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GET /api/v1/entities/?format=api&page=26
{ "count": 36033, "next": "https://panelapp-aus.org/api/v1/entities/?format=api&page=27", "previous": "https://panelapp-aus.org/api/v1/entities/?format=api&page=25", "results": [ { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:21645", "gene_name": "coiled-coil-helix-coiled-coil-helix domain containing 2", "omim_gene": [ "616244" ], "alias_name": null, "gene_symbol": "CHCHD2", "hgnc_symbol": "CHCHD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:56169262-56174269", "ensembl_id": "ENSG00000106153" } }, "GRch38": { "90": { "location": "7:56101569-56106576", "ensembl_id": "ENSG00000106153" } } }, "hgnc_date_symbol_changed": "2004-01-21" }, "entity_type": "gene", "entity_name": "CHCHD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32068847", "25662902", "31600778", "26705026" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Parkinson disease 22, autosomal dominant MIM#616710" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.51", "version_created": "2026-03-30T11:47:22.375379+11:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "iGNT", "iGAT", "iGnT", "BETA3GNTI", "B3GN-T1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15685", "gene_name": "beta-1,4-glucuronyltransferase 1", "omim_gene": [ "605517" ], "alias_name": [ "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase" ], "gene_symbol": "B4GAT1", "hgnc_symbol": "B4GAT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:66112843-66115163", "ensembl_id": "ENSG00000174684" } }, "GRch38": { "90": { "location": "11:66345372-66347692", "ensembl_id": "ENSG00000174684" } } }, "hgnc_date_symbol_changed": "2014-12-17" }, "entity_type": "gene", "entity_name": "B4GAT1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23359570", "23877401", "23359570", "23217742" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22315", "DOR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18623", "gene_name": "component of oligomeric golgi complex 8", "omim_gene": [ "606979" ], "alias_name": null, "gene_symbol": "COG8", "hgnc_symbol": "COG8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:69354043-69373570", "ensembl_id": "ENSG00000213380" } }, "GRch38": { "90": { "location": "16:69320140-69339583", "ensembl_id": "ENSG00000213380" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "COG8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30690882" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIh\t611182" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 47, "hash_id": null, "name": "Arthrogryposis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.", "status": "public", "version": "1.19", "version_created": "2026-04-02T19:32:17.814766+11:00", "relevant_disorders": [ "Flexion contracture", "HP:0001371" ], "stats": { "number_of_genes": 241, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DHSR", "SDR35C1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4021", "gene_name": "3-ketodihydrosphingosine reductase", "omim_gene": [ "136440" ], "alias_name": [ "3-dehydrosphinganine reductase", "short chain dehydrogenase/reductase family 35C, member 1" ], "gene_symbol": "KDSR", "hgnc_symbol": "KDSR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:60994959-61034743", "ensembl_id": "ENSG00000119537" } }, "GRch38": { "90": { "location": "18:63327726-63367510", "ensembl_id": "ENSG00000119537" } } }, "hgnc_date_symbol_changed": "2008-02-20" }, "entity_type": "gene", "entity_name": "KDSR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28774589", "30467204" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Erythrokeratodermia variabilis et progressiva 4, MIM#\t617526", "severe thrombocytopaenia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": "1.77", "version_created": "2026-04-08T12:32:35.286494+10:00", "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": [] }, { "gene_data": { "alias": [ "KIAA1395", "ZIR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19189", "gene_name": "dedicator of cytokinesis 6", "omim_gene": [ "614194" ], "alias_name": null, "gene_symbol": "DOCK6", "hgnc_symbol": "DOCK6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:11309971-11373157", "ensembl_id": "ENSG00000130158" } }, "GRch38": { "90": { "location": "19:11199295-11262481", "ensembl_id": "ENSG00000130158" } } }, "hgnc_date_symbol_changed": "2003-11-19" }, "entity_type": "gene", "entity_name": "DOCK6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28884918", "40481473", "30111349" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Adams-Oliver syndrome 2 MIM#614219" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 58, "hash_id": null, "name": "Brain Calcification", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.", "status": "public", "version": "2.6", "version_created": "2026-01-08T18:01:53.861975+11:00", "relevant_disorders": [ "Cerebral calcification", "HP:0002514" ], "stats": { "number_of_genes": 96, "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": [ "LGMD2N" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19743", "gene_name": "protein O-mannosyltransferase 2", "omim_gene": [ "607439" ], "alias_name": [ "Dolichyl-phosphate-mannose--protein mannosyltransferase" ], "gene_symbol": "POMT2", "hgnc_symbol": "POMT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:77741299-77787227", "ensembl_id": "ENSG00000009830" } }, "GRch38": { "90": { "location": "14:77274956-77320884", "ensembl_id": "ENSG00000009830" } } }, "hgnc_date_symbol_changed": "2003-01-17" }, "entity_type": "gene", "entity_name": "POMT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 66, "hash_id": null, "name": "Cataract", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.", "status": "public", "version": "1.3", "version_created": "2026-03-31T18:43:23.306556+11:00", "relevant_disorders": [ "Cataract", "HP:0000518" ], "stats": { "number_of_genes": 258, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC8685", "DKFZp566F223", "bA506K6.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30829", "gene_name": "tubulin beta 2B class IIb", "omim_gene": [ "612850" ], "alias_name": [ "class IIb beta-tubulin" ], "gene_symbol": "TUBB2B", "hgnc_symbol": "TUBB2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:3224495-3231964", "ensembl_id": "ENSG00000137285" } }, "GRch38": { "90": { "location": "6:3224261-3231730", "ensembl_id": "ENSG00000137285" } } }, "hgnc_date_symbol_changed": "2005-11-03" }, "entity_type": "gene", "entity_name": "TUBB2B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19465910" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 72, "hash_id": null, "name": "Cerebellar and Pontocerebellar Hypoplasia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.", "status": "public", "version": "1.100", "version_created": "2026-04-02T11:42:58.167964+11:00", "relevant_disorders": [ "Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879" ], "stats": { "number_of_genes": 122, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11276", "gene_name": "spectrin beta, non-erythrocytic 2", "omim_gene": [ "604985" ], "alias_name": null, "gene_symbol": "SPTBN2", "hgnc_symbol": "SPTBN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:66452719-66496697", "ensembl_id": "ENSG00000173898" } }, "GRch38": { "90": { "location": "11:66685248-66729226", "ensembl_id": "ENSG00000173898" } } }, "hgnc_date_symbol_changed": "1997-10-16" }, "entity_type": "gene", "entity_name": "SPTBN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31066025", "25981959", "31721007", "38693247" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spinocerebellar ataxia 5 MIM#600224", "Spinocerebellar ataxia, autosomal recessive 14 MIM#615386" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC12435", "1700010H15RiK", "CILD16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23247", "gene_name": "dynein axonemal light chain 1", "omim_gene": [ "610062" ], "alias_name": null, "gene_symbol": "DNAL1", "hgnc_symbol": "DNAL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:74111578-74170435", "ensembl_id": "ENSG00000119661" } }, "GRch38": { "90": { "location": "14:73644875-73703732", "ensembl_id": "ENSG00000119661" } } }, "hgnc_date_symbol_changed": "2006-09-04" }, "entity_type": "gene", "entity_name": "DNAL1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21496787" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 16, MIM# 614017" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ31514", "FLJ44112" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26456", "gene_name": "cilia and flagella associated protein 54", "omim_gene": null, "alias_name": null, "gene_symbol": "CFAP54", "hgnc_symbol": "CFAP54", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:96883349-97269333", "ensembl_id": "ENSG00000188596" } }, "GRch38": { "90": { "location": "12:96489571-96875555", "ensembl_id": "ENSG00000188596" } } }, "hgnc_date_symbol_changed": "2014-09-04" }, "entity_type": "gene", "entity_name": "CFAP54", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 26224312", "36593121", "37725231", "39362668" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spermatogenic failure 98, MIM# 621124", "Ciliary dyskinesia, primary, 54, MIM# 621125" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC88819", "S10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10383", "gene_name": "ribosomal protein S10", "omim_gene": [ "603632" ], "alias_name": null, "gene_symbol": "RPS10", "hgnc_symbol": "RPS10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:34385231-34393902", "ensembl_id": "ENSG00000124614" } }, "GRch38": { "90": { "location": "6:34417454-34426125", "ensembl_id": "ENSG00000124614" } } }, "hgnc_date_symbol_changed": "1997-07-07" }, "entity_type": "gene", "entity_name": "RPS10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20116044", "23718193", "25946618" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diamond-Blackfan anemia 9, MIM# 613308" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 98, "hash_id": null, "name": "Diamond Blackfan anaemia", "disease_group": "Haematological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nDiamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:\r\n-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow\r\n-growth retardation\r\n-craniofacial, upper limb, heart, and urinary system congenital malformations.\r\n\r\nIncreased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.\r\n\r\nDBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.