Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=196
{ "count": 35558, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=197", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=195", "results": [ { "gene_data": { "alias": [ "ND4", "NAD4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7459", "gene_name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4", "omim_gene": [ "516003" ], "alias_name": [ "complex I ND4 subunit", "NADH-ubiquinone oxidoreductase chain 4" ], "gene_symbol": "MT-ND4", "hgnc_symbol": "MT-ND4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:10760-12137", "ensembl_id": "ENSG00000198886" } }, "GRch38": { "90": { "location": "MT:10760-12137", "ensembl_id": "ENSG00000198886" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-ND4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "12707444", "16120329", "15576045", "20502985", "27761019", "32445240", "32659360", "3201231" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-ND4-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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:28996", "gene_name": "RTF1 homolog, Paf1/RNA polymerase II complex component", "omim_gene": [ "611633" ], "alias_name": null, "gene_symbol": "RTF1", "hgnc_symbol": "RTF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:41700606-41775761", "ensembl_id": "ENSG00000137815" } }, "GRch38": { "90": { "location": "15:41408408-41483563", "ensembl_id": "ENSG00000137815" } } }, "hgnc_date_symbol_changed": "2005-07-20" }, "entity_type": "gene", "entity_name": "RTF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40770811", "33057194", "35982160", "31038196" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, RTF1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp434H247", "MED2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23074", "gene_name": "mediator complex subunit 29", "omim_gene": [ "612914" ], "alias_name": null, "gene_symbol": "MED29", "hgnc_symbol": "MED29", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:39881943-39891277", "ensembl_id": "ENSG00000063322" } }, "GRch38": { "90": { "location": "19:39391303-39400637", "ensembl_id": "ENSG00000063322" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "MED29", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 40745490" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Pontocerebellar hypoplasia, MONDO:0020135, MED29-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TFB2", "TFIIH", "P52" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4658", "gene_name": "general transcription factor IIH subunit 4", "omim_gene": [ "601760" ], "alias_name": null, "gene_symbol": "GTF2H4", "hgnc_symbol": "GTF2H4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:30875961-30881883", "ensembl_id": "ENSG00000213780" } }, "GRch38": { "90": { "location": "6:30908184-30914106", "ensembl_id": "ENSG00000213780" } } }, "hgnc_date_symbol_changed": "1998-08-19" }, "entity_type": "gene", "entity_name": "GTF2H4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40924495", "40924475" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Xeroderma pigmentosum, complementation group J, MIM# 621435" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "B56E", "B56epsilon" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9313", "gene_name": "protein phosphatase 2 regulatory subunit B'epsilon", "omim_gene": [ "601647" ], "alias_name": null, "gene_symbol": "PPP2R5E", "hgnc_symbol": "PPP2R5E", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:63838075-64010092", "ensembl_id": "ENSG00000154001" } }, "GRch38": { "90": { "location": "14:63371357-63543374", "ensembl_id": "ENSG00000154001" } } }, "hgnc_date_symbol_changed": "1996-05-08" }, "entity_type": "gene", "entity_name": "PPP2R5E", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39284558" ], "evidence": [ "Literature" ], "phenotypes": [ "Mendelian neurodevelopmental disorder MONDO:0100500" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CH1", "SLP1", "OPT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1240", "gene_name": "SUN domain containing ossification factor", "omim_gene": null, "alias_name": [ "SUN-like protein 1", "osteopotentia" ], "gene_symbol": "SUCO", "hgnc_symbol": "SUCO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:172501489-172580971", "ensembl_id": "ENSG00000094975" } }, "GRch38": { "90": { "location": "1:172532349-172611833", "ensembl_id": "ENSG00000094975" } } }, "hgnc_date_symbol_changed": "2012-07-10" }, "entity_type": "gene", "entity_name": "SUCO", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29620724", "20440000", "41282771" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Syndromic disease (MONDO:0002254), SUCO-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 250, "hash_id": null, "name": "Intellectual disability syndromic and non-syndromic", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "LSR68" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19853", "gene_name": "ELM2 and Myb/SANT domain