Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=35
{ "count": 35521, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=36", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=34", "results": [ { "gene_data": { "alias": [ "FLJ25330", "ODA7", "CILD13", "swt" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30539", "gene_name": "dynein axonemal assembly factor 1", "omim_gene": [ "613190" ], "alias_name": [ "outer row dynein assembly 7 homolog (Chlamydomonas)" ], "gene_symbol": "DNAAF1", "hgnc_symbol": "DNAAF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:84178865-84212373", "ensembl_id": "ENSG00000154099" } }, "GRch38": { "90": { "location": "16:84145287-84178767", "ensembl_id": "ENSG00000154099" } } }, "hgnc_date_symbol_changed": "2011-06-09" }, "entity_type": "gene", "entity_name": "DNAAF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19944400", "19944405", "32502479", "29228333", "27261005" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 13, MIM# 613193" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TSARG6", "RSPH16A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30718", "gene_name": "DnaJ heat shock protein family (Hsp40) member B13", "omim_gene": [ "610263" ], "alias_name": [ "radial spoke 16 homolog A (Chlamydomonas)" ], "gene_symbol": "DNAJB13", "hgnc_symbol": "DNAJB13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:73661364-73681411", "ensembl_id": "ENSG00000187726" } }, "GRch38": { "90": { "location": "11:73950319-73970366", "ensembl_id": "ENSG00000187726" } } }, "hgnc_date_symbol_changed": "2005-07-01" }, "entity_type": "gene", "entity_name": "DNAJB13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID:27486783" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ciliary dyskinesia, primary, 34\t617091" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ENaCgamma", "SCNEG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10602", "gene_name": "sodium channel epithelial 1 gamma subunit", "omim_gene": [ "600761" ], "alias_name": null, "gene_symbol": "SCNN1G", "hgnc_symbol": "SCNN1G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23194036-23228204", "ensembl_id": "ENSG00000166828" } }, "GRch38": { "90": { "location": "16:23182715-23216883", "ensembl_id": "ENSG00000166828" } } }, "hgnc_date_symbol_changed": "1995-05-10" }, "entity_type": "gene", "entity_name": "SCNN1G", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29997923", "30801930", "18507830" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Bronchiectasis with or without elevated sweat chloride 3, MIM#\t613071" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "UDG2", "FLJ22422", "UNG2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18576", "gene_name": "cyclin O", "omim_gene": [ "607752" ], "alias_name": null, "gene_symbol": "CCNO", "hgnc_symbol": "CCNO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:54526980-54529508", "ensembl_id": "ENSG00000152669" } }, "GRch38": { "90": { "location": "5:55231152-55233680", "ensembl_id": "ENSG00000152669" } } }, "hgnc_date_symbol_changed": "2007-07-26" }, "entity_type": "gene", "entity_name": "CCNO", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24747639", "31765523", "28801648" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 29, MIM# 615872" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NYD-SP28", "FLJ35732", "FAP250", "CFAP250", "CILD27", "DRC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29937", "gene_name": "coiled-coil domain containing 65", "omim_gene": [ "611088" ], "alias_name": null, "gene_symbol": "CCDC65", "hgnc_symbol": "CCDC65", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49297893-49325623", "ensembl_id": "ENSG00000139537" } }, "GRch38": { "90": { "location": "12:48904110-48931840", "ensembl_id": "ENSG00000139537" } } }, "hgnc_date_symbol_changed": "2006-01-26" }, "entity_type": "gene", "entity_name": "CCDC65", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23991085", "24094744" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 27, MIM# 615504" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20467", "FBB18", "CILD26", "Kur" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1301", "gene_name": "chromosome 21 open reading frame 59", "omim_gene": [ "615494" ], "alias_name": [ "kurly homolog (zebrafish)" ], "gene_symbol": "C21orf59", "hgnc_symbol": "C21orf59", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:33964389-33985176", "ensembl_id": "ENSG00000159079" } }, "GRch38": { "90": { "location": "21:32592079-32612866", "ensembl_id": "ENSG00000159079" } } }, "hgnc_date_symbol_changed": "2000-06-28" }, "entity_type": "gene", "entity_name": "C21orf59", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24094744", "26904945" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 