\r\n\r\nPlease also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.", "status": "public", "version": "1.16", "version_created": "2026-03-17T20:20:46.699102+11:00", "relevant_disorders": [ "Anemia", "HP:0001903; Abnormality of thumb morphology", "HP:0001172" ], "stats": { "number_of_genes": 28, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MUPP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7208", "gene_name": "multiple PDZ domain crumbs cell polarity complex component", "omim_gene": [ "603785" ], "alias_name": null, "gene_symbol": "MPDZ", "hgnc_symbol": "MPDZ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:13105703-13279589", "ensembl_id": "ENSG00000107186" } }, "GRch38": { "90": { "location": "9:13105704-13279590", "ensembl_id": "ENSG00000107186" } } }, "hgnc_date_symbol_changed": "1998-12-16" }, "entity_type": "gene", "entity_name": "MPDZ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28556411", "23240096", "30518636", "29499638" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 115, "hash_id": null, "name": "Hydrocephalus_Ventriculomegaly", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.", "status": "public", "version": "0.134", "version_created": "2026-01-28T12:49:29.963583+11:00", "relevant_disorders": [ "Hydrocephalus", "HP:0000238; Ventriculomegaly", "HP:0002119" ], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HI", "PHHI", "SUR1", "MRP8", "ABC36", "HHF1", "TNDM2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:59", "gene_name": "ATP binding cassette subfamily C member 8", "omim_gene": [ "600509" ], "alias_name": [ "sulfonylurea receptor (hyperinsulinemia)" ], "gene_symbol": "ABCC8", "hgnc_symbol": "ABCC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:17414432-17498449", "ensembl_id": "ENSG00000006071" } }, "GRch38": { "90": { "location": "11:17392885-17476845", "ensembl_id": "ENSG00000006071" } } }, "hgnc_date_symbol_changed": "1995-01-10" }, "entity_type": "gene", "entity_name": "ABCC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21054355", "32027066", "32376986" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diabetes mellitus, noninsulin-dependent MIM#125853", "Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857", "Diabetes mellitus, transient neonatal 2 MIM#610374", "Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450", "Hypoglycemia of infancy, leucine-sensitive MIM#240800" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 118, "hash_id": null, "name": "Hyperinsulinism", "disease_group": "Endocrine disorders", "disease_sub_group": "", "description": "This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing", "status": "public", "version": "1.51", "version_created": "2026-03-09T16:58:00.909830+11:00", "relevant_disorders": [ "Hyperinsulinaemia", "HP:0000842;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 35, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hPot1", "DKFZp586D211" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17284", "gene_name": "protection of telomeres 1", "omim_gene": [ "606478" ], "alias_name": null, "gene_symbol": "POT1", "hgnc_symbol": "POT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:124462440-124570037", "ensembl_id": "ENSG00000128513" } }, "GRch38": { "90": { "location": "7:124822386-124929983", "ensembl_id": "ENSG00000128513" } } }, "hgnc_date_symbol_changed": "2004-08-20" }, "entity_type": "gene", "entity_name": "POT1", "confidence_level": "3", "penetrance": "Incomplete", "mode_of_pathogenicity": null, "publications": [ "(PMID:27528712", "PMID: 29693246", "PMID: 34769003", "PMID: 36467798", "PMID: 33216348", "PMID: 24686849", "PMID:24686846", "PMID: 26403419", "PMID: 32492864)" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Telomere syndrome, MONDO:0100137, POT1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "cancer" ], "panel": { "id": 126, "hash_id": null, "name": "Incidentalome", "disease_group": "", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).", "status": "public", "version": "0.433", "version_created": "2026-03-25T17:03:27.624542+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 161, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1583", "gene_name": "cyclin D2", "omim_gene": [ "123833" ], "alias_name": [ "G1/S-specific cyclin D2" ], "gene_symbol": "CCND2", "hgnc_symbol": "CCND2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:4382938-4414516", "ensembl_id": "ENSG00000118971" } }, "GRch38": { "90": { "location": "12:4273772-4305350", "ensembl_id": "ENSG00000118971" } } }, "hgnc_date_symbol_changed": "1991-12-10" }, "entity_type": "gene", "entity_name": "CCND2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 135, "hash_id": null, "name": "Macrocephaly_Megalencephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.161", "version_created": "2026-01-12T09:38:37.890372+11:00", "relevant_disorders": [ "Macrocephaly", "HP:0000256; Megalencephaly", "HP:0001355" ], "stats": { "number_of_genes": 151, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HFE3", "TFRC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11762", "gene_name": "transferrin receptor 2", "omim_gene": [ "604720" ], "alias_name": null, "gene_symbol": "TFR2", "hgnc_symbol": "TFR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:100218039-100240402", "ensembl_id": "ENSG00000106327" } }, "GRch38": { "90": { "location": "7:100620416-100642779", "ensembl_id": "ENSG00000106327" } } }, "hgnc_date_symbol_changed": "1998-06-03" }, "entity_type": "gene", "entity_name": "TFR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24847265", "29743178" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Haemochromatosis, type 3 (MIM#604250)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0551" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30765", "gene_name": "TRAF2 and NCK interacting kinase", "omim_gene": [ "610005" ], "alias_name": null, "gene_symbol": "TNIK", "hgnc_symbol": "TNIK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:170779128-171178197", "ensembl_id": "ENSG00000154310" } }, "GRch38": { "90": { "location": "3:171061339-171460408", "ensembl_id": "ENSG00000154310" } } }, "hgnc_date_symbol_changed": "2004-02-26" }, "entity_type": "gene", "entity_name": "TNIK", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27106596", "23035106" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, autosomal recessive 54, MIM# 617028" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "VEGF-A", "VPF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12680", "gene_name": "vascular endothelial growth factor A", "omim_gene": [ "192240" ], "alias_name": null, "gene_symbol": "VEGFA", "hgnc_symbol": "VEGFA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:43737921-43754224", "ensembl_id": "ENSG00000112715" } }, "GRch38": { "90": { "location": "6:43770184-43786487", "ensembl_id": "ENSG00000112715" } } }, "hgnc_date_symbol_changed": "2006-10-31" }, "entity_type": "gene", "entity_name": "VEGFA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "{Microvascular complications of diabetes 1} 603933" ], "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11721", "gene_name": "tectorin beta", "omim_gene": [ "602653" ], "alias_name": null, "gene_symbol": "TECTB", "hgnc_symbol": "TECTB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:114043493-114064793", "ensembl_id": "ENSG00000119913" } }, "GRch38": { "90": { "location": "10:112283735-112305035", "ensembl_id": "ENSG00000119913" } } }, "hgnc_date_symbol_changed": "1997-08-22" }, "entity_type": "gene", "entity_name": "TECTB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40832383" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hearing loss disorder, MONDO:0005365, TECTB-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "U2HR" ], "biotype": "gene with protein product", "hgnc_id": "HGNC:55085", "gene_name": "HR Upstream Open Reading Frame", "omim_gene": [ "619257" ], "alias_name": [ "HR upstream reading frame" ], "gene_symbol": "HRURF", "hgnc_symbol": "HRURF", "hgnc_release": "2000-01-01", "ensembl_genes": { "GRch37": { "82": { "location": "8:21987971-21988523", "ensembl_id": "ENSG00000288677" } }, "GRch38": { "90": { "location": "8:22130458-22131010", "ensembl_id": "ENSG00000288677" } } }, "hgnc_date_symbol_changed": "2000-01-01" }, "entity_type": "gene", "entity_name": "HRURF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39872230", "40433810", "37012647", "28406533", "26269244", "24961381" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hypotrichosis 4, MIM# 146550" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "H4/j" ], "biotype": null, "hgnc_id": "HGNC:4790", "gene_name": "histone cluster 1 H4 family member e", "omim_gene": [ "602830" ], "alias_name": null, "gene_symbol": "HIST1H4E", "hgnc_symbol": "HIST1H4E", "hgnc_release": "2017-11-03", "ensembl_genes": {}, "hgnc_date_symbol_changed": "2003-02-14" }, "entity_type": "gene", "entity_name": "HIST1H4E", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35202563" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IP3R3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6182", "gene_name": "inositol 1,4,5-trisphosphate receptor type 3", "omim_gene": [ "147267" ], "alias_name": null, "gene_symbol": "ITPR3", "hgnc_symbol": "ITPR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33588142-33664351", "ensembl_id": "ENSG00000096433" } }, "GRch38": { "90": { "location": "6:33620365-33696574", "ensembl_id": "ENSG00000096433" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "ITPR3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32949214", "24627108", "36302985", "39270020", "39560673" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111", "Combined immunodeficiency, MONDO:0015131, ITPR3-related", "Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MP1", "KIAA1104", "hMP1", "PreP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17663", "gene_name": "pitrilysin metallopeptidase 1", "omim_gene": null, "alias_name": [ "PreP peptidasome", "presequence protease, mitochondrial" ], "gene_symbol": "PITRM1", "hgnc_symbol": "PITRM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:3179920-3215003", "ensembl_id": "ENSG00000107959" } }, "GRch38": { "90": { "location": "10:3137728-3172841", "ensembl_id": "ENSG00000107959" } } }, "hgnc_date_symbol_changed": "2002-09-24" }, "entity_type": "gene", "entity_name": "PITRM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26697887", "29764912", "29383861" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia-30 (SCAR30), MIM#619405", "intellectual disability", "cognitive decline", "psychosis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10851" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25590", "gene_name": "oxoglutarate dehydrogenase like", "omim_gene": [ "617513" ], "alias_name": null, "gene_symbol": "OGDHL", "hgnc_symbol": "OGDHL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:50942689-50970425", "ensembl_id": "ENSG00000197444" } }, "GRch38": { "90": { "location": "10:49734643-49762379", "ensembl_id": "ENSG00000197444" } } }, "hgnc_date_symbol_changed": "2004-05-27" }, "entity_type": "gene", "entity_name": "OGDHL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 34800363" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Yoon-Bellen neurodevelopmental syndrome, MIM# 619701", "Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:838", "gene_name": "ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit", "omim_gene": [ "606153" ], "alias_name": null, "gene_symbol": "ATP5E", "hgnc_symbol": "ATP5E", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:57600522-57607437", "ensembl_id": "ENSG00000124172" } }, "GRch38": { "90": { "location": "20:59025467-59032382", "ensembl_id": "ENSG00000124172" } } }, "hgnc_date_symbol_changed": "1993-02-25" }, "entity_type": "gene", "entity_name": "ATP5E", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20566710", "27626380", "20026007", "34954817" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1346", "gene_name": "complement C7", "omim_gene": [ "217070" ], "alias_name": null, "gene_symbol": "C7", "hgnc_symbol": "C7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:40909354-40983041", "ensembl_id": "ENSG00000112936" } }, "GRch38": { "90": { "location": "5:40909252-40982939", "ensembl_id": "ENSG00000112936" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "C7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22206826", "20591074", "17407100", "16771861", "16552475" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "C7 deficiency MIM#610102" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NOT3H", "KIAA0691", "LENG2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7879", "gene_name": "CCR4-NOT transcription complex subunit 3", "omim_gene": [ "604910" ], "alias_name": [ "NOT3 (negative regulator of transcription 3, yeast) homolog" ], "gene_symbol": "CNOT3", "hgnc_symbol": "CNOT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:54641444-54659419", "ensembl_id": "ENSG00000088038" } }, "GRch38": { "90": { "location": "19:54137728-54155681", "ensembl_id": "ENSG00000088038" } } }, "hgnc_date_symbol_changed": "1996-07-19" }, "entity_type": "gene", "entity_name": "CNOT3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31201375" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2972", "gene_name": "dynamin 1", "omim_gene": [ "602377" ], "alias_name": null, "gene_symbol": "DNM1", "hgnc_symbol": "DNM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:130965658-131017527", "ensembl_id": "ENSG00000106976" } }, "GRch38": { "90": { "location": "9:128191655-128255248", "ensembl_id": "ENSG00000106976" } } }, "hgnc_date_symbol_changed": "1992-07-09" }, "entity_type": "gene", "entity_name": "DNM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25262651", "27066543", "33372033", "34172529", "36553519", "37900685" ], "evidence": [ "Literature", "Expert Review Green" ], "phenotypes": [ "Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346", "Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EBP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4298", "gene_name": "galactosidase beta 1", "omim_gene": [ "611458" ], "alias_name": null, "gene_symbol": "GLB1", "hgnc_symbol": "GLB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:33038100-33138722", "ensembl_id": "ENSG00000170266" } }, "GRch38": { "90": { "location": "3:32996608-33097230", "ensembl_id": "ENSG00000170266" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GLB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24156116" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "GM1 gangliosidosis MONDO:0018149", "Mucopolysaccharidosis type IVB (Morquio) MIM#253010" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6663", "gene_name": "loricrin", "omim_gene": [ "152445" ], "alias_name": null, "gene_symbol": "LOR", "hgnc_symbol": "LOR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:153232176-153234598", "ensembl_id": "ENSG00000203782" } }, "GRch38": { "90": { "location": "1:153259700-153262122", "ensembl_id": "ENSG00000203782" } } }, "hgnc_date_symbol_changed": "1992-05-05" }, "entity_type": "gene", "entity_name": "LOR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8673107", "9326398", "9326323", "25234742", "25142840" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Vohwinkel syndrome with ichthyosis, MIM# 604117" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CALC", "EFHA3", "FLJ12684" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1530", "gene_name": "mitochondrial calcium uptake 1", "omim_gene": [ "605084" ], "alias_name": null, "gene_symbol": "MICU1", "hgnc_symbol": "MICU1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:74127098-74385899", "ensembl_id": "ENSG00000107745" } }, "GRch38": { "90": { "location": "10:72367327-72626191", "ensembl_id": "ENSG00000107745" } } }, "hgnc_date_symbol_changed": "2011-06-23" }, "entity_type": "gene", "entity_name": "MICU1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24336167", "29721912", "32395406" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myopathy with extrapyramidal signs, MIM# 615673" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MXD2", "MAD2", "MXI", "bHLHc11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7534", "gene_name": "MAX interactor 1, dimerization protein", "omim_gene": [ "600020" ], "alias_name": null, "gene_symbol": "MXI1", "hgnc_symbol": "MXI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:111967363-112047123", "ensembl_id": "ENSG00000119950" } }, "GRch38": { "90": { "location": "10:110207605-110287365", "ensembl_id": "ENSG00000119950" } } }, "hgnc_date_symbol_changed": "1994-02-16" }, "entity_type": "gene", "entity_name": "MXI1", "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": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NAG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15625", "gene_name": "neuroblastoma amplified sequence", "omim_gene": [ "608025" ], "alias_name": null, "gene_symbol": "NBAS", "hgnc_symbol": "NBAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:15307032-15701454", "ensembl_id": "ENSG00000151779" } }, "GRch38": { "90": { "location": "2:15166909-15561330", "ensembl_id": "ENSG00000151779" } } }, "hgnc_date_symbol_changed": "2009-02-16" }, "entity_type": "gene", "entity_name": "NBAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31761904", "35902954" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800", "Infantile liver failure syndrome 2, MIM# 616483", "Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7881", "gene_name": "notch 1", "omim_gene": [ "190198" ], "alias_name": null, "gene_symbol": "NOTCH1", "hgnc_symbol": "NOTCH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139388896-139440314", "ensembl_id": "ENSG00000148400" } }, "GRch38": { "90": { "location": "9:136494444-136545862", "ensembl_id": "ENSG00000148400" } } }, "hgnc_date_symbol_changed": "1992-02-13" }, "entity_type": "gene", "entity_name": "NOTCH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "25963545", "25132448", "35947102" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Adams-Oliver syndrome 5 (MIM#616028)", "Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UMPH1", "PSN1", "PN-I", "UMPH", "P5'N-1", "cN-III", "p36", "POMP", "hUMP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17820", "gene_name": "5'-nucleotidase, cytosolic IIIA", "omim_gene": [ "606224" ], "alias_name": [ "lupin" ], "gene_symbol": "NT5C3A", "hgnc_symbol": "NT5C3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:33053742-33102409", "ensembl_id": "ENSG00000122643" } }, "GRch38": { "90": { "location": "7:33014114-33062797", "ensembl_id": "ENSG00000122643" } } }, "hgnc_date_symbol_changed": "2013-03-06" }, "entity_type": "gene", "entity_name": "NT5C3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11369620", "12714505", "30951028", "25153905" ], "evidence": [ "Expert Review Green", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PSA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19129", "gene_name": "phosphoserine aminotransferase 1", "omim_gene": [ "610936" ], "alias_name": null, "gene_symbol": "PSAT1", "hgnc_symbol": "PSAT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:80912059-80945009", "ensembl_id": "ENSG00000135069" } }, "GRch38": { "90": { "location": "9:78297143-78330093", "ensembl_id": "ENSG00000135069" } } }, "hgnc_date_symbol_changed": "2003-05-19" }, "entity_type": "gene", "entity_name": "PSAT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32077105" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neurometabolic disorder due to serine deficiency MONDO:0018162, PSAT1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DXS8237E", "KIAA0122", "GPATC9", "ZRANB5", "GPATCH9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9896", "gene_name": "RNA binding motif protein 10", "omim_gene": [ "300080" ], "alias_name": null, "gene_symbol": "RBM10", "hgnc_symbol": "RBM10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:47004268-47046212", "ensembl_id": "ENSG00000182872" } }, "GRch38": { "90": { "location": "X:47144869-47186813", "ensembl_id": "ENSG00000182872" } } }, "hgnc_date_symbol_changed": "2000-02-21" }, "entity_type": "gene", "entity_name": "RBM10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20451169", "24259342", "30450804", "30189253", "33340101" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "TARP syndrome, MIM# 311900" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDG1N" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30220", "gene_name": "RFT1 homolog", "omim_gene": [ "611908" ], "alias_name": [ "congenital disorder of glycosylation 1N" ], "gene_symbol": "RFT1", "hgnc_symbol": "RFT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:53122499-53164478", "ensembl_id": "ENSG00000163933" } }, "GRch38": { "90": { "location": "3:53088483-53130462", "ensembl_id": "ENSG00000163933" } } }, "hgnc_date_symbol_changed": "2005-01-19" }, "entity_type": "gene", "entity_name": "RFT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18313027", "19701946", "19856127", "23111317", "30071302", "29923091", "27927990", "26892341" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type In, MIM# 612015", "RFT1-CDG, MONDO:0012783" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 137, "hash_id": null, "name": "Mendeliome", "disease_group": "", "disease_sub_group": "", "description": "The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.", "status": "public", "version": "1.4732", "version_created": "2026-04-08T11:57:48.690712+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 6012, "number_of_strs": 43, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0024", "PSSA", "PSS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9587", "gene_name": "phosphatidylserine synthase 1", "omim_gene": [ "612792" ], "alias_name": null, "gene_symbol": "PTDSS1", "hgnc_symbol": "PTDSS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:97273943-97349223", "ensembl_id": "ENSG00000156471" } }, "GRch38": { "90": { "location": "8:96261715-96336995", "ensembl_id": "ENSG00000156471" } } }, "hgnc_date_symbol_changed": "2000-01-21" }, "entity_type": "gene", "entity_name": "PTDSS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24241535", "29341480", "31403251" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Lenz-Majewski hyperostotic dwarfism MIM#151050" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 