containing 1", "omim_gene": null, "alias_name": null, "gene_symbol": "ELMSAN1", "hgnc_symbol": "ELMSAN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:74181825-74256988", "ensembl_id": "ENSG00000156030" } }, "GRch38": { "90": { "location": "14:73715122-73790285", "ensembl_id": "ENSG00000156030" } } }, "hgnc_date_symbol_changed": "2012-09-25" }, "entity_type": "gene", "entity_name": "ELMSAN1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related" ], "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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NR3B3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3474", "gene_name": "estrogen related receptor gamma", "omim_gene": [ "602969" ], "alias_name": null, "gene_symbol": "ESRRG", "hgnc_symbol": "ESRRG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:216676588-217311097", "ensembl_id": "ENSG00000196482" } }, "GRch38": { "90": { "location": "1:216503246-217137755", "ensembl_id": "ENSG00000196482" } } }, "hgnc_date_symbol_changed": "1998-02-17" }, "entity_type": "gene", "entity_name": "ESRRG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41265451" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Movement disorder, MONDO:0005395, ESRRG-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. 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DHRS5X", "DHRSXY", "DHRSY", "DHRS5Y", "SDR46C1", "SDR7C6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18399", "gene_name": "dehydrogenase/reductase X-linked", "omim_gene": null, "alias_name": [ "short chain dehydrogenase/reductase family 7C, member 6", "short chain dehydrogenase/reductase family 46C, member 1", "dehydrogenase/reductase (SDR family) Y-linked" ], "gene_symbol": "DHRSX", "hgnc_symbol": "DHRSX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:2137557-2420846", "ensembl_id": "ENSG00000169084" } }, "GRch38": { "90": { "location": "X:2219516-2502805", "ensembl_id": "ENSG00000169084" } } }, "hgnc_date_symbol_changed": "2002-03-18" }, "entity_type": "gene", "entity_name": "DHRSX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38821050" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation, type 1DD, MIM# 301133" ], "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. 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.", "status": "public", "version": "1.760", "version_created": "2026-04-26T17:50:23.271073+10:00", "relevant_disorders": [ "Intellectual disability", "HP:0001249; Neurodevelopmental delay", "HP:0012758" ], "stats": { "number_of_genes": 2524, "number_of_strs": 10, "number_of_regions": 57 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CGI-116" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24256", "gene_name": "WASH complex subunit 3", "omim_gene": null, "alias_name": null, "gene_symbol": "WASHC3", "hgnc_symbol": "WASHC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:102406705-102455927", "ensembl_id": "ENSG00000120860" } }, "GRch38": { "90": { "location": "12:102012927-102062149", "ensembl_id": "ENSG00000120860" } } }, "hgnc_date_symbol_changed": "2016-10-14" }, "entity_type": "gene", "entity_name": "WASHC3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40129681" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "neurodevelopmental disorder MONDO:0700092, WASHC3 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": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CtIP", "RIM", "COM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9891", "gene_name": "RB binding protein 8, endonuclease", "omim_gene": [ "604124" ], "alias_name": [ "CTBP-interacting protein" ], "gene_symbol": "RBBP8", "hgnc_symbol": "RBBP8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:20378224-20606451", "ensembl_id": "ENSG00000101773" } }, "GRch38": { "90": { "location": "18:22798261-23026488", "ensembl_id": "ENSG00000101773" } } }, "hgnc_date_symbol_changed": "1998-02-12" }, "entity_type": "gene", "entity_name": "RBBP8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21998596", "34270086" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical 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"types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12614", "NRX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18008", "gene_name": "nucleoredoxin", "omim_gene": [ "612895" ], "alias_name": null, "gene_symbol": "NXN", "hgnc_symbol": "NXN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:702553-883010", "ensembl_id": "ENSG00000167693" } }, "GRch38": { "90": { "location": "17:799313-979770", "ensembl_id": "ENSG00000167693" } } }, "hgnc_date_symbol_changed": "2002-01-16" }, "entity_type": "gene", "entity_name": "NXN", "confidence_level": "3", 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"2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NPWBP", "SIPP1", "PPP1R165" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16461", "gene_name": "WW domain binding protein 11", "omim_gene": null, "alias_name": [ "splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165" ], "gene_symbol": "WBP11", "hgnc_symbol": "WBP11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:14939410-14956474", "ensembl_id": "ENSG00000084463" } }, "GRch38": { "90": { "location": "12:14784579-14803540", "ensembl_id": "ENSG00000084463" } } }, "hgnc_date_symbol_changed": "2001-08-28" }, "entity_type": "gene", "entity_name": "WBP11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33276377" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227", "malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MYHC-EMB", "MYHSE1", "HEMHC", "SMHCE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7573", "gene_name": "myosin heavy chain 3", "omim_gene": [ "160720" ], "alias_name": [ "myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3" ], "gene_symbol": "MYH3", "hgnc_symbol": "MYH3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:10531843-10560626", "ensembl_id": "ENSG00000109063" } }, "GRch38": { "90": { "location": "17:10628526-10657309", "ensembl_id": "ENSG00000109063" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MYH3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16642020", "29805041" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700", "Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436", "Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110", "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1072", "gene_name": "bone morphogenetic protein 5", "omim_gene": [ "112265" ], "alias_name": null, "gene_symbol": "BMP5", "hgnc_symbol": "BMP5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:55618443-55740362", "ensembl_id": "ENSG00000112175" } }, "GRch38": { "90": { "location": "6:55753645-55875564", "ensembl_id": "ENSG00000112175" } } }, "hgnc_date_symbol_changed": "1991-06-05" }, "entity_type": "gene", "entity_name": "BMP5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39239663" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Skeletal dysplasia, MONDO:0018230, BMP5-related", "Skeletal dysostosis and atrioventricular septal defect" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC16824" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24641", "gene_name": "chromosome 16 open reading frame 62", "omim_gene": null, "alias_name": null, "gene_symbol": "C16orf62", "hgnc_symbol": "C16orf62", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:19566562-19718115", "ensembl_id": "ENSG00000103544" } }, "GRch38": { "90": { "location": "16:19555240-19706793", "ensembl_id": "ENSG00000103544" } } }, "hgnc_date_symbol_changed": "2007-10-22" }, "entity_type": "gene", "entity_name": "C16orf62", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25434475", "31712251" ], "evidence": [ "Expert Review Amber", "Expert list", "Expert list" ], "phenotypes": [ "Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FRP1", "SCKL", "SCKL1", "MEC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:882", "gene_name": "ATR serine/threonine kinase", "omim_gene": [ "601215" ], "alias_name": [ "MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)" ], "gene_symbol": "ATR", "hgnc_symbol": "ATR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:142168077-142297668", "ensembl_id": "ENSG00000175054" } }, "GRch38": { "90": { "location": "3:142449235-142578826", "ensembl_id": "ENSG00000175054" } } }, "hgnc_date_symbol_changed": "1998-04-06" }, "entity_type": "gene", "entity_name": "ATR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12640452", "19620979", "30199583", "23111928" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Seckel syndrome 1, MIM# 210600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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", "Literature" ], "phenotypes": [ "TIMES syndrome MIM#621056" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:13717", "gene_name": "ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)", "omim_gene": [ "617001" ], "alias_name": null, "gene_symbol": "ENPP5", "hgnc_symbol": "ENPP5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:46126924-46138708", "ensembl_id": "ENSG00000112796" } }, "GRch38": { "90": { "location": "6:46159187-46170971", "ensembl_id": "ENSG00000112796" } } }, "hgnc_date_symbol_changed": "2000-10-18" }, "entity_type": "gene", "entity_name": "ENPP5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40457511" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Skeletal dysplasia, MONDO:0018230, ENPP5-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BK125H2.