Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=241
{ "count": 35535, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=242", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=240", "results": [ { "gene_data": { "alias": [ "CGI-121", "CGI121" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24259", "gene_name": "TP53RK binding protein", "omim_gene": [ "608680" ], "alias_name": null, "gene_symbol": "TPRKB", "hgnc_symbol": "TPRKB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:73956231-73964527", "ensembl_id": "ENSG00000144034" } }, "GRch38": { "90": { "location": "2:73729104-73737400", "ensembl_id": "ENSG00000144034" } } }, "hgnc_date_symbol_changed": "2006-02-02" }, "entity_type": "gene", "entity_name": "TPRKB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28805828", "30053862" ], "evidence": [ "Expert Review" ], "phenotypes": [ "Galloway-Mowat syndrome 5, MIM# 617731" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10305", "ArPIKfyve" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25507", "gene_name": "Vac14, PIKFYVE complex component", "omim_gene": [ "604632" ], "alias_name": null, "gene_symbol": "VAC14", "hgnc_symbol": "VAC14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:70721342-70835064", "ensembl_id": "ENSG00000103043" } }, "GRch38": { "90": { "location": "16:70687439-70801161", "ensembl_id": "ENSG00000103043" } } }, "hgnc_date_symbol_changed": "2005-02-09" }, "entity_type": "gene", "entity_name": "VAC14", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27292112", "31392254", "31591492", "31387860", "31876398" ], "evidence": [ "Expert Review" ], "phenotypes": [ "Striatonigral degeneration, childhood-onset, MIM#617054" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZP564F0923", "KIAA1471", "HD-PTP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14406", "gene_name": "protein tyrosine phosphatase, non-receptor type 23", "omim_gene": [ "606584" ], "alias_name": null, "gene_symbol": "PTPN23", "hgnc_symbol": "PTPN23", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:47422501-47454931", "ensembl_id": "ENSG00000076201" } }, "GRch38": { "90": { "location": "3:47381011-47413441", "ensembl_id": "ENSG00000076201" } } }, "hgnc_date_symbol_changed": "2001-02-15" }, "entity_type": "gene", "entity_name": "PTPN23", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31395947", "29899372", "29090338", "27848944", "25558065" ], "evidence": [ "Expert list" ], "phenotypes": [ "Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "P5CDh" ], "biotype": "protein_coding", "hgnc_id": "HGNC:406", "gene_name": "aldehyde dehydrogenase 4 family member A1", "omim_gene": [ "606811" ], "alias_name": null, "gene_symbol": "ALDH4A1", "hgnc_symbol": "ALDH4A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:19197926-19229275", "ensembl_id": "ENSG00000159423" } }, "GRch38": { "90": { "location": "1:18871430-18902781", "ensembl_id": "ENSG00000159423" } } }, "hgnc_date_symbol_changed": "1998-11-24" }, "entity_type": "gene", "entity_name": "ALDH4A1", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "9700195 34037900 31884946" ], "evidence": [ "Literature" ], "phenotypes": [], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NCS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28005", "gene_name": "cytosolic thiouridylase subunit 2", "omim_gene": [ "617057" ], "alias_name": null, "gene_symbol": "CTU2", "hgnc_symbol": "CTU2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:88772871-88781794", "ensembl_id": "ENSG00000174177" } }, "GRch38": { "90": { "location": "16:88706463-88715386", "ensembl_id": "ENSG00000174177" } } }, "hgnc_date_symbol_changed": "2009-08-19" }, "entity_type": "gene", "entity_name": "CTU2", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "(PMID: 26633546): (PMID: 27480277): (PMID: 31301155): (PMID: 8348206)" ], "evidence": [ "Literature" ], "phenotypes": [ "global developmental delay", "microcephaly", "growth restriction", "dysmorphism", "renal agenesis", "congenital heart defects, epilepsy, microphthalmia", "coloboma" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:177", "gene_name": "aminoacylase 1", "omim_gene": [ "104620" ], "alias_name": null, "gene_symbol": "ACY1", "hgnc_symbol": "ACY1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:52009066-52023213", "ensembl_id": "ENSG00000243989" } }, "GRch38": { "90": { "location": "3:51983278-51989202", "ensembl_id": "ENSG00000243989" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ACY1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16274666", "16465618", "17562838", "24117009" ], "evidence": [ "Expert Review" ], "phenotypes": [ "Aminoacylase 1 deficiency, MIM# 609924" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DXS1357E", "BAP31", "6C6-Ag", "CDM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16695", "gene_name": "B-cell receptor associated protein 31", "omim_gene": [ "300398" ], "alias_name": null, "gene_symbol": "BCAP31", "hgnc_symbol": "BCAP31", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:152965947-152990152", "ensembl_id": "ENSG00000185825" } }, "GRch38": { "90": { "location": "X:153700497-153724697", "ensembl_id": "ENSG00000185825" } } }, "hgnc_date_symbol_changed": "2003-12-22" }, "entity_type": "gene", "entity_name": "BCAP31", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24011989", "31330203", "33603160" ], "evidence": [ "Expert Review" ], "phenotypes": [ "Deafness, dystonia, and cerebral hypomyelination, MIM# 300475" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3139, "hash_id": null, "name": "Mackenzie's Mission_Reproductive Carrier Screening", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.", "status": "public", "version": "0.111", "version_created": "2025-11-21T16:50:54.555702+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1335, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "New South Wales Health Pathology", "slug": "new-south-wales-health-pathology", "description": "New South Wales Health Pathology" }, { "name": "PathWest", "slug": "pathwest", "description": "PathWest" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ22329" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26182", "gene_name": "collagen beta(1-O)galactosyltransferase 1", "omim_gene": [ "617531" ], "alias_name": [ "Procollagen galactosyltransferase", "Hydroxylysine galactosyltransferase" ], "gene_symbol": "COLGALT1", "hgnc_symbol": "COLGALT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:17666403-17693971", "ensembl_id": "ENSG00000130309" } }, "GRch38": { "90": { "location": "19:17555594-17583162", "ensembl_id": "ENSG00000130309" } } }, "hgnc_date_symbol_changed": "2013-02-27" }, "entity_type": "gene", "entity_name": "COLGALT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30412317", "33709034", "31759980" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Brain small vessel disease 3 MIM#618360" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3141, "hash_id": null, "name": "Stroke", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.", "status": "public", "version": "1.48", "version_created": "2026-03-31T17:20:59.161732+11:00", "relevant_disorders": [ "Stroke", "HP:0001297" ], "stats": { "number_of_genes": 75, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9251", "gene_name": "cathepsin A", "omim_gene": [ "613111" ], "alias_name": [ "carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase" ], "gene_symbol": "CTSA", "hgnc_symbol": "CTSA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:44518783-44527459", "ensembl_id": "ENSG00000064601" } }, "GRch38": { "90": { "location": "20:45890144-45898820", "ensembl_id": "ENSG00000064601" } } }, "hgnc_date_symbol_changed": "2006-12-05" }, "entity_type": "gene", "entity_name": "CTSA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27664989", "31177426", "23175731", "32842921", "31177426" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Brain small vessel disease 6 with leukoencephalopathy, MIM# 621394" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "founder" ], "panel": { "id": 3141, "hash_id": null, "name": "Stroke", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.", "status": "public", "version": "1.48", "version_created": "2026-03-31T17:20:59.161732+11:00", "relevant_disorders": [ "Stroke", "HP:0001297" ], "stats": { "number_of_genes": 75, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ22259", "DKFZp686I14213" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2203", "gene_name": "collagen type IV alpha 2 chain", "omim_gene": [ "120090" ], "alias_name": [ "canstatin", "collagen type IV alpha 2" ], "gene_symbol": "COL4A2", "hgnc_symbol": "COL4A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:110958159-111165374", "ensembl_id": "ENSG00000134871" } }, "GRch38": { "90": { "location": "13:110305812-110513027", "ensembl_id": "ENSG00000134871" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL4A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22209247", "30356112", "27794444" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3141, "hash_id": null, "name": "Stroke", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause conditions with stroke or stroke-like episodes. 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