Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=195
{ "count": 35558, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=196", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=194", "results": [ { "gene_data": { "alias": [ "FLJ22609" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26208", "gene_name": "NOP2/Sun RNA methyltransferase family member 3", "omim_gene": [ "617491" ], "alias_name": null, "gene_symbol": "NSUN3", "hgnc_symbol": "NSUN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:93781760-93847389", "ensembl_id": "ENSG00000178694" } }, "GRch38": { "90": { "location": "3:94062916-94128545", "ensembl_id": "ENSG00000178694" } } }, "hgnc_date_symbol_changed": "2004-08-25" }, "entity_type": "gene", "entity_name": "NSUN3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27356879", "32488845", "40465263" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 48, MIM# 619012" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSPC049", "SORF-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24997", "gene_name": "WD repeat domain 91", "omim_gene": [ "616303" ], "alias_name": null, "gene_symbol": "WDR91", "hgnc_symbol": "WDR91", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:134868590-134896316", "ensembl_id": "ENSG00000105875" } }, "GRch38": { "90": { "location": "7:135183839-135211534", "ensembl_id": "ENSG00000105875" } } }, "hgnc_date_symbol_changed": "2007-06-18" }, "entity_type": "gene", "entity_name": "WDR91", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32732226", "38041506", "34791078", "40550703", "28860274", "34028500", "ClinVar: SCV000965687.1" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Complex neurodevelopmental disorder MONDO:0100038" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hTid-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11808", "gene_name": "DnaJ heat shock protein family (Hsp40) member A3", "omim_gene": [ "608382" ], "alias_name": null, "gene_symbol": "DNAJA3", "hgnc_symbol": "DNAJA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:4475806-4506776", "ensembl_id": "ENSG00000103423" } }, "GRch38": { "90": { "location": "16:4425805-4456775", "ensembl_id": "ENSG00000103423" } } }, "hgnc_date_symbol_changed": "1999-01-29" }, "entity_type": "gene", "entity_name": "DNAJA3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34750646", "30770860" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Mitochondrial disease, MONDO:0044970, DNAJA3-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NCoA-62", "SKIP", "Prp45", "PRPF45", "Bx42", "SKIP1", "FUN20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16696", "gene_name": "SNW domain containing 1", "omim_gene": [ "603055" ], "alias_name": null, "gene_symbol": "SNW1", "hgnc_symbol": "SNW1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:78183942-78227550", "ensembl_id": "ENSG00000100603" } }, "GRch38": { "90": { "location": "14:77717599-77761207", "ensembl_id": "ENSG00000100603" } } }, "hgnc_date_symbol_changed": "2005-09-13" }, "entity_type": "gene", "entity_name": "SNW1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40608414" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO:0700092), SNW1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TRNS1" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7497", "gene_name": "mitochondrially encoded tRNA serine 1 (UCN)", "omim_gene": [ "590080" ], "alias_name": null, "gene_symbol": "MT-TS1", "hgnc_symbol": "MT-TS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:7446-7514", "ensembl_id": "ENSG00000210151" } }, "GRch38": { "90": { "location": "MT:7446-7514", "ensembl_id": "ENSG00000210151" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "7669057", "9778262", "14605505", "23696415", "33279600", "7581383" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TS1-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:18860", "gene_name": "N-acylsphingosine amidohydrolase 2", "omim_gene": [ "611202" ], "alias_name": [ "neutral ceramidase", "non-lysosomal ceramidase" ], "gene_symbol": "ASAH2", "hgnc_symbol": "ASAH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:51942538-52008370", "ensembl_id": "ENSG00000188611" } }, "GRch38": { "90": { "location": "10:50182778-50248610", "ensembl_id": "ENSG00000188611" } } }, "hgnc_date_symbol_changed": "2002-07-05" }, "entity_type": "gene", "entity_name": "ASAH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41808410" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "XPO3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12826", "gene_name": "exportin for tRNA", "omim_gene": [ "603180" ], "alias_name": null, "gene_symbol": "XPOT", "hgnc_symbol": "XPOT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:64798130-64844907", "ensembl_id": "ENSG00000184575" } }, "GRch38": { "90": { "location": "12:64404350-64451127", "ensembl_id": "ENSG00000184575" } } }, "hgnc_date_symbol_changed": "1999-09-28" }, "entity_type": "gene", "entity_name": "XPOT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10.64898/2026.01.28.26344748" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Syndromic disease, MONDO:0002254" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "preprint" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BAP2", "IRSp53" ], "biotype": "protein_coding", "hgnc_id": "HGNC:947", "gene_name": "BAI1 associated protein 2", "omim_gene": [ "605475" ], "alias_name": [ "insulin receptor substrate of 53 kDa" ], "gene_symbol": "BAIAP2", "hgnc_symbol": "BAIAP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:79008948-79091232", "ensembl_id": "ENSG00000175866" } }, "GRch38": { "90": { "location": "17:81035122-81117432", "ensembl_id": "ENSG00000175866" } } }, "hgnc_date_symbol_changed": "1999-02-26" }, "entity_type": "gene", "entity_name": "BAIAP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41133935", "38149472" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 120, MIM# 621468" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Munc13-3", "DKFZp547H074" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23149", "gene_name": "unc-13 homolog C", "omim_gene": [ "614568" ], "alias_name": null, "gene_symbol": "UNC13C", "hgnc_symbol": "UNC13C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:54305101-54920806", "ensembl_id": "ENSG00000137766" } }, "GRch38": { "90": { "location": "15:54012904-54633414", "ensembl_id": "ENSG00000137766" } } }, "hgnc_date_symbol_changed": "2003-10-16" }, "entity_type": "gene", "entity_name": "UNC13C", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41399760" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4185", "gene_name": "gastrulation brain homeobox 1", "omim_gene": [ "603354" ], "alias_name": null, "gene_symbol": "GBX1", "hgnc_symbol": "GBX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:150845676-150871832", "ensembl_id": "ENSG00000164900" } }, "GRch38": { "90": { "location": "7:151148589-151174745", "ensembl_id": "ENSG00000164900" } } }, "hgnc_date_symbol_changed": "1997-10-30" }, "entity_type": "gene", "entity_name": "GBX1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40519143" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, GBX1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10262" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22931", "gene_name": "kelch like family member 13", "omim_gene": [ "300655" ], "alias_name": null, "gene_symbol": "KLHL13", "hgnc_symbol": "KLHL13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:117031776-117251303", "ensembl_id": "ENSG00000003096" } }, "GRch38": { "90": { "location": "X:117897813-118117340", "ensembl_id": "ENSG00000003096" } } }, "hgnc_date_symbol_changed": "2004-02-18" }, "entity_type": "gene", "entity_name": "KLHL13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 41159445" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, KLHL13-related" ], "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": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HNRPE1", "hnRNP-E1", "HNRPX", "hnRNP-X" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8647", "gene_name": "poly(rC) binding protein 1", "omim_gene": [ "601209" ], "alias_name": [ "heterogeneous nuclear ribonucleoprotein E1" ], "gene_symbol": "PCBP1", "hgnc_symbol": "PCBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:70314585-70316332", "ensembl_id": "ENSG00000169564" } }, "GRch38": { "90": { "location": "2:70087454-70089203", "ensembl_id": "ENSG00000169564" } } }, "hgnc_date_symbol_changed": "1996-06-07" }, "entity_type": "gene", "entity_name": "PCBP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41415500" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, PCBP1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "EST140535", "Atm1p", "ASAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:48", "gene_name": "ATP binding cassette subfamily B member 7", "omim_gene": [ "300135" ], "alias_name": null, "gene_symbol": "ABCB7", "hgnc_symbol": "ABCB7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:74273115-74376567", "ensembl_id": "ENSG00000131269" } }, "GRch38": { "90": { "location": "X:75053172-75156732", "ensembl_id": "ENSG00000131269" } } }, "hgnc_date_symbol_changed": "1997-09-12" }, "entity_type": "gene", "entity_name": "ABCB7", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11050011", "26242992" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Anaemia, sideroblastic, with ataxia, MIM# 301310" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "humS6PKh1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10439", "gene_name": "ribosomal protein S6 kinase C1", "omim_gene": [ "617517" ], "alias_name": null, "gene_symbol": "RPS6KC1", "hgnc_symbol": "RPS6KC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:213224589-213448116", "ensembl_id": "ENSG00000136643" } }, "GRch38": { "90": { "location": "1:213051233-213274773", "ensembl_id": "ENSG00000136643" } } }, "hgnc_date_symbol_changed": "1999-12-14" }, "entity_type": "gene", "entity_name": "RPS6KC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41130203" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IB1099", "ETL1", "EPITEMPIN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6572", "gene_name": "leucine rich glioma inactivated 1", "omim_gene": [ "604619" ], "alias_name": null, "gene_symbol": "LGI1", "hgnc_symbol": "LGI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:95517566-95557916", "ensembl_id": "ENSG00000108231" } }, "GRch38": { "90": { "location": "10:93757809-93806272", "ensembl_id": "ENSG00000108231" } } }, "hgnc_date_symbol_changed": "1998-09-25" }, "entity_type": "gene", "entity_name": "LGI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID:40455867" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 121, MIM# 621475" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CAGH32", "KIAA1498", "P400", "KIAA1818", "DKFZP434I225" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11958", "gene_name": "E1A binding protein p400", "omim_gene": [ "606265" ], "alias_name": null, "gene_symbol": "EP400", "hgnc_symbol": "EP400", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:132434508-132565005", "ensembl_id": "ENSG00000183495" } }, "GRch38": { "90": { "location": "12:131949920-132081102", "ensembl_id": "ENSG00000183495" } } }, "hgnc_date_symbol_changed": "2002-02-08" }, "entity_type": "gene", "entity_name": "EP400", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39708813" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AD158" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25075", "gene_name": "leucine rich repeat containing 8 VRAC subunit C", "omim_gene": [ "612889" ], "alias_name": [ "hypothetical protein AD158" ], "gene_symbol": "LRRC8C", "hgnc_symbol": "LRRC8C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:90098631-90235462", "ensembl_id": "ENSG00000171488" } }, "GRch38": { "90": { "location": "1:89633072-89769903", "ensembl_id": "ENSG00000171488" } } }, "hgnc_date_symbol_changed": "2005-06-29" }, "entity_type": "gene", "entity_name": "LRRC8C", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "39623139" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "TIMES syndrome MIM#621056" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp686F2227", "MGC26733" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28385", "gene_name": "von Willebrand factor A domain containing 3B", "omim_gene": [ "614884" ], "alias_name": null, "gene_symbol": "VWA3B", "hgnc_symbol": "VWA3B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:98703579-98929762", "ensembl_id": "ENSG00000168658" } }, "GRch38": { "90": { "location": "2:98087116-98313299", "ensembl_id": "ENSG00000168658" } } }, "hgnc_date_symbol_changed": "2007-08-14" }, "entity_type": "gene", "entity_name": "VWA3B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26157035", "41673450", "37772257" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 22 MIM#616948" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSPC109", "CENP-32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26933", "gene_name": "SPOUT domain containing methyltransferase 1", "omim_gene": [ "617614" ], "alias_name": [ "centromere protein 32" ], "gene_symbol": "SPOUT1", "hgnc_symbol": "SPOUT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131581930-131592100", "ensembl_id": "ENSG00000198917" } }, "GRch38": { "90": { "location": "9:128819651-128829821", "ensembl_id": "ENSG00000198917" } } }, "hgnc_date_symbol_changed": "2016-06-30" }, "entity_type": "gene", "entity_name": "SPOUT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39962046" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, MIM# 621154" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CHL12", "C321D2.4", "Ctf18" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18435", "gene_name": "chromosome transmission fidelity factor 18", "omim_gene": [ "613201" ], "alias_name": null, "gene_symbol": "CHTF18", "hgnc_symbol": "CHTF18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:838046-850737", "ensembl_id": "ENSG00000127586" } }, "GRch38": { "90": { "location": "16:788046-800737", "ensembl_id": "ENSG00000127586" } } }, "hgnc_date_symbol_changed": "2003-04-04" }, "entity_type": "gene", "entity_name": "CHTF18", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40717333" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO#0700092, CHTF18-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "D6S81E", "UAP56" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13917", "gene_name": "DExD-box helicase 39B", "omim_gene": [ "142560" ], "alias_name": [ "U2AF65-associated protein 56" ], "gene_symbol": "DDX39B", "hgnc_symbol": "DDX39B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31497996-31510225", "ensembl_id": "ENSG00000198563" } }, "GRch38": { "90": { "location": "6:31530219-31542448", "ensembl_id": "ENSG00000198563" } } }, "hgnc_date_symbol_changed": "2011-02-08" }, "entity_type": "gene", "entity_name": "DDX39B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39918047" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, DDX39B-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CGI-12", "FLJ10939" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24258", "gene_name": "mitochondrial transcription termination factor 3", "omim_gene": [ "616930" ], "alias_name": null, "gene_symbol": "MTERF3", "hgnc_symbol": "MTERF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:97251626-97273838", "ensembl_id": "ENSG00000156469" } }, "GRch38": { "90": { "location": "8:96239398-96261610", "ensembl_id": "ENSG00000156469" } } }, "hgnc_date_symbol_changed": "2014-06-26" }, "entity_type": "gene", "entity_name": "MTERF3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40543543" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MTERF3-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC39830", "AVO3", "PIA", "KIAA1999" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28611", "gene_name": "RPTOR independent companion of MTOR complex 2", "omim_gene": [ "609022" ], "alias_name": [ "rapamycin-insensitive companion of mTOR", "pianissimo" ], "gene_symbol": "RICTOR", "hgnc_symbol": "RICTOR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:38938021-39074510", "ensembl_id": "ENSG00000164327" } }, "GRch38": { "90": { "location": "5:38937919-39074408", "ensembl_id": "ENSG00000164327" } } }, "hgnc_date_symbol_changed": "2009-05-29" }, "entity_type": "gene", "entity_name": "RICTOR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39738822" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, RICTOR-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DD5", "HYD", "EDD", "KIAA0896" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16806", "gene_name": "ubiquitin protein ligase E3 component n-recognin 5", "omim_gene": [ "608413" ], "alias_name": null, "gene_symbol": "UBR5", "hgnc_symbol": "UBR5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:103265240-103425069", "ensembl_id": "ENSG00000104517" } }, "GRch38": { "90": { "location": "8:102253012-102412841", "ensembl_id": "ENSG00000104517" } } }, "hgnc_date_symbol_changed": "2007-06-19" }, "entity_type": "gene", "entity_name": "UBR5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39721588" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with speech delay and behavioral abnormalities, MIM# 621372" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "B9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7686", "gene_name": "NADH:ubiquinone oxidoreductase subunit A3", "omim_gene": [ "603832" ], "alias_name": [ "complex I B9 subunit" ], "gene_symbol": "NDUFA3", "hgnc_symbol": "NDUFA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:54606036-54612564", "ensembl_id": "ENSG00000170906" } }, "GRch38": { "90": { "location": "19:54102728-54109257", "ensembl_id": "ENSG00000170906" } } }, "hgnc_date_symbol_changed": "1996-08-30" }, "entity_type": "gene", "entity_name": "NDUFA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41038977", "39661167" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Mitochondrial