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18150", "gene_name": "myosin XVIIIB", "omim_gene": [ "607295" ], "alias_name": null, "gene_symbol": "MYO18B", "hgnc_symbol": "MYO18B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:26138111-26427007", "ensembl_id": "ENSG00000133454" } }, "GRch38": { "90": { "location": "22:25742144-26031041", "ensembl_id": "ENSG00000133454" } } }, "hgnc_date_symbol_changed": "2002-04-29" }, "entity_type": "gene", "entity_name": "MYO18B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25748484", "27858739", "32637634", "32184166", "27879346" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "K-FGF", "HBGF-4", "HST", "HST-1", "KFGF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3682", "gene_name": "fibroblast growth factor 4", "omim_gene": [ "164980" ], "alias_name": [ "human stomach cancer, transforming factor from FGF-related oncogene", "kaposi sarcoma oncogene", "transforming protein KS3" ], "gene_symbol": "FGF4", "hgnc_symbol": "FGF4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:69587797-69590171", "ensembl_id": "ENSG00000075388" } }, "GRch38": { "90": { "location": "11:69771016-69775403", "ensembl_id": "ENSG00000075388" } } }, "hgnc_date_symbol_changed": "1988-04-20" }, "entity_type": "gene", "entity_name": "FGF4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40259859" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HGFR", "RCCP2", "DFNB97" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7029", "gene_name": "MET proto-oncogene, receptor tyrosine kinase", "omim_gene": [ "164860" ], "alias_name": [ "hepatocyte growth factor receptor" ], "gene_symbol": "MET", "hgnc_symbol": "MET", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:116312444-116438440", "ensembl_id": "ENSG00000105976" } }, "GRch38": { "90": { "location": "7:116672390-116798386", "ensembl_id": "ENSG00000105976" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "MET", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26637977" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "{Osteofibrous dysplasia, susceptibility to}\t607278" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "AIF", "CMTX4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8768", "gene_name": "apoptosis inducing factor mitochondria associated 1", "omim_gene": [ "300169" ], "alias_name": null, "gene_symbol": "AIFM1", "hgnc_symbol": "AIFM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:129263337-129299861", "ensembl_id": "ENSG00000156709" } }, "GRch38": { "90": { "location": "X:130129362-130165887", "ensembl_id": "ENSG00000156709" } } }, "hgnc_date_symbol_changed": "2006-11-16" }, "entity_type": "gene", "entity_name": "AIFM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33439541", "28842795", "27102849" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "spondyloepimetaphyseal dysplasia, Bieganski type, MONDO:0010275", "Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0912", "SCKL5", "MCPH9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29298", "gene_name": "centrosomal protein 152", "omim_gene": [ "613529" ], "alias_name": [ "asterless" ], "gene_symbol": "CEP152", "hgnc_symbol": "CEP152", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:49005125-49103343", "ensembl_id": "ENSG00000103995" } }, "GRch38": { "90": { "location": "15:48712928-48811146", "ensembl_id": "ENSG00000103995" } } }, "hgnc_date_symbol_changed": "2005-12-01" }, "entity_type": "gene", "entity_name": "CEP152", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21131973" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Seckel syndrome 5, MIM# 613823", "MONDO:0013443" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ABS", "MGC8828" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18674", "gene_name": "DEAD-box helicase 41", "omim_gene": [ "608170" ], "alias_name": null, "gene_symbol": "DDX41", "hgnc_symbol": "DDX41", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:176938578-176944470", "ensembl_id": "ENSG00000183258" } }, "GRch38": { "90": { "location": "5:177511577-177517469", "ensembl_id": "ENSG00000183258" } } }, "hgnc_date_symbol_changed": "2003-06-13" }, "entity_type": "gene", "entity_name": "DDX41", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39453476" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Bone dysplasia, ichthyosis, and dysmorphism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "dJ331H24.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21378", "gene_name": "opioid growth factor receptor like 1", "omim_gene": null, "alias_name": null, "gene_symbol": "OGFRL1", "hgnc_symbol": "OGFRL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:71998506-72018653", "ensembl_id": "ENSG00000119900" } }, "GRch38": { "90": { "location": "6:71288803-71308950", "ensembl_id": "ENSG00000119900" } } }, "hgnc_date_symbol_changed": "2003-06-11" }, "entity_type": "gene", "entity_name": "OGFRL1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38699440" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cherubism (MONDO:0007315), OGFRL1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NMNAT", "PNAT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17877", "gene_name": "nicotinamide nucleotide adenylyltransferase 1", "omim_gene": [ "608700" ], "alias_name": null, "gene_symbol": "NMNAT1", "hgnc_symbol": "NMNAT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:10003486-10045559", "ensembl_id": "ENSG00000173614" } }, "GRch38": { "90": { "location": "1:9943428-9985501", "ensembl_id": "ENSG00000173614" } } }, "hgnc_date_symbol_changed": "2003-05-02" }, "entity_type": "gene", "entity_name": "NMNAT1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32533184, 