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GET /api/v1/entities/?format=api&page=355
{ "count": 36022, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=356", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=354", "results": [ { "gene_data": { "alias": [ "B37" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3033", "gene_name": "atrophin 1", "omim_gene": [ "607462" ], "alias_name": null, "gene_symbol": "ATN1", "hgnc_symbol": "ATN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7033626-7051484", "ensembl_id": "ENSG00000111676" } }, "GRch38": { "90": { "location": "12:6924463-6942321", "ensembl_id": "ENSG00000111676" } } }, "hgnc_date_symbol_changed": "2005-03-17" }, "entity_type": "gene", "entity_name": "ATN1", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "7633415" ], "evidence": [ "Expert Review Removed", "Expert list" ], "phenotypes": [ "Dentatorubral-pallidoluysian atrophy MIM#125370" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "STR" ], "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": [] }, { "gene_data": { "alias": [ "CLG3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7159", "gene_name": "matrix metallopeptidase 13", "omim_gene": [ "600108" ], "alias_name": [ "collagenase 3" ], "gene_symbol": "MMP13", "hgnc_symbol": "MMP13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:102813724-102826463", "ensembl_id": "ENSG00000137745" } }, "GRch38": { "90": { "location": "11:102942995-102955734", "ensembl_id": "ENSG00000137745" } } }, "hgnc_date_symbol_changed": "1994-11-20" }, "entity_type": "gene", "entity_name": "MMP13", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19615667", "24781753", "24648384" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Perinatal Autopsy Flagship" ], "phenotypes": [ "Metaphyseal anadysplasia 1 (MIM#602111)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "MAST205", "KIAA0807" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19035", "gene_name": "microtubule associated serine/threonine kinase 2", "omim_gene": [ "612257" ], "alias_name": null, "gene_symbol": "MAST2", "hgnc_symbol": "MAST2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:46252659-46501796", "ensembl_id": "ENSG00000086015" } }, "GRch38": { "90": { "location": "1:45786987-46036124", "ensembl_id": "ENSG00000086015" } } }, "hgnc_date_symbol_changed": "2004-02-10" }, "entity_type": "gene", "entity_name": "MAST2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33465109" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Thrombophilia", "venous thrombosis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 54, "hash_id": null, "name": "Bleeding and Platelet Disorders", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.", "status": "public", "version": "1.76", "version_created": "2026-03-24T18:30:58.578812+11:00", "relevant_disorders": [ "Abnormal bleeding", "HP:0001892;Abnormal thrombosis", "HP:0001977" ], "stats": { "number_of_genes": 140, "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": [ "OP-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1074", "gene_name": "bone morphogenetic protein 7", "omim_gene": [ "112267" ], "alias_name": [ "osteogenic protein 1" ], "gene_symbol": "BMP7", "hgnc_symbol": "BMP7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:55743804-55841685", "ensembl_id": "ENSG00000101144" } }, "GRch38": { "90": { "location": "20:57168748-57266629", "ensembl_id": "ENSG00000101144" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "BMP7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24429398" ], "evidence": [ "Expert list", "Expert Review Red", "Expert Review Red", "Expert list" ], "phenotypes": [ "Congenital abnormalities of the kidneys and urinary tract" ], "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3091", "gene_name": "dual specificity tyrosine phosphorylation regulated kinase 1A", "omim_gene": [ "600855" ], "alias_name": null, "gene_symbol": "DYRK1A", "hgnc_symbol": "DYRK1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:38738092-38889753", "ensembl_id": "ENSG00000157540" } }, "GRch38": { "90": { "location": "21:37365790-37517450", "ensembl_id": "ENSG00000157540" } } }, "hgnc_date_symbol_changed": "1999-01-29" }, "entity_type": "gene", "entity_name": "DYRK1A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28053047", "25944381" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "congenital cataracts" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [] }, { "gene_data": { "alias": [ "POLRA", "RPB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9187", "gene_name": "RNA polymerase II subunit A", "omim_gene": [ "180660" ], "alias_name": [ "DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1" ], "gene_symbol": "POLR2A", "hgnc_symbol": "POLR2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7387685-7417933", "ensembl_id": "ENSG00000181222" } }, "GRch38": { "90": { "location": "17:7484366-7514616", "ensembl_id": "ENSG00000181222" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "POLR2A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38168508" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM#618603" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "EAR-3", "COUP-TFI", "TCFCOUP1", "SVP44" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7975", "gene_name": "nuclear receptor subfamily 2 group F member 1", "omim_gene": [ "132890" ], "alias_name": null, "gene_symbol": "NR2F1", "hgnc_symbol": "NR2F1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:92919043-92930321", "ensembl_id": "ENSG00000175745" } }, "GRch38": { "90": { "location": "5:93583337-93594615", "ensembl_id": "ENSG00000175745" } } }, "hgnc_date_symbol_changed": "1995-03-21" }, "entity_type": "gene", "entity_name": "NR2F1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM#615722", "NR2F1-related neurodevelopmental disorder" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "CNR5", "CRNR5", "CNRN5", "PCDH-ALPHA13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8667", "gene_name": "protocadherin alpha 13", "omim_gene": [ "606319" ], "alias_name": [ "KIAA0345-like 1", "ortholog of mouse CNR5" ], "gene_symbol": "PCDHA13", "hgnc_symbol": "PCDHA13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:140261793-140391929", "ensembl_id": "ENSG00000239389" } }, "GRch38": { "90": { "location": "5:140882208-141012344", "ensembl_id": "ENSG00000239389" } } }, "hgnc_date_symbol_changed": "2000-06-28" }, "entity_type": "gene", "entity_name": "PCDHA13", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40988636" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hypoplastic left heart syndrome, MONDO:0004933" ], "mode_of_inheritance": "Other", "tags": [], "panel": { "id": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.534", "version_created": "2026-03-30T13:14:35.719896+11:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 253, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "OSTalpha" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29955", "gene_name": "solute carrier family 51 alpha subunit", "omim_gene": [ "612084" ], "alias_name": [ "organic solute transporter, alpha subunit" ], "gene_symbol": "SLC51A", "hgnc_symbol": "SLC51A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:195938358-195970049", "ensembl_id": "ENSG00000163959" } }, "GRch38": { "90": { "location": "3:196211487-196243178", "ensembl_id": "ENSG00000163959" } } }, "hgnc_date_symbol_changed": "2012-08-03" }, "entity_type": "gene", "entity_name": "SLC51A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31863603" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cholestasis, progressive familial intrahepatic, 6, MIM#\t619484" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 78, "hash_id": null, "name": "Cholestasis", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.10", "version_created": "2026-03-26T17:26:27.105917+11:00", "relevant_disorders": [ "Cholestasis HP:0001396" ], "stats": { "number_of_genes": 99, "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": [ "C6ST", "C6ST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1971", "gene_name": "carbohydrate sulfotransferase 3", "omim_gene": [ "603799" ], "alias_name": [ "chondroitin 6 sulfotransferase 1" ], "gene_symbol": "CHST3", "hgnc_symbol": "CHST3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73724123-73773322", "ensembl_id": "ENSG00000122863" } }, "GRch38": { "90": { "location": "10:71964365-72013564", "ensembl_id": "ENSG00000122863" } } }, "hgnc_date_symbol_changed": "1999-04-15" }, "entity_type": "gene", "entity_name": "CHST3", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "24300290" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [] }, { "gene_data": { "alias": [ "MGC23920" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18072", "gene_name": "RAB, member of RAS oncogene family like 3", "omim_gene": null, "alias_name": null, "gene_symbol": "RABL3", "hgnc_symbol": "RABL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:120405528-120461840", "ensembl_id": "ENSG00000144840" } }, "GRch38": { "90": { "location": "3:120686681-120742993", "ensembl_id": "ENSG00000144840" } } }, "hgnc_date_symbol_changed": "2002-02-18" }, "entity_type": "gene", "entity_name": "RABL3", "confidence_level": "1", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "31406347", "33353859", "33724601" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "pancreatic carcinoma" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 126, "hash_id": null, "name": "Incidentalome", "disease_group": "", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).", "status": "public", "version": "0.433", "version_created": "2026-03-25T17:03:27.624542+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 161, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDC47", "PPP1R104" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6950", "gene_name": "minichromosome maintenance complex component 7", "omim_gene": [ "600592" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 