26, MIM# 615500" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder", "new gene name" ], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20753", "KIAA1640", "FLJ32021", "CILD15", "FAP172" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26090", "gene_name": "coiled-coil domain containing 40", "omim_gene": [ "613799" ], "alias_name": null, "gene_symbol": "CCDC40", "hgnc_symbol": "CCDC40", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:78010435-78074412", "ensembl_id": "ENSG00000141519" } }, "GRch38": { "90": { "location": "17:80036632-80100613", "ensembl_id": "ENSG00000141519" } } }, "hgnc_date_symbol_changed": "2005-12-13" }, "entity_type": "gene", "entity_name": "CCDC40", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21131974", "23255504", "31879361", "31765523", "31650533" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliary dyskinesia, primary, 15, MIM#613808" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ36006", "bA373N18.2", "FLJ22944" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26684", "gene_name": "cilia and flagella associated protein 43", "omim_gene": [ "617558" ], "alias_name": null, "gene_symbol": "CFAP43", "hgnc_symbol": "CFAP43", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:105889646-105992120", "ensembl_id": "ENSG00000197748" } }, "GRch38": { "90": { "location": "10:104129888-104232362", "ensembl_id": "ENSG00000197748" } } }, "hgnc_date_symbol_changed": "2014-07-18" }, "entity_type": "gene", "entity_name": "CFAP43", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 31884020", "28552195", "31004071", "29449551" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Hydrocephalus, normal pressure, 1\t236690", "Spermatogenic failure 19\t617592" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [ "disputed" ], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP434H0115" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25280", "gene_name": "tetratricopeptide repeat domain 25", "omim_gene": [ "617095" ], "alias_name": null, "gene_symbol": "TTC25", "hgnc_symbol": "TTC25", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40086888-40117648", "ensembl_id": "ENSG00000204815" } }, "GRch38": { "90": { "location": "17:41930635-41965651", "ensembl_id": "ENSG00000204815" } } }, "hgnc_date_symbol_changed": "2005-12-14" }, "entity_type": "gene", "entity_name": "TTC25", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27486780", "31765523", "33715250", "33746037", "34215651" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Ciliary dyskinesia, primary, 35 (MIM#617092)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC13040" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28188", "gene_name": "chromosome 11 open reading frame 70", "omim_gene": null, "alias_name": null, "gene_symbol": "C11orf70", "hgnc_symbol": "C11orf70", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:101918174-101955291", "ensembl_id": "ENSG00000137691" } }, "GRch38": { "90": { "location": "11:102047443-102084560", "ensembl_id": "ENSG00000137691" } } }, "hgnc_date_symbol_changed": "2006-03-31" }, "entity_type": "gene", "entity_name": "C11orf70", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 29727693", "29727692" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Ciliary dyskinesia, primary, 38\t618063" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.", "status": "public", "version": "1.75", "version_created": "2026-03-30T10:17:46.701193+11:00", "relevant_disorders": [ "Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32743" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26530", "gene_name": "cilia and flagella associated protein 53", "omim_gene": [ "614759" ], "alias_name": null, "gene_symbol": "CFAP53", "hgnc_symbol": "CFAP53", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:47753563-47792892", "ensembl_id": "ENSG00000172361" } }, "GRch38": { "90": { "location": "18:50227193-50266522", "ensembl_id": "ENSG00000172361" } } }, "hgnc_date_symbol_changed": "2014-09-03" }, "entity_type": "gene", "entity_name": "CFAP53", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID:28621423", "22577226", "26531781" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Heterotaxy, visceral, 6, autosomal recessive 614779" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 82, "hash_id": null, "name": "Ciliary Dyskinesia", "disease_group": "Respiratory disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS. It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. 