim_gene": null, "alias_name": null, "gene_symbol": "CNRIP1", "hgnc_symbol": "CNRIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:68511303-68547183", "ensembl_id": "ENSG00000119865" } }, "GRch38": { "90": { "location": "2:68284171-68320051", "ensembl_id": "ENSG00000119865" } } }, "hgnc_date_symbol_changed": "2007-11-29" }, "entity_type": "gene", "entity_name": "CNRIP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32337552", "19159392" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Deafness, autosomal dominant 58\tMIM#615654" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 209, "hash_id": null, "name": "Deafness_IsolatedAndComplex", "disease_group": "Hearing and ear disorders", "disease_sub_group": "", "description": "This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "1.359", "version_created": "2026-04-03T14:38:51.840380+11:00", "relevant_disorders": [ "Hearing impairment", "HP:0000365" ], "stats": { "number_of_genes": 348, "number_of_strs": 1, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Trif", "TRIMLESS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17857", "gene_name": "tripartite motif containing 69", "omim_gene": [ "616017" ], "alias_name": null, "gene_symbol": "TRIM69", "hgnc_symbol": "TRIM69", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:45021186-45060027", "ensembl_id": "ENSG00000185880" } }, "GRch38": { "90": { "location": "15:44728988-44767829", "ensembl_id": "ENSG00000185880" } } }, "hgnc_date_symbol_changed": "2006-09-26" }, "entity_type": "gene", "entity_name": "TRIM69", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22105173" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Susceptibility to herpes simplex encephalitis" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 237, "hash_id": null, "name": "Susceptibility to Viral Infections", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This 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). It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.", "status": "public", "version": "1.10", "version_created": "2026-03-26T15:17:02.053015+11:00", "relevant_disorders": [ "Recurrent viral infections", "HP:0004429; Severe viral infection", "HP:0031691" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "D2S1473", "CD121A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5993", "gene_name": "interleukin 1 receptor type 1", "omim_gene": [ "147810" ], "alias_name": [ "interleukin-1 receptor, type I" ], "gene_symbol": "IL1R1", "hgnc_symbol": "IL1R1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:102681004-102796334", "ensembl_id": "ENSG00000115594" } }, "GRch38": { "90": { "location": "2:102064544-102179874", "ensembl_id": "ENSG00000115594" } } }, "hgnc_date_symbol_changed": "1990-06-27" }, "entity_type": "gene", "entity_name": "IL1R1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37315560" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Chronic recurrent multifocal osteomyelitis 3, MIM#\t259680" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CLF-1", "CLF", "CISS", "CISS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2364", "gene_name": "cytokine receptor like factor 1", "omim_gene": [ "604237" ], "alias_name": [ "cold-induced sweating syndrome" ], "gene_symbol": "CRLF1", "hgnc_symbol": "CRLF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:18683030-18718551", "ensembl_id": "ENSG00000006016" } }, "GRch38": { "90": { "location": "19:18572220-18607741", "ensembl_id": "ENSG00000006016" } } }, "hgnc_date_symbol_changed": "1999-02-26" }, "entity_type": "gene", "entity_name": "CRLF1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Cold-induced sweating syndrome 1, MIM#272430" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "caspr5", "FLJ31966" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18748", "gene_name": "contactin associated protein like 5", "omim_gene": [ "610519" ], "alias_name": null, "gene_symbol": "CNTNAP5", "hgnc_symbol": "CNTNAP5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:124782864-125672864", "ensembl_id": "ENSG00000155052" } }, "GRch38": { "90": { "location": "2:124025287-124915287", "ensembl_id": "ENSG00000155052" } } }, "hgnc_date_symbol_changed": "2004-05-10" }, "entity_type": "gene", "entity_name": "CNTNAP5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20346443" ], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Autism" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ30845", "CILD12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21057", "gene_name": "radial spoke head 9 homolog", "omim_gene": [ "612648" ], "alias_name": null, "gene_symbol": "RSPH9", "hgnc_symbol": "RSPH9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:43612783-43640336", "ensembl_id": "ENSG00000172426" } }, "GRch38": { "90": { "location": "6:43645046-43672599", "ensembl_id": "ENSG00000172426" } } }, "hgnc_date_symbol_changed": "2009-02-17" }, "entity_type": "gene", "entity_name": "RSPH9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Emory Genetics