Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=2
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"description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "CDS1", "CHK2", "HuCds1", "PP1425", "bA444G7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16627", "gene_name": "checkpoint kinase 2", "omim_gene": [ "604373" ], "alias_name": null, "gene_symbol": "CHEK2", "hgnc_symbol": "CHEK2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "22:29083731-29138410", "ensembl_id": "ENSG00000183765" } }, "GRch38": { "90": { "location": "22:28687743-28742422", "ensembl_id": "ENSG00000183765" } } }, "hgnc_date_symbol_changed": "2001-09-27" }, "entity_type": "gene", "entity_name": "CHEK2", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "26074382" ], "evidence": [ "Literature" ], "phenotypes": [ "{Prostate cancer, familial, susceptibility to}" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 318, "hash_id": "5763f2bf8f620350a1996047", "name": "Familial prostate cancer", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.3", "version_created": "2022-04-04T14:14:50.815532Z", "relevant_disorders": [], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10530", "HPC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14198", "gene_name": "elaC ribonuclease Z 2", "omim_gene": [ "605367" ], "alias_name": [ "tRNase Z (long form)" ], "gene_symbol": "ELAC2", "hgnc_symbol": "ELAC2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "17:12895708-12921504", "ensembl_id": "ENSG00000006744" } }, "GRch38": { "90": { "location": "17:12992391-13018187", "ensembl_id": "ENSG00000006744" } } }, "hgnc_date_symbol_changed": "2000-12-14" }, 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"number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "TEF2", "BTBD32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11254", "gene_name": "speckle type BTB/POZ protein", "omim_gene": [ "602650" ], "alias_name": null, "gene_symbol": "SPOP", "hgnc_symbol": "SPOP", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "17:47676246-47755596", "ensembl_id": "ENSG00000121067" } }, "GRch38": { "90": { "location": "17:49598884-49678234", "ensembl_id": "ENSG00000121067" } } }, "hgnc_date_symbol_changed": "1998-09-07" }, "entity_type": "gene", "entity_name": "SPOP", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Other" ], "phenotypes": [ "prostate cancer" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 318, "hash_id": "5763f2bf8f620350a1996047", "name": "Familial prostate cancer", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.3", "version_created": "2022-04-04T14:14:50.815532Z", "relevant_disorders": [], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "SCARA1", "CD204", "SR-AI", "SR-AII", "SR-AIII", "SR-A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7376", "gene_name": "macrophage scavenger receptor 1", "omim_gene": [ "153622" ], "alias_name": null, "gene_symbol": "MSR1", "hgnc_symbol": "MSR1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "8:15965387-16424999", "ensembl_id": "ENSG00000038945" } }, "GRch38": { "90": { "location": "8:16107878-16567490", "ensembl_id": "ENSG00000038945" } } }, "hgnc_date_symbol_changed": "1991-08-07" }, "entity_type": "gene", "entity_name": "MSR1", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "12244320", "12244320", "12958598 - found no association and the variant reported in PMID:12244320 has been reclassified", "27084275", "26225686 - no association with another variant found in meta-analysis", "28031937" ], "evidence": [ "Other" ], "phenotypes": [ "Prostate cancer, hereditary" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 318, "hash_id": "5763f2bf8f620350a1996047", "name": "Familial prostate cancer", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.3", "version_created": "2022-04-04T14:14:50.815532Z", "relevant_disorders": [], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "G7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7328", "gene_name": "mutS homolog 5", "omim_gene": [ "603382" ], "alias_name": null, "gene_symbol": "MSH5", "hgnc_symbol": "MSH5", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "6:31707725-31732622", "ensembl_id": "ENSG00000204410" } }, "GRch38": { "90": { "location": "6:31739948-31762834", "ensembl_id": "ENSG00000204410" } } }, "hgnc_date_symbol_changed": "1998-03-10" }, "entity_type": "gene", "entity_name": "MSH5", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "26964030" ], "evidence": [ "Literature" ], "phenotypes": [ "prostate cancer susceptibility" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 