150, "hash_id": null, "name": "Osteopetrosis", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.", "status": "public", "version": "1.0", "version_created": "2025-12-22T12:45:57.007049+11:00", "relevant_disorders": [ "Increased bone mineral density", "HP:0011001" ], "stats": { "number_of_genes": 37, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hFrtz", "fritz", "BBS15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28027", "gene_name": "WD repeat containing planar cell polarity effector", "omim_gene": [ "613580" ], "alias_name": null, "gene_symbol": "WDPCP", "hgnc_symbol": "WDPCP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:63348518-64054977", "ensembl_id": "ENSG00000143951" } }, "GRch38": { "90": { "location": "2:63121383-63827843", "ensembl_id": "ENSG00000143951" } } }, "hgnc_date_symbol_changed": "2011-02-01" }, "entity_type": "gene", "entity_name": "WDPCP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20671153", "25427950", "32055034", "29588463", "28289185" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Bardet-Biedl syndrome 15, MIM# 615992", "OFD", "Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 159, "hash_id": null, "name": "Polydactyly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.", "status": "public", "version": "0.301", "version_created": "2026-03-12T11:30:58.449890+11:00", "relevant_disorders": [ "Polydactyly", "HP:0010442" ], "stats": { "number_of_genes": 141, "number_of_strs": 2, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HsT2651", "CTS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12405", "gene_name": "transthyretin", "omim_gene": [ "176300" ], "alias_name": null, "gene_symbol": "TTR", "hgnc_symbol": "TTR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:29171689-29178974", "ensembl_id": "ENSG00000118271" } }, "GRch38": { "90": { "location": "18:31591726-31599021", "ensembl_id": "ENSG00000118271" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TTR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301373", "38484868" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "hereditary ATTR amyloidosis MONDO:0017132" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 191, "hash_id": null, "name": "Amyloidosis", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes that cause amyloidosis, characterised by a buildup of abnormal amyloid deposits in the heart, brain, kidneys, spleen and other parts of the body.\r\n\r\nThe panel was originally named \"Renal Amyloidosis\" and was developed by the KidGen Collaborative. It is also a consensus panel used by VCGS and RMH.", "status": "public", "version": "1.1", "version_created": "2025-07-04T20:21:06.835536+10:00", "relevant_disorders": [ "Renal amyloidosis", "HP:0001917; Amyloidosis", "HP:0011034" ], "stats": { "number_of_genes": 11, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "KidGen", "slug": "kidgen", "description": "Panel used by the KidGen Collaborative." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ATP8", "A6L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7415", "gene_name": "mitochondrially encoded ATP synthase 8", "omim_gene": [ "516070" ], "alias_name": null, "gene_symbol": "MT-ATP8", "hgnc_symbol": "MT-ATP8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:8366-8572", "ensembl_id": "ENSG00000228253" } }, "GRch38": { "90": { "location": "MT:8366-8572", "ensembl_id": "ENSG00000228253" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-ATP8", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24153443", "20207608", "32858252", "33340416", "32858252", "19759059", "22919063" ], "evidence": [ "Expert Review Amber", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease MONDO:0044970, MT-ATP8 related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 202, "hash_id": null, "name": "Genetic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.", "status": "public", "version": "1.408", "version_created": "2026-04-02T11:46:13.244668+11:00", "relevant_disorders": [ "Seizure", "HP:0001250; Epileptic encephalopathy", "HP:0200134; EEG abnormality", "HP:0002353" ], "stats": { "number_of_genes": 1154, "number_of_strs": 9, "number_of_regions": 13 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "iPLA2", "PNPLA9", "PARK14", "iPLA2beta", "NBIA2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9039", "gene_name": "phospholipase A2 group VI", "omim_gene": [ "603604" ], "alias_name": [ "neurodegeneration with brain iron accumulation 2" ], "gene_symbol": "PLA2G6", "hgnc_symbol": "PLA2G6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:38507502-38601697", "ensembl_id": "ENSG00000184381" } }, "GRch38": { "90": { "location": "22:38111495-38205690", "ensembl_id": "ENSG00000184381" } } }, "hgnc_date_symbol_changed": "1998-09-07" }, "entity_type": "gene", "entity_name": "PLA2G6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25348461", "26001724", "26506412", "30528460", "16783378" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Infantile neuroaxonal dystrophy 1 MIM#256600", "Neurodegeneration with brain iron accumulation 2B\tMIM#610217", "Parkinson disease 14, autosomal recessive MIM#612953" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ22187", "MGA3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8142", "gene_name": "OPA3, outer mitochondrial membrane lipid metabolism regulator", "omim_gene": [ "606580" ], "alias_name": null, "gene_symbol": "OPA3", "hgnc_symbol": "OPA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46030685-46105470", "ensembl_id": "ENSG00000125741" } }, "GRch38": { "90": { "location": "19:45527427-45602212", "ensembl_id": "ENSG00000125741" } } }, "hgnc_date_symbol_changed": "1999-03-12" }, "entity_type": "gene", "entity_name": "OPA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25159689", "31119193", "31928268" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Australian Genomics Health Alliance Mitochondrial Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR", "Optic atrophy 3 with cataract (MIM#165300), AD" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 203, "hash_id": null, "name": "Mitochondrial disease", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.", "status": "public", "version": "1.16", "version_created": "2026-03-13T18:22:35.610861+11:00", "relevant_disorders": [ "Increased serum lactate", "HP:0002151; Abnormality of mitochondrial metabolism", "HP:0003287" ], "stats": { "number_of_genes": 438, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10511", "Arcp" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17684", "gene_name": "armadillo repeat containing 1", "omim_gene": null, "alias_name": null, "gene_symbol": "ARMC1", "hgnc_symbol": "ARMC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:66514694-66546442", "ensembl_id": "ENSG00000104442" } }, "GRch38": { "90": { "location": "8:65602456-65634217", "ensembl_id": "ENSG00000104442" } } }, "hgnc_date_symbol_changed": "2004-09-16" }, "entity_type": "gene", "entity_name": "ARMC1", "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": 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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:40038", "gene_name": "PET100 homolog", "omim_gene": [ "614770" ], "alias_name": null, "gene_symbol": "PET100", "hgnc_symbol": "PET100", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:7694623-7696842", "ensembl_id": "ENSG00000229833" } }, "GRch38": { "90": { "location": "19:7629737-7631956", "ensembl_id": "ENSG00000229833" } } }, "hgnc_date_symbol_changed": "2012-06-25" }, "entity_type": "gene", "entity_name": "PET100", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24462369", "25293719", "31406627" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 206, "hash_id": null, "name": "Regression", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.", "status": "public", "version": "0.611", "version_created": "2026-04-07T13:48:08.700916+10:00", "relevant_disorders": [ "Developmental regression", "HP:0002376" ], "stats": { "number_of_genes": 442, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TFIIIB150", "TFC5", "TFIIIB90", "KIAA1689", "HSA238520", "KIAA1241" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13652", "gene_name": "B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB", "omim_gene": [ "607012" ], "alias_name": null, "gene_symbol": "BDP1", "hgnc_symbol": "BDP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:70751442-70863649", "ensembl_id": "ENSG00000145734" } }, "GRch38": { "90": { "location": "5:71455615-71567820", "ensembl_id": "ENSG00000145734" } } }, "hgnc_date_symbol_changed": "2001-11-30" }, "entity_type": "gene", "entity_name": "BDP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24312468", "25060281" ], "evidence": [ "Expert Review Red", "Melbourne Genomics Health Alliance Deafness Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Deafness, autosomal recessive 112, MIM#618257" ], "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": [ "NUP358", "ADANE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9848", "gene_name": "RAN binding protein 2", "omim_gene": [ "601181" ], "alias_name": [ "nucleoporin 358" ], "gene_symbol": "RANBP2", "hgnc_symbol": "RANBP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:109335937-109402267", "ensembl_id": "ENSG00000153201" } }, "GRch38": { "90": { "location": "2:108719481-108785811", "ensembl_id": "ENSG00000153201" } } }, "hgnc_date_symbol_changed": "1996-11-14" }, "entity_type": "gene", "entity_name": "RANBP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19118815", "25128471", "25522933", "32048120" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "{Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 231, "hash_id": null, "name": "Defects of intrinsic and innate immunity", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).", "status": "public", "version": "1.36", "version_created": "2026-04-08T12:35:08.612526+10:00", "relevant_disorders": [ "Unusual infections", "HP:0032101" ], "stats": { "number_of_genes": 86, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CRP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1836", "gene_name": "CCAAT/enhancer binding protein epsilon", "omim_gene": [ "600749" ], "alias_name": null, "gene_symbol": "CEBPE", "hgnc_symbol": "CEBPE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23586513-23588825", "ensembl_id": "ENSG00000092067" } }, "GRch38": { "90": { "location": "14:23117304-23119616", "ensembl_id": "ENSG00000092067" } } }, "hgnc_date_symbol_changed": "1992-06-24" }, "entity_type": "gene", "entity_name": "CEBPE", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "PMID: 31201888" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Immunodeficiency 108 with autoinflammation , MIM#\t260570" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 238, "hash_id": null, "name": "Autoinflammatory Disorders", "disease_group": "Immunological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).", "status": "public", "version": "2.46", "version_created": "2026-03-16T12:22:08.572710+11:00", "relevant_disorders": [ "Fever HP:0001945;Systemic autoinflammation