104" ], "gene_symbol": "MCM7", "hgnc_symbol": "MCM7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:99690351-99699563", "ensembl_id": "ENSG00000166508" } }, "GRch38": { "90": { "location": "7:100092728-100101940", "ensembl_id": "ENSG00000166508" } } }, "hgnc_date_symbol_changed": "1994-12-13" }, "entity_type": "gene", "entity_name": "MCM7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33654309", "34059554" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Syndromic disease, MONDO:0002254, MCM7-related", "Meier-Gorlin syndrome", "Microcephaly", "Intellectual disability", "Lipodystrophy", "Adrenal insufficiency" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 130, "hash_id": null, "name": "Lipodystrophy_Lipoatrophy", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.", "status": "public", "version": "1.42", "version_created": "2026-02-17T18:29:33.924527+11:00", "relevant_disorders": [ "Lipodystrophy", "HP:0009125" ], "stats": { "number_of_genes": 39, "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": [ "5-HTT", "SERT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11050", "gene_name": "solute carrier family 6 member 4", "omim_gene": [ "182138" ], "alias_name": [ "serotonin transporter 1" ], "gene_symbol": "SLC6A4", "hgnc_symbol": "SLC6A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:28521337-28563020", "ensembl_id": "ENSG00000108576" } }, "GRch38": { "90": { "location": "17:30194319-30236002", "ensembl_id": "ENSG00000108576" } } }, "hgnc_date_symbol_changed": "1994-03-16" }, "entity_type": "gene", "entity_name": "SLC6A4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31629822" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Autism spectrum disorder MONDO:0005258" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [ "FLJ38508", "mtFDH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26777", "gene_name": "aldehyde dehydrogenase 1 family member L2", "omim_gene": [ "613584" ], "alias_name": [ "mitochondrial 10-formyltetrahydrofolate dehydrogenase" ], "gene_symbol": "ALDH1L2", "hgnc_symbol": "ALDH1L2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:105413568-105478355", "ensembl_id": "ENSG00000136010" } }, "GRch38": { "90": { "location": "12:105019784-105084577", "ensembl_id": "ENSG00000136010" } } }, "hgnc_date_symbol_changed": "2005-01-25" }, "entity_type": "gene", "entity_name": "ALDH1L2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 31341639", "33168096" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks" ], "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": [ "A8-51", "KOX25", "PP838", "FLJ20216", "HF.12", "Zfp113" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13089", "gene_name": "zinc finger protein 3", "omim_gene": [ "194510" ], "alias_name": null, "gene_symbol": "ZNF3", "hgnc_symbol": "ZNF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:99661656-99680171", "ensembl_id": "ENSG00000166526" } }, "GRch38": { "90": { "location": "7:100064033-100082548", "ensembl_id": "ENSG00000166526" } } }, "hgnc_date_symbol_changed": "1989-05-31" }, "entity_type": "gene", "entity_name": "ZNF3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32732226" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hydrocephalus", "cleft palate", "microphthalmia" ], "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": [] }, { "gene_data": { "alias": [ "KIAA0744", "HDAC", "MITR", "HD7", "HDAC7B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14065", "gene_name": "histone deacetylase 9", "omim_gene": [ "606543" ], "alias_name": null, "gene_symbol": "HDAC9", "hgnc_symbol": "HDAC9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:18126572-19042039", "ensembl_id": "ENSG00000048052" } }, "GRch38": { "90": { "location": "7:18086949-19002416", "ensembl_id": "ENSG00000048052" } } }, "hgnc_date_symbol_changed": "2002-09-06" }, "entity_type": "gene", "entity_name": "HDAC9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34750192", "35710300", "38318288" ], "evidence": [ "ClinGen" ], "phenotypes": [ "Auriculocondylar syndrome MONDO:0000107" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "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": [] }, { "gene_data": { "alias": [ "HUSI-II" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11245", "gene_name": "serine peptidase inhibitor, Kazal type 2", "omim_gene": [ "605753" ], "alias_name": [ "acrosin-trypsin inhibitor" ], "gene_symbol": "SPINK2", "hgnc_symbol": "SPINK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:57676026-57687908", "ensembl_id": "ENSG00000128040" } }, "GRch38": { "90": { "location": "4:56809860-56821742", "ensembl_id": "ENSG00000128040" } } }, "hgnc_date_symbol_changed": "1993-12-01" }, "entity_type": "gene", "entity_name": "SPINK2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28554943" ], "evidence": [ "Literature" ], "phenotypes": [ "spermatogenic failure MONDO:0004983" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4716", "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": [ "TAFII28" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11544", "gene_name": "TATA-box binding protein associated factor 11", "omim_gene": [ "600772" ], "alias_name": null, "gene_symbol": "TAF11", "hgnc_symbol": "TAF11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:34845555-34855866", "ensembl_id": "ENSG00000064995" } }, "GRch38": { "90": { "location": "6:34877778-34888089", "ensembl_id": "ENSG00000064995" } } }, "hgnc_date_symbol_changed": "2001-12-07" }, "entity_type": "gene", "entity_name": "TAF11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39727181" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "cleft lip MONDO:0004747" ], "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": [ "MGC33864" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24048", "gene_name": "ADP ribosylation factor like GTPase 6 interacting protein 6", "omim_gene": [ "616495" ], "alias_name": null, "gene_symbol": "ARL6IP6", "hgnc_symbol": "ARL6IP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:153574407-153617767", "ensembl_id": "ENSG00000177917" } }, "GRch38": { "90": { "location": "2:152717893-152761253", "ensembl_id": "ENSG00000177917" } } }, "hgnc_date_symbol_changed": "2004-11-29" }, "entity_type": "gene", "entity_name": "ARL6IP6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31142202" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cutis marmorata telangiectatica congenita" ], "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": [] }, { "gene_data": { "alias": [ "MGC33365", "DIA1", "HASF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28490", "gene_name": "chromosome 3 open reading frame 58", "omim_gene": [ "612200" ], "alias_name": [ "deleted in autism 1", "hypoxia and Akt induced stem cell factor" ], "gene_symbol": "C3orf58", "hgnc_symbol": "C3orf58", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:143690640-143767561", "ensembl_id": "ENSG00000181744" } }, "GRch38": { "90": { "location": "3:143971798-144048719", "ensembl_id": "ENSG00000181744" } } }, "hgnc_date_symbol_changed": "2006-02-07" }, "entity_type": "gene", "entity_name": "C3orf58", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2228", "gene_name": "catechol-O-methyltransferase", "omim_gene": [ "116790" ], "alias_name": null, "gene_symbol": "COMT", "hgnc_symbol": "COMT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:19929130-19957498", "ensembl_id": "ENSG00000093010" } }, "GRch38": { "90": { "location": "22:19941607-19969975", "ensembl_id": "ENSG00000093010" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COMT", "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": [ "GDH", "lambda-CRY", "MGC149525", "MGC149526" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18246", "gene_name": "crystallin lambda 1", "omim_gene": [ "609877" ], "alias_name": [ "crystallin, lamda 1", "L-gulonate 3-dehydrogenase", "lambda-crystallin homolog" ], "gene_symbol": "CRYL1", "hgnc_symbol": "CRYL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:20977806-21099996", "ensembl_id": "ENSG00000165475" } }, "GRch38": { "90": { "location": "13:20403667-20525857", "ensembl_id": "ENSG00000165475" } } }, "hgnc_date_symbol_changed": "2002-02-22" }, "entity_type": "gene", "entity_name": "CRYL1", "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": [ "pDP1678", "MGC126442" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15964", "gene_name": "deleted in azoospermia 2", "omim_gene": [ "400026" ], "alias_name": null, "gene_symbol": "DAZ2", "hgnc_symbol": "DAZ2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "Y:25365594-25437503", "ensembl_id": "ENSG00000205944" } }, "GRch38": { "90": { "location": "Y:23219434-23291356", "ensembl_id": "ENSG00000205944" } } }, "hgnc_date_symbol_changed": "2001-06-25" }, "entity_type": "gene", "entity_name": "DAZ2", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4012", "gene_name": "fucosyltransferase 1 (H blood group)", "omim_gene": [ "211100" ], "alias_name": [ "galactoside 2-alpha-L-fucosyltransferase" ], "gene_symbol": "FUT1", "hgnc_symbol": "FUT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:49251268-49258647", "ensembl_id": "ENSG00000174951" } }, "GRch38": { "90": { "location": "19:48748011-48755390", "ensembl_id": "ENSG00000174951" } } }, "hgnc_date_symbol_changed": "1989-06-06" }, "entity_type": "gene", "entity_name": "FUT1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7912436", "21804525" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "[Bombay phenotype] MIM#616754" ], "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": [ "Lgl1", "Mgl1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6628", "gene_name": "LLGL1, scribble cell polarity complex component", "omim_gene": [ "600966" ], "alias_name": null, "gene_symbol": "LLGL1", "hgnc_symbol": "LLGL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:18128901-18148189", "ensembl_id": "ENSG00000131899" } }, "GRch38": { "90": { "location": "17:18225587-18244875", "ensembl_id": "ENSG00000131899" } } }, "hgnc_date_symbol_changed": "1995-09-12" }, "entity_type": "gene", "entity_name": "LLGL1", "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": [ "KIAA1437", "FLJ10337", "SWELL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19027", "gene_name": "leucine rich repeat containing 8 VRAC subunit A", "omim_gene": [ "608360" ], "alias_name": null, "gene_symbol": "LRRC8A", "hgnc_symbol": "LRRC8A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131644391-131680318", "ensembl_id": "ENSG00000136802" } }, "GRch38": { "90": { "location": "9:128882112-128918039", "ensembl_id": "ENSG00000136802" } } }, "hgnc_date_symbol_changed": "2005-06-29" }, "entity_type": "gene", "entity_name": "LRRC8A", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6902", "gene_name": "mannan binding lectin serine peptidase 2", "omim_gene": [ "605102" ], "alias_name": null, "gene_symbol": "MASP2", "hgnc_symbol": "MASP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:11086580-11107290", "ensembl_id": "ENSG00000009724" } }, "GRch38": { "90": { "location": "1:11026523-11047233", "ensembl_id": "ENSG00000009724" } } }, "hgnc_date_symbol_changed": "1998-12-17" }, "entity_type": "gene", "entity_name": "MASP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12904520" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "MASP2 deficiency, MIM# 613791" ], "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": [ "hsa-mir-5004" ], "biotype": null, "hgnc_id": "HGNC:43532", "gene_name": "microRNA 5004", "omim_gene": null, "alias_name": null, "gene_symbol": "MIR5004", "hgnc_symbol": "MIR5004", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33406108-33406214", "ensembl_id": "ENSG00000264085" } }, "GRch38": { "90": { "location": "6:33438331-33438437", "ensembl_id": "ENSG00000284256" } } }, "hgnc_date_symbol_changed": "2011-11-14" }, "entity_type": "gene", "entity_name": "MIR5004", "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": [ "MT6-MMP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14246", "gene_name": "matrix metallopeptidase 25", "omim_gene": [ "608482" ], "alias_name": null, "gene_symbol": "MMP25", "hgnc_symbol": "MMP25", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:3096682-3110727", "ensembl_id": "ENSG00000008516" } }, "GRch38": { "90": { "location": "16:3046681-3060726", "ensembl_id": "ENSG00000008516" } } }, "hgnc_date_symbol_changed": "2000-12-13" }, "entity_type": "gene", "entity_name": "MMP25", "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": [ "ESA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9204", "gene_name": "paraoxonase 1", "omim_gene": [ "168820" ], "alias_name": [ "esterase A", "arylesterase 1" ], "gene_symbol": "PON1", "hgnc_symbol": "PON1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:94926988-95025673", "ensembl_id": "ENSG00000005421" } }, "GRch38": { "90": { "location": "7:95297676-95324707", "ensembl_id": "ENSG00000005421" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PON1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Coronary artery disease, susceptibility to}" ], "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": [ "NTG", "KIAA0567", "FLJ12460", "NPG", "MGM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8140", "gene_name": "OPA1, mitochondrial dynamin like GTPase", "omim_gene": [ "605290" ], "alias_name": [ "mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial" ], "gene_symbol": "OPA1", "hgnc_symbol": "OPA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:193310933-193415612", "ensembl_id": "ENSG00000198836" } }, "GRch38": { "90": { "location": "3:193593144-193697823", "ensembl_id": "ENSG00000198836" } } }, "hgnc_date_symbol_changed": "1987-09-11" }, "entity_type": "gene", "entity_name": "OPA1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38982518" ], "evidence": [ "Expert Review Red", "Literature", "Expert list" ], "phenotypes": [ "congenital myopathy MONDO:0019952" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 141, "hash_id": null, "name": "Muscular dystrophy and myopathy_Paediatric", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.122", "version_created": "2026-04-02T11:45:25.115390+11:00", "relevant_disorders": [ "Muscular dystrophy", "HP:0003560; Elevated circulating creatine kinase concentration", "HP:0003236; Myopathy", "HP:0003198" ], "stats": { "number_of_genes": 146, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TCF1ALPHA", "TCF10", "TCF7L3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6551", "gene_name": "lymphoid enhancer binding factor 1", "omim_gene": [ "153245" ], "alias_name": null, "gene_symbol": "LEF1", "hgnc_symbol": "LEF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:108968701-109090112", "ensembl_id": "ENSG00000138795" } }, "GRch38": { "90": { "location": "4:108047545-108168956", "ensembl_id": "ENSG00000138795" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "LEF1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32022899" ], "evidence": [ "Expert Review Red", "Literature", "Expert Review Red", "Literature" ], "phenotypes": [ "Ectodermal dysplasia 17 with or without limb malformations, MIM# 621224" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 148, "hash_id": null, "name": "Oligodontia", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.33", "version_created": "2026-02-21T15:35:59.668194+11:00", "relevant_disorders": [ "Abnormal number of teeth HP:0006483" ], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC13061" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21158", "gene_name": "ring finger protein 135", "omim_gene": [ "611358" ], "alias_name": [ "riplet" ], "gene_symbol": "RNF135", "hgnc_symbol": "RNF135", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:29295803-29326929", "ensembl_id": "ENSG00000181481" } }, "GRch38": { "90": { "location": "17:30968785-30999911", "ensembl_id": "ENSG00000181481" } } }, "hgnc_date_symbol_changed": "2003-05-21" }, "entity_type": "gene", "entity_name": "RNF135", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 151, "hash_id": null, "name": "Overgrowth", "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 generalised overgrowth of prenatal or postnatal onset. Generalised overgrowth is characterised by a relatively proportionate increase in stature (length or height) and/or head circumference at least two standard deviations above the mean compared to the age‐related peer group. This panel does not contain genes causing segmental overgrowth.\r\n\r\nChromosomal testing/methylation studies are recommended prior to sequencing for the diagnosis of Beckwith-Wiedemann syndrome.\r\n\r\nPlease also refer to the Macrocephaly panel if head growth is primarily or disproportionately affected.", "status": "public", "version": "1.21", "version_created": "2026-04-01T17:27:51.801810+11:00", "relevant_disorders": [ "Overgrowth", "HP:0001548; Tall stature", "HP:0000098; Increased body weight", "HP:0004324" ], "stats": { "number_of_genes": 31, "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": [ "B14.7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20371", "gene_name": "NADH:ubiquinone oxidoreductase subunit A11", "omim_gene": [ "612638" ], "alias_name": [ "complex I B14.7 subunit" ], "gene_symbol": "NDUFA11", "hgnc_symbol": "NDUFA11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:5891287-5904017", "ensembl_id": "ENSG00000174886" } }, "GRch38": { "90": { "location": "19:5891276-5904006", "ensembl_id": "ENSG00000174886" } } }, "hgnc_date_symbol_changed": "2003-12-03" }, "entity_type": "gene", "entity_name": "NDUFA11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18306244", "31074871" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Epilepsy Flagship" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 14, MIM#618236" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ13621" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29086", "gene_name": "centrosomal protein 135", "omim_gene": [ "611423" ], "alias_name": null, "gene_symbol": "CEP135", "hgnc_symbol": "CEP135", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:56815037-56899529", "ensembl_id": "ENSG00000174799" } }, "GRch38": { "90": { "location": "4:55948871-56033363", "ensembl_id": "ENSG00000174799" } } }, "hgnc_date_symbol_changed": "2005-12-02" }, "entity_type": "gene", "entity_name": "CEP135", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30214071", "22521416", "26657937" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microcephalic primordial dwarfism", "Microcephaly 8, primary, autosomal recessive, 614673" ], "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": [ "FLJ43249", "LOC165186", "Crescerin-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:33715", "gene_name": "TOG array regulator of axonemal microtubules 2", "omim_gene": null, "alias_name": [ "crescerin 2" ], "gene_symbol": "TOGARAM2", "hgnc_symbol": "TOGARAM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:29179477-29284239", "ensembl_id": "ENSG00000189350" } }, "GRch38": { "90": { "location": "2:28956611-29061373", "ensembl_id": "ENSG00000189350" } } }, "hgnc_date_symbol_changed": "2017-01-13" }, "entity_type": "gene", "entity_name": "TOGARAM2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID:38374469" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": null }, { "gene_data": { "alias": [ "DAGK6", "DGK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2852", "gene_name": "diacylglycerol kinase epsilon", "omim_gene": [ "601440" ], "alias_name": null, "gene_symbol": "DGKE", "hgnc_symbol": "DGKE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:54911460-54946036", "ensembl_id": "ENSG00000153933" } }, "GRch38": { "90": { "location": "17:56834099-56869567", "ensembl_id": "ENSG00000153933" } } }, "hgnc_date_symbol_changed": "1998-10-02" }, "entity_type": "gene", "entity_name": "DGKE", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23274426", "23542698" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Nephrotic syndrome, type 7, MIM# 615008" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 211, "hash_id": null, "name": "Atypical Haemolytic Uraemic Syndrome_MPGN", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "Renal complement disorders panel including atypical Haemolytic Uraemic Syndrome (aHUS) and Membranoproliferative Glomerulonephritis (MPGN).