Laboratory" ], "phenotypes": [], "mode_of_inheritance": "", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dJ734P14.3", "TGY", "SCA35" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16255", "gene_name": "transglutaminase 6", "omim_gene": [ "613900" ], "alias_name": [ "spinocerebellar ataxia 35" ], "gene_symbol": "TGM6", "hgnc_symbol": "TGM6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:2361554-2413399", "ensembl_id": "ENSG00000166948" } }, "GRch38": { "90": { "location": "20:2380908-2432753", "ensembl_id": "ENSG00000166948" } } }, "hgnc_date_symbol_changed": "2004-07-07" }, "entity_type": "gene", "entity_name": "TGM6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25253745", "21106500", "28934387", "22554020", "30670339", "29053796", "23206699" ], "evidence": [ "Victorian Clinical Genetics Services", "Royal Melbourne Hospital", "Expert Review Red", "Expert Review Red", "Expert Review Red", "Expert Review Red", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinocerebellar ataxia 35, 613908", "Spinocerebellar ataxia 35" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "refuted" ], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.202", "version_created": "2026-04-02T15:02:17.166617+11:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:23066", "gene_name": "trafficking protein particle complex 6B", "omim_gene": [ "610397" ], "alias_name": null, "gene_symbol": "TRAPPC6B", "hgnc_symbol": "TRAPPC6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:39617015-39639736", "ensembl_id": "ENSG00000182400" } }, "GRch38": { "90": { "location": "14:39147811-39170532", "ensembl_id": "ENSG00000182400" } } }, "hgnc_date_symbol_changed": "2003-09-01" }, "entity_type": "gene", "entity_name": "TRAPPC6B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28626029", "28397838", "31687267" ], "evidence": [ "Expert Review" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862" ], "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": [] }, { "gene_data": { "alias": [ "CGI-121", "CGI121" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24259", "gene_name": "TP53RK binding protein", "omim_gene": [ "608680" ], "alias_name": null, "gene_symbol": "TPRKB", "hgnc_symbol": "TPRKB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:73956231-73964527", "ensembl_id": "ENSG00000144034" } }, "GRch38": { "90": { "location": "2:73729104-73737400", "ensembl_id": "ENSG00000144034" } } }, "hgnc_date_symbol_changed": "2006-02-02" }, "entity_type": "gene", "entity_name": "TPRKB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28805828", "30053862" ], "evidence": [ "Expert Review" ], "phenotypes": [ "Galloway-Mowat syndrome 5, MIM# 617731" ], "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16814", "gene_name": "dachshund family transcription factor 2", "omim_gene": [ "300608" ], "alias_name": null, "gene_symbol": "DACH2", "hgnc_symbol": "DACH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:85403462-86087607", "ensembl_id": "ENSG00000126733" } }, "GRch38": { "90": { "location": "X:86148458-86832604", "ensembl_id": "ENSG00000126733" } } }, "hgnc_date_symbol_changed": "2001-11-08" }, "entity_type": "gene", "entity_name": "DACH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15459172" ], "evidence": [ "Expert Review Red", "Genetic Health QLD" ], "phenotypes": [ "Primary ovarian failure, MONDO:0005387, DACH2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": "0.408", "version_created": "2026-03-27T17:02:19.488211+11:00", "relevant_disorders": [ "Premature ovarian insufficiency", "HP:0008209" ], "stats": { "number_of_genes": 163, "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": [ "PNAT3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20989", "gene_name": "nicotinamide nucleotide adenylyltransferase 3", "omim_gene": [ "608702" ], "alias_name": null, "gene_symbol": "NMNAT3", "hgnc_symbol": "NMNAT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:139279022-139396859", "ensembl_id": "ENSG00000163864" } }, "GRch38": { "90": { "location": "3:139560180-139678017", "ensembl_id": "ENSG00000163864" } } }, "hgnc_date_symbol_changed": "2003-04-30" }, "entity_type": "gene", "entity_name": "NMNAT3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41100733, 24739386" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Familial hemolytic anemia, MONDO:0003689" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3366, "hash_id": null, "name": "Red cell disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.", "status": "public", "version": "1.52", "version_created": "2026-03-28T15:18:36.006857+11:00", "relevant_disorders": [ "Abnormal erythrocyte morphology", "HP:0001877" ], "stats": { "number_of_genes": 116, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp586J0619", "KIAA1440", "INT1", "NET28" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24555", "gene_name": "integrator complex subunit 1", "omim_gene": [ "611345" ], "alias_name": null, "gene_symbol": "INTS1", "hgnc_symbol": "INTS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:1509913-1545489", "ensembl_id": "ENSG00000164880" } }, "GRch38": { "90": { "location": "7:1470277-1504367", "ensembl_id": "ENSG00000164880" } } }, "hgnc_date_symbol_changed": "2006-03-15" }, "entity_type": "gene", "entity_name": "INTS1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28542170", "30622326", "31428919" ], "evidence": [ "Expert Review Red", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571", "Cleft palate" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1401", "gene_name": "calcium voltage-gated channel auxiliary subunit beta 1", "omim_gene": [ "114207" ], "alias_name": null, "gene_symbol": "CACNB1", "hgnc_symbol": "CACNB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:37329709-37353956", "ensembl_id": "ENSG00000067191" } }, "GRch38": { "90": { "location": "17:39173456-39197703", "ensembl_id": "ENSG00000067191" } } }, "hgnc_date_symbol_changed": "1992-03-27" }, "entity_type": "gene", "entity_name": "CACNB1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Other", "Expert Review Red", "Expert list", "Royal Melbourne Hospital" ], "phenotypes": [ "Malignant hyperthermia susceptibility" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3378, "hash_id": null, "name": "Malignant Hyperthermia Susceptibility", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that are established causes of malignant hyperthermia susceptibility (MHS). It can be used when the clinical and laboratory findings suggest a diagnosis of MHS, such as a positive muscle biopsy contracture test or positive family history. This panel is used by the Royal Melbourne Hospital.\r\n\r\nThe Skeletal Muscle Channelopathies, Rhabdomyolysis, or Myopathy panels may considered where the clinical presentation is less clearly indicative of malignant hyperthermia.", "status": "public", "version": "1.8", "version_created": "2024-05-10T10:03:11.680206+10:00", "relevant_disorders": [ "Malignant hyperthermia", "HP:0002047; Rhabdomyolysis", "HP:0003201" ], "stats": { "number_of_genes": 7, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8009", "gene_name": "neurexin 2", "omim_gene": [ "600566" ], "alias_name": [ "neurexin II" ], "gene_symbol": "NRXN2", "hgnc_symbol": "NRXN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64373646-64490660", "ensembl_id": "ENSG00000110076" } }, "GRch38": { "90": { "location": "11:64606174-64723188", "ensembl_id": "ENSG00000110076" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "NRXN2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21424692", "30709877", "25745399" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Autism" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "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:359", "gene_name": "aryl hydrocarbon receptor interacting protein like 1", "omim_gene": [ "604392" ], "alias_name": null, "gene_symbol": "AIPL1", "hgnc_symbol": "AIPL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:6297013-6338519", "ensembl_id": "ENSG00000129221" } }, "GRch38": { "90": { "location": "17:6393693-6435199", "ensembl_id": "ENSG00000129221" } } }, "hgnc_date_symbol_changed": "1999-03-18" }, "entity_type": "gene", "entity_name": "AIPL1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10615133" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Leber congenital amaurosis 4, 604393", "Cone-rod dystrophy, 604393", "Retinitis pigmentosa, juvenile, 604393" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "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": [ "FLJ20530", "INT8", "MGC131633" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26048", "gene_name": "integrator complex subunit 8", "omim_gene": [ "611351" ], "alias_name": null, "gene_symbol": "INTS8", "hgnc_symbol": "INTS8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:95825539-95893974", "ensembl_id": "ENSG00000164941" } }, "GRch38": { "90": { "location": "8:94813311-94881746", "ensembl_id": "ENSG00000164941" } } }, "hgnc_date_symbol_changed": "2006-03-15" }, "entity_type": "gene", "entity_name": "INTS8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28542170" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (MIM#618572)" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "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:19193", "gene_name": "serpin family A member 11", "omim_gene": null, "alias_name": null, "gene_symbol": "SERPINA11", "hgnc_symbol": "SERPINA11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:94908801-94919127", "ensembl_id": "ENSG00000186910" } }, "GRch38": { "90": { "location": "14:94442464-94452790", "ensembl_id": "ENSG00000186910" } } }, "hgnc_date_symbol_changed": "2004-05-21" }, "entity_type": "gene", "entity_name": "SERPINA11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38831697" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "pericardial effusion", "pleural effusion" ], "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": "1.556", "version_created": "2026-04-02T15:01:45.343217+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MRP6", "EST349056", "MLP1", "URG7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:57", "gene_name": "ATP