HP:0033428" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ38348", "CENPY", "CENP-Y" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26768", "gene_name": "G-patch domain containing 11", "omim_gene": null, "alias_name": [ "centromere protein Y" ], "gene_symbol": "GPATCH11", "hgnc_symbol": "GPATCH11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:37311594-37326387", "ensembl_id": "ENSG00000152133" } }, "GRch38": { "90": { "location": "2:37084451-37099244", "ensembl_id": "ENSG00000152133" } } }, "hgnc_date_symbol_changed": "2013-01-28" }, "entity_type": "gene", "entity_name": "GPATCH11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39572588" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related", "Leber congenital amaurosis and developmental delay" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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": [ "STM7", "MSS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8995", "gene_name": "phosphatidylinositol-4-phosphate 5-kinase type 1 beta", "omim_gene": [ "602745" ], "alias_name": null, "gene_symbol": "PIP5K1B", "hgnc_symbol": "PIP5K1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:71320575-71624092", "ensembl_id": "ENSG00000107242" } }, "GRch38": { "90": { "location": "9:68705414-69009176", "ensembl_id": "ENSG00000107242" } } }, "hgnc_date_symbol_changed": "1998-09-18" }, "entity_type": "gene", "entity_name": "PIP5K1B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genetic Health Queensland" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.745", "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": [ "DWF-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3497", "gene_name": "EvC ciliary complex subunit 1", "omim_gene": [ "604831" ], "alias_name": null, "gene_symbol": "EVC", "hgnc_symbol": "EVC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:5712924-5830772", "ensembl_id": "ENSG00000072840" } }, "GRch38": { "90": { "location": "4:5711197-5814305", "ensembl_id": "ENSG00000072840" } } }, "hgnc_date_symbol_changed": "1995-04-24" }, "entity_type": "gene", "entity_name": "EVC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Illumina TruGenome Clinical Sequencing Services", "UKGTN", "Radboud University Medical Center, Nijmegen", "NHS GMS", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ellis-van Creveld syndrome, 225500", "ECV1", "Ellis-van Creveld Syndrome", "Ellis-van Creveld syndrome, 225500Weyers acrodental dysostosis, 193530" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IKK-gamma", "NEMO", "Fip3p", "FIP-3", "FIP3", "ZC2HC9" ], "biotype": null, "hgnc_id": "HGNC:5961", "gene_name": "inhibitor of nuclear factor kappa B kinase subunit gamma", "omim_gene": [ "300248" ], "alias_name": null, "gene_symbol": "IKBKG", "hgnc_symbol": "IKBKG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153769414-153796782", "ensembl_id": "ENSG00000073009" } }, "GRch38": { "90": { "location": "X:154541199-154565046", "ensembl_id": "ENSG00000269335" } } }, "hgnc_date_symbol_changed": "1998-09-30" }, "entity_type": "gene", "entity_name": "IKBKG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "UKGTN", "Radboud University Medical Center, Nijmegen", "NHS GMS", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301", "Incontinentia pigmenti 308300" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NKX3B", "NKX3.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:951", "gene_name": "NK3 homeobox 2", "omim_gene": [ "602183" ], "alias_name": null, "gene_symbol": "NKX3-2", "hgnc_symbol": "NKX3-2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:13542454-13546674", "ensembl_id": "ENSG00000109705" } }, "GRch38": { "90": { "location": "4:13540830-13545050", "ensembl_id": "ENSG00000109705" } } }, "hgnc_date_symbol_changed": "2007-07-26" }, "entity_type": "gene", "entity_name": "NKX3-2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "UKGTN", "Expert Review Green", "Radboud University Medical Center, Nijmegen", "NHS GMS", "Expert list", "Emory Genetics Laboratory" ], "phenotypes": [ "Spondylo-megaepiphyseal-metaphyseal dysplasia 613330" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.430", "version_created": "2026-04-02T18:26:54.505675+11:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 6 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CGI-40" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24272", "gene_name": "SID1 transmembrane family member 2", "omim_gene": [ "617551" ], "alias_name": null, "gene_symbol": "SIDT2", "hgnc_symbol": "SIDT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:117049449-117068160", "ensembl_id": "ENSG00000149577" } }, "GRch38": { "90": { "location": "11:117178733-117197445", "ensembl_id": "ENSG00000149577" } } }, "hgnc_date_symbol_changed": "2004-08-20" }, "entity_type": "gene", "entity_name": "SIDT2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40541391" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Lysosomal storage disease, MONDO:0002561, SIDT2-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC22916" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21701", "gene_name": "BRCA1 associated ATM activator 1", "omim_gene": [ "614506" ], "alias_name": [ "BRCA1-associated protein required for ATM activation protein 1" ], "gene_symbol": "BRAT1", "hgnc_symbol": "BRAT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:2577511-2595361", "ensembl_id": "ENSG00000106009" } }, "GRch38": { "90": { "location": "7:2537877-2555727", "ensembl_id": "ENSG00000106009" } } }, "hgnc_date_symbol_changed": "2011-03-22" }, "entity_type": "gene", "entity_name": "BRAT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26483087", "26494257", "27282546" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 271, "hash_id": null, "name": "Ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.", "status": "public", "version": "1.203", "version_created": "2026-04-07T13:48:57.123718+10:00", "relevant_disorders": [ "Ataxia", "HP:0001251" ], "stats": { "number_of_genes": 328, "number_of_strs": 21, "number_of_regions": 3 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TrpRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12730", "gene_name": "tryptophanyl tRNA synthetase 2, mitochondrial", "omim_gene": [ "604733" ], "alias_name": [ "tryptophan tRNA ligase 2, mitochondrial" ], "gene_symbol": "WARS2", "hgnc_symbol": "WARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:119573839-119683294", "ensembl_id": "ENSG00000116874" } }, "GRch38": { "90": { "location": "1:119031216-119140671", "ensembl_id": "ENSG00000116874" } } }, "hgnc_date_symbol_changed": "1999-06-11" }, "entity_type": "gene", "entity_name": "WARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31282308", "28650581", "30920170" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "XPB", "BTF2", "RAD25", "TFIIH", "GTF2H" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3435", "gene_name": "ERCC excision repair 3, TFIIH core complex helicase subunit", "omim_gene": [ "133510" ], "alias_name": [ "xeroderma pigmentosum group B complementing" ], "gene_symbol": "ERCC3", "hgnc_symbol": "ERCC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:128014866-128051752", "ensembl_id": "ENSG00000163161" } }, "GRch38": { "90": { "location": "2:127257290-127294176", "ensembl_id": "ENSG00000163161" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ERCC3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert list" ], "phenotypes": [ "Trichothiodystrophy 2, photosensitive 616390" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 298, "hash_id": null, "name": "Leukodystrophy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.", "status": "public", "version": "0.394", "version_created": "2026-04-07T13:49:15.516142+10:00", "relevant_disorders": [ "Leukodystrophy", "HP:0002415; Abnormal cerebral white matter morphology", "HP:0002500; Abnormal CNS myelination", "HP:0011400" ], "stats": { "number_of_genes": 262, "number_of_strs": 3, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSA9947", "CLN12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30213", "gene_name": "ATPase 13A2", "omim_gene": [ "610513" ], "alias_name": null, "gene_symbol": "ATP13A2", "hgnc_symbol": "ATP13A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:17312453-17338423", "ensembl_id": "ENSG00000159363" } }, "GRch38": { "90": { "location": "1:16985958-17011928", "ensembl_id": "ENSG00000159363" } } }, "hgnc_date_symbol_changed": "2005-01-12" }, "entity_type": "gene", "entity_name": "ATP13A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27217339", "28137957" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Spastic paraplegia 78, autosomal recessive, 617225", "Kufor-Rakeb syndrome, 606693 AR", "complicated hereditary spastic paraplegia", "Adult-onset lower-limb predominant spastic paraparesis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.", "status": "public", "version": "1.149", "version_created": "2026-03-19T11:56:36.708923+11:00", "relevant_disorders": [ "Spasticity", "HP:0001257" ], "stats": { "number_of_genes": 176, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CLN10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2529", "gene_name": "cathepsin D", "omim_gene": [ "116840" ], "alias_name": [ "ceroid-lipofuscinosis, neuronal 10" ], "gene_symbol": "CTSD", "hgnc_symbol": "CTSD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:1773982-1785222", "ensembl_id": "ENSG00000117984" } }, "GRch38": { "90": { "location": "11:1752752-1764573", "ensembl_id": "ENSG00000117984" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CTSD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 10, 610127" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 331, "hash_id": null, "name": "Progressive Myoclonic Epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.", "status": "public", "version": "0.28", "version_created": "2025-11-21T09:34:57.163082+11:00", "relevant_disorders": [ "Myoclonic seizure", "HP:0032794" ], "stats": { "number_of_genes": 33, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5006", "gene_name": "3-hydroxy-3-methylglutaryl-CoA reductase", "omim_gene": [ "142910" ], "alias_name": [ "hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)" ], "gene_symbol": "HMGCR", "hgnc_symbol": "HMGCR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:74632154-74657929", "ensembl_id": "ENSG00000113161" } }, "GRch38": { "90": { "location": "5:75336329-75362104", "ensembl_id": "ENSG00000113161" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HMGCR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37167966", "36745799" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6416", "gene_name": "keratin 14", "omim_gene": [ "148066" ], "alias_name": [ "epidermolysis bullosa simplex, Dowling-Meara, Koebner" ], "gene_symbol": "KRT14", "hgnc_symbol": "KRT14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39738531-39743173", "ensembl_id": "ENSG00000186847" } }, "GRch38": { "90": { "location": "17:41582279-41586921", "ensembl_id": "ENSG00000186847" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "KRT14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16960809", "30968399" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Naegeli-Franceschetti-Jadassohn