\r\n\r\nThis panel was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS and RMH.\r\n\r\nThe contents of this panel have been compared against the Genomics England PanelApp aHUS and MPGN panels, and discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England. 09/01/2020", "status": "public", "version": "1.0", "version_created": "2026-03-24T16:31:25.995226+11:00", "relevant_disorders": [ "Haemolytic anaemia", "HP:0001878" ], "stats": { "number_of_genes": 16, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TFB2", "TFIIH", "P52" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4658", "gene_name": "general transcription factor IIH subunit 4", "omim_gene": [ "601760" ], "alias_name": null, "gene_symbol": "GTF2H4", "hgnc_symbol": "GTF2H4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:30875961-30881883", "ensembl_id": "ENSG00000213780" } }, "GRch38": { "90": { "location": "6:30908184-30914106", "ensembl_id": "ENSG00000213780" } } }, "hgnc_date_symbol_changed": "1998-08-19" }, "entity_type": "gene", "entity_name": "GTF2H4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40924495", "40924475" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Xeroderma pigmentosum, complementation group J, MIM# 621435" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16782", "gene_name": "tRNA methyltransferase 1 like", "omim_gene": [ "611673" ], "alias_name": [ "TRM1-like" ], "gene_symbol": "TRMT1L", "hgnc_symbol": "TRMT1L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:185087220-185126204", "ensembl_id": "ENSG00000121486" } }, "GRch38": { "90": { "location": "1:185118098-185157072", "ensembl_id": "ENSG00000121486" } } }, "hgnc_date_symbol_changed": "2011-01-24" }, "entity_type": "gene", "entity_name": "TRMT1L", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39786990" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ31300", "HMFN0320" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26444", "gene_name": "urocanate hydratase 1", "omim_gene": [ "613012" ], "alias_name": [ "urocanase 1" ], "gene_symbol": "UROC1", "hgnc_symbol": "UROC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:126200124-126236616", "ensembl_id": "ENSG00000159650" } }, "GRch38": { "90": { "location": "3:126481281-126517773", "ensembl_id": "ENSG00000159650" } } }, "hgnc_date_symbol_changed": "2005-02-07" }, "entity_type": "gene", "entity_name": "UROC1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19304569", "30619714" ], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [ "Urocanase deficiency, MIM#276880" ], "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": [ "FOX-3", "NeuN", "HRNBP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27097", "gene_name": "RNA binding fox-1 homolog 3", "omim_gene": [ "616999" ], "alias_name": [ "neuronal nuclei", "hexaribonucleotide binding protein 3" ], "gene_symbol": "RBFOX3", "hgnc_symbol": "RBFOX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:77085427-77613550", "ensembl_id": "ENSG00000167281" } }, "GRch38": { "90": { "location": "17:79089345-79516148", "ensembl_id": "ENSG00000167281" } } }, "hgnc_date_symbol_changed": "2010-09-10" }, "entity_type": "gene", "entity_name": "RBFOX3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35951651", "36117209", "24039908", "40011789" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "version_created": "2026-04-03T15:53:29.044094+11:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2523, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BPTP3", "SH-PTP2", "SHP-2", "PTP2C", "SHP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9644", "gene_name": "protein tyrosine phosphatase, non-receptor type 11", "omim_gene": [ "176876" ], "alias_name": null, "gene_symbol": "PTPN11", "hgnc_symbol": "PTPN11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:112856155-112947717", "ensembl_id": "ENSG00000179295" } }, "GRch38": { "90": { "location": "12:112418351-112509913", "ensembl_id": "ENSG00000179295" } } }, "hgnc_date_symbol_changed": "1993-03-03" }, "entity_type": "gene", "entity_name": "PTPN11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27193571", "24939587", "29907801" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "LEOPARD syndrome 1 151100", "Noonan syndrome 1 163950", "cystic hygroma" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 300, "hash_id": null, "name": "Vascular Malformations_Germline", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes that cause Mendelian vascular malformation disorders, particularly those presenting with skin lesions. Genes causing sporadic and congenital vascular malformations through somatic activating mutations are rated Red and labelled 'somatic'. This gene panel is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nIf a sample of affected tissue is being tested, please use the Vascular Malformations_Somatic panel.", "status": "public", "version": "1.13", "version_created": "2026-01-24T18:03:26.952041+11:00", "relevant_disorders": [ "Abnormal vascular morphology HP:0025015" ], "stats": { "number_of_genes": 42, "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:3601", "gene_name": "fibulin 2", "omim_gene": [ "135821" ], "alias_name": null, "gene_symbol": "FBLN2", "hgnc_symbol": "FBLN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:13573824-13679922", "ensembl_id": "ENSG00000163520" } }, "GRch38": { "90": { "location": "3:13549131-13638422", "ensembl_id": "ENSG00000163520" } } }, "hgnc_date_symbol_changed": "1994-02-24" }, "entity_type": "gene", "entity_name": "FBLN2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33971972" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Pulmonary arterial hypertension MONDO:0015924, FBLN2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3095, "hash_id": null, "name": "Pulmonary Arterial Hypertension", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.", "status": "public", "version": "1.56", "version_created": "2026-03-28T14:21:49.158422+11:00", "relevant_disorders": [ "Pulmonary arterial hypertension", "HP:0002092" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ20177", "ASM3A", "ASML3a", "yR36GH4.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17389", "gene_name": "sphingomyelin phosphodiesterase acid like 3A", "omim_gene": [ "610728" ], "alias_name": [ "acid sphingomyelinase-like phosphodiesterase 3a" ], "gene_symbol": "SMPDL3A", "hgnc_symbol": "SMPDL3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:123110315-123130865", "ensembl_id": "ENSG00000172594" } }, "GRch38": { "90": { "location": "6:122789049-122809720", "ensembl_id": "ENSG00000172594" } } }, "hgnc_date_symbol_changed": "2003-11-26" }, "entity_type": "gene", "entity_name": "SMPDL3A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33884296" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Sensory Neuropathy MONDO:0002321, SMPDL3A-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3126, "hash_id": null, "name": "Pain syndromes", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Mendelian disorders of pain perception, including insensitivity to pain or increased pain perception, with thanks to Genomics England PanelApp.", "status": "public", "version": "0.38", "version_created": "2026-02-22T15:47:27.675595+11:00", "relevant_disorders": [ "Pain", "HP:0012531" ], "stats": { "number_of_genes": 31, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4398", "gene_name": "G protein subunit beta 2", "omim_gene": [ "139390" ], "alias_name": [ "G protein, beta-2 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2", "signal-transducing guanine nucleotide-binding regulatory protein beta subunit", "transducin beta chain 2" ], "gene_symbol": "GNB2", "hgnc_symbol": "GNB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:100271154-100276797", "ensembl_id": "ENSG00000172354" } }, "GRch38": { "90": { "location": "7:100673531-100679174", "ensembl_id": "ENSG00000172354" } } }, "hgnc_date_symbol_changed": "1988-05-20" }, "entity_type": "gene", "entity_name": "GNB2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "34124757" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Sturge-Weber syndrome, somatic, mosaic" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3181, "hash_id": null, "name": "Vascular Malformations_Somatic", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel contains genes that cause vascular malformations as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nIf a germline disorder is suspected, please use the Vascular Malformations_Germline panel.", "status": "public", "version": "1.16", "version_created": "2025-10-02T12:54:21.549968+10:00", "relevant_disorders": [ "Abnormal vascular morphology HP:0025015" ], "stats": { "number_of_genes": 25, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TF6", "FLJ36137", "SPG57" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11758", "gene_name": "TRK-fused gene", "omim_gene": [ "602498" ], "alias_name": null, "gene_symbol": "TFG", "hgnc_symbol": "TFG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:100428205-100467810", "ensembl_id": "ENSG00000114354" } }, "GRch38": { "90": { "location": "3:100709331-100748966", "ensembl_id": "ENSG00000114354" } } }, "hgnc_date_symbol_changed": "1999-06-14" }, "entity_type": "gene", "entity_name": "TFG", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "NSW Health Pathology" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3437, "hash_id": null, "name": "Incidentalome_PREGEN_DRAFT", "disease_group": "", "disease_sub_group": "", "description": "Imported to facilitate update work. Do not use while labeled as