disease, MONDO:0044970,NDUFA3-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3772", "gene_name": "flavin containing monooxygenase 4", "omim_gene": [ "136131" ], "alias_name": null, "gene_symbol": "FMO4", "hgnc_symbol": "FMO4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:171283347-171311223", "ensembl_id": "ENSG00000076258" } }, "GRch38": { "90": { "location": "1:171314208-171342084", "ensembl_id": "ENSG00000076258" } } }, "hgnc_date_symbol_changed": "1991-08-01" }, "entity_type": "gene", "entity_name": "FMO4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41714691, 28940097" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092", "FMO4 related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0648", "PIG54", "SCC-112" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29088", "gene_name": "PDS5 cohesin associated factor A", "omim_gene": [ "613200" ], "alias_name": null, "gene_symbol": "PDS5A", "hgnc_symbol": "PDS5A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:39824483-39979576", "ensembl_id": "ENSG00000121892" } }, "GRch38": { "90": { "location": "4:39822863-39977956", "ensembl_id": "ENSG00000121892" } } }, "hgnc_date_symbol_changed": "2007-06-20" }, "entity_type": "gene", "entity_name": "PDS5A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10.64898/2026.02.23.26346364", "30158690" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Complex neurodevelopmental disorder, MONDO:0100038" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "preprint" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AS3", "KIAA0979", "FLJ23236", "CG008" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20418", "gene_name": "PDS5 cohesin associated factor B", "omim_gene": [ "605333" ], "alias_name": null, "gene_symbol": "PDS5B", "hgnc_symbol": "PDS5B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:33160564-33352157", "ensembl_id": "ENSG00000083642" } }, "GRch38": { "90": { "location": "13:32586427-32778019", "ensembl_id": "ENSG00000083642" } } }, "hgnc_date_symbol_changed": "2007-07-18" }, "entity_type": "gene", "entity_name": "PDS5B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10.64898/2026.02.23.26346364" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "preprint" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2158", "gene_name": "2',3'-cyclic nucleotide 3' phosphodiesterase", "omim_gene": [ "123830" ], "alias_name": null, "gene_symbol": "CNP", "hgnc_symbol": "CNP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40118759-40129749", "ensembl_id": "ENSG00000173786" } }, "GRch38": { "90": { "location": "17:41966741-41977731", "ensembl_id": "ENSG00000173786" } } }, "hgnc_date_symbol_changed": "1991-07-15" }, "entity_type": "gene", "entity_name": "CNP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32128616", "12590258", "40396300" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 20, MIM# 619071" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PURL", "FGARAT", "KIAA0361", "GATD8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8863", "gene_name": "phosphoribosylformylglycinamidine synthase", "omim_gene": [ "602133" ], "alias_name": [ "FGAR amidotransferase" ], "gene_symbol": "PFAS", "hgnc_symbol": "PFAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:8150936-8173809", "ensembl_id": "ENSG00000178921" } }, "GRch38": { "90": { "location": "17:8247618-8270491", "ensembl_id": "ENSG00000178921" } } }, "hgnc_date_symbol_changed": "1998-01-16" }, "entity_type": "gene", "entity_name": "PFAS", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40421664" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Inborn error of metabolism, MONDO:0019052, PFAS-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PM-Scl", "PM/Scl-100", "Rrp6p", "RRP6", "p2", "p3", "p4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9138", "gene_name": "exosome component 10", "omim_gene": [ "605960" ], "alias_name": [ "polymyositis/scleroderma autoantigen 2 (100kD)" ], "gene_symbol": "EXOSC10", "hgnc_symbol": "EXOSC10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:11126675-11159938", "ensembl_id": "ENSG00000171824" } }, "GRch38": { "90": { "location": "1:11066618-11099881", "ensembl_id": "ENSG00000171824" } } }, "hgnc_date_symbol_changed": "2004-06-18" }, "entity_type": "gene", "entity_name": "EXOSC10", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41132091" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Microcephaly, MONDO:0001149, EXOSC10-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MLRQ", "CI-9k" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7687", "gene_name": "NDUFA4, mitochondrial complex associated", "omim_gene": [ "603833" ], "alias_name": [ "complex I 9kDa subunit", "NADH-ubiquinone oxidoreductase MLRQ subunit" ], "gene_symbol": "NDUFA4", "hgnc_symbol": "NDUFA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:10971578-10979883", "ensembl_id": "ENSG00000189043" } }, "GRch38": { "90": { "location": "7:10931951-10940256", "ensembl_id": "ENSG00000189043" } } }, "hgnc_date_symbol_changed": "1996-08-30" }, "entity_type": "gene", "entity_name": "NDUFA4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39967265" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "YEAF1", "AAP1", "DEDAF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10480", "gene_name": "RING1 and YY1 binding protein", "omim_gene": [ "607535" ], "alias_name": [ "YY1 and E4TF1 associated factor 1", "ring1 interactor RYBP", "apoptin-associating protein 1", "death effector domain-associated factor" ], "gene_symbol": "RYBP", "hgnc_symbol": "RYBP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:72420976-72496069", "ensembl_id": "ENSG00000163602" } }, "GRch38": { "90": { "location": "3:72371825-72446621", "ensembl_id": "ENSG00000163602" } } }, "hgnc_date_symbol_changed": "2000-01-28" }, "entity_type": "gene", "entity_name": "RYBP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39891528" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, RYBP-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14015", "gene_name": "CUGBP Elav-like family member 4", "omim_gene": [ "612679" ], "alias_name": null, "gene_symbol": "CELF4", "hgnc_symbol": "CELF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:34823010-35146000", "ensembl_id": "ENSG00000101489" } }, "GRch38": { "90": { "location": "18:37243047-37566037", "ensembl_id": "ENSG00000101489" } } }, "hgnc_date_symbol_changed": "2010-02-19" }, "entity_type": "gene", "entity_name": "CELF4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40108438" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, CELF4-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1360", "CVAK104" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19286", "gene_name": "SCY1 like pseudokinase 2", "omim_gene": [ "616365" ], "alias_name": [ "coated vesicle-associated kinase of 104 kDa" ], "gene_symbol": "SCYL2", "hgnc_symbol": "SCYL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:100660918-100735502", "ensembl_id": "ENSG00000136021" } }, "GRch38": { "90": { "location": "12:100267140-100341724", "ensembl_id": "ENSG00000136021" } } }, "hgnc_date_symbol_changed": "2005-01-20" }, "entity_type": "gene", "entity_name": "SCYL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31960134", "26203146", "40243816", "39169672" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CD51" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6150", "gene_name": "integrin subunit alpha V", "omim_gene": [ "193210" ], "alias_name": null, "gene_symbol": "ITGAV", "hgnc_symbol": "ITGAV", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:187454792-187545628", "ensembl_id": "ENSG00000138448" } }, "GRch38": { "90": { "location": "2:186590065-186680901", "ensembl_id": "ENSG00000138448" } } }, "hgnc_date_symbol_changed": "1988-07-19" }, "entity_type": "gene", "entity_name": "ITGAV", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39526957" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ATP5A", "hATP1", "OMR", "ORM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:823", "gene_name": "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle", "omim_gene": [ "164360" ], "alias_name": null, "gene_symbol": "ATP5A1", "hgnc_symbol": "ATP5A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:43664110-43684300", "ensembl_id": "ENSG00000152234" } }, "GRch38": { "90": { "location": "18:46080248-46104334", "ensembl_id": "ENSG00000152234" } } }, "hgnc_date_symbol_changed": "1993-02-25" }, "entity_type": "gene", "entity_name": "ATP5A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34483339", "34954817", "40859057" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358), AD" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "new gene name" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDR", "ETO", "MTG8", "ZMYND2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1535", "gene_name": "RUNX1 translocation partner 1", "omim_gene": [ "133435" ], "alias_name": null, "gene_symbol": "RUNX1T1", "hgnc_symbol": "RUNX1T1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:92967203-93115514", "ensembl_id": "ENSG00000079102" } }, "GRch38": { "90": { "location": "8:91954967-92103286", "ensembl_id": "ENSG00000079102" } } }, "hgnc_date_symbol_changed": "2005-01-22" }, "entity_type": "gene", "entity_name": "RUNX1T1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39568205", "19172993", "22644616", "31223340" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, RUNX1T1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HUGT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15663", "gene_name": "UDP-glucose glycoprotein glucosyltransferase 1", "omim_gene": [ "605897" ], "alias_name": null, "gene_symbol": "UGGT1", "hgnc_symbol": "UGGT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:128848774-128953251", "ensembl_id": "ENSG00000136731" } }, "GRch38": { "90": { "location": "2:128091200-128195677", "ensembl_id": "ENSG00000136731" } } }, "hgnc_date_symbol_changed": "2009-07-23" }, "entity_type": "gene", "entity_name": "UGGT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40267907" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation, type IICC, MIM# 621381" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PLIP", "DUSP23", "MOSP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26965", "gene_name": "protein tyrosine phosphatase, mitochondrial 1", "omim_gene": [ "609538" ], "alias_name": null, "gene_symbol": "PTPMT1", "hgnc_symbol": "PTPMT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47586982-47595013", "ensembl_id": "ENSG00000110536" } }, "GRch38": { "90": { "location": "11:47565430-47573461", "ensembl_id": "ENSG00000110536" } } }, "hgnc_date_symbol_changed": "2005-03-15" }, "entity_type": "gene", "entity_name": "PTPMT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39279645", "37672386" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DRP-1", "DPYSL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2365", "gene_name": "collapsin response mediator protein 1", "omim_gene": [ "602462" ], "alias_name": null, "gene_symbol": "CRMP1", "hgnc_symbol": "CRMP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:5749811-5894785", "ensembl_id": "ENSG00000072832" } }, "GRch38": { "90": { "location": "4:5748084-5893058", "ensembl_id": "ENSG00000072832" } } }, "hgnc_date_symbol_changed": "1997-01-16" }, "entity_type": "gene", "entity_name": "CRMP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36511780", "39758889" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "neurodevelopmental disorder, MONDO:0700092, CRMP1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2551", "gene_name": "cullin 1", "omim_gene": [ "603134" ], "alias_name": null, "gene_symbol": "CUL1", "hgnc_symbol": "CUL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:148395006-148498128", "ensembl_id": "ENSG00000055130" } }, "GRch38": { "90": { "location": "7:148697914-148801036", "ensembl_id": "ENSG00000055130" } } }, "hgnc_date_symbol_changed": "1998-10-29" }, "entity_type": "gene", "entity_name": "CUL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 41189326" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, CUL1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSPC166", "FLJ31106" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25014", "gene_name": "COMM domain containing 9", "omim_gene": [ "612299" ], "alias_name": null, "gene_symbol": "COMMD9", "hgnc_symbol": "COMMD9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:36295051-36310999", "ensembl_id": "ENSG00000110442" } }, "GRch38": { "90": { "location": "11:36269284-36289449", "ensembl_id": "ENSG00000110442" } } }, "hgnc_date_symbol_changed": "2004-02-13" }, "entity_type": "gene", "entity_name": "COMMD9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40601774" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, COMMD9-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "COX4-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2265", "gene_name": "cytochrome c oxidase subunit 4I1", "omim_gene": [ "123864" ], "alias_name": null, "gene_symbol": "COX4I1", "hgnc_symbol": "COX4I1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:85832239-85840650", "ensembl_id": "ENSG00000131143" } }, "GRch38": { "90": { "location": "16:85798633-85807044", "ensembl_id": "ENSG00000131143" } } }, "hgnc_date_symbol_changed": "2001-12-07" }, "entity_type": "gene", "entity_name": "COX4I1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28766551", "22592081", "31290619", "40095452", "41203052" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CG22", "CKAPI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1989", "gene_name": "tubulin folding cofactor B", "omim_gene": [ "601303" ], "alias_name": null, "gene_symbol": "TBCB", "hgnc_symbol": "TBCB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36605191-36616849", "ensembl_id": "ENSG00000105254" } }, "GRch38": { "90": { "location": "19:36114289-36125947", "ensembl_id": "ENSG00000105254" } } }, "hgnc_date_symbol_changed": "2006-11-22" }, "entity_type": "gene", "entity_name": "TBCB", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40856104" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3343", "gene_name": "engrailed homeobox 2", "omim_gene": [ "131310" ], "alias_name": null, "gene_symbol": "EN2", "hgnc_symbol": "EN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:155250824-155257526", "ensembl_id": "ENSG00000164778" } }, "GRch38": { "90": { "location": "7:155458129-155464831", "ensembl_id": "ENSG00000164778" } } }, "hgnc_date_symbol_changed": "1988-08-31" }, "entity_type": "gene", "entity_name": "EN2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Complex neurodevelopmental disorder, MONDO:0100038" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "eIF3k", "PRO1474", "HSPC029", "PTD001", "PLAC-24", "M9", "ARG134" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24656", "gene_name": "eukaryotic translation initiation factor 3 subunit K", "omim_gene": [ "609596" ], "alias_name": null, "gene_symbol": "EIF3K", "hgnc_symbol": "EIF3K", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:39109735-39127595", "ensembl_id": "ENSG00000178982" } }, "GRch38": { "90": { "location": "19:38619082-38636955", "ensembl_id": "ENSG00000178982" } } }, "hgnc_date_symbol_changed": "2007-07-27" }, "entity_type": "gene", "entity_name": "EIF3K", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40219605" ], "evidence": [ "Expert Review Amber", "Other" ], "phenotypes": [ "EIF3K-related neurodevelopmental disorder, MONDO:0700092" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TTCP20", "TCPZ", "Cctz", "HTR3", "TCP20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1620", "gene_name": "chaperonin containing TCP1 subunit 6A", "omim_gene": [ "104613" ], "alias_name": null, "gene_symbol": "CCT6A", "hgnc_symbol": "CCT6A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:56119323-56131682", "ensembl_id": "ENSG00000146731" } }, "GRch38": { "90": { "location": "7:56051630-56063989", "ensembl_id": "ENSG00000146731" } } }, "hgnc_date_symbol_changed": "1999-02-26" }, "entity_type": "gene", "entity_name": "CCT6A", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "39480921" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, CCT6A-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8729", "gene_name": "proliferating cell nuclear antigen", "omim_gene": [ "176740" ], "alias_name": null, "gene_symbol": "PCNA", "hgnc_symbol": "PCNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:5095599-5107272", "ensembl_id": "ENSG00000132646" } }, "GRch38": { "90": { "location": "20:5114953-5126626", "ensembl_id": "ENSG00000132646" } } }, "hgnc_date_symbol_changed": "1990-01-15" }, "entity_type": "gene", "entity_name": "PCNA", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24911150, 33426167, 36990216" ], "evidence": [ "Expert Review Amber", "ClinGen" ], "phenotypes": [ "hereditary ataxia MONDO:0100309" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PSK-J3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1773", "gene_name": "cyclin dependent kinase 4", "omim_gene": [ "123829" ], "alias_name": null, "gene_symbol": "CDK4", "hgnc_symbol": "CDK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:58141510-58149796", "ensembl_id": "ENSG00000135446" } }, "GRch38": { "90": { "location": "12:57747727-57756013", "ensembl_id": "ENSG00000135446" } } }, "hgnc_date_symbol_changed": "1993-07-28" }, "entity_type": "gene", "entity_name": "CDK4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "40210435" ], "evidence": [ "Expert Review Amber", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microcephaly 31, primary, autosomal recessive, MIM# 