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}, "transcript": null }, { "gene_data": { "alias": [ "FLJ10637", "NET48", "Mat89Bb", "SPATA30" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20174", "gene_name": "integrator complex subunit 13", "omim_gene": [ "615079" ], "alias_name": [ "spermatogenesis associated 30", "integrator complex subunit 13" ], "gene_symbol": "INTS13", "hgnc_symbol": "INTS13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:27058114-27091259", "ensembl_id": "ENSG00000064102" } }, "GRch38": { "90": { "location": "12:26905181-26938326", "ensembl_id": "ENSG00000064102" } } }, "hgnc_date_symbol_changed": "2016-12-15" }, "entity_type": "gene", "entity_name": "INTS13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36229431" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Oral-facial-digital syndrome, MONDO:0015375, INTS13-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or 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"MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp686L20145", "RPH11", "RAB11BP", "SYM-4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30512", "gene_name": "WD repeat domain 44", "omim_gene": null, "alias_name": null, "gene_symbol": "WDR44", "hgnc_symbol": "WDR44", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:117480036-117583924", "ensembl_id": "ENSG00000131725" } }, "GRch38": { "90": { "location": "X:118346073-118449961", "ensembl_id": "ENSG00000131725" } } }, 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"HGNC:16519", "gene_name": "RAB34, member RAS oncogene family", "omim_gene": [ "610917" ], "alias_name": [ "nine-amino acid residue-repeats" ], "gene_symbol": "RAB34", "hgnc_symbol": "RAB34", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:27041299-27045447", "ensembl_id": "ENSG00000109113" } }, "GRch38": { "90": { "location": "17:28714281-28718429", "ensembl_id": "ENSG00000109113" } } }, "hgnc_date_symbol_changed": "2001-09-14" }, "entity_type": "gene", "entity_name": "RAB34", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37619988", "PMID: 37384395" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Orofaciodigital syndrome 20, MIM#620718" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "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" ], "phenotypes": [ "Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22688", "Fy" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26219", "gene_name": "fuzzy planar cell polarity protein", "omim_gene": [ "610622" ], "alias_name": null, "gene_symbol": "FUZ", "hgnc_symbol": "FUZ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:50310126-50320633", "ensembl_id": "ENSG00000010361" } }, "GRch38": { "90": { "location": "19:49806869-49817376", "ensembl_id": "ENSG00000010361" } } }, "hgnc_date_symbol_changed": "2006-06-21" }, "entity_type": "gene", "entity_name": "FUZ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38702430, 29068549, 34719684" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ciliopathy_MONDO_0005308, FUZ-related", "skeletal ciliopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9529", "gene_name": "protein serine kinase H1", "omim_gene": [ "177015" ], "alias_name": null, "gene_symbol": "PSKH1", "hgnc_symbol": "PSKH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67927175-67963581", "ensembl_id": "ENSG00000159792" } }, "GRch38": { "90": { "location": "16:67893272-67929678", "ensembl_id": "ENSG00000159792" } } }, "hgnc_date_symbol_changed": "1993-08-04" }, "entity_type": "gene", "entity_name": "PSKH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39132680" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cholestasis, progressive 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"version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10147", "HIPPI", "MHS4R2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17367", "gene_name": "intraflagellar transport 57", "omim_gene": [ "606621" ], "alias_name": null, "gene_symbol": "IFT57", "hgnc_symbol": "IFT57", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:107879659-107941417", "ensembl_id": "ENSG00000114446" } }, 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smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "P-dlg", "KIAA0583" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2904", "gene_name": "discs large MAGUK scaffold protein 5", "omim_gene": [ "604090" ], "alias_name": null, "gene_symbol": "DLG5", "hgnc_symbol": "DLG5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:79550549-79686378", "ensembl_id": "ENSG00000151208" } }, "GRch38": { "90": { "location": "10:77790791-77926526", "ensembl_id": "ENSG00000151208" } } }, "hgnc_date_symbol_changed": "1999-02-23" }, "entity_type": "gene", "entity_name": "DLG5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32631816" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Yuksel-Vogel-Bauer