binding cassette subfamily C member 6", "omim_gene": [ "603234" ], "alias_name": null, "gene_symbol": "ABCC6", "hgnc_symbol": "ABCC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:16242785-16317379", "ensembl_id": "ENSG00000091262" } }, "GRch38": { "90": { "location": "16:16148928-16223522", "ensembl_id": "ENSG00000091262" } } }, "hgnc_date_symbol_changed": "1997-10-27" }, "entity_type": "gene", "entity_name": "ABCC6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Mackenzie's Mission" ], "phenotypes": [ "Pseudoxanthoma elasticum MIM#264800", "Arterial calcification, generalized, of infancy, 2 MIM#614473" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MCCA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6936", "gene_name": "methylcrotonoyl-CoA carboxylase 1", "omim_gene": [ "609010" ], "alias_name": [ "methylcrotonoyl-CoA carboxylase alpha" ], "gene_symbol": "MCCC1", "hgnc_symbol": "MCCC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:182733006-182833863", "ensembl_id": "ENSG00000078070" } }, "GRch38": { "90": { "location": "3:183015218-183116075", "ensembl_id": "ENSG00000078070" } } }, "hgnc_date_symbol_changed": "1992-12-07" }, "entity_type": "gene", "entity_name": "MCCC1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31730530" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC: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": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Tetralogy of Fallot" ], "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": [ "DAPLE", "HkRP2", "SCA40" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19967", "gene_name": "coiled-coil domain containing 88C", "omim_gene": [ "611204" ], "alias_name": [ "Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40" ], "gene_symbol": "CCDC88C", "hgnc_symbol": "CCDC88C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:91737667-91884188", "ensembl_id": "ENSG00000015133" } }, "GRch38": { "90": { "location": "14:91271323-91417844", "ensembl_id": "ENSG00000015133" } } }, "hgnc_date_symbol_changed": "2007-05-31" }, "entity_type": "gene", "entity_name": "CCDC88C", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Hydrocephalus" ], "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": [ "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": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Congenital cataracts - facial dysmorphism - neuropathy" ], "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": [ "OST", "KIAA0115", "OST48", "WBP1", "GATD6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2728", "gene_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit", "omim_gene": [ "602202" ], "alias_name": [ "oligosaccharyltransferase subunit 48", "advanced glycation end-product receptor 1" ], "gene_symbol": "DDOST", "hgnc_symbol": "DDOST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:20978270-20988000", "ensembl_id": "ENSG00000244038" } }, "GRch38": { "90": { "location": "1:20651767-20661544", "ensembl_id": "ENSG00000244038" } } }, "hgnc_date_symbol_changed": "1997-12-23" }, "entity_type": "gene", "entity_name": "DDOST", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ir" ], "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": [ "THP2", "HPE9", "THP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4318", "gene_name": "GLI family zinc finger 2", "omim_gene": [ "165230" ], "alias_name": [ "tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2" ], "gene_symbol": "GLI2", "hgnc_symbol": "GLI2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:121493199-121750229", "ensembl_id": "ENSG00000074047" } }, "GRch38": { "90": { "location": "2:120735623-120992653", "ensembl_id": "ENSG00000074047" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "GLI2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Holoprosencephaly-9" ], "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:6444", "gene_name": "keratin 6B", "omim_gene": [ "148042" ], "alias_name": null, "gene_symbol": "KRT6B", "hgnc_symbol": "KRT6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52840435-52845910", "ensembl_id": "ENSG00000185479" } }, "GRch38": { "90": { "location": "12:52446651-52452126", "ensembl_id": "ENSG00000185479" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "KRT6B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Pachyonychia congenita" ], "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:6638", "gene_name": "lamin B2", "omim_gene": [ "150341" ], "alias_name": null, "gene_symbol": "LMNB2", "hgnc_symbol": "LMNB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:2427636-2456994", "ensembl_id": "ENSG00000176619" } }, "GRch38": { "90": { "location": "19:2427638-2456996", "ensembl_id": "ENSG00000176619" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "LMNB2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Lipodystrophy, partial" ], "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": [ "AP2-B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11743", "gene_name": "transcription