621507" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "D6S230E", "CCT1", "Ccta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11655", "gene_name": "t-complex 1", "omim_gene": [ "186980" ], "alias_name": null, "gene_symbol": "TCP1", "hgnc_symbol": "TCP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:160199530-160210781", "ensembl_id": "ENSG00000120438" } }, "GRch38": { "90": { "location": "6:159778498-159789749", "ensembl_id": "ENSG00000120438" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TCP1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "39480921" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Cctg" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1616", "gene_name": "chaperonin containing TCP1 subunit 3", "omim_gene": [ "600114" ], "alias_name": null, "gene_symbol": "CCT3", "hgnc_symbol": "CCT3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156278759-156337664", "ensembl_id": "ENSG00000163468" } }, "GRch38": { "90": { "location": "1:156308968-156367873", "ensembl_id": "ENSG00000163468" } } }, "hgnc_date_symbol_changed": "1999-02-26" }, "entity_type": "gene", "entity_name": "CCT3", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "39480921" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, CCT3-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC75361", "mau-2", "MAU2L", "SCC4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29140", "gene_name": "MAU2 sister chromatid cohesion factor", "omim_gene": [ "614560" ], "alias_name": [ "sister chromatid cohesion 4" ], "gene_symbol": "MAU2", "hgnc_symbol": "MAU2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:19431490-19469563", "ensembl_id": "ENSG00000129933" } }, "GRch38": { "90": { "location": "19:19320681-19358755", "ensembl_id": "ENSG00000129933" } } }, "hgnc_date_symbol_changed": "2013-08-28" }, "entity_type": "gene", "entity_name": "MAU2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41332805", "37962004", "32433956" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Cornelia de Lange syndrome 7, MIM# 621570" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0622", "MAST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17088", "gene_name": "cytoplasmic linker associated protein 1", "omim_gene": [ "605852" ], "alias_name": [ "multiple asters 1" ], "gene_symbol": "CLASP1", "hgnc_symbol": "CLASP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:122095352-122407163", "ensembl_id": "ENSG00000074054" } }, "GRch38": { "90": { "location": "2:121337776-121649587", "ensembl_id": "ENSG00000074054" } } }, "hgnc_date_symbol_changed": "2002-06-12" }, "entity_type": "gene", "entity_name": "CLASP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39040917" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, CLASP1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ20452" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26027", "gene_name": "COMM domain containing 4", "omim_gene": [ "616701" ], "alias_name": null, "gene_symbol": "COMMD4", "hgnc_symbol": "COMMD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:75628232-75634268", "ensembl_id": "ENSG00000140365" } }, "GRch38": { "90": { "location": "15:75335891-75343224", "ensembl_id": "ENSG00000140365" } } }, "hgnc_date_symbol_changed": "2004-02-13" }, "entity_type": "gene", "entity_name": "COMMD4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40601774" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Ritscher-Schinzel syndrome, MONDO:0019078, COMMD4-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HS5O6A", "DKFZP586A1024", "FM08" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1310", "gene_name": "transmembrane protein 184B", "omim_gene": null, "alias_name": null, "gene_symbol": "TMEM184B", "hgnc_symbol": "TMEM184B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:38615298-38669040", "ensembl_id": "ENSG00000198792" } }, "GRch38": { "90": { "location": "22:38219291-38273034", "ensembl_id": "ENSG00000198792" } } }, "hgnc_date_symbol_changed": "2007-07-11" }, "entity_type": "gene", "entity_name": "TMEM184B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39006436" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO:0700092), TMEM184B-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0518", "MAD5", "MXD5", "FLJ12634" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14010", "gene_name": "MGA, MAX dimerization protein", "omim_gene": [ "616061" ], "alias_name": null, "gene_symbol": "MGA", "hgnc_symbol": "MGA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:41913422-42062141", "ensembl_id": "ENSG00000174197" } }, "GRch38": { "90": { "location": "15:41621224-41773081", "ensembl_id": "ENSG00000174197" } } }, "hgnc_date_symbol_changed": "2002-11-11" }, "entity_type": "gene", "entity_name": "MGA", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39600096", "20044811" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Syndromic disease, MONDO:0002254, MGA-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "trnW" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7501", "gene_name": "mitochondrially encoded tRNA tryptophan", "omim_gene": [ "590095" ], "alias_name": null, "gene_symbol": "MT-TW", "hgnc_symbol": "MT-TW", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:5512-5579", "ensembl_id": "ENSG00000210117" } }, "GRch38": { "90": { "location": "MT:5512-5579", "ensembl_id": "ENSG00000210117" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TW", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "7695240", "9266739", "9673981", "12776230", "15054399", "18337306", "19809478", "26524491", "23841600", "30937556" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TW-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZP564F1123" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20218", "gene_name": "transmembrane protein 251", "omim_gene": null, "alias_name": null, "gene_symbol": "TMEM251", "hgnc_symbol": "TMEM251", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:93651296-93653434", "ensembl_id": "ENSG00000153485" } }, "GRch38": { "90": { "location": "14:93184951-93187089", "ensembl_id": "ENSG00000153485" } } }, "hgnc_date_symbol_changed": "2012-07-18" }, "entity_type": "gene", "entity_name": "TMEM251", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40171858", "33252156" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Dysostosis multiplex, Ain-Naz type MIM@619345" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9777", "gene_name": "RAB3A, member RAS oncogene family", "omim_gene": [ "179490" ], "alias_name": [ "RAS-associated protein RAB3A" ], "gene_symbol": "RAB3A", "hgnc_symbol": "RAB3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:18307594-18314884", "ensembl_id": "ENSG00000105649" } }, "GRch38": { "90": { "location": "19:18196784-18204074", "ensembl_id": "ENSG00000105649" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "RAB3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40166812" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ11052", "BRFU", "TFIIIB50" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17298", "gene_name": "BRF2, RNA polymerase III transcription initiation factor subunit", "omim_gene": [ "607013" ], "alias_name": null, "gene_symbol": "BRF2", "hgnc_symbol": "BRF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:37700786-37707422", "ensembl_id": "ENSG00000104221" } }, "GRch38": { "90": { "location": "8:37843268-37849904", "ensembl_id": "ENSG00000104221" } } }, "hgnc_date_symbol_changed": "2001-11-30" }, "entity_type": "gene", "entity_name": "BRF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40229899" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Syndromic disease, MONDO:0002254, BRF2-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TSBN51", "RPC4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1080", "gene_name": "RNA polymerase III subunit D", "omim_gene": [ "187280" ], "alias_name": null, "gene_symbol": "POLR3D", "hgnc_symbol": "POLR3D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:22102617-22112113", "ensembl_id": "ENSG00000168495" } }, "GRch38": { "90": { "location": "8:22245104-22254600", "ensembl_id": "ENSG00000168495" } } }, "hgnc_date_symbol_changed": "2003-04-04" }, "entity_type": "gene", "entity_name": "POLR3D", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37915380" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Leukodystrophy, MONDO:0019046, POLR3D-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PR55-BETA", "PR52B", "B55beta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9305", "gene_name": "protein phosphatase 2 regulatory subunit Bbeta", "omim_gene": [ "604325" ], "alias_name": [ "PP2A subunit B isoform beta" ], "gene_symbol": "PPP2R2B", "hgnc_symbol": "PPP2R2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:145967936-146464347", "ensembl_id": "ENSG00000156475" } }, "GRch38": { "90": { "location": "5:146581146-147084784", "ensembl_id": "ENSG00000156475" } } }, "hgnc_date_symbol_changed": "1993-01-25" }, "entity_type": "gene", "entity_name": "PPP2R2B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25356899", "39565297" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "B-50", "PP46" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4140", "gene_name": "growth