syndrome, MIM#620703" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": 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"AHI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:135604670-135818914", "ensembl_id": "ENSG00000135541" } }, "GRch38": { "90": { "location": "6:135283532-135497776", "ensembl_id": "ENSG00000135541" } } }, "hgnc_date_symbol_changed": "2003-08-22" }, "entity_type": "gene", "entity_name": "AHI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15322546", "15467982", "16155189" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 3, MIM# 608629" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ActR-IIB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:174", "gene_name": "activin A receptor type 2B", "omim_gene": [ "602730" ], "alias_name": null, "gene_symbol": "ACVR2B", "hgnc_symbol": "ACVR2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:38495342-38534633", "ensembl_id": "ENSG00000114739" } }, "GRch38": { "90": { "location": "3:38453851-38493142", "ensembl_id": "ENSG00000114739" } } }, "hgnc_date_symbol_changed": "1997-03-19" }, "entity_type": "gene", "entity_name": "ACVR2B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9916847", "30622330", "21864452" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Heterotaxy, visceral, 4, autosomal 613751" ], 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"2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0328" ], "biotype": "protein_coding", "hgnc_id": "HGNC:428", "gene_name": "ALMS1, centrosome and basal body associated protein", "omim_gene": [ "606844" ], "alias_name": null, "gene_symbol": "ALMS1", "hgnc_symbol": "ALMS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:73612886-73837920", "ensembl_id": "ENSG00000116127" } }, "GRch38": { "90": { "location": "2:73385758-73610793", "ensembl_id": "ENSG00000116127" } } }, "hgnc_date_symbol_changed": "1998-10-12" }, "entity_type": "gene", "entity_name": "ALMS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Alstrom syndrome, MIM# 203800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.", "status": "public", "version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20345", "POC12", "BBS13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7121", "gene_name": "Meckel syndrome, type 1", "omim_gene": [ "609883" ], "alias_name": [ "POC12 centriolar protein homolog (Chlamydomonas)" ], "gene_symbol": "MKS1", "hgnc_symbol": "MKS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:56282803-56296966", "ensembl_id": "ENSG00000011143" } }, "GRch38": { "90": { "location": "17:58205437-58219605", "ensembl_id": "ENSG00000011143" } } }, "hgnc_date_symbol_changed": "1995-11-07" }, "entity_type": "gene", "entity_name": "MKS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17377820", "24886560", "19776033", "33193692", "27570071", "27377014", "18327255", "24608809" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 28, MIM# 617121", "MONDO:0014928", "Meckel syndrome 1, MIM# 249000", "MONDO:0009571", "Bardet-Biedl 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"version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7108", "gene_name": "McKusick-Kaufman syndrome", "omim_gene": [ "604896" ], "alias_name": null, "gene_symbol": "MKKS", "hgnc_symbol": "MKKS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:10381657-10414870", "ensembl_id": "ENSG00000125863" } }, "GRch38": { "90": { "location": "20:10401009-10434222", "ensembl_id": "ENSG00000125863" } } }, "hgnc_date_symbol_changed": "1998-09-08" }, "entity_type": "gene", "entity_name": "MKKS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10973251", "10802661", "26900326" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ciliopathy, MONDO:0005308, MKKS-related", "Bardet-Biedl syndrome 6 (MIM#605231)", "McKusick-Kaufman syndrome, MIM# 236700", "Retinitis pigmentosa" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": null, "name": "Ciliopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as 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"Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0760", "OAZ", "Roaz", "Ebfaz", "Zfp104", "NPHP14", "JBTS19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16762", "gene_name": "zinc finger protein 423", "omim_gene": [ "604557" ], "alias_name": [ "OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein" ], "gene_symbol": "ZNF423", "hgnc_symbol": "ZNF423", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:49521435-49891830", "ensembl_id": "ENSG00000102935" } }, "GRch38": { "90": { "location": "16:49487524-49857919", "ensembl_id": "ENSG00000102935" } } }, "hgnc_date_symbol_changed": "2004-04-06" }, "entity_type": "gene", "entity_name": "ZNF423", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22863007" ], "evidence": [ "Expert Review Amber", "Victorian Clinical 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"transcript": null }, { "gene_data": { "alias": [ "SUFUH", "SUFUXL", "PRO1280" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16466", "gene_name": "SUFU negative regulator of hedgehog signaling", "omim_gene": [ "607035" ], "alias_name": null, "gene_symbol": "SUFU", "hgnc_symbol": "SUFU", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:104263744-104393292", "ensembl_id": "ENSG00000107882" } }, "GRch38": { "90": { "location": "10:102503987-102633535", "ensembl_id": "ENSG00000107882" } } }, "hgnc_date_symbol_changed": "2001-08-28" }, "entity_type": "gene", "entity_name": "SUFU", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28965847", "33024317", "34675124" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 32, MIM#617757", "Neurodevelopmental disorder, MONDO:0700092, SUFU-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, 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[ "hCAP-1A", "FLJ30655" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26406", "gene_name": "sodium channel and clathrin linker 1", "omim_gene": [ "611399" ], "alias_name": null, "gene_symbol": "SCLT1", "hgnc_symbol": "SCLT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:129786076-130014764", "ensembl_id": "ENSG00000151466" } }, "GRch38": { "90": { "location": "4:128864921-129093607", "ensembl_id": "ENSG00000151466" } } }, "hgnc_date_symbol_changed": "2006-07-18" }, "entity_type": "gene", "entity_name": "SCLT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28486600", "30425282", "30237576", "28005958", "24285566" ], "evidence": [ "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Orofaciodigital syndrome type IX", "Senior-Loken syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": 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0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CGI-97", "FLJ10917", "SDS", "SWDS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19440", "gene_name": "SBDS, ribosome maturation factor", "omim_gene": [ "607444" ], "alias_name": null, "gene_symbol": "SBDS", "hgnc_symbol": "SBDS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:66452664-66460588", "ensembl_id": "ENSG00000126524" } }, "GRch38": { "90": { "location": "7:66987677-66995601", "ensembl_id": "ENSG00000126524" } } }, "hgnc_date_symbol_changed": "2003-07-02" }, "entity_type": "gene", 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"name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TUWD12", "FLJ14923" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30836", "gene_name": "POC1 centriolar protein B", "omim_gene": [ "614784" ], "alias_name": null, "gene_symbol": "POC1B", "hgnc_symbol": "POC1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:89813495-89919801", "ensembl_id": "ENSG00000139323" } }, "GRch38": { "90": { "location": "12:89419718-89526024", "ensembl_id": "ENSG00000139323" } } }, "hgnc_date_symbol_changed": "2010-03-26" }, "entity_type": "gene", "entity_name": "POC1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25018096", "24945461", "25044745", "29220607", "29377742" ], "evidence": [ "Expert Review Green", "Expert Review Red", "Expert list", "Victorian Clinical Genetics 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"version": "1.99", "version_created": "2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ARPKD", "FCYT", "FPC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9016", "gene_name": "PKHD1, fibrocystin/polyductin", "omim_gene": [ "606702" ], "alias_name": [ "tigmin", "polyductin", "fibrocystin", "fibrocystin/polyductin complex" ], "gene_symbol": "PKHD1", "hgnc_symbol": "PKHD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { 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"Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JBTS22" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8788", "gene_name": "phosphodiesterase 6D", "omim_gene": [ "602676" ], "alias_name": null, "gene_symbol": "PDE6D", "hgnc_symbol": "PDE6D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:232597135-232650982", "ensembl_id": "ENSG00000156973" } }, "GRch38": { "90": { "location": "2:231732425-231786272", "ensembl_id": "ENSG00000156973" } } }, "hgnc_date_symbol_changed": "1997-11-03" }, "entity_type": "gene", "entity_name": "PDE6D", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24166846", "30423442" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 