DRAFT", "status": "public", "version": "0.43", "version_created": "2021-01-20T16:42:09.286633+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 173, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4208", "gene_name": "glycine cleavage system protein H", "omim_gene": [ "238330" ], "alias_name": [ "lipoic acid-containing protein" ], "gene_symbol": "GCSH", "hgnc_symbol": "GCSH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:81115566-81130008", "ensembl_id": "ENSG00000140905" } }, "GRch38": { "90": { "location": "16:81081938-81096425", "ensembl_id": "ENSG00000140905" } } }, "hgnc_date_symbol_changed": "1992-04-08" }, "entity_type": "gene", "entity_name": "GCSH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "1671321", "27604308" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Glycine encephalopathy MIM#605899", "Disorders of serine, glycine or glycerate metabolism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3468, "hash_id": null, "name": "Miscellaneous Metabolic Disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.60", "version_created": "2026-01-15T15:39:27.439934+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 149, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HuF2", "ZGRF6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12398", "gene_name": "transcription termination factor 2", "omim_gene": [ "604718" ], "alias_name": [ "zinc finger, GRF-type containing 6", "transcription release factor 2" ], "gene_symbol": "TTF2", "hgnc_symbol": "TTF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:117602925-117650075", "ensembl_id": "ENSG00000116830" } }, "GRch38": { "90": { "location": "1:117060303-117107453", "ensembl_id": "ENSG00000116830" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "TTF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30022773" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "congenital hypothyroidism, thyroid dysgenesis, No OMIM #" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "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": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ALT2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18062", "gene_name": "glutamic--pyruvic transaminase 2", "omim_gene": [ "138210" ], "alias_name": [ "alanine aminotransferase 2" ], "gene_symbol": "GPT2", "hgnc_symbol": "GPT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:46918290-46965209", "ensembl_id": "ENSG00000166123" } }, "GRch38": { "90": { "location": "16:46884378-46931297", "ensembl_id": "ENSG00000166123" } } }, "hgnc_date_symbol_changed": "2002-03-05" }, "entity_type": "gene", "entity_name": "GPT2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25758935", "27601654", "28130718", "29226631", "29882329", "31471722" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly and spastic paraplegia MIM#616281" ], "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": [ "Hup1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8621", "gene_name": "paired box 7", "omim_gene": [ "167410" ], "alias_name": null, "gene_symbol": "PAX7", "hgnc_symbol": "PAX7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:18957500-19075360", "ensembl_id": "ENSG00000009709" } }, "GRch38": { "90": { "location": "1:18631006-18748866", "ensembl_id": "ENSG00000009709" } } }, "hgnc_date_symbol_changed": "1992-11-20" }, "entity_type": "gene", "entity_name": "PAX7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Myopathy, congenital, progressive, with scoliosis, OMIM:618578", "Myopathy, congenital, progressive, with scoliosis, MONDO:0032821" ], "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": [ "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": [ "22305527" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Congenital disorder of glycosylation, type Ir, MIM# 614507" ], "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": [ "QP-C", "QCR8", "UQCR7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29594", "gene_name": "ubiquinol-cytochrome c reductase complex III subunit VII", "omim_gene": [ "612080" ], "alias_name": [ "ubiquinol-cytochrome c reductase, complex III subunit VII", "complex III subunit 8" ], "gene_symbol": "UQCRQ", "hgnc_symbol": "UQCRQ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:132202252-132203723", "ensembl_id": "ENSG00000164405" } }, "GRch38": { "90": { "location": "5:132866560-132868031", "ensembl_id": "ENSG00000164405" } } }, "hgnc_date_symbol_changed": "2005-12-01" }, "entity_type": "gene", "entity_name": "UQCRQ", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18439546" ], "evidence": [ "Expert Review Red", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD42a", "GPIX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4444", "gene_name": "glycoprotein IX platelet", "omim_gene": [ "173515" ], "alias_name": [ "platelet glycoprotein IX" ], "gene_symbol": "GP9", "hgnc_symbol": "GP9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:128779610-128781249", "ensembl_id": "ENSG00000169704" } }, "GRch38": { "90": { "location": "3:129060767-129062406", "ensembl_id": "ENSG00000169704" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "GP9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8049428", "33553065", "32030720", "31484196" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Bernard-Soulier syndrome, type C\t(MIM#231200)" ], "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:3748", "gene_name": "filaggrin", "omim_gene": [ "135940" ], "alias_name": null, "gene_symbol": "FLG", "hgnc_symbol": "FLG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:152274651-152297679", "ensembl_id": "ENSG00000143631" } }, "GRch38": { "90": { "location": "1:152302175-152325203", "ensembl_id": "ENSG00000143631" } } }, "hgnc_date_symbol_changed": "1989-10-18" }, "entity_type": "gene", "entity_name": "FLG", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Ichthyosis vulgaris" ], "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": [ "FXI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3529", "gene_name": "coagulation factor XI", "omim_gene": [ "264900" ], "alias_name": [ "plasma thromboplastin antecedent" ], "gene_symbol": "F11", "hgnc_symbol": "F11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:187187099-187210835", "ensembl_id": "ENSG00000088926" } }, "GRch38": { "90": { "location": "4:186265945-186288806", "ensembl_id": "ENSG00000088926" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "F11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Factor XI deficiency, autosomal dominant 612416", "Factor XI deficiency, autosomal recessive, MIM#612416" ], "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": [ "KIAA0609" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6511", "gene_name": "LARGE xylosyl- and glucuronyltransferase 1", "omim_gene": [ "603590" ], "alias_name": [ "like-acetylglucosaminyltransferase" ], "gene_symbol": "LARGE1", "hgnc_symbol": "LARGE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:33558212-34318829", "ensembl_id": "ENSG00000133424" } }, "GRch38": { "90": { "location": "22:33162226-33922841", "ensembl_id": "ENSG00000133424" } } }, "hgnc_date_symbol_changed": "2016-05-31" }, "entity_type": "gene", "entity_name": "LARGE1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154", "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840" ], "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": [ "GP130", "LRP130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15714", "gene_name": "leucine rich pentatricopeptide repeat containing", "omim_gene": [ "607544" ], "alias_name": null, "gene_symbol": "LRPPRC", "hgnc_symbol": "LRPPRC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:44113647-44223144", "ensembl_id": "ENSG00000138095" } }, "GRch38": { "90": { "location": "2:43886508-43996005", "ensembl_id": "ENSG00000138095" } } }, "hgnc_date_symbol_changed": "2001-06-04" }, "entity_type": "gene", "entity_name": "LRPPRC", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111" ], "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": [ "NPH3", "KIAA2000", "FLJ30691", "FLJ36696", "MKS7", "SLSN3", "CFAP31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7907", "gene_name": "nephrocystin 3", "omim_gene": [ "608002" ], "alias_name": [ "Meckel syndrome, type 7", "cilia and flagella associated protein 31" ], "gene_symbol": "NPHP3", "hgnc_symbol": "NPHP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:132276986-132441303", "ensembl_id": "ENSG00000113971" } }, "GRch38": { "90": { "location": "3:132680609-132722442", "ensembl_id": "ENSG00000113971" } } }, "hgnc_date_symbol_changed": "2000-01-20" }, "entity_type": "gene", "entity_name": "NPHP3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Renal-hepatic-pancreatic dysplasia 1, MIM# 208540" ], "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": [ "TRK", "TRKA", "MTC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8031", "gene_name": "neurotrophic receptor tyrosine kinase 1", "omim_gene": [ "191315" ], "alias_name": [ "high affinity nerve growth factor receptor" ], "gene_symbol": "NTRK1", "hgnc_symbol": "NTRK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156785432-156851642", "ensembl_id": "ENSG00000198400" } }, "GRch38": { "90": { "location": "1:156815640-156881850", "ensembl_id": "ENSG00000198400" } } }, "hgnc_date_symbol_changed": "1991-07-18" }, "entity_type": "gene", "entity_name": "NTRK1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category C gene", "BabySeq Category A gene" ], "phenotypes": [ "Congenital insensitivity to pain with anhidrosis MIM#256800" ], "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": [ "HSORC1", "PARC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8487", "gene_name": "origin recognition complex subunit 1", "omim_gene": [ "601902" ], "alias_name": [ "origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1" ], "gene_symbol": "ORC1", "hgnc_symbol": "ORC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:52838501-52870131", "ensembl_id": "ENSG00000085840" } }, "GRch38": { "90": { "location": "1:52372829-52404459", "ensembl_id": "ENSG00000085840" } } }, "hgnc_date_symbol_changed": "2010-10-12" }, "entity_type": "gene", "entity_name": "ORC1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Meier-Gorlin