associated protein 43", "omim_gene": [ "162060" ], "alias_name": [ "neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50" ], "gene_symbol": "GAP43", "hgnc_symbol": "GAP43", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:115342171-115440337", "ensembl_id": "ENSG00000172020" } }, "GRch38": { "90": { "location": "3:115623324-115721490", "ensembl_id": "ENSG00000172020" } } }, "hgnc_date_symbol_changed": "1990-07-10" }, "entity_type": "gene", "entity_name": "GAP43", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39738362" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "neurodevelopmental disorder, MONDO:0700092, GAP43-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:19133", "gene_name": "heparan sulfate 6-O-sulfotransferase 2", "omim_gene": [ "300545" ], "alias_name": null, "gene_symbol": "HS6ST2", "hgnc_symbol": "HS6ST2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:131760044-132095423", "ensembl_id": "ENSG00000171004" } }, "GRch38": { "90": { "location": "X:132626016-132961395", "ensembl_id": "ENSG00000171004" } } }, "hgnc_date_symbol_changed": "2002-08-19" }, "entity_type": "gene", "entity_name": "HS6ST2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40686562", "30471091", "36993824", "38015989" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "X-linked syndromic intellectual disability MONDO:0020119" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FBX22", "FISTC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13593", "gene_name": "F-box protein 22", "omim_gene": [ "609096" ], "alias_name": [ "FIST domain containing 1" ], "gene_symbol": "FBXO22", "hgnc_symbol": "FBXO22", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:76196200-76227609", "ensembl_id": "ENSG00000167196" } }, "GRch38": { "90": { "location": "15:75903859-75942510", "ensembl_id": "ENSG00000167196" } } }, "hgnc_date_symbol_changed": "2000-09-27" }, "entity_type": "gene", "entity_name": "FBXO22", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40215970" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, FBXO22-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "trnR" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7496", "gene_name": "mitochondrially encoded tRNA arginine", "omim_gene": [ "590005" ], "alias_name": null, "gene_symbol": "MT-TR", "hgnc_symbol": "MT-TR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:10405-10469", "ensembl_id": "ENSG00000210174" } }, "GRch38": { "90": { "location": "MT:10405-10469", "ensembl_id": "ENSG00000210174" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "15286228", "17588757", "19809478", "22781096" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "mitochondrial disease (MONDO:0044970), MT-TR-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0893" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29141", "gene_name": "WD repeat domain 47", "omim_gene": [ "615734" ], "alias_name": [ "nemitin" ], "gene_symbol": "WDR47", "hgnc_symbol": "WDR47", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:109512836-109584850", "ensembl_id": "ENSG00000085433" } }, "GRch38": { "90": { "location": "1:108970214-109042113", "ensembl_id": "ENSG00000085433" } } }, "hgnc_date_symbol_changed": "2004-11-12" }, "entity_type": "gene", "entity_name": "WDR47", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39609633" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Complex neurodevelopmental disorder MONDO:0100038, WDR47-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NOP5", "HSPC120" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29926", "gene_name": "NOP58 ribonucleoprotein", "omim_gene": [ "616742" ], "alias_name": null, "gene_symbol": "NOP58", "hgnc_symbol": "NOP58", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:203130439-203168389", "ensembl_id": "ENSG00000055044" } }, "GRch38": { "90": { "location": "2:202265716-202303666", "ensembl_id": "ENSG00000055044" } } }, "hgnc_date_symbol_changed": "2009-01-13" }, "entity_type": "gene", "entity_name": "NOP58", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41383020" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, NOP58-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p55", "FLJ38511" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11148", "gene_name": "fascin actin-bundling protein 1", "omim_gene": [ "602689" ], "alias_name": [ "Singed, drosophila, homolog-like", "actin bundling protein" ], "gene_symbol": "FSCN1", "hgnc_symbol": "FSCN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:5632439-5646286", "ensembl_id": "ENSG00000075618" } }, "GRch38": { "90": { "location": "7:5592823-5606655", "ensembl_id": "ENSG00000075618" } } }, "hgnc_date_symbol_changed": "2002-09-20" }, "entity_type": "gene", "entity_name": "FSCN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40874942" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, FSCN1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TRNS2", "RP8" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7498", "gene_name": "mitochondrially encoded tRNA serine 2 (AGU/C)", "omim_gene": [ "590085" ], "alias_name": null, "gene_symbol": "MT-TS2", "hgnc_symbol": "MT-TS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:12207-12265", "ensembl_id": "ENSG00000210184" } }, "GRch38": { "90": { "location": "MT:12207-12265", "ensembl_id": "ENSG00000210184" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "9792552", "10090882", "16950817", "21257182", "22369973", "22378285" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TS2-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PP5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9322", "gene_name": "protein phosphatase 5 catalytic subunit", "omim_gene": [ "600658" ], "alias_name": null, "gene_symbol": "PPP5C", "hgnc_symbol": "PPP5C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46850251-46896238", "ensembl_id": "ENSG00000011485" } }, "GRch38": { "90": { "location": "19:46346994-46392981", "ensembl_id": "ENSG00000011485" } } }, "hgnc_date_symbol_changed": "1993-02-05" }, "entity_type": "gene", "entity_name": "PPP5C", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35361529", "25363768", "33057194", "40172746" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, PPP5C-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TPR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12391", "gene_name": "tetratricopeptide repeat domain 1", "omim_gene": [ "601963" ], "alias_name": null, "gene_symbol": "TTC1", "hgnc_symbol": "TTC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:159436120-159492550", "ensembl_id": "ENSG00000113312" } }, "GRch38": { "90": { "location": "5:160009113-160065543", "ensembl_id": "ENSG00000113312" } } }, "hgnc_date_symbol_changed": "1997-12-12" }, "entity_type": "gene", "entity_name": "TTC1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40879651" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Pontocerebellar hypoplasia, MONDO:0020135, TTC1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ABI-2", "AIP-1", "ABI2B", "AblBP3", "argBPIA", "SSH3BP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24011", "gene_name": "abl interactor 2", "omim_gene": [ "606442" ], "alias_name": null, "gene_symbol": "ABI2", "hgnc_symbol": "ABI2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:204192942-204312446", "ensembl_id": "ENSG00000138443" } }, "GRch38": { "90": { "location": "2:203328219-203447723", "ensembl_id": "ENSG00000138443" } } }, "hgnc_date_symbol_changed": "2004-03-11" }, "entity_type": "gene", "entity_name": "ABI2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40475134" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, ABI2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "EMP", "GID9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13731", "gene_name": "macrophage erythroblast attacher", "omim_gene": [ "606801" ], "alias_name": [ "GID complex subunit 9, FYV10 homolog (S. cerevisiae)" ], "gene_symbol": "MAEA", "hgnc_symbol": "MAEA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:1283639-1333935", "ensembl_id": "ENSG00000090316" } }, "GRch38": { "90": { "location": "4:1289851-1340147", "ensembl_id": "ENSG00000090316" } } }, "hgnc_date_symbol_changed": "2000-11-07" }, "entity_type": "gene", "entity_name": "MAEA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40880485" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, MAEA-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HsT17432" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6772", "gene_name": "SMAD family member 6", "omim_gene": [ "602931" ], "alias_name": null, "gene_symbol": "SMAD6", "hgnc_symbol": "SMAD6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:66994566-67074338", "ensembl_id": "ENSG00000137834" } }, "GRch38": { "90": { "location": "15:66702228-66782848", "ensembl_id": "ENSG00000137834" } } }, "hgnc_date_symbol_changed": "2004-05-26" }, "entity_type": "gene", "entity_name": "SMAD6", "confidence_level": "3", "penetrance": "Incomplete", "mode_of_pathogenicity": null, "publications": [ "PMID: 32499606" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1884" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19290", "gene_name": "CUB and Sushi multiple domains 2", "omim_gene": [ "608398" ], "alias_name": null, "gene_symbol": "CSMD2", "hgnc_symbol": "CSMD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:33979609-34631443", "ensembl_id": "ENSG00000121904" } }, "GRch38": { "90": { "location": "1:33513999-34165842", "ensembl_id": "ENSG00000121904" } } }, "hgnc_date_symbol_changed": "2002-11-26" }, "entity_type": "gene", "entity_name": "CSMD2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40632521", "31068362", "38649688" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Focal epilepsy - MONDO:0005384, CSMD2-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Ipi3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17956", "gene_name": "WD repeat domain 18", "omim_gene": null, "alias_name": [ "Involved in Processing ITS2 3 homolog (S. cerevisiae)" ], "gene_symbol": "WDR18", "hgnc_symbol": "WDR18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:983174-994569", "ensembl_id": "ENSG00000065268" } }, "GRch38": { "90": { "location": "19:984271-998438", "ensembl_id": "ENSG00000065268" } } }, "hgnc_date_symbol_changed": "2002-01-10" }, "entity_type": "gene", "entity_name": "WDR18", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40677927" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cornelia de Lange syndrome - MONDO:0016033" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "M18BP1", "FLJ11186", "KIAA1903", "KNL2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20190", "gene_name": "MIS18 binding protein 1", "omim_gene": null, "alias_name": [ "kinetochore null 2 homolog (C. elegans)" ], "gene_symbol": "MIS18BP1", "hgnc_symbol": "MIS18BP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:45672393-45722743", "ensembl_id": "ENSG00000129534" } }, "GRch38": { "90": { "location": "14:45203190-45253540", "ensembl_id": "ENSG00000129534" } } }, "hgnc_date_symbol_changed": "2011-02-23" }, "entity_type": "gene", "entity_name": "MIS18BP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40677927" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cornelia de Lange syndrome (MONDO:0016033)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HSPC136", "FLJ20431" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18418", "gene_name": "huntingtin interacting protein K", "omim_gene": [ "612784" ], "alias_name": [ "Huntingtin yeast partner K" ], "gene_symbol": "HYPK", "hgnc_symbol": "HYPK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:44088340-44095241", "ensembl_id": "ENSG00000242028" } }, "GRch38": { "90": { "location": "15:43796142-43803043", "ensembl_id": "ENSG00000242028" } } }, "hgnc_date_symbol_changed": "2012-10-08" }, "entity_type": "gene", "entity_name": "HYPK", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40986405" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, HYPK-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ13149" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25790", "gene_name": "FAST kinase domains 5", "omim_gene": [ "614272" ], "alias_name": null, "gene_symbol": "FASTKD5", "hgnc_symbol": "FASTKD5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:3127165-3140543", "ensembl_id": "ENSG00000215251" } }, "GRch38": { "90": { "location": "20:3146519-3159897", "ensembl_id": "ENSG00000215251" } } }, "hgnc_date_symbol_changed": "2006-07-07" }, "entity_type": "gene", "entity_name": "FASTKD5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40499538" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ATP6", "ATPase-6", "Su6m" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7414", "gene_name": "mitochondrially encoded ATP synthase 6", "omim_gene": [ "516060" ], "alias_name": null, "gene_symbol": "MT-ATP6", "hgnc_symbol": "MT-ATP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:8527-9207", "ensembl_id": "ENSG00000198899" } }, "GRch38": { "90": { "location": "MT:8527-9207", "ensembl_id": "ENSG00000198899" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-ATP6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40112238" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DDXL", "BAT1L", "URH49" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17821", "gene_name": "DExD-box helicase 39A", "omim_gene": null, "alias_name": [ "UAP56-related helicase, 49 kDa" ], "gene_symbol": "DDX39A", "hgnc_symbol": "DDX39A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:14519631-14530192", "ensembl_id": "ENSG00000123136" } }, "GRch38": { "90": { "location": "19:14408819-14419383", "ensembl_id": "ENSG00000123136" } } }, "hgnc_date_symbol_changed": "2011-02-08" }, "entity_type": "gene", "entity_name": "DDX39A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40726340" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, DDX39A-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MORG1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32672", "gene_name": "WD repeat domain 83", "omim_gene": [ "616850" ], "alias_name": [ "MAPK organizer 1" ], "gene_symbol": "WDR83", "hgnc_symbol": "WDR83", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:12777614-12786646", "ensembl_id": "ENSG00000123154" } }, "GRch38": { "90": { "location": "19:12666800-12675832", "ensembl_id": "ENSG00000123154" } } }, "hgnc_date_symbol_changed": "2010-01-25" }, "entity_type": "gene", "entity_name": "WDR83", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "41381792" ], "evidence": [ "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, WDR83-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "U5A", "U5B1" ], "biotype": "snRNA", "hgnc_id": "HGNC:10211", "gene_name": "RNA, U5A small nuclear 1", "omim_gene": [ "180691" ], "alias_name": null, "gene_symbol": "RNU5A-1", "hgnc_symbol": "RNU5A-1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:65588389-65588504", "ensembl_id": "ENSG00000199568" } }, "GRch38": { "90": { "location": "15:65296051-65296166", "ensembl_id": "ENSG00000199568" } } }, "hgnc_date_symbol_changed": "2011-08-03" }, "entity_type": "gene", "entity_name": "RNU5A-1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40379786" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO:0700092), RNU5A-1 related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BRIGHT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3031", "gene_name": "AT-rich interaction domain 3A", "omim_gene": [ "603265" ], "alias_name": null, "gene_symbol": "ARID3A", "hgnc_symbol": "ARID3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:925781-975939", "ensembl_id": "ENSG00000116017" } }, "GRch38": { "90": { "location": "19:925781-975934", "ensembl_id": "ENSG00000116017" } } }, "hgnc_date_symbol_changed": "2004-01-30" }, "entity_type": "gene", "entity_name": "ARID3A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40677927" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cornelia de Lange syndrome - MONDO:0016033" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Vps34" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8974", "gene_name": "phosphatidylinositol 3-kinase catalytic subunit type 3", "omim_gene": [ "602609" ], "alias_name": null, "gene_symbol": "PIK3C3", "hgnc_symbol": "PIK3C3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:39535171-39667794", "ensembl_id": "ENSG00000078142" } }, "GRch38": { "90": { "location": "18:41955206-42087830", "ensembl_id": "ENSG00000078142" } } }, "hgnc_date_symbol_changed": "1998-05-21" }, "entity_type": "gene", "entity_name": "PIK3C3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40677927" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cornelia de Lange syndrome - MONDO:0016033" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "B18", "CI-B18", "MGC2480" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7702", "gene_name": "NADH:ubiquinone oxidoreductase subunit B7", "omim_gene": [ "603842" ], "alias_name": [ "NADH-ubiquinone oxidoreductase B18 subunit", "complex I B18 subunit" ], "gene_symbol": "NDUFB7", "hgnc_symbol": "NDUFB7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:14676890-14682874", "ensembl_id": "ENSG00000099795" } }, "GRch38": { "90": { "location": "19:14566078-14572062", "ensembl_id": "ENSG00000099795" } } }, "hgnc_date_symbol_changed": "1997-12-09" }, "entity_type": "gene", "entity_name": "NDUFB7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33502047", "27626371", "40025060" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GTL2", "NCRNA00023", "LINC00023", "onco-lncRNA-83" ], "biotype": "lincRNA", "hgnc_id": "HGNC:14575", "gene_name": "maternally