Gene Search List
Search Genes
GET /api/v1/genes/?format=api
{ "count": 34913, "next": "https://panelapp.genomicsengland.co.uk/api/v1/genes/?format=api&page=2", "previous": null, "results": [ { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7436", "gene_name": "methylenetetrahydrofolate reductase", "omim_gene": [ "607093" ], "alias_name": null, "gene_symbol": "MTHFR", "hgnc_symbol": "MTHFR", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:11845780-11866977", "ensembl_id": "ENSG00000177000" } }, "GRch38": { "90": { "location": "1:11785723-11806920", "ensembl_id": "ENSG00000177000" } } }, "hgnc_date_symbol_changed": "1994-07-15" }, "entity_type": "gene", "entity_name": "MTHFR", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "21555636", "27604308", "27604308" ], "evidence": [ "Illumina TruGenome Clinical Sequencing Services", "Emory Genetics Laboratory", "UKGTN", "Radboud University Medical Center, Nijmegen", "Expert Review 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TruGenome Clinical Sequencing Services", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Neurodegeneration due to cerebral folate transport deficiency, 613068" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 109, "hash_id": "55537918bb5a161bf644a3c7", "name": "Cerebral folate deficiency", "disease_group": "Metabolic disorders", "disease_sub_group": "Specific metabolic abnormalities", "status": "public", "version": "1.2", "version_created": "2017-11-05T02:37:20.047324Z", "relevant_disorders": [], "stats": { "number_of_genes": 4, "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": [ "HCP1", "MGC9564", "PCFT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30521", "gene_name": "solute carrier family 46 member 1", "omim_gene": [ "611672" ], "alias_name": [ "heme 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deficiency", "disease_group": "Metabolic disorders", "disease_sub_group": "Specific metabolic abnormalities", "status": "public", "version": "1.2", "version_created": "2017-11-05T02:37:20.047324Z", "relevant_disorders": [], "stats": { "number_of_genes": 4, "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": [ "PTS2R", "RD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8860", "gene_name": "peroxisomal biogenesis factor 7", "omim_gene": [ "601757" ], "alias_name": [ "Refsum disease" ], "gene_symbol": "PEX7", "hgnc_symbol": "PEX7", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "6:137143717-137235075", "ensembl_id": "ENSG00000112357" } }, "GRch38": { "90": { "location": "6:136822564-136913937", "ensembl_id": "ENSG00000112357" } } }, "hgnc_date_symbol_changed": "1997-05-22" }, "entity_type": "gene", "entity_name": "PEX7", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "UKGTN", "Illumina TruGenome Clinical Sequencing Services" ], "phenotypes": [ "Peroxisome biogenesis disorder 9B, OMIM:614879", "Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 30, "hash_id": "554a0ac9bb5a167e4ccd1ec0", "name": "Chondrodysplasia punctata", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "1.5", "version_created": "2021-09-07T14:17:08.166044Z", "relevant_disorders": [], "stats": { "number_of_genes": 6, "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": [ "MGC16824" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24641", "gene_name": "chromosome 16 open reading frame 62", "omim_gene": null, "alias_name": null, "gene_symbol": "C16orf62", "hgnc_symbol": "C16orf62", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:19566562-19718115", "ensembl_id": "ENSG00000103544" } }, "GRch38": { "90": { "location": "16:19555240-19706793", "ensembl_id": "ENSG00000103544" } } }, "hgnc_date_symbol_changed": "2007-10-22" }, "entity_type": "gene", "entity_name": "C16orf62", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31712251" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "3C/Ritscher-Schinzel-like syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new-gene-name" ], "panel": { "id": 30, "hash_id": "554a0ac9bb5a167e4ccd1ec0", "name": "Chondrodysplasia punctata", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "1.5", "version_created": "2021-09-07T14:17:08.166044Z", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": [] }, { "gene_data": { "alias": [ "CPX", "CPXD", "CHO2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3133", "gene_name": "emopamil binding protein (sterol isomerase)", "omim_gene": [ "300205" ], "alias_name": [ "3-beta-hydroxysteroid-delta-8,delta-7-isomerase", "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)", "sterol 8-isomerase" ], "gene_symbol": "EBP", "hgnc_symbol": "EBP", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "X:48379546-48387104", "ensembl_id": "ENSG00000147155" } }, "GRch38": { "90": { "location": "X:48521158-48528716", "ensembl_id": "ENSG00000147155" } } }, "hgnc_date_symbol_changed": "2000-02-21" }, "entity_type": "gene", "entity_name": "EBP", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "UKGTN" ], "phenotypes": [ "Chondrodysplasia punctata, X-linked dominant, 302960", "X-linked dominant chondrodysplasia punctata", "MEND syndrome" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 30, "hash_id": "554a0ac9bb5a167e4ccd1ec0", "name": "Chondrodysplasia punctata", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "1.5", "version_created": "2021-09-07T14:17:08.166044Z", "relevant_disorders": [], "stats": { "number_of_genes": 6, "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:719", "gene_name": "arylsulfatase E (chondrodysplasia punctata 1)", "omim_gene": [ "300180" ], "alias_name": null, "gene_symbol": "ARSE", "hgnc_symbol": "ARSE", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "X:2852699-2886286", "ensembl_id": "ENSG00000157399" } }, "GRch38": { "90": { "location": "X:2934632-2968310", "ensembl_id": "ENSG00000157399" } } }, "hgnc_date_symbol_changed": "1995-04-26" }, "entity_type": "gene", "entity_name": "ARSE", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "UKGTN" ], "phenotypes": [ "Chondrodysplasia punctata, X-linked recessive, 302950", "X-linked recessive chondrodysplasia punctata", "CHONDRODYSPLASIA PUNCTATA 1, X-LINKED" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "new-gene-name" ], "panel": { "id": 30, "hash_id": "554a0ac9bb5a167e4ccd1ec0", "name": "Chondrodysplasia punctata", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "1.5", "version_created": "2021-09-07T14:17:08.166044Z", "relevant_disorders": [], "stats": { "number_of_genes": 6, "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": [ "DHAPAT", "DAPAT", "DAP-AT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4416", "gene_name": "glyceronephosphate O-acyltransferase", "omim_gene": [ "602744" ], "alias_name": [ "glycerone-phosphate O-acyltransferase", "dihydroxyacetone phosphate acyltransferase" ], "gene_symbol": "GNPAT", "hgnc_symbol": "GNPAT", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "1:231376953-231413719", "ensembl_id": "ENSG00000116906" } }, "GRch38": { "90": { "location": "1:231241207-231277973", "ensembl_id": "ENSG00000116906" } } }, "hgnc_date_symbol_changed": "1998-10-29" }, "entity_type": "gene", "entity_name": "GNPAT", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Radboud University Medical Center, Nijmegen", "Illumina TruGenome Clinical Sequencing Services" ], "phenotypes": [ "Rhizomelic Chondrodysplasia Punctata", "Chondrodysplasia punctata, rhizomelic, type 2, 222765", "Rhizomelic chondrodysplasia punctata type 2" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 30, "hash_id": "554a0ac9bb5a167e4ccd1ec0", "name": "Chondrodysplasia punctata", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "1.5", "version_created": "2021-09-07T14:17:08.166044Z", "relevant_disorders": [], "stats": { "number_of_genes": 6, "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": [ "ADHAPS", "ADAS", "ALDHPSY", "ADPS", "ADAP-S" ], "biotype": "protein_coding", "hgnc_id": "HGNC:327", "gene_name": "alkylglycerone phosphate synthase", "omim_gene": [ "603051" ], "alias_name": null, "gene_symbol": "AGPS", "hgnc_symbol": "AGPS", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "2:178257372-178408564", "ensembl_id": "ENSG00000018510" } }, "GRch38": { "90": { "location": "2:177392644-177559299", "ensembl_id": "ENSG00000018510" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "AGPS", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "UKGTN", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Rhizomelic chondrodysplasia punctata, type 3, 600121" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 30, "hash_id": "554a0ac9bb5a167e4ccd1ec0", "name": "Chondrodysplasia punctata", "disease_group": "Skeletal disorders", "disease_sub_group": "Skeletal dysplasias", "status": "public", "version": "1.5", "version_created": "2021-09-07T14:17:08.166044Z", "relevant_disorders": [], "stats": { "number_of_genes": 6, "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": [ "tuberin", "LAM", "PPP1R160" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12363", "gene_name": "TSC complex subunit 2", "omim_gene": [ "191092" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 160" ], "gene_symbol": "TSC2", "hgnc_symbol": "TSC2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "16:2097466-2138716", "ensembl_id": "ENSG00000103197" } }, "GRch38": { "90": { "location": "16:2047465-2088720", "ensembl_id": "ENSG00000103197" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "TSC2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "PMID: 17304050" ], "evidence": [ "Expert Review Green", "Eligibility statement prior genetic testing", "UKGTN", "Emory Genetics Laboratory", "Illumina TruGenome Clinical Sequencing Services", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Tuberous sclerosis-2, 613254", "Tuberous Sclerosis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT 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