syndrome 1, MIM# 224690" ], "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": [ "DKFZP434A139", "SMS", "KIAA1820", "MGC12824" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9834", "gene_name": "retinoic acid induced 1", "omim_gene": [ "607642" ], "alias_name": null, "gene_symbol": "RAI1", "hgnc_symbol": "RAI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:17584787-17714767", "ensembl_id": "ENSG00000108557" } }, "GRch38": { "90": { "location": "17:17681473-17811453", "ensembl_id": "ENSG00000108557" } } }, "hgnc_date_symbol_changed": "1999-04-16" }, "entity_type": "gene", "entity_name": "RAI1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Smith-Magenis syndrome (MIM#182290)" ], "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": [ "RecQ4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9949", "gene_name": "RecQ like helicase 4", "omim_gene": [ "603780" ], "alias_name": null, "gene_symbol": "RECQL4", "hgnc_symbol": "RECQL4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145736667-145743229", "ensembl_id": "ENSG00000160957" } }, "GRch38": { "90": { "location": "8:144511288-144517845", "ensembl_id": "ENSG00000160957" } } }, "hgnc_date_symbol_changed": "2014-03-07" }, "entity_type": "gene", "entity_name": "RECQL4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Rothmund-Thomson syndrome, type 2, MIM# 268400" ], "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": [ "FLJ10520", "RNF201", "FANCW" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25539", "gene_name": "ring finger and WD repeat domain 3", "omim_gene": [ "614151" ], "alias_name": null, "gene_symbol": "RFWD3", "hgnc_symbol": "RFWD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:74655292-74700779", "ensembl_id": "ENSG00000168411" } }, "GRch38": { "90": { "location": "16:74621394-74666881", "ensembl_id": "ENSG00000168411" } } }, "hgnc_date_symbol_changed": "2005-01-13" }, "entity_type": "gene", "entity_name": "RFWD3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BeginNGS" ], "phenotypes": [ "Fanconi anaemia, complementation group W, MIM# \t617784" ], "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": [ "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": "", "publications": [], "evidence": [ "Expert Review Red", "BeginNGS" ], "phenotypes": [ "Diamond-Blackfan anaemia 19 , MIM#\t618312" ], "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": [ "dJ412I7.1", "FLJ37974", "RSPH6B", "CILD11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21558", "gene_name": "radial spoke head 4 homolog A", "omim_gene": [ "612647" ], "alias_name": null, "gene_symbol": "RSPH4A", "hgnc_symbol": "RSPH4A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:116937642-116954148", "ensembl_id": "ENSG00000111834" } }, "GRch38": { "90": { "location": "6:116616479-116632985", "ensembl_id": "ENSG00000111834" } } }, "hgnc_date_symbol_changed": "2009-02-17" }, "entity_type": "gene", "entity_name": "RSPH4A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Ciliary dyskinesia, primary, 11 (MIM#612649)" ], "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": [ "Hsal1", "ZNF794" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10524", "gene_name": "spalt like transcription factor 1", "omim_gene": [ "602218" ], "alias_name": null, "gene_symbol": "SALL1", "hgnc_symbol": "SALL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:51169886-51185278", "ensembl_id": "ENSG00000103449" } }, "GRch38": { "90": { "location": "16:51135975-51151367", "ensembl_id": "ENSG00000103449" } } }, "hgnc_date_symbol_changed": "1996-10-11" }, "entity_type": "gene", "entity_name": "SALL1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Townes-Brocks syndrome 1, MIM#107480" ], "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": [ "cybS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10683", "gene_name": "succinate dehydrogenase complex subunit D", "omim_gene": [ "602690" ], "alias_name": [ "small subunit of cytochrome b" ], "gene_symbol": "SDHD", "hgnc_symbol": "SDHD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:111957497-111990353", "ensembl_id": "ENSG00000204370" } }, "GRch38": { "90": { "location": "11:112086773-112120013", "ensembl_id": "ENSG00000204370" } } }, "hgnc_date_symbol_changed": "1997-10-21" }, "entity_type": "gene", "entity_name": "SDHD", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167", "Paragangliomas 1, with or without deafness, MIM# 168000" ], "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": [ "FATP4", "ACSVL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10998", "gene_name": "solute carrier family 27 member 4", "omim_gene": [ "604194" ], "alias_name": null, "gene_symbol": "SLC27A4", "hgnc_symbol": "SLC27A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131102925-131123749", "ensembl_id": "ENSG00000167114" } }, "GRch38": { "90": { "location": "9:128340646-128361470", "ensembl_id": "ENSG00000167114" } } }, "hgnc_date_symbol_changed": "1999-08-20" }, "entity_type": "gene", "entity_name": "SLC27A4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301593" ], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Ichthyosis prematurity syndrome, MIM#608649" ], "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": [ "KIAA1270", "bA444E17.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21022", "gene_name": "alanyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "612035" ], "alias_name": [ "alanine tRNA ligase 2, mitochondrial" ], "gene_symbol": "AARS2", "hgnc_symbol": "AARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:44267391-44281063", "ensembl_id": "ENSG00000124608" } }, "GRch38": { "90": { "location": "6:44299654-44313326", "ensembl_id": "ENSG00000124608" } } }, "hgnc_date_symbol_changed": "2007-02-23" }, "entity_type": "gene", "entity_name": "AARS2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Leukoencephalopathy, and ovarian failure in females" ], "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": [ "NEM3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:129", "gene_name": "actin, alpha 1, skeletal muscle", "omim_gene": [ "102610" ], "alias_name": [ "nemaline myopathy type 3" ], "gene_symbol": "ACTA1", "hgnc_symbol": "ACTA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:229566992-229569845", "ensembl_id": "ENSG00000143632" } }, "GRch38": { "90": { "location": "1:229431245-229434098", "ensembl_id": "ENSG00000143632" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ACTA1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "BabySeq Category A gene", "Expert Review Red" ], "phenotypes": [ "Nemaline myopathy", "Congenital myopathy with fiber type disproportion" ], "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": [ "DKFZp761H079", "JBTS8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25419", "gene_name": "ADP ribosylation factor like GTPase 13B", "omim_gene": [ "608922" ], "alias_name": null, "gene_symbol": "ARL13B", "hgnc_symbol": "ARL13B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:93698983-93774512", "ensembl_id": "ENSG00000169379" } }, "GRch38": { "90": { "location": "3:93980139-94055668", "ensembl_id": "ENSG00000169379" } } }, "hgnc_date_symbol_changed": "2005-11-18" }, "entity_type": "gene", "entity_name": "ARL13B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Joubert syndrome" ], "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": [ "BLOS3", "HPS8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20914", "gene_name": "biogenesis of lysosomal organelles complex 1 subunit 3", "omim_gene": [ "609762" ], "alias_name": [ "BLOC-1 subunit 3", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 3", "Hermansky-Pudlak syndrome 8" ], "gene_symbol": "BLOC1S3", "hgnc_symbol": "BLOC1S3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:45682003-45685059", "ensembl_id": "ENSG00000189114" } }, "GRch38": { "90": { "location": "19:45178745-45181801", "ensembl_id": "ENSG00000189114" } } }, "hgnc_date_symbol_changed": "2004-05-24" }, "entity_type": "gene", "entity_name": "BLOC1S3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Hermansky-Pudlak syndrome 8" ], "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": [ "Ymer" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18111", "gene_name": "coiled-coil domain containing 50", "omim_gene": [ "611051" ], "alias_name": null, "gene_symbol": "CCDC50", "hgnc_symbol": "CCDC50", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:191046866-191116459", "ensembl_id": "ENSG00000152492" } }, "GRch38": { "90": { "location": "3:191329077-191398670", "ensembl_id": "ENSG00000152492" } } }, "hgnc_date_symbol_changed": "2005-12-23" }, "entity_type": "gene", "entity_name": "CCDC50", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27911912", "24875298", "17503326" ], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Deafness, autosomal dominant 44 , MIM# 607453" ], "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": [ "DKFZp762H1311", "FLJ22445", "JBTS15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12370", "gene_name": "centrosomal protein 41", "omim_gene": [ "610523" ], "alias_name": null, "gene_symbol": "CEP41", "hgnc_symbol": "CEP41", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:130033612-130082274", "ensembl_id": "ENSG00000106477" } }, "GRch38": { "90": { "location": "7:130393771-130442433", "ensembl_id": "ENSG00000106477" } } }, "hgnc_date_symbol_changed": "2011-10-04" }, "entity_type": "gene", "entity_name": "CEP41", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Joubert syndrome" ], "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": [ "FHR5", "FHR-5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24668", "gene_name": "complement factor H related 5", "omim_gene": [ "608593" ], "alias_name": [ "factor H related protein 