33668384" ], "evidence": [ "Expert Review Amber", "Expert List" ], "phenotypes": [ "Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "P5", "ERp5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30168", "gene_name": "protein disulfide isomerase family A member 6", "omim_gene": [ "611099" ], "alias_name": [ "protein disulfide isomerase-related protein" ], "gene_symbol": "PDIA6", "hgnc_symbol": "PDIA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:10923517-10978103", "ensembl_id": "ENSG00000143870" } }, "GRch38": { "90": { "location": "2:10783391-10837977", "ensembl_id": "ENSG00000143870" } } }, "hgnc_date_symbol_changed": "2005-03-03" }, "entity_type": "gene", "entity_name": "PDIA6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40974269", "35856135", "33495992" ], "evidence": [ "Expert Review Green", "Literature", "Literature", "Literature", "Literature" ], "phenotypes": [ "multiple congenital anomalies, MONDO:0019042, PDIA6-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "UGTrel4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16872", "gene_name": "solute carrier family 35 member B2", "omim_gene": [ "610788" ], "alias_name": null, "gene_symbol": "SLC35B2", "hgnc_symbol": "SLC35B2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:44221833-44225291", "ensembl_id": "ENSG00000157593" } }, "GRch38": { "90": { "location": "6:44254096-44257890", "ensembl_id": "ENSG00000157593" } } }, "hgnc_date_symbol_changed": "2003-04-10" }, "entity_type": "gene", "entity_name": "SLC35B2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35325049" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11597", "gene_name": "T-box 2", "omim_gene": [ "600747" ], "alias_name": null, "gene_symbol": "TBX2", "hgnc_symbol": "TBX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:59477257-59486827", "ensembl_id": "ENSG00000121068" } }, "GRch38": { "90": { "location": "17:61399896-61409466", "ensembl_id": "ENSG00000121068" } } }, "hgnc_date_symbol_changed": "1995-05-08" }, "entity_type": "gene", "entity_name": "TBX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29726930", "23727221", "20635360", "30223900", "36733940", "35311234" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:18179", "gene_name": "VPS33A, CORVET/HOPS core subunit", "omim_gene": [ "610034" ], "alias_name": null, "gene_symbol": "VPS33A", "hgnc_symbol": "VPS33A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:122714111-122751068", "ensembl_id": "ENSG00000139719" } }, "GRch38": { "90": { "location": "12:122229564-122266521", "ensembl_id": "ENSG00000139719" } } }, "hgnc_date_symbol_changed": "2002-02-13" }, "entity_type": "gene", "entity_name": "VPS33A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28013294", "27547915", "31936524", "36153662" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mucopolysaccharidosis-plus syndrome (MIM#617303)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSPC139" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14312", "gene_name": "CXXC repeat containing interactor of PDZ3 domain", "omim_gene": [ "604594" ], "alias_name": null, "gene_symbol": "CRIPT", "hgnc_symbol": "CRIPT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:46843555-46852881", "ensembl_id": "ENSG00000119878" } }, "GRch38": { "90": { "location": "2:46616416-46625742", "ensembl_id": "ENSG00000119878" } } }, "hgnc_date_symbol_changed": "2006-06-22" }, "entity_type": "gene", "entity_name": "CRIPT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24389050", "27250922", "36630262", "37013901" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Short stature with microcephaly and distinctive facies (MIM#615789)", "Rothmund-Thomson syndrome MONDO:0010002" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HNRPI", "HNRNP-I", "PTB2", "PTB3", "PTB-1", "PTB4", "pPTB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9583", "gene_name": "polypyrimidine tract binding protein 1", "omim_gene": [ "600693" ], "alias_name": [ "heterogeneous nuclear ribonucleoprotein I" ], "gene_symbol": "PTBP1", "hgnc_symbol": "PTBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:797075-812327", "ensembl_id": "ENSG00000011304" } }, "GRch38": { "90": { "location": "19:797075-812327", "ensembl_id": "ENSG00000011304" } } }, "hgnc_date_symbol_changed": "2002-01-25" }, "entity_type": "gene", "entity_name": "PTBP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40965981" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "STAD syndrome, MIM# 621495" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0901", "JM21", "HD6", "FLJ16239", "PPP1R90" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14064", "gene_name": "histone deacetylase 6", "omim_gene": [ "300272" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 