syndrome\tMIM#161000", "Dermatopathia pigmentosa reticularis MIM#125595" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3089, "hash_id": null, "name": "Ectodermal Dysplasia", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.", "status": "public", "version": "0.110", "version_created": "2026-03-31T16:43:36.155380+11:00", "relevant_disorders": [ "Ectodermal dysplasia", "HP:0000968" ], "stats": { "number_of_genes": 61, "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": [ "CLTD", "CLH22", "CHC22" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2093", "gene_name": "clathrin heavy chain like 1", "omim_gene": [ "601273" ], "alias_name": null, "gene_symbol": "CLTCL1", "hgnc_symbol": "CLTCL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:19166986-19279239", "ensembl_id": "ENSG00000070371" } }, "GRch38": { "90": { "location": "22:19179473-19291716", "ensembl_id": "ENSG00000070371" } } }, "hgnc_date_symbol_changed": "1995-09-08" }, "entity_type": "gene", "entity_name": "CLTCL1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26068709", "29402896" ], "evidence": [ "Expert Review Amber", "Literaure", "Review", "Genomics England PanelApp" ], "phenotypes": [ "Congenital insensitivity to pain" ], "mode_of_inheritance": "Unknown", "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": null }, { "gene_data": { "alias": [ "ACHM4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4394", "gene_name": "G protein subunit alpha transducin 2", "omim_gene": [ "139340" ], "alias_name": null, "gene_symbol": "GNAT2", "hgnc_symbol": "GNAT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:110145889-110155679", "ensembl_id": "ENSG00000134183" } }, "GRch38": { "90": { "location": "1:109603267-109619929", "ensembl_id": "ENSG00000134183" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GNAT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Achromatopsia-4, 613856 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARH", "ARH2", "FHCB1", "FHCB2", "MGC34705", "DKFZp586D0624" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18640", "gene_name": "low density lipoprotein receptor adaptor protein 1", "omim_gene": [ "605747" ], "alias_name": null, "gene_symbol": "LDLRAP1", "hgnc_symbol": "LDLRAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:25870071-25895377", "ensembl_id": "ENSG00000157978" } }, "GRch38": { "90": { "location": "1:25543580-25568886", "ensembl_id": "ENSG00000157978" } } }, "hgnc_date_symbol_changed": "2005-02-24" }, "entity_type": "gene", "entity_name": "LDLRAP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hypercholesterolemia, familial, autosomal recessive, 603813 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "WINS1", "LINS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30922", "gene_name": "lines homolog 1", "omim_gene": [ "610350" ], "alias_name": [ "lines homolog (Drosophila)", "lines homolog 1 (Drosophila)" ], "gene_symbol": "LINS1", "hgnc_symbol": "LINS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:101099574-101143435", "ensembl_id": "ENSG00000140471" } }, "GRch38": { "90": { "location": "15:100559369-100603230", "ensembl_id": "ENSG00000140471" } } }, "hgnc_date_symbol_changed": "2015-08-18" }, "entity_type": "gene", "entity_name": "LINS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mental retardation, autosomal recessive 27, 614340 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6677", "gene_name": "lipoprotein lipase", "omim_gene": [ "609708" ], "alias_name": null, "gene_symbol": "LPL", "hgnc_symbol": "LPL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:19759228-19824769", "ensembl_id": "ENSG00000175445" } }, "GRch38": { "90": { "location": "8:19901717-19967258", "ensembl_id": "ENSG00000175445" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "LPL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lipoprotein lipase deficiency, 238600 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7525", "gene_name": "muscle associated receptor tyrosine kinase", "omim_gene": [ "601296" ], "alias_name": null, "gene_symbol": "MUSK", "hgnc_symbol": "MUSK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:113431051-113563859", "ensembl_id": "ENSG00000030304" } }, "GRch38": { "90": { "location": "9:110668771-110801620", "ensembl_id": "ENSG00000030304" } } }, "hgnc_date_symbol_changed": "1997-04-10" }, "entity_type": "gene", "entity_name": "MUSK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FAB", "FLJ34064", "FAAP95" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3583", "gene_name": "Fanconi anemia complementation group B", "omim_gene": [ "300515" ], "alias_name": null, "gene_symbol": "FANCB", "hgnc_symbol": "FANCB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:14861529-14891191", "ensembl_id": "ENSG00000181544" } }, "GRch38": { "90": { "location": "X:14843407-14873069", "ensembl_id": "ENSG00000181544" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "FANCB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Fanconi anemia, complementation group B, 300514 (3)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARC92", "ACID1", "TCBAP0758", "DKFZp434K0512" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28845", "gene_name": "mediator complex subunit 25", "omim_gene": [ "610197" ], "alias_name": null, "gene_symbol": "MED25", "hgnc_symbol": "MED25", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50321539-50342073", "ensembl_id": "ENSG00000104973" } }, "GRch38": { "90": { "location": "19:49818279-49838816", "ensembl_id": "ENSG00000104973" } } }, "hgnc_date_symbol_changed": "2004-11-09" }, "entity_type": "gene", "entity_name": "MED25", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25792360", "32816121" ], "evidence": [ "Expert Review Green", "BabySeq Category C gene" ], "phenotypes": [ "Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449", "Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HADH1", "SCHAD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4799", "gene_name": "hydroxyacyl-CoA dehydrogenase", "omim_gene": [ "601609" ], "alias_name": null, "gene_symbol": "HADH", "hgnc_symbol": "HADH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:108910870-108956331", "ensembl_id": "ENSG00000138796" } }, "GRch38": { "90": { "location": "4:107989714-108035175", "ensembl_id": "ENSG00000138796" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HADH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category C gene", "BabySeq Category A gene" ], "phenotypes": [ "Hyperinsulinemic hypoglycemia, familial, 4" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20487", "SDH5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26034", "gene_name": "succinate dehydrogenase complex assembly factor 2", "omim_gene": [ "613019" ], "alias_name": null, "gene_symbol": "SDHAF2", "hgnc_symbol": "SDHAF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:61197514-61215001", "ensembl_id": "ENSG00000167985" } }, "GRch38": { "90": { "location": "11:61430042-61447529", "ensembl_id": "ENSG00000167985" } } }, "hgnc_date_symbol_changed": "2009-08-10" }, "entity_type": "gene", "entity_name": "SDHAF2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "BabySeq Category B gene" ], "phenotypes": [ "Hereditary Paraganglioma-Pheochromocytoma Syndromes" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3302, "hash_id": null, "name": "Additional findings_Paediatric", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).", "status": "public", "version": "0.280", "version_created": "2026-01-16T11:59:53.863455+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1425, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Australian Genomics", "slug": "australian-genomics", "description": "Panel used by Australian Genomics project." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RPAC2", "RPA16", "RPO1-3", "RPA9", "MGC9850" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20422", "gene_name": "RNA polymerase I subunit D", "omim_gene": [ "613715" ], "alias_name": null, "gene_symbol": "POLR1D", "hgnc_symbol": "POLR1D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:28194903-28241548", "ensembl_id": "ENSG00000186184" } }, "GRch38": { "90": { "location": "13:27620742-27744237", "ensembl_id": "ENSG00000186184" } } }, "hgnc_date_symbol_changed": "2003-04-01" }, "entity_type": "gene", "entity_name": "POLR1D", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "TCS2", "TREACHER COLLINS SYNDROME 2" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HGPS", "MADA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6636", "gene_name": "lamin A/C", "omim_gene": [ "150330" ], "alias_name": [ "mandibuloacral dysplasia type A" ], "gene_symbol": "LMNA", "hgnc_symbol": "LMNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156052364-156109880", "ensembl_id": "ENSG00000160789" } }, "GRch38": { "90": { "location": "1:156082573-156140089", "ensembl_id": "ENSG00000160789" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "LMNA", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber" ], "phenotypes": [ "RESTRICTIVE DERMOPATHY, LETHAL" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12716", "gene_name": "transient receptor potential cation channel subfamily V member 1", "omim_gene": [ "602076" ], "alias_name": null, "gene_symbol": "TRPV1", "hgnc_symbol": "TRPV1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:3468738-3500392", "ensembl_id": "ENSG00000196689" } }, "GRch38": { "90": { "location": "17:3565444-3609411", "ensembl_id": "ENSG00000196689" } } }, "hgnc_date_symbol_changed": "2002-02-01" }, "entity_type": "gene", "entity_name": "TRPV1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29930394", "32471784" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Malignant hyperthermia susceptibility" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3378, "hash_id": null, "name": "Malignant Hyperthermia Susceptibility", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that are established causes of malignant hyperthermia susceptibility (MHS). It can be used when the clinical and laboratory findings suggest a diagnosis of MHS, such as a positive muscle biopsy contracture test or positive family history. This panel is used by the Royal Melbourne Hospital.