5" ], "gene_symbol": "CFHR5", "hgnc_symbol": "CFHR5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:196946667-196978804", "ensembl_id": "ENSG00000134389" } }, "GRch38": { "90": { "location": "1:196977556-197009674", "ensembl_id": "ENSG00000134389" } } }, "hgnc_date_symbol_changed": "2006-02-28" }, "entity_type": "gene", "entity_name": "CFHR5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Haemolytic uraemic syndrome" ], "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": [ "Miner1", "ERIS", "NAF-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24212", "gene_name": "CDGSH iron sulfur domain 2", "omim_gene": [ "611507" ], "alias_name": [ "mitoNEET related 1", "endoplasmic reticulum intermembrane small protein", "nutrient-deprivation autophagy factor-1" ], "gene_symbol": "CISD2", "hgnc_symbol": "CISD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:103790135-103810399", "ensembl_id": "ENSG00000145354" } }, "GRch38": { "90": { "location": "4:102868978-102889242", "ensembl_id": "ENSG00000145354" } } }, "hgnc_date_symbol_changed": "2007-08-10" }, "entity_type": "gene", "entity_name": "CISD2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Wolfram syndrome" ], "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": [ "MRG1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1987", "gene_name": "Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2", "omim_gene": [ "602937" ], "alias_name": null, "gene_symbol": "CITED2", "hgnc_symbol": "CITED2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:139693393-139695757", "ensembl_id": "ENSG00000164442" } }, "GRch38": { "90": { "location": "6:139371807-139374620", "ensembl_id": "ENSG00000164442" } } }, "hgnc_date_symbol_changed": "1999-06-11" }, "entity_type": "gene", "entity_name": "CITED2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Congenital heart defects" ], "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:14630", "gene_name": "cysteine rich with EGF like domains 1", "omim_gene": [ "607170" ], "alias_name": null, "gene_symbol": "CRELD1", "hgnc_symbol": "CRELD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:9975506-9987097", "ensembl_id": "ENSG00000163703" } }, "GRch38": { "90": { "location": "3:9933822-9945413", "ensembl_id": "ENSG00000163703" } } }, "hgnc_date_symbol_changed": "2001-02-16" }, "entity_type": "gene", "entity_name": "CRELD1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Cardiac atrioventricular septal defect" ], "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:2651", "gene_name": "cytochrome P450 family 7 subfamily A member 1", "omim_gene": [ "118455" ], "alias_name": [ "cholesterol 7 alpha-monooxygenase" ], "gene_symbol": "CYP7A1", "hgnc_symbol": "CYP7A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:59402737-59412795", "ensembl_id": "ENSG00000167910" } }, "GRch38": { "90": { "location": "8:58490178-58500236", "ensembl_id": "ENSG00000167910" } } }, "hgnc_date_symbol_changed": "1992-04-16" }, "entity_type": "gene", "entity_name": "CYP7A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency" ], "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": [ "FLJ00118", "FLJ13070", "DNAJC5A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16235", "gene_name": "DnaJ heat shock protein family (Hsp40) member C5", "omim_gene": [ "611203" ], "alias_name": null, "gene_symbol": "DNAJC5", "hgnc_symbol": "DNAJC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:62526518-62567384", "ensembl_id": "ENSG00000101152" } }, "GRch38": { "90": { "location": "20:63895182-63936031", "ensembl_id": "ENSG00000101152" } } }, "hgnc_date_symbol_changed": "2001-07-17" }, "entity_type": "gene", "entity_name": "DNAJC5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Neuronal ceroid lipofuscinosis, adult-onset" ], "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": [ "D18S892E", "DTN", "DTN-1", "DTN-2", "DTN-3", "DRP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3057", "gene_name": "dystrobrevin alpha", "omim_gene": [ "601239" ], "alias_name": [ "dystrophin-related protein 3" ], "gene_symbol": "DTNA", "hgnc_symbol": "DTNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:32073254-32471808", "ensembl_id": "ENSG00000134769" } }, "GRch38": { "90": { "location": "18:34493290-34891844", "ensembl_id": "ENSG00000134769" } } }, "hgnc_date_symbol_changed": "1998-02-11" }, "entity_type": "gene", "entity_name": "DTNA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Left ventricular noncompaction 1" ], "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": [ "EJM5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4075", "gene_name": "gamma-aminobutyric acid type A receptor alpha1 subunit", "omim_gene": [ "137160" ], "alias_name": [ "GABA(A) receptor, alpha 1" ], "gene_symbol": "GABRA1", "hgnc_symbol": "GABRA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:161274197-161326975", "ensembl_id": "ENSG00000022355" } }, "GRch38": { "90": { "location": "5:161847063-161899981", "ensembl_id": "ENSG00000022355" } } }, "hgnc_date_symbol_changed": "1989-06-02" }, "entity_type": "gene", "entity_name": "GABRA1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Epilepsy, idiopathic generalised" ], "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": [ "HSS", "ERV1", "ALR", "HERV1", "HPO1", "HPO2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4236", "gene_name": "growth factor, augmenter of liver regeneration", "omim_gene": [ "600924" ], "alias_name": [ "ERV1 homolog (S. cerevisiae)", "FAD-linked sulfhydryl oxidase ALR" ], "gene_symbol": "GFER", "hgnc_symbol": "GFER", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:2034208-2037750", "ensembl_id": "ENSG00000127554" } }, "GRch38": { "90": { "location": "16:1984207-1987749", "ensembl_id": "ENSG00000127554" } } }, "hgnc_date_symbol_changed": "1997-03-19" }, "entity_type": "gene", "entity_name": "GFER", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" ], "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:22923", "gene_name": "GDP-mannose pyrophosphorylase A", "omim_gene": [ "615495" ], "alias_name": null, "gene_symbol": "GMPPA", "hgnc_symbol": "GMPPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:220363589-220371710", "ensembl_id": "ENSG00000144591" } }, "GRch38": { "90": { "location": "2:219498867-219506989", "ensembl_id": "ENSG00000144591" } } }, "hgnc_date_symbol_changed": "2005-01-10" }, "entity_type": "gene", "entity_name": "GMPPA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Congenital disorder of glycosylation" ], "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": [ "DKFZP586B0923", "TTC20", "KBP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23419", "gene_name": "KIF1 binding protein", "omim_gene": [ "609367" ], "alias_name": [ "kinesin binding protein" ], "gene_symbol": "KIF1BP", "hgnc_symbol": "KIF1BP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:70748487-70776738", "ensembl_id": "ENSG00000198954" } }, "GRch38": { "90": { "location": "10:68988721-69043544", "ensembl_id": "ENSG00000198954" } } }, "hgnc_date_symbol_changed": "2015-03-27" }, "entity_type": "gene", "entity_name": "KIF1BP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Goldberg-Shprintzen megacolon syndrome" ], "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": [ "LSH-B", "CGB4", "hLHB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6584", "gene_name": "luteinizing hormone beta polypeptide", "omim_gene": [ "152780" ], "alias_name": [ "lutropin, beta chain", "interstitial cell stimulating hormone, beta chain", "luteinizing hormone beta subunit" ], "gene_symbol": "LHB", "hgnc_symbol": "LHB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:49519237-49520338", "ensembl_id": "ENSG00000104826" } }, "GRch38": { "90": { "location": "19:49015980-49017081", "ensembl_id": "ENSG00000104826" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "LHB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Hypogonadism" ], "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": [ "PBP", "Pc-1", "TRPP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9008", "gene_name": "polycystin 1, transient receptor potential channel interacting", "omim_gene": [ "601313" ], "alias_name": [ "polycystin 1", "transient receptor potential cation channel, subfamily P, member 1" ], "gene_symbol": "PKD1", "hgnc_symbol": "PKD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:2138711-2185899", "ensembl_id": "ENSG00000008710" } }, "GRch38": { "90": { "location": "16:2088710-2135898", "ensembl_id": "ENSG00000008710" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PKD1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35630097", "26798684", "26971055", "29650765" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Polycystic kidney disease 1\tMIM#173900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4323, "hash_id": null, "name": "Spontaneous coronary artery dissection", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "Spontaneous coronary artery (SCA) dissection is a rare cause of myocardial infarction, particularly in younger individuals. While the aetiology is likely to be polygenic in the majority of individuals, SCA dissection may also be indicative of an underlying systemic arteriopathy. This panel contains genes that have been reported in association with this clinical presentation.\r\n\r\nConsider also using the Aortopathy_Connective Tissue Disorders panel in conjunction.