90" ], "gene_symbol": "HDAC6", "hgnc_symbol": "HDAC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:48659784-48683392", "ensembl_id": "ENSG00000094631" } }, "GRch38": { "90": { "location": "X:48801377-48824982", "ensembl_id": "ENSG00000094631" } } }, "hgnc_date_symbol_changed": "2000-11-28" }, "entity_type": "gene", "entity_name": "HDAC6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20181727" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "chondrodysplasia MONDO:0022723" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "dJ482C21.1", "NET25" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21244", "gene_name": "LEM domain containing 2", "omim_gene": [ "616312" ], "alias_name": null, "gene_symbol": "LEMD2", "hgnc_symbol": "LEMD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33738979-33756913", "ensembl_id": "ENSG00000161904" } }, "GRch38": { "90": { "location": "6:33771202-33789136", "ensembl_id": "ENSG00000161904" } } }, "hgnc_date_symbol_changed": "2003-05-29" }, "entity_type": "gene", "entity_name": "LEMD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38757373", "37867468", "30905398" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Marbach-Rustad progeroid syndrome MONDO:0859147" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IGFBP8", "CCN2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2500", "gene_name": "connective tissue growth factor", "omim_gene": [ "121009" ], "alias_name": null, "gene_symbol": "CTGF", "hgnc_symbol": "CTGF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:132269316-132272513", "ensembl_id": "ENSG00000118523" } }, "GRch38": { "90": { "location": "6:131948176-131951373", "ensembl_id": "ENSG00000118523" } } }, "hgnc_date_symbol_changed": "1992-12-01" }, "entity_type": "gene", "entity_name": "CTGF", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39506047" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Kyphomelic dysplasia MONDO:0008881", "Spondyloepimetaphyseal dysplasia MONDO:0100510" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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": [ "SV/CNV", "non-coding gene" ], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2935", "gene_name": "doublesex and mab-3 related transcription factor 2", "omim_gene": [ "604935" ], "alias_name": [ "terra-like protein" ], "gene_symbol": "DMRT2", "hgnc_symbol": "DMRT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:1050354-1057552", "ensembl_id": "ENSG00000173253" } }, "GRch38": { "90": { "location": "9:1049858-1057552", "ensembl_id": "ENSG00000173253" } } }, "hgnc_date_symbol_changed": "1999-07-09" }, "entity_type": "gene", "entity_name": "DMRT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 41014130", "29681102", "16387292" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ90037" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15830", "gene_name": "odd-skipped related transciption factor 2", "omim_gene": [ "611297" ], "alias_name": null, "gene_symbol": "OSR2", "hgnc_symbol": "OSR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:99956631-99964332", "ensembl_id": "ENSG00000164920" } }, "GRch38": { "90": { "location": "8:98944403-98952104", "ensembl_id": "ENSG00000164920" } } }, "hgnc_date_symbol_changed": "2004-11-22" }, "entity_type": "gene", "entity_name": "OSR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41424369", "21262216" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Skeletal dysplasia, MONDO:0018230, OSR2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6469", "gene_name": "kynureninase", "omim_gene": [ "605197" ], "alias_name": [ "L-kynurenine hydrolase" ], "gene_symbol": "KYNU", "hgnc_symbol": "KYNU", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:143635067-143799890", "ensembl_id": "ENSG00000115919" } }, "GRch38": { "90": { "location": "2:142877498-143055832", "ensembl_id": "ENSG00000115919" } } }, "hgnc_date_symbol_changed": "1999-09-20" }, "entity_type": "gene", "entity_name": "KYNU", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17334708", "28792876", "31923704" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "NHS GMS", "NHS GMS" ], "phenotypes": [ "Hydroxykynureninuria MIM#236800", "Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661", "Disorders of histidine, tryptophan or lysine metabolism" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:649", "gene_name": "archain 1", "omim_gene": [ "600820" ], "alias_name": null, "gene_symbol": "ARCN1", "hgnc_symbol": "ARCN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118443105-118473748", "ensembl_id": "ENSG00000095139" } }, "GRch38": { "90": { "location": "11:118572390-118603033", "ensembl_id": "ENSG00000095139" } } }, "hgnc_date_symbol_changed": "1994-08-29" }, "entity_type": "gene", "entity_name": "ARCN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27476655", "33154040", "35300924" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0083" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2939", "gene_name": "DNA replication helicase/nuclease 2", "omim_gene": [ "601810" ], "alias_name": null, "gene_symbol": "DNA2", "hgnc_symbol": "DNA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:70173821-70231879", "ensembl_id": "ENSG00000138346" } }, "GRch38": { "90": { "location": "10:68414064-68472121", "ensembl_id": "ENSG00000138346" } } }, "hgnc_date_symbol_changed": "2008-01-08" }, "entity_type": "gene", "entity_name": "DNA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24389050", "31045292", "23352259", "25635128", "28554558", "37133451" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Rothmund-Thomson syndrome, type 4, MIM# 620819", "Seckel syndrome 8, MIM#615807", "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3086", "gene_name": "dishevelled segment polarity protein 2", "omim_gene": [ "602151" ], "alias_name": null, "gene_symbol": "DVL2", "hgnc_symbol": "DVL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7128660-7137864", "ensembl_id": "ENSG00000004975" } }, "GRch38": { "90": { "location": "17:7225341-7234545", "ensembl_id": "ENSG00000004975" } } }, "hgnc_date_symbol_changed": "1996-03-12" }, "entity_type": "gene", "entity_name": "DVL2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35047859", "33599851", "30521570" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Robinow syndrome MONDO:0019978" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "bA571F15.4", "FLJ10933", "FLJ43884" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19916", "gene_name": "kinesin family member 24", "omim_gene": [ "613747" ], "alias_name": null, "gene_symbol": "KIF24", "hgnc_symbol": "KIF24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:34252379-34329198", "ensembl_id": "ENSG00000186638" } }, "GRch38": { "90": { "location": "9:34252381-34311371", "ensembl_id": "ENSG00000186638" } } }, "hgnc_date_symbol_changed": "2002-12-03" }, "entity_type": "gene", "entity_name": "KIF24", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35748595" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Skeletal dysplasia MONDO:0018230, KIF24 related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "beta3GalT6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17978", "gene_name": "beta-1,3-galactosyltransferase 6", "omim_gene": [ "615291" ], "alias_name": [ "beta-1,3-galactosyltransferase-6" ], "gene_symbol": "B3GALT6", "hgnc_symbol": "B3GALT6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:1167629-1170421", "ensembl_id": "ENSG00000176022" } }, "GRch38": { "90": { "location": "1:1232265-1235041", "ensembl_id": "ENSG00000176022" } } }, "hgnc_date_symbol_changed": "2002-01-09" }, "entity_type": "gene", "entity_name": "B3GALT6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "NHS GMS", "Emory Genetics Laboratory", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ehlers-Danlos syndrome, progeroid type, 2 615349", "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:15672", "gene_name": "ALG9, alpha-1,2-mannosyltransferase", "omim_gene": [ "606941" ], "alias_name": [ "dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase" ], "gene_symbol": "ALG9", "hgnc_symbol": "ALG9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:111652919-111742305", "ensembl_id": "ENSG00000086848" } }, "GRch38": { "90": { "location": "11:111782195-111871581", "ensembl_id": "ENSG00000086848" } } }, "hgnc_date_symbol_changed": "2004-08-26" }, "entity_type": "gene", "entity_name": "ALG9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25966638" ], "evidence": [ "Expert Review Green", "Expert Review Green", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Gillessen-Kaesbach-Nishimura syndrome\t263210", "Congenital disorder of glycosylation, type Il 608776", "Gillessen-Kaesbach-Nishimura syndrome 263210" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CLG3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7159", "gene_name": "matrix metallopeptidase 13", "omim_gene": [ "600108" ], "alias_name": [ "collagenase 3" ], "gene_symbol": "MMP13", "hgnc_symbol": "MMP13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:102813724-102826463", "ensembl_id": "ENSG00000137745" } }, "GRch38": { "90": { "location": "11:102942995-102955734", "ensembl_id": "ENSG00000137745" } } }, "hgnc_date_symbol_changed": "1994-11-20" }, "entity_type": "gene", "entity_name": "MMP13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24648384" ], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Metaphyseal anadysplasia 1 602111", "Spondyloepimetaphyseal dysplasia, Missouri type 602111", "Metaphyseal dysplasia, Spahr type - 250400" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 258, "hash_id": null, "name": "Skeletal dysplasia", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "description": "This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.", "status": "public", "version": "0.433", "version_created": "2026-04-23T20:38:03.561440+10:00", "relevant_disorders": [ "Skeletal dysplasia", "HP:0002652" ], "stats": { "number_of_genes": 633, "number_of_strs": 4, "number_of_regions": 7 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null } ] }