\r\n\r\nThe Skeletal Muscle Channelopathies, Rhabdomyolysis, or Myopathy panels may considered where the clinical presentation is less clearly indicative of malignant hyperthermia.", "status": "public", "version": "1.8", "version_created": "2024-05-10T10:03:11.680206+10:00", "relevant_disorders": [ "Malignant hyperthermia", "HP:0002047; Rhabdomyolysis", "HP:0003201" ], "stats": { "number_of_genes": 7, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ECAT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:33699", "gene_name": "KH domain containing 3 like, subcortical maternal complex member", "omim_gene": [ "611687" ], "alias_name": [ "ES cell associated transcript 1" ], "gene_symbol": "KHDC3L", "hgnc_symbol": "KHDC3L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:74072400-74073894", "ensembl_id": "ENSG00000203908" } }, "GRch38": { "90": { "location": "6:73362677-73364171", "ensembl_id": "ENSG00000203908" } } }, "hgnc_date_symbol_changed": "2012-06-25" }, "entity_type": "gene", "entity_name": "KHDC3L", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "23232697", "31847873", "23125094", "21885028" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hydatiform mole recurrent 2 MIM#614293" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3663, "hash_id": null, "name": "Imprinting disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.", "status": "public", "version": "1.9", "version_created": "2025-11-11T22:13:10.948475+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 26, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32769", "FLJ16363" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17109", "gene_name": "ADAM metallopeptidase with thrombospondin type 1 motif 17", "omim_gene": [ "607511" ], "alias_name": null, "gene_symbol": "ADAMTS17", "hgnc_symbol": "ADAMTS17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:100511794-100882210", "ensembl_id": "ENSG00000140470" } }, "GRch38": { "90": { "location": "15:99971589-100342005", "ensembl_id": "ENSG00000140470" } } }, "hgnc_date_symbol_changed": "2002-02-13" }, "entity_type": "gene", "entity_name": "ADAMTS17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert list", "Expert Review Green" ], "phenotypes": [ "Weill-Marchesani syndrome type 4" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3729, "hash_id": null, "name": "Hand and foot malformations", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.", "status": "public", "version": "0.89", "version_created": "2026-04-07T13:49:34.993963+10:00", "relevant_disorders": [ "Abnormal hand morphology", "HP:0005922; Abnormal foot morphology", "HP:0001760" ], "stats": { "number_of_genes": 101, "number_of_strs": 1, "number_of_regions": 5 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "eIF3-theta", "eIF3-p170", "KIAA0139", "eIF3a", "TIF32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3271", "gene_name": "eukaryotic translation initiation factor 3 subunit A", "omim_gene": [ "602039" ], "alias_name": null, "gene_symbol": "EIF3A", "hgnc_symbol": "EIF3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:120794356-120840316", "ensembl_id": "ENSG00000107581" } }, "GRch38": { "90": { "location": "10:119033670-119080823", "ensembl_id": "ENSG00000107581" } } }, "hgnc_date_symbol_changed": "2007-07-27" }, "entity_type": "gene", "entity_name": "EIF3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41033306" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Syndromic disease (MONDO:0002254), EIF3A-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DPC4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6770", "gene_name": "SMAD family member 4", "omim_gene": [ "600993" ], "alias_name": null, "gene_symbol": "SMAD4", "hgnc_symbol": "SMAD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:48494410-48611415", "ensembl_id": "ENSG00000141646" } }, "GRch38": { "90": { "location": "18:51028394-51085045", "ensembl_id": "ENSG00000141646" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "SMAD4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Myhre syndrome, OMIM#139210, MONDO:0007688" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DERMO1", "Dermo-1", "bHLHa39" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20670", "gene_name": "twist family bHLH transcription factor 2", "omim_gene": [ "607556" ], "alias_name": null, "gene_symbol": "TWIST2", "hgnc_symbol": "TWIST2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:239756673-239795893", "ensembl_id": "ENSG00000233608" } }, "GRch38": { "90": { "location": "2:238848032-238910543", "ensembl_id": "ENSG00000233608" } } }, "hgnc_date_symbol_changed": "2003-03-25" }, "entity_type": "gene", "entity_name": "TWIST2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "26119818", "20691403" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Ablepharon-macrostomia syndrome, 200110", "Barber-Say syndrome, 209885" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GAP", "CM-AVM", "p120GAP", "p120RASGAP", "p120" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9871", "gene_name": "RAS p21 protein activator 1", "omim_gene": [ "139150" ], "alias_name": [ "capillary malformation-arteriovenous malformation", "p120 RAS GTPase activating protein" ], "gene_symbol": "RASA1", "hgnc_symbol": "RASA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:86563705-86687748", "ensembl_id": "ENSG00000145715" } }, "GRch38": { "90": { "location": "5:87267888-87391931", "ensembl_id": "ENSG00000145715" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "RASA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33461977", "36980822" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Literature", "Expert Review" ], "phenotypes": [ "Capillary malformation-arteriovenous malformation 1, MIM# 608354" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LGMD2I", "MDC1C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17997", "gene_name": "fukutin related protein", "omim_gene": [ "606596" ], "alias_name": null, "gene_symbol": "FKRP", "hgnc_symbol": "FKRP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:47249303-47280245", "ensembl_id": "ENSG00000181027" } }, "GRch38": { "90": { "location": "19:46746046-46776988", "ensembl_id": "ENSG00000181027" } } }, "hgnc_date_symbol_changed": "2003-12-04" }, "entity_type": "gene", "entity_name": "FKRP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26833294", "30461124", "24139536", "20236121", "15833426" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2398", "gene_name": "crystallin beta B2", "omim_gene": [ "123620" ], "alias_name": null, "gene_symbol": "CRYBB2", "hgnc_symbol": "CRYBB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:25615489-25627836", "ensembl_id": "ENSG00000244752" } }, "GRch38": { "90": { "location": "22:25219522-25231869", "ensembl_id": "ENSG00000244752" } } }, "hgnc_date_symbol_changed": "1991-06-28" }, "entity_type": "gene", "entity_name": "CRYBB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9158139", "10634616", "11424921", "17234267" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Cataract 3, multiple types, MIM# 601547" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ASXH2", "FLJ10898", "KIAA1685" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23805", "gene_name": "additional sex combs like 2, transcriptional regulator", "omim_gene": [ "612991" ], "alias_name": null, "gene_symbol": "ASXL2", "hgnc_symbol": "ASXL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:25956622-26101385", "ensembl_id": "ENSG00000143970" } }, "GRch38": { "90": { "location": "2:25733753-25878516", "ensembl_id": "ENSG00000143970" } } }, "hgnc_date_symbol_changed": "2003-12-11" }, "entity_type": "gene", "entity_name": "ASXL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27693232", "33751773" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Shashi-Pena syndrome, MIM# 617190" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3763, "hash_id": null, "name": "Fetal anomalies", "disease_group": "", "disease_sub_group": "", "description": "The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.", "status": "public", "version": "1.558", "version_created": "2026-04-07T13:44:14.990434+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 2206, "number_of_strs": 3, "number_of_regions": 6 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZNRP", "BOV-1A", "BOV-1B", "BOV-1C", "RBM8B", "Y14" ], "biotype": null, "hgnc_id": "HGNC:9905", "gene_name": "RNA binding motif protein 8A", "omim_gene": [ "605313" ], "alias_name": null, "gene_symbol": "RBM8A", "hgnc_symbol": "RBM8A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:145507598-145513536", "ensembl_id": "ENSG00000131795" } }, "GRch38": { "90": { "location": "1:145917714-145927678", "ensembl_id": "ENSG00000265241" } } }, "hgnc_date_symbol_changed": "1999-05-05" }, "entity_type": "gene", "entity_name": "RBM8A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "IBMDx Study", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Thrombocytopenia-absent radius syndrome, MIM# 274000" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3829, "hash_id": null, "name": "IBMDx study", "disease_group": "", "disease_sub_group": "", "description": "The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2, BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.", "status": "public", "version": "0.42", "version_created": "2026-03-19T18:45:41.236506+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 101, "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": "Research", "slug": "research", "description": "Research panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CL640", "FLJ26072" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25223", "gene_name": "coenzyme Q2, polyprenyltransferase", "omim_gene": [ "609825" ], "alias_name": [ "4-hydroxybenzoate polyprenyltransferase" ], "gene_symbol": "COQ2", "hgnc_symbol": "COQ2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:84182689-84206067", "ensembl_id": "ENSG00000173085" } }, "GRch38": { "90": { "location": "4:83261536-83284914", "ensembl_id": "ENSG00000173085" } } }, "hgnc_date_symbol_changed": "2005-07-05" }, "entity_type": "gene", "entity_name": "COQ2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16400613", "17855635", "17332895" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 1, 607426 (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": [ "PDC-E2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2896", "gene_name": "dihydrolipoamide S-acetyltransferase", "omim_gene": [ "608770" ], "alias_name": [ "E2 component of pyruvate dehydrogenase complex" ], "gene_symbol": "DLAT", "hgnc_symbol": "DLAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:111895538-111935114", "ensembl_id": "ENSG00000150768" } }, "GRch38": { "90": { "location": "11:112024814-112064390", "ensembl_id": "ENSG00000150768" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "DLAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Pyruvate dehydrogenase E2 deficiency, MIM#\t245348" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "metabolic" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PRO1557", "PRO2086" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11740", "gene_name": "transferrin", "omim_gene": [ "190000" ], "alias_name": null, "gene_symbol": "TF", "hgnc_symbol": "TF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:133464800-133497850", "ensembl_id": "ENSG00000091513" } }, "GRch38": { "90": { "location": "3:133745956-133779006", "ensembl_id": "ENSG00000091513" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32028041, PMID: 19579082, PMID: 