\r\n\r\nThis panel was developed in collaboration with Cardiovascular Genomics at the Victorian Heart Hospital and the Clinical Genetics & Genomics Service at Alfred Health.", "status": "public", "version": "0.56", "version_created": "2024-12-09T13:28:09.179277+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 19, "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": [ "MOP2", "PASD2", "HIF2A", "HLF", "bHLHe73" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3374", "gene_name": "endothelial PAS domain protein 1", "omim_gene": [ "603349" ], "alias_name": [ "HIF-1 alpha-like factor" ], "gene_symbol": "EPAS1", "hgnc_symbol": "EPAS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:46520806-46613836", "ensembl_id": "ENSG00000116016" } }, "GRch38": { "90": { "location": "2:46293667-46386703", "ensembl_id": "ENSG00000116016" } } }, "hgnc_date_symbol_changed": "1998-05-29" }, "entity_type": "gene", "entity_name": "EPAS1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 22931260", "23418310", "33300499" ], "evidence": [ "Expert Review Red", "Literature", "Expert Review", "Expert list" ], "phenotypes": [ "Paraganglioma, MONDO:0000448", "Pheochromocytoma, MONDO:0008233", "Pheochromocytoma/paraganglioma, susceptibility to, no MIM#", "Erythrocytosis, familial, 4, MIM#611783" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4365, "hash_id": null, "name": "Paraganglioma_phaeochromocytoma", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with paraganglioma and phaeochromocytoma. \r\n\r\nFurther information on the testing criteria for paraganglioma and phaeochromocytoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3601-paraganglioma-phaeochromocytoma-panel-testi\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with paraganglioma and phaeochromocytoma and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.2", "version_created": "2026-01-12T09:39:17.151164+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 18, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Adult Genetics Unit, Royal Adelaide Hospital", "slug": "adult-genetics-unit-royal-adelaide-hospital", "description": "Adult Genetics Unit, Royal Adelaide Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p53", "LFS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11998", "gene_name": "tumor protein p53", "omim_gene": [ "191170" ], "alias_name": [ "Li-Fraumeni syndrome" ], "gene_symbol": "TP53", "hgnc_symbol": "TP53", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7565097-7590856", "ensembl_id": "ENSG00000141510" } }, "GRch38": { "90": { "location": "17:7661779-7687550", "ensembl_id": "ENSG00000141510" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TP53", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Expert Review", "Expert list" ], "phenotypes": [ "Wilms tumor, MONDO:0006058", "Li-Fraumeni syndrome, MONDO:0018875", "Li-Fraumeni syndrome, MIM#151623" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4366, "hash_id": null, "name": "Wilms Tumour", "disease_group": "Cancer Predisposition", "disease_sub_group": "", "description": "This panel contains genes associated with Wilms tumour. \r\n\r\nFurther information on the testing criteria for Wilms tumour can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3703-wilms-tumour-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with Wilms tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nWhere Beckwith-Wiedemann Syndrome (BWS) is suspected it is more appropriate to start with methylation studies of 11p15 BWS region in blood and tissue.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).", "status": "public", "version": "1.1", "version_created": "2025-09-05T08:17:06.102713+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 22, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline", "slug": "cancer-germline", "description": "Germline cancer panel" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RE2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23694", "gene_name": "G protein-coupled receptor 161", "omim_gene": [ "612250" ], "alias_name": null, "gene_symbol": "GPR161", "hgnc_symbol": "GPR161", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:168053997-168106821", "ensembl_id": "ENSG00000143147" } }, "GRch38": { "90": { "location": "1:168079543-168137667", "ensembl_id": "ENSG00000143147" } } }, "hgnc_date_symbol_changed": "2003-12-01" }, "entity_type": "gene", "entity_name": "GPR161", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25322266" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "Genomics England PanelApp", "Genomics England PanelApp" ], "phenotypes": [ "Pituitary stalk interruption syndrome MONDO:0019828, GPR161-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4523, "hash_id": null, "name": "Adrenal insufficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.", "status": "public", "version": "0.76", "version_created": "2026-03-19T16:21:18.336273+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": 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": 76, "hash_id": null, "name": "Congenital Heart Defect", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.", "status": "public", "version": "0.534", "version_created": "2026-03-30T13:14:35.719896+11:00", "relevant_disorders": [ "Abnormal heart morphology HP:0001627" ], "stats": { "number_of_genes": 253, "number_of_strs": 1, "number_of_regions": 10 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "POU3F4 upstream regulatory region", "verbose_name": "POU3F4 upstream regulatory region", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": null, "triplosensitivity_score": null, "required_overlap_percentage": 70, "type_of_variants": "cnv_loss", "publications": [ "PMID: 41170199, 35189936, 33860785" ], "evidence": [ "Literature" ], "phenotypes": [ "Deafness, X-linked 2 MIM#304400" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "chromosome": "X", "grch37_coordinates": null, "grch38_coordinates": [ 81596036, 83342824 ], "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": [] } }, { "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": 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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37434-Loss", "verbose_name": "Chromosome 1p36 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": [ "PMID: 12974736", "18245432" ], "evidence": [ "Expert list", "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 1p36 deletion syndrome MIM#607872", "intellectual disability", "hypotonia", "congenital anomalies" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "1", "grch37_coordinates": null, "grch38_coordinates": [ 898703, 6229913 ], "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": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37418-Gain", "verbose_name": "Potocki-Lupski 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": [], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Potocki-Lupski syndrome, MIM#\t610883" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 16853797, 20316338 ], "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-37411-Loss", "verbose_name": "Chromosome 15q13.3 microdeletion 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": [ "19372089", "20979196" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Chromosome 15q13.3 microdeletion syndrome, MIM#\t612001", "intellectual disability", "epilepsy" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 30844901, 32153207 ], "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-46299-Gain", "verbose_name": "Xp11.22 microduplication 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: 22840365" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Xp11.22 microduplication syndrome MIM#300705" ], "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": [ 53334251, 53766556 ], "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-37434-Loss", "verbose_name": "1p36 terminal region (includes GABRD) 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": [ "18245432", "17918734", "22766398" ], "evidence": [ "Expert Review Green", "ClinGen", "NHS GMS" ], "phenotypes": [ "microcephaly", "1p36 deletion syndrome", "large anterior fontanels", "large, late-closing anterior fontanel", "deep-set eyes", "central nervous system anomalies", "pointed chin", "heart defects", "poor/absent speech", "hypotonia", "brachycephaly", "hearing impairment", "607872", "growth impairment", "flat nose", "nasal bridge", "mental retardation", "seizures", "epicanthus", "microbrachycephaly", "posteriorly rotated, low-set, abnormal ears", "developmental delay", "distinct dysmorphic features" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "1", "grch37_coordinates": null, "grch38_coordinates": [ 898703, 6229913 ], "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": { "alias": [ "JBTS4", "SLSN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7905", "gene_name": "nephrocystin 1", "omim_gene": [ "607100" ], "alias_name": null, "gene_symbol": "NPHP1", "hgnc_symbol": "NPHP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:110879888-110962643", "ensembl_id": "ENSG00000144061" } }, "GRch38": { "90": { "location": "2:110122311-110205066", "ensembl_id": "ENSG00000144061" } } }, "hgnc_date_symbol_changed": "1991-08-08" }, "entity_type": "region", "entity_name": "ISCA-37405-Loss", "verbose_name": "NPHP1 deletion", "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": [ "29146700" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Nephronophthisis 1, juvenile, MIM#\t256100", "Joubert syndrome 4, MIM#\t609583", "Senior-Loken syndrome 1, MIM#\t266900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "chromosome": "2", "grch37_coordinates": null, "grch38_coordinates": [ 110122329, 110205017 ], "tags": [ "SV/CNV" ], "panel": { "id": 3099, "hash_id": null, "name": "Syndromic Retinopathy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.", "status": "public", "version": "0.256", "version_created": "2026-03-31T19:05:29.271183+11:00", "relevant_disorders": [ "Retinopathy", "HP:0000488" ], "stats": { "number_of_genes": 138, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37501-Loss", "verbose_name": "Chromosome 17q23.1-q23.2 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": [ "20206336", "31151956", "30639323" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355", "intellectual disability", "microcephaly", "congenital anomalies", "pulmonary hypertension" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 60035641, 62198448 ], "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": [] } } ] }