22, OMIM #615665" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 84, "hash_id": 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0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SLSN4", "KIAA0673", "POC10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19104", "gene_name": "nephrocystin 4", "omim_gene": [ "607215" ], "alias_name": [ "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" ], "gene_symbol": "NPHP4", "hgnc_symbol": "NPHP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:5922871-6052533", "ensembl_id": "ENSG00000131697" } }, "GRch38": { "90": { "location": "1:5862811-5992473", "ensembl_id": "ENSG00000131697" } } }, 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"protein_coding", "hgnc_id": "HGNC:2567", "gene_name": "OFD1, centriole and centriolar satellite protein", "omim_gene": [ "300170" ], "alias_name": null, "gene_symbol": "OFD1", "hgnc_symbol": "OFD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:13752832-13787480", "ensembl_id": "ENSG00000046651" } }, "GRch38": { "90": { "location": "X:13734745-13769353", "ensembl_id": "ENSG00000046651" } } }, "hgnc_date_symbol_changed": "1998-10-01" }, "entity_type": "gene", "entity_name": "OFD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32276433", "31373179" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Retinitis pigmentosa 23, MIM# 300424", "Joubert syndrome 10, MIM# 300804", "Orofaciodigital syndrome I, MIM# 311200" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 84, "hash_id": 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0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NPH3", "KIAA2000", "FLJ30691", "FLJ36696", "MKS7", "SLSN3", "CFAP31" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7907", "gene_name": "nephrocystin 3", "omim_gene": [ "608002" ], "alias_name": [ "Meckel syndrome, type 7", "cilia and flagella associated protein 31" ], "gene_symbol": "NPHP3", "hgnc_symbol": "NPHP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:132276986-132441303", "ensembl_id": "ENSG00000113971" } }, "GRch38": { "90": { "location": "3:132680609-132722442", "ensembl_id": 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], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JBTS4", "SLSN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7905", "gene_name": "nephrocystin 1", "omim_gene": [ "607100" ], "alias_name": null, "gene_symbol": "NPHP1", "hgnc_symbol": "NPHP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:110879888-110962643", "ensembl_id": "ENSG00000144061" } }, "GRch38": { "90": { "location": "2:110122311-110205066", "ensembl_id": "ENSG00000144061" } } }, "hgnc_date_symbol_changed": "1991-08-08" }, "entity_type": "gene", "entity_name": "NPHP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15138899", "32139166", "28347285", "8852662", "9856524" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Joubert syndrome 4, MIM# 609583", "Nephronophthisis 1, juvenile, MIM# 256100", "Senior-Loken syndrome-1, 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"2026-02-26T20:47:06.255758+11:00", "relevant_disorders": [ "Ciliopathy", "MONDO:0005308" ], "stats": { "number_of_genes": 158, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7865", "gene_name": "nodal growth differentiation factor", "omim_gene": [ "601265" ], "alias_name": null, "gene_symbol": "NODAL", "hgnc_symbol": "NODAL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:72192071-72207707", "ensembl_id": "ENSG00000156574" } }, "GRch38": { "90": { "location": 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"biotype": "protein_coding", "hgnc_id": "HGNC:13387", "gene_name": "NIMA related kinase 8", "omim_gene": [ "609799" ], "alias_name": null, "gene_symbol": "NEK8", "hgnc_symbol": "NEK8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:27052915-27070473", "ensembl_id": "ENSG00000160602" } }, "GRch38": { "90": { "location": "17:28725897-28743455", "ensembl_id": "ENSG00000160602" } } }, "hgnc_date_symbol_changed": "2004-10-20" }, "entity_type": "gene", "entity_name": "NEK8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33131162", "23418306", "26862157", "26697755", "26967905", "23274954", "31633649" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Renal-hepatic-pancreatic dysplasia 2, MIM# 615415", "MONDO:0014174", "Polycystic kidney disease 8, MIM# 620903" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], 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