expressed 3 (non-protein coding)", "omim_gene": [ "605636" ], "alias_name": [ "non-protein coding RNA 23", "long intergenic non-protein coding RNA 23" ], "gene_symbol": "MEG3", "hgnc_symbol": "MEG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:101245747-101327368", "ensembl_id": "ENSG00000214548" } }, "GRch38": { "90": { "location": "14:100779410-100861031", "ensembl_id": "ENSG00000214548" } } }, "hgnc_date_symbol_changed": "2001-02-08" }, "entity_type": "gene", "entity_name": "MEG3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33010492", "33746039", "33067531", "38212313" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Kagami-Ogata syndrome, MIM# 608149" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "COX2", "CO2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7421", "gene_name": "mitochondrially encoded cytochrome c oxidase II", "omim_gene": [ "516040" ], "alias_name": null, "gene_symbol": "MT-CO2", "hgnc_symbol": "MT-CO2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:7586-8269", "ensembl_id": "ENSG00000198712" } }, "GRch38": { "90": { "location": "MT:7586-8269", "ensembl_id": "ENSG00000198712" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-CO2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34325999", "30315213", "28521807", "10205264", "10486321", "11558799", "18245391", "23616164", "31167410", "23965802", "30030519" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GAT", "ACGNAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13734", "gene_name": "glycine-N-acyltransferase", "omim_gene": [ "607424" ], "alias_name": null, "gene_symbol": "GLYAT", "hgnc_symbol": "GLYAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:58407899-58499447", "ensembl_id": "ENSG00000149124" } }, "GRch38": { "90": { "location": "11:58640426-58731974", "ensembl_id": "ENSG00000149124" } } }, "hgnc_date_symbol_changed": "2001-05-04" }, "entity_type": "gene", "entity_name": "GLYAT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40747359" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, GLYAT-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0079" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10705", "gene_name": "SEC24 homolog C, COPII coat complex component", "omim_gene": [ "607185" ], "alias_name": null, "gene_symbol": "SEC24C", "hgnc_symbol": "SEC24C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:75504120-75531919", "ensembl_id": "ENSG00000176986" } }, "GRch38": { "90": { "location": "10:73744384-73772161", "ensembl_id": "ENSG00000176986" } } }, "hgnc_date_symbol_changed": "2000-01-07" }, "entity_type": "gene", "entity_name": "SEC24C", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40131364" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SEC24C-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "STK2", "se20-9", "KIAA0204" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11088", "gene_name": "STE20 like kinase", "omim_gene": [ "616563" ], "alias_name": null, "gene_symbol": "SLK", "hgnc_symbol": "SLK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:105726959-105788991", "ensembl_id": "ENSG00000065613" } }, "GRch38": { "90": { "location": "10:103967201-104029233", "ensembl_id": "ENSG00000065613" } } }, "hgnc_date_symbol_changed": "1992-04-16" }, "entity_type": "gene", "entity_name": "SLK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40347834" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, SLK-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PDZ-GEF1", "RA-GEF", "DKFZP586O1422", "KIAA0313" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16854", "gene_name": "Rap guanine nucleotide exchange factor 2", "omim_gene": [ "609530" ], "alias_name": [ "Rap GEP" ], "gene_symbol": "RAPGEF2", "hgnc_symbol": "RAPGEF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:160025330-160281321", "ensembl_id": "ENSG00000109756" } }, "GRch38": { "90": { "location": "4:159104178-159360169", "ensembl_id": "ENSG00000109756" } } }, "hgnc_date_symbol_changed": "2004-03-01" }, "entity_type": "gene", "entity_name": "RAPGEF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41556274", "30636905" ], "evidence": [ "Literature", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092", "amyotrophic lateral sclerosis MONDO:0004976" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "STR" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BLP2", "FLJ22604" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24128", "gene_name": "TM2 domain containing 3", "omim_gene": [ "610014" ], "alias_name": null, "gene_symbol": "TM2D3", "hgnc_symbol": "TM2D3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:102161847-102192594", "ensembl_id": "ENSG00000184277" } }, "GRch38": { "90": { "location": "15:101621444-101652391", "ensembl_id": "ENSG00000184277" } } }, "hgnc_date_symbol_changed": "2005-05-19" }, "entity_type": "gene", "entity_name": "TM2D3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40449487" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurocardiorenal malformation syndrome, MIM# 621379" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "trnV" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7500", "gene_name": "mitochondrially encoded tRNA valine", "omim_gene": [ "590105" ], "alias_name": null, "gene_symbol": "MT-TV", "hgnc_symbol": "MT-TV", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:1602-1670", "ensembl_id": "ENSG00000210077" } }, "GRch38": { "90": { "location": "MT:1602-1670", "ensembl_id": "ENSG00000210077" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TV", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "9450773", "12056939", "19252805", "15320572", "18314141", "24691472", "39468830" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TV-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ME2", "HFMI2", "FMI2", "CDHF9", "ADGRC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1850", "gene_name": "cadherin EGF LAG seven-pass G-type receptor 1", "omim_gene": [ "604523" ], "alias_name": [ "flamingo homolog 2 (Drosophila)", "adhesion G protein-coupled receptor C1" ], "gene_symbol": "CELSR1", "hgnc_symbol": "CELSR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:46756731-46933067", "ensembl_id": "ENSG00000075275" } }, "GRch38": { "90": { "location": "22:46360834-46537170", "ensembl_id": "ENSG00000075275" } } }, "hgnc_date_symbol_changed": "2000-02-14" }, "entity_type": "gene", "entity_name": "CELSR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41530147", "36453712" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder (MONDO:0700092), CELSR1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [ "Neurodevelopmental disorder (MONDO:0700092), CELSR1-related" ] }, { "gene_data": { "alias": [ "FLJ20508" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26039", "gene_name": "chromosome 1 open reading frame 109", "omim_gene": [ "614799" ], "alias_name": null, "gene_symbol": "C1orf109", "hgnc_symbol": "C1orf109", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:38147242-38157914", "ensembl_id": "ENSG00000116922" } }, "GRch38": { "90": { "location": "1:37681570-37692249", "ensembl_id": "ENSG00000116922" } } }, "hgnc_date_symbol_changed": "2005-06-03" }, "entity_type": "gene", "entity_name": "C1orf109", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40760247" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, C1orf109-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0400", "PAP", "SHAG1", "CENTB3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2721", "gene_name": "ArfGAP with SH3 domain, ankyrin repeat and PH domain 2", "omim_gene": [ "603817" ], "alias_name": [ "centaurin, beta 3" ], "gene_symbol": "ASAP2", "hgnc_symbol": "ASAP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:9346894-9545812", "ensembl_id": "ENSG00000151693" } }, "GRch38": { "90": { "location": "2:9206765-9405683", "ensembl_id": "ENSG00000151693" } } }, "hgnc_date_symbol_changed": "2008-09-22" }, "entity_type": "gene", "entity_name": "ASAP2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40770811", "28191890", "33057194", "35982160" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, ASAP2-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Kua" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16735", "gene_name": "transmembrane protein 189", "omim_gene": [ "610994" ], "alias_name": null, "gene_symbol": "TMEM189", "hgnc_symbol": "TMEM189", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:48697663-48770335", "ensembl_id": "ENSG00000240849" } }, "GRch38": { "90": { "location": "20:50118254-50153734", "ensembl_id": "ENSG00000240849" } } }, "hgnc_date_symbol_changed": "2007-07-27" }, "entity_type": "gene", "entity_name": "TMEM189", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41491239" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, PEDS1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] } ] }