factor AP-2 beta", "omim_gene": [ "601601" ], "alias_name": null, "gene_symbol": "TFAP2B", "hgnc_symbol": "TFAP2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:50786436-50815326", "ensembl_id": "ENSG00000008196" } }, "GRch38": { "90": { "location": "6:50818723-50847613", "ensembl_id": "ENSG00000008196" } } }, "hgnc_date_symbol_changed": "1995-12-18" }, "entity_type": "gene", "entity_name": "TFAP2B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Char syndrome, MIM 169100" ], "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": [ "hUNC18", "MUNC18-1", "UNC18", "rbSec1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11444", "gene_name": "syntaxin binding protein 1", "omim_gene": [ "602926" ], "alias_name": [ "syntaxin-binding protein 1" ], "gene_symbol": "STXBP1", "hgnc_symbol": "STXBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:130374544-130457460", "ensembl_id": "ENSG00000136854" } }, "GRch38": { "90": { "location": "9:127579370-127696027", "ensembl_id": "ENSG00000136854" } } }, "hgnc_date_symbol_changed": "1996-12-27" }, "entity_type": "gene", "entity_name": "STXBP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Developmental and epileptic encephalopathy 4, MIM# 612164" ], "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": [ "NHE6", "KIAA0267" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11079", "gene_name": "solute carrier family 9 member A6", "omim_gene": [ "300231" ], "alias_name": null, "gene_symbol": "SLC9A6", "hgnc_symbol": "SLC9A6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:135067598-135129423", "ensembl_id": "ENSG00000198689" } }, "GRch38": { "90": { "location": "X:135973841-136047269", "ensembl_id": "ENSG00000198689" } } }, "hgnc_date_symbol_changed": "1999-07-30" }, "entity_type": "gene", "entity_name": "SLC9A6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Mental retardation, X-linked syndromic, Christianson type, MIM# 300243" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "CLN1", "INCL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9325", "gene_name": "palmitoyl-protein thioesterase 1", "omim_gene": [ "600722" ], "alias_name": [ "ceroid-lipofuscinosis, neuronal 1, infantile" ], "gene_symbol": "PPT1", "hgnc_symbol": "PPT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:40538379-40563375", "ensembl_id": "ENSG00000131238" } }, "GRch38": { "90": { "location": "1:40071461-40097727", "ensembl_id": "ENSG00000131238" } } }, "hgnc_date_symbol_changed": "2000-06-09" }, "entity_type": "gene", "entity_name": "PPT1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21990111" ], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 1, MIM# 256730" ], "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": [ "PAHX", "RD", "PHYH1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8940", "gene_name": "phytanoyl-CoA 2-hydroxylase", "omim_gene": [ "602026" ], "alias_name": [ "Refsum disease", "phytanoyl-CoA dioxygenase" ], "gene_symbol": "PHYH", "hgnc_symbol": "PHYH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:13319796-13344412", "ensembl_id": "ENSG00000107537" } }, "GRch38": { "90": { "location": "10:13277796-13302412", "ensembl_id": "ENSG00000107537" } } }, "hgnc_date_symbol_changed": "1997-10-27" }, "entity_type": "gene", "entity_name": "PHYH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Refsum disease, MIM# 266500" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RNF69" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8851", "gene_name": "peroxisomal biogenesis factor 10", "omim_gene": [ "602859" ], "alias_name": null, "gene_symbol": "PEX10", "hgnc_symbol": "PEX10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:2336236-2345236", "ensembl_id": "ENSG00000157911" } }, "GRch38": { "90": { "location": "1:2403964-2413797", "ensembl_id": "ENSG00000157911" } } }, "hgnc_date_symbol_changed": "1998-08-05" }, "entity_type": "gene", "entity_name": "PEX10", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)" ], "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": [ "D11S812E", "AN", "WAGR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8620", "gene_name": "paired box 6", "omim_gene": [ "607108" ], "alias_name": [ "aniridia, keratitis" ], "gene_symbol": "PAX6", "hgnc_symbol": "PAX6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:31806340-31839509", "ensembl_id": "ENSG00000007372" } }, "GRch38": { "90": { "location": "11:31784779-31818062", "ensembl_id": "ENSG00000007372" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PAX6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Aniridia, OMIM 106210" ], "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": [ "P2Y12", "SP1999", "HORK3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18124", "gene_name": "purinergic receptor P2Y12", "omim_gene": [ "600515" ], "alias_name": null, "gene_symbol": "P2RY12", "hgnc_symbol": "P2RY12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:151055168-151102600", "ensembl_id": "ENSG00000169313" } }, "GRch38": { "90": { "location": "3:151337380-151384812", "ensembl_id": "ENSG00000169313" } } }, "hgnc_date_symbol_changed": "2002-12-10" }, "entity_type": "gene", "entity_name": "P2RY12", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29117459", "11196645", "19237732", "12578987" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Bleeding disorder, platelet-type, 8, MIM# 609821", "MONDO:0012354" ], "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:6654", "gene_name": "LIM homeobox transcription factor 1 beta", "omim_gene": [ "602575" ], "alias_name": null, "gene_symbol": "LMX1B", "hgnc_symbol": "LMX1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:129376722-129463311", "ensembl_id": "ENSG00000136944" } }, "GRch38": { "90": { "location": "9:126614443-126701032", "ensembl_id": "ENSG00000136944" } } }, "hgnc_date_symbol_changed": "1998-02-11" }, "entity_type": "gene", "entity_name": "LMX1B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Nail-patella syndrome, MIM# 161200, MONDO:0008061" ], "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:3535", "gene_name": "coagulation factor II, thrombin", "omim_gene": [ "176930" ], "alias_name": [ "prepro-coagulation factor II" ], "gene_symbol": "F2", "hgnc_symbol": "F2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:46740730-46761056", "ensembl_id": "ENSG00000180210" } }, "GRch38": { "90": { "location": "11:46719180-46739506", "ensembl_id": "ENSG00000180210" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "F2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Dysprothrombinemia MIM#613679", "Hypoprothrombinemia MIM#613679", "Thrombophilia due to thrombin defect MIM#188050" ], "mode_of_inheritance": "BOTH monoallelic and 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": [ "BP180" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2194", "gene_name": "collagen type XVII alpha 1 chain", "omim_gene": [ "113811" ], "alias_name": null, "gene_symbol": "COL17A1", "hgnc_symbol": "COL17A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:105791044-105845760", "ensembl_id": "ENSG00000065618" } }, "GRch38": { "90": { "location": "10:104031286-104086002", "ensembl_id": "ENSG00000065618" } } }, "hgnc_date_symbol_changed": "1993-09-27" }, "entity_type": "gene", "entity_name": "COL17A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Epidermolysis bullosa, junctional 4, intermediate MIM#619787" ], "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": [ "KIAA0986" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1908", "gene_name": "vacuolar protein sorting 13 homolog A", "omim_gene": [ "605978" ], "alias_name": [ "chorein" ], "gene_symbol": "VPS13A", "hgnc_symbol": "VPS13A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:79792269-80036457", "ensembl_id": "ENSG00000197969" } }, "GRch38": { "90": { "location": "9:77177353-77421541", "ensembl_id": "ENSG00000197969" } } }, "hgnc_date_symbol_changed": "2004-02-11" }, "entity_type": "gene", "entity_name": "VPS13A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Choreoacanthocytosis MIM#200150" ], "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": [ "GDD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27337", "gene_name": "anoctamin 5", "omim_gene": [ "608662" ], "alias_name": null, "gene_symbol": "ANO5", "hgnc_symbol": "ANO5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:22214722-22304903", "ensembl_id": "ENSG00000171714" } }, "GRch38": { "90": { "location": "11:22193176-22283357", "ensembl_id": "ENSG00000171714" } } }, "hgnc_date_symbol_changed": "2008-08-28" }, "entity_type": "gene", "entity_name": "ANO5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "BabySeq Category A gene", "Expert Review Red" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, type 2L", "Gnathodiaphyseal dysplasia" ], "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": [ "RALDH2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15472", "gene_name": "aldehyde dehydrogenase 1 family member A2", "omim_gene": [ "603687" ], "alias_name": [ "retinaldehyde dehydrogenase 2" ], "gene_symbol": "ALDH1A2", "hgnc_symbol": "ALDH1A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:58245622-58790065", "ensembl_id": "ENSG00000128918" } }, "GRch38": { "90": { "location": "15:57953424-58497866", "ensembl_id": "ENSG00000128918" } } }, "hgnc_date_symbol_changed": "2001-03-30" }, "entity_type": "gene", "entity_name": "ALDH1A2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Tetralogy of Fallot" ], "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": [ "TAFII105" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11538", "gene_name": "TATA-box binding protein associated factor 4b", "omim_gene": [ "601689" ], "alias_name": [ "TATA box binding protein (TBP)-associated factor 4B" ], "gene_symbol": "TAF4B", "hgnc_symbol": "TAF4B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:23805900-23971649", "ensembl_id": "ENSG00000141384" } }, "GRch38": { "90": { "location": "18:26225936-26391685", "ensembl_id": "ENSG00000141384" } } }, "hgnc_date_symbol_changed": "2001-12-07" }, "entity_type": "gene", "entity_name": "TAF4B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24431330", "15774719" ], "evidence": [ "Literature", "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.137", "version_created": "2026-03-31T15:48:32.205924+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 264, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NRP", "VEGF165R", "CD304" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8004", "gene_name": "neuropilin 1", "omim_gene": [ "602069" ], "alias_name": null, "gene_symbol": "NRP1", "hgnc_symbol": "NRP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:33466420-33625190", "ensembl_id": "ENSG00000099250" } }, "GRch38": { "90": { "location": "10:33177492-33336262", "ensembl_id": "ENSG00000099250" } } }, "hgnc_date_symbol_changed": "1998-12-23" }, "entity_type": "gene", "entity_name": "NRP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34636164", "28334861" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism MONDO:0018555" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37500-Loss", "verbose_name": "Chromosome 15q25 deletion syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "20921022", "24352913" ], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 15q25 deletion syndrome\tMIM#614294", "intellectual disability", "congenital abnormalities", "haematological abnormalities" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 82534141, 84045981 ], "tags": [], "panel": { "id": 163, "hash_id": null, "name": "Radial Ray Abnormalities", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.21", "version_created": "2026-01-15T11:51:47.687282+11:00", "relevant_disorders": [ "Abnormality of radial ray", "HP:0410049" ], "stats": { "number_of_genes": 62, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37430-Loss", "verbose_name": "Miller-Dieker syndrome, chromosome 17p13.3 deletion syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "Miller-Dieker lissencephaly syndrome, MIM#\t247200" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 1344539, 2685615 ], "tags": [], "panel": { "id": 205, "hash_id": null, "name": "Callosome", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.593", "version_created": "2026-04-02T11:47:10.809612+11:00", "relevant_disorders": [ "Abnormal corpus callosum morphology", "HP:0001273" ], "stats": { "number_of_genes": 459, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37423-Loss", "verbose_name": "8p23.1 deletion syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "23696316", "23011633", "20969981" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "8p23.1 deletion syndrome", "congenital heart disease", "developmental delay" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "8", "grch37_coordinates": null, "grch38_coordinates": [ 8261773, 11908210 ], "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": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37433-Loss", "verbose_name": "DiGeorge syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "DiGeorge syndrome MIM#188400" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 18924718, 20299686 ], "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37397-Loss", "verbose_name": "Chromosome 22q11.2 deletion syndrome, distal, MIM#611867", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "21671380", "23765049", "18179902" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Chromosome 22q11.2 deletion syndrome, distal, MIM#611867", "intellectual disability", "seizures", "growth retardation", "multiple congenital anomalies" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 21443089, 23306926 ], "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": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37501-Loss", "verbose_name": "17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "20206336", "22052739" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 17q23.1-q23.2 deletion syndrome, 613355", "PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities", "PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 60035641, 62198448 ], "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37404-Gain", "verbose_name": "Chromosome 15q11q13 duplication syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": null, "triplosensitivity_score": "3", "required_overlap_percentage": 80, "type_of_variants": "cnv_gain", "publications": [ "24239951", "24075935" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 15q11q13 duplication syndrome", "{Autism susceptibility 4}\t608636", "intellectual disability", "seizures", "ataxia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 22782170, 28134729 ], "tags": [ "SV/CNV" ], "panel": { "id": 3443, "hash_id": null, "name": "Common deletion and duplication syndromes", "disease_group": "", "disease_sub_group": "", "description": "Under construction", "status": "public", "version": "0.156", "version_created": "2026-02-06T14:14:01.107904+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 0, "number_of_regions": 71 }, "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37439-Gain", "verbose_name": "Chromosome Xq28 duplication syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": null, "triplosensitivity_score": "3", "required_overlap_percentage": 80, "type_of_variants": "cnv_gain", "publications": [ "PMID: 20004760" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome Xq28 duplication syndrome MIM#300815" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "chromosome": "X", "grch37_coordinates": null, "grch38_coordinates": [ 154336276, 154660745 ], "tags": [], "panel": { "id": 3443, "hash_id": null, "name": "Common deletion and duplication syndromes", "disease_group": "", "disease_sub_group": "", "description": "Under construction", "status": "public", "version": "0.156", "version_created": "2026-02-06T14:14:01.107904+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 0, "number_of_regions": 71 }, "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-46303-Loss", "verbose_name": "SOX9 upstream enhancer loss", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "PMID: 24934569, 26663529, 19234473, 26152199, 30552336" ], "evidence": [ "ClinGen" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 69896855, 71796293 ], "tags": [], "panel": { "id": 3443, "hash_id": null, "name": "Common deletion and duplication syndromes", "disease_group": "", "disease_sub_group": "", "description": "Under construction", "status": "public", "version": "0.156", "version_created": "2026-02-06T14:14:01.107904+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 0, "number_of_strs": 0, "number_of_regions": 71 }, "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37478-Loss", "verbose_name": "Angelman and Prader-Willi syndromes, Class 2 BP2-BP3 deletions", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "22045295" ], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "Angelman syndrome, MIM# 105830", "Prader-Willi syndrome, MIM# 176270" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 23513243, 28312040 ], "tags": [ "SV/CNV" ], "panel": { "id": 3471, "hash_id": null, "name": "Congenital hypothyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.120", "version_created": "2026-04-02T11:51:29.895216+11:00", "relevant_disorders": [ "Hypothyroidism HP:0000821" ], "stats": { "number_of_genes": 63, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] } }, { "gene_data": { "alias": [ "RTS", "CBP", "KAT3A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2348", "gene_name": "CREB binding protein", "omim_gene": [ "600140" ], "alias_name": null, "gene_symbol": "CREBBP", "hgnc_symbol": "CREBBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:3775055-3930727", "ensembl_id": "ENSG00000005339" } }, "GRch38": { "90": { "location": "16:3725054-3880726", "ensembl_id": "ENSG00000005339" } } }, "hgnc_date_symbol_changed": "1995-01-10" }, "entity_type": "region", "entity_name": "ISCA-37406-Loss", "verbose_name": "Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "20101707", "17473832", "16783566" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "16", "grch37_coordinates": null, "grch38_coordinates": [ 3725055, 3880120 ], "tags": [ "SV/CNV" ], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37467-Gain", "verbose_name": "Chromosome 7q36.3 duplication syndrome (SHH cis-regulatory duplication, ZRS)", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": null, "triplosensitivity_score": "3", "required_overlap_percentage": 80, "type_of_variants": "cnv_gain", "publications": [ "19847792", "33218365", "32184803", "28035386", "25944787" ], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "Syndactyly, type IV, MIM#\t186200", "limb anomalies", "congenital heart disease", "congenital anomalies" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "7", "grch37_coordinates": null, "grch38_coordinates": [ 156791102, 156791874 ], "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": "0.85", "version_created": "2026-03-26T15:53:21.747538+11:00", "relevant_disorders": [ "Abnormal hand morphology", "HP:0005922; Abnormal foot morphology", "HP:0001760" ], "stats": { "number_of_genes": 101, "number_of_strs": 1, "number_of_regions": 4 }, "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37478-Loss", "verbose_name": "Angelman and Prader-Willi syndromes, Class 2 BP2-BP3 deletions", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "22045295" ], "evidence": [ "Expert list", "Expert Review Green", "Expert Review Green", "Expert list" ], "phenotypes": [ "Angelman syndrome, MIM# 105830", "Prader-Willi syndrome, MIM# 176270" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 23513243, 28312040 ], "tags": [ "SV/CNV" ], "panel": { "id": 3764, "hash_id": null, "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.", "status": "public", "version": "1.30", "version_created": "2026-03-18T15:16:42.995334+11:00", "relevant_disorders": [ "Obesity", "HP:0001513" ], "stats": { "number_of_genes": 59, "number_of_strs": 0, "number_of_regions": 3 }, "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": [] } } ] }