11110675" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Atransferrinemia MIM#209300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "haematological" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SLRR2D" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6724", "gene_name": "lumican", "omim_gene": [ "600616" ], "alias_name": [ "lumican proteoglycan" ], "gene_symbol": "LUM", "hgnc_symbol": "LUM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:91496406-91505608", "ensembl_id": "ENSG00000139329" } }, "GRch38": { "90": { "location": "12:91102629-91111831", "ensembl_id": "ENSG00000139329" } } }, "hgnc_date_symbol_changed": "1994-12-19" }, "entity_type": "gene", "entity_name": "LUM", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Amyotrophic lateral sclerosis" ], "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:4422", "gene_name": "glucosamine (N-acetyl)-6-sulfatase", "omim_gene": [ "607664" ], "alias_name": [ "Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase" ], "gene_symbol": "GNS", "hgnc_symbol": "GNS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:65107225-65153227", "ensembl_id": "ENSG00000135677" } }, "GRch38": { "90": { "location": "12:64713445-64759447", "ensembl_id": "ENSG00000135677" } } }, "hgnc_date_symbol_changed": "1988-06-09" }, "entity_type": "gene", "entity_name": "GNS", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31536183" ], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Mucopolysaccharidosis type IIID, MIM#\t252940" ], "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:144", "gene_name": "actin gamma 1", "omim_gene": [ "102560" ], "alias_name": null, "gene_symbol": "ACTG1", "hgnc_symbol": "ACTG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:79476997-79490873", "ensembl_id": "ENSG00000184009" } }, "GRch38": { "90": { "location": "17:81509971-81523847", "ensembl_id": "ENSG00000184009" } } }, "hgnc_date_symbol_changed": "1988-06-27" }, "entity_type": "gene", "entity_name": "ACTG1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "Baraitser-Winter syndrome 2MIM#614583", "Deafness, autosomal dominant 20/26 MIM#604717" ], "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:14544", "gene_name": "WNK lysine deficient protein kinase 4", "omim_gene": [ "601844" ], "alias_name": null, "gene_symbol": "WNK4", "hgnc_symbol": "WNK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40932696-40948954", "ensembl_id": "ENSG00000126562" } }, "GRch38": { "90": { "location": "17:42780678-42796936", "ensembl_id": "ENSG00000126562" } } }, "hgnc_date_symbol_changed": "2005-01-19" }, "entity_type": "gene", "entity_name": "WNK4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31044551", "22266938" ], "evidence": [ "Expert Review Green", "KidGen_AldoHypertension v38.1.0", "Expert Review Green", "KidGen_AldoHypertension v38.1.0" ], "phenotypes": [ "Pseudohypoaldosteronism, type IIB, MIM# 614491" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3993, "hash_id": null, "name": "Renal Tubulopathies and related disorders", "disease_group": "Renal and urinary tract disorders", "disease_sub_group": "", "description": "This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.", "status": "public", "version": "1.26", "version_created": "2026-03-30T10:01:51.458813+11:00", "relevant_disorders": [ "Renal tubular dysfunction", "HP:0000124; Nephrolithiasis", "HP:0000787; Abnormal circulating aldosterone", "HP:0040085" ], "stats": { "number_of_genes": 134, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "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." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6595", "gene_name": "LIM homeobox 3", "omim_gene": [ "600577" ], "alias_name": null, "gene_symbol": "LHX3", "hgnc_symbol": "LHX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139088096-139096955", "ensembl_id": "ENSG00000107187" } }, "GRch38": { "90": { "location": "9:136196250-136205109", "ensembl_id": "ENSG00000107187" } } }, "hgnc_date_symbol_changed": "2000-03-22" }, "entity_type": "gene", "entity_name": "LHX3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30759489" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Pituitary hormone deficiency, combined, 3 (MIM# 221750)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ13094", "FLJ34211", "PR46b", "CILD17" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32700", "gene_name": "coiled-coil domain containing 103", "omim_gene": [ "614677" ], "alias_name": null, "gene_symbol": "CCDC103", "hgnc_symbol": "CCDC103", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42976510-42982758", "ensembl_id": "ENSG00000167131" } }, "GRch38": { "90": { "location": "17:44899142-44905390", "ensembl_id": "ENSG00000167131" } } }, "hgnc_date_symbol_changed": "2006-04-25" }, "entity_type": "gene", "entity_name": "CCDC103", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22581229", "32447765", "31858719", "28790179" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Primary ciliary dyskinesia-17, MIM # 614679" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PCB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8636", "gene_name": "pyruvate carboxylase", "omim_gene": [ "608786" ], "alias_name": null, "gene_symbol": "PC", "hgnc_symbol": "PC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:66615704-66725847", "ensembl_id": "ENSG00000173599" } }, "GRch38": { "90": { "location": "11:66848233-66958376", "ensembl_id": "ENSG00000173599" } } }, "hgnc_date_symbol_changed": "1991-09-13" }, "entity_type": "gene", "entity_name": "PC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9585612", "12112657", "20301764" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Pyruvate carboxylase deficiency (MIM#266150)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4225, "hash_id": null, "name": "Prepair 500+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.0", "version_created": "2025-05-30T02:52:12.758302+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 629, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "VKCFD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4247", "gene_name": "gamma-glutamyl carboxylase", "omim_gene": [ "137167" ], "alias_name": [ "vitamin K-dependent gamma-carboxylase" ], "gene_symbol": "GGCX", "hgnc_symbol": "GGCX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:85771846-85788670", "ensembl_id": "ENSG00000115486" } }, "GRch38": { "90": { "location": "2:85544723-85561547", "ensembl_id": "ENSG00000115486" } } }, "hgnc_date_symbol_changed": "1994-07-04" }, "entity_type": "gene", "entity_name": "GGCX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32785662, 30531603, 26758921" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010187", "Other disorders of vitamin metabolism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4257, "hash_id": null, "name": "Vitamin metabolism disorders", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.7", "version_created": "2024-09-18T09:35:00.495806+10:00", "relevant_disorders": [ "Abnormality of vitamin metabolism", "HP:0100508" ], "stats": { "number_of_genes": 62, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC14580", "MGC10851", "bcm948" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20768", "gene_name": "tubulin alpha 1c", "omim_gene": null, "alias_name": null, "gene_symbol": "TUBA1C", "hgnc_symbol": "TUBA1C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49582519-49667114", "ensembl_id": "ENSG00000167553" } }, "GRch38": { "90": { "location": "12:49188736-49274603", "ensembl_id": "ENSG00000167553" } } }, "hgnc_date_symbol_changed": "2007-02-12" }, "entity_type": "gene", "entity_name": "TUBA1C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39209701" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Oocyte/zygote/embryo maturation arrest 24, MIM# 621232" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.140", "version_created": "2026-04-06T10:51:58.181866+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 264, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ25974", "dJ382I10.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21405", "gene_name": "cilia and flagella associated protein 206", "omim_gene": null, "alias_name": null, "gene_symbol": "CFAP206", "hgnc_symbol": "CFAP206", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:88117701-88174183", "ensembl_id": "ENSG00000272514" } }, "GRch38": { "90": { "location": "6:87407983-87464465", "ensembl_id": "ENSG00000272514" } } }, "hgnc_date_symbol_changed": "2015-10-05" }, "entity_type": "gene", "entity_name": "CFAP206", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "34255152" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Spermatogenic failure 102, MIM# 621387" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.140", "version_created": "2026-04-06T10:51:58.181866+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 264, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZMYND7", "RP8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8762", "gene_name": "programmed cell death 2", "omim_gene": [ "600866" ], "alias_name": null, "gene_symbol": "PDCD2", "hgnc_symbol": "PDCD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:170884383-170893780", "ensembl_id": "ENSG00000071994" } }, "GRch38": { "90": { "location": "6:170575295-170584692", "ensembl_id": "ENSG00000071994" } } }, "hgnc_date_symbol_changed": "1995-01-03" }, "entity_type": "gene", "entity_name": "PDCD2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40208938" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Non-immune hydrops fetalis, MONDO:0009369", "Recurrent pregnancy loss susceptibility, MONDO:0000144" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.140", "version_created": "2026-04-06T10:51:58.181866+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 264, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20438", "gene_name": "ring finger protein 212B", "omim_gene": null, "alias_name": null, "gene_symbol": "RNF212B", "hgnc_symbol": "RNF212B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23654525-23742686", "ensembl_id": "ENSG00000215277" } }, "GRch38": { "90": { "location": "14:23185316-23273477", "ensembl_id": "ENSG00000215277" } } }, "hgnc_date_symbol_changed": "2014-06-05" }, "entity_type": "gene", "entity_name": "RNF212B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40259604", "37124137" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Infertility disorder, MONDO:0005047, RNF212B-related", "Female and male infertility with recurrent medically assisted reproduction (MAR) failures." ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4455, "hash_id": null, "name": "Infertility and Recurrent Pregnancy Loss", "disease_group": "", "disease_sub_group": "", "description": "Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.", "status": "public", "version": "1.140", "version_created": "2026-04-06T10:51:58.181866+10:00", "relevant_disorders": [], "stats": { "number_of_genes": 264, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null } ] }