318, "hash_id": "5763f2bf8f620350a1996047", "name": "Familial prostate cancer", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.3", "version_created": "2022-04-04T14:14:50.815532Z", "relevant_disorders": [], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ21816", "FANCN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26144", "gene_name": "partner and localizer of BRCA2", "omim_gene": [ "610355" ], "alias_name": [ "Fanconi anemia, complementation group N" ], "gene_symbol": "PALB2", "hgnc_symbol": "PALB2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "16:23614488-23652631", "ensembl_id": "ENSG00000083093" } }, "GRch38": { "90": { "location": "16:23603160-23641310", "ensembl_id": "ENSG00000083093" } } }, "hgnc_date_symbol_changed": "2007-01-15" }, "entity_type": "gene", "entity_name": "PALB2", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "26074382" ], "evidence": [ "Literature" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 318, "hash_id": "5763f2bf8f620350a1996047", "name": "Familial prostate cancer", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.3", "version_created": "2022-04-04T14:14:50.815532Z", "relevant_disorders": [], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7329", "gene_name": "mutS homolog 6", "omim_gene": [ "600678" ], "alias_name": null, "gene_symbol": "MSH6", "hgnc_symbol": "MSH6", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "2:47922669-48037240", "ensembl_id": "ENSG00000116062" } }, "GRch38": { "90": { "location": "2:47695530-47810101", "ensembl_id": "ENSG00000116062" } } }, "hgnc_date_symbol_changed": "1995-08-29" }, "entity_type": "gene", "entity_name": "MSH6", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "27456091" ], "evidence": [ "Literature" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 318, "hash_id": "5763f2bf8f620350a1996047", "name": "Familial prostate cancer", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.3", "version_created": "2022-04-04T14:14:50.815532Z", "relevant_disorders": [], "stats": { "number_of_genes": 14, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9020", "gene_name": "pyruvate kinase L/R", "omim_gene": [ "609712" ], "alias_name": null, "gene_symbol": "PKLR", "hgnc_symbol": "PKLR", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:155259630-155271225", "ensembl_id": "ENSG00000143627" } }, "GRch38": { "90": { "location": "1:155289839-155301434", "ensembl_id": "ENSG00000143627" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PKLR", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "22274579", "9090535", "4160306", "14300761", "7426754" ], "evidence": [ "Literature" ], "phenotypes": [ "Adenosine triphosphate, elevated, of erythrocytes, OMIM:102900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 157, "hash_id": "58c7fba38f6203345887d4f5", "name": "Hereditary Erythrocytosis", "disease_group": "Haematological disorders", "disease_sub_group": "Anaemias and red cell disorders", "status": "public", "version": "2.6", "version_created": "2024-01-24T18:15:31.178499Z", "relevant_disorders": [ "R405" ], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp547M236", "ZnT-10", "ZRC1", "ZNT8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25355", "gene_name": "solute carrier family 30 member 10", "omim_gene": [ "611146" ], "alias_name": [ "zinc transporter 8" ], "gene_symbol": "SLC30A10", "hgnc_symbol": "SLC30A10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:219858769-220131989", "ensembl_id": "ENSG00000196660" } }, "GRch38": { "90": { "location": "1:219685427-219958647", "ensembl_id": "ENSG00000196660" } } }, "hgnc_date_symbol_changed": "2005-09-06" }, "entity_type": "gene", "entity_name": "SLC30A10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22341971", "22341972", "22926781", "22934317", "29193034", "29179235", "31288771", "32866815", "34849276", "34877518" ], "evidence": [ "NHS GMS", "Expert Review Green", "Literature" ], "phenotypes": [ "Hypermanganesemia with dystonia 1, OMIM:613280", "Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 157, "hash_id": "58c7fba38f6203345887d4f5", "name": "Hereditary Erythrocytosis", "disease_group": "Haematological disorders", "disease_sub_group": "Anaemias and red cell disorders", "status": "public", "version": "2.6", "version_created": "2024-01-24T18:15:31.178499Z", "relevant_disorders": [ "R405" ], "stats": { "number_of_genes": 17, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1093", "gene_name": "bisphosphoglycerate mutase", "omim_gene": [ "613896" ], "alias_name": null, "gene_symbol": "BPGM", "hgnc_symbol": "BPGM", 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