Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=347
https://panelapp.genomicsengland.co.uk/api/v1/genes/?format=api&page=346", "results": [ { "gene_data": { "alias": [ "ACAD5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4189", "gene_name": "glutaryl-CoA dehydrogenase", "omim_gene": [ "608801" ], "alias_name": null, "gene_symbol": "GCDH", "hgnc_symbol": "GCDH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:13001840-13025021", "ensembl_id": "ENSG00000105607" } }, "GRch38": { "90": { "location": "19:12891026-12914207", "ensembl_id": "ENSG00000105607" } } }, "hgnc_date_symbol_changed": "1992-12-17" }, "entity_type": "gene", "entity_name": "GCDH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 1339, "hash_id": null, "name": "Glutaric acidaemia I", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.1", "version_created": "2023-09-14T13:21:20.288002Z", "relevant_disorders": [ "R275" ], "stats": { "number_of_genes": 1, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:9726", "gene_name": "glycogen phosphorylase, muscle associated", "omim_gene": [ "608455" ], "alias_name": [ "McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form", "myophosphorylase" ], "gene_symbol": "PYGM", "hgnc_symbol": "PYGM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64513861-64527769", "ensembl_id": "ENSG00000068976" } }, "GRch38": { "90": { "location": "11:64746389-64760297", "ensembl_id": "ENSG00000068976" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PYGM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 1340, "hash_id": null, "name": "Glycogen storage disease V", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.1", "version_created": "2023-09-14T13:23:59.650407Z", "relevant_disorders": [ "R273" ], "stats": { "number_of_genes": 1, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "EBP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4298", "gene_name": "galactosidase beta 1", "omim_gene": [ "611458" ], "alias_name": null, "gene_symbol": "GLB1", "hgnc_symbol": "GLB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:33038100-33138722", "ensembl_id": "ENSG00000170266" } }, "GRch38": { "90": { "location": "3:32996608-33097230", "ensembl_id": "ENSG00000170266" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "GLB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 1341, "hash_id": null, "name": "GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.1", "version_created": "2023-09-14T13:25:34.299435Z", "relevant_disorders": [ "R288" ], "stats": { "number_of_genes": 1, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "HBA-T3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4823", "gene_name": "hemoglobin subunit alpha 1", "omim_gene": [ "141800" ], "alias_name": null, "gene_symbol": "HBA1", "hgnc_symbol": "HBA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:226679-227521", "ensembl_id": "ENSG00000206172" } }, "GRch38": { "90": { "location": "16:176680-177522", "ensembl_id": "ENSG00000206172" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HBA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 1342, "hash_id": null, "name": "Haemoglobinopathy trait or carrier testing", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.9", "version_created": "2024-05-03T20:16:07.518410Z", "relevant_disorders": [ "R361" ], "stats": { "number_of_genes": 5, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "CD113t-C", "beta-globin" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4827", "gene_name": "hemoglobin subunit beta", "omim_gene": [ "141900" ], "alias_name": null, "gene_symbol": "HBB", "hgnc_symbol": "HBB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:5246694-5250625", "ensembl_id": "ENSG00000244734" } }, "GRch38": { "90": { "location": "11:5225464-5229395", "ensembl_id": "ENSG00000244734" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HBB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 1342, "hash_id": null, "name": "Haemoglobinopathy trait or carrier testing", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.9", "version_created": "2024-05-03T20:16:07.518410Z", "relevant_disorders": [ "R361" ], "stats": { "number_of_genes": 5, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "HBG-T2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4831", "gene_name": "hemoglobin subunit gamma 1", "omim_gene": [ "142200" ], "alias_name": null, "gene_symbol": "HBG1", "hgnc_symbol": "HBG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:5269313-5271122", "ensembl_id": "ENSG00000213934" } }, "GRch38": { "90": { "location": "11:5248083-5249892", "ensembl_id": "ENSG00000213934" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HBG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 1342, "hash_id": null, "name": "Haemoglobinopathy trait or carrier testing", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.9", "version_created": "2024-05-03T20:16:07.518410Z", "relevant_disorders": [ "R361" ], "stats": { "number_of_genes": 5, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [] }, { "gene_data": { "alias": [ "HBG-T1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4832", "gene_name": "hemoglobin subunit gamma 2", "omim_gene": [ "142250" ], "alias_name": null, "gene_symbol": "HBG2", "hgnc_symbol": "HBG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:5274420-5667019", "ensembl_id": "ENSG00000196565" } }, "GRch38": { "90": { "location": "11:5253190-5645789", "ensembl_id": "ENSG00000196565" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HBG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 1342, "hash_id": null, "name": "Haemoglobinopathy trait or carrier testing", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.9", "version_created": "2024-05-03T20:16:07.518410Z", "relevant_disorders": [ "R361" ], "stats": { "number_of_genes": 5, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [] }, { "gene_data": { "alias": [ "HBA-T2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4824", "gene_name": "hemoglobin subunit alpha 2", "omim_gene": [ "141850" ], "alias_name": null, "gene_symbol": "HBA2", "hgnc_symbol": "HBA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:222846-223709", "ensembl_id": "ENSG00000188536" } }, "GRch38": { "90": { "location": "16:172847-173710", "ensembl_id": "ENSG00000188536" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HBA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 1342, "hash_id": null, "name": "Haemoglobinopathy trait or carrier testing", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.9", "version_created": "2024-05-03T20:16:07.518410Z", "relevant_disorders": [ "R361" ], "stats": { "number_of_genes": 5, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [] }, { "gene_data": { "alias": [ "PFP", "P1", "HPLH2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9360", "gene_name": "perforin 1", "omim_gene": [ "170280" ], "alias_name": [ "Perforin", "perforin 1 (preforming protein)" ], "gene_symbol": "PRF1", "hgnc_symbol": "PRF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:72357104-72362531", "ensembl_id": "ENSG00000180644" } }, "GRch38": { "90": { "location": "10:70597348-70602775", "ensembl_id": "ENSG00000180644" } } }, "hgnc_date_symbol_changed": "1989-02-23" }, "entity_type": "gene", "entity_name": "PRF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 1343, "hash_id": null, "name": "Haemophagocytic syndrome with absent perforin expression", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.2", "version_created": "2023-11-06T15:56:22.916502Z", "relevant_disorders": [ "R232" ], "stats": { "number_of_genes": 1, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "hILP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:592", "gene_name": "X-linked inhibitor of apoptosis", "omim_gene": [ "300079" ], "alias_name": null, "gene_symbol": "XIAP", "hgnc_symbol": "XIAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:122993574-123047829", "ensembl_id": "ENSG00000101966" } }, "GRch38": { "90": { "location": "X:123859724-123913979", "ensembl_id": "ENSG00000101966" } } }, "hgnc_date_symbol_changed": "2008-03-04" }, "entity_type": "gene", "entity_name": "XIAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [], "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": 1344, "hash_id": null, "name": "Haemophagocytic syndrome with absent XIAP expression", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.1", "version_created": "2023-09-14T13:30:03.574365Z", "relevant_disorders": [ "R18" ], "stats": { "number_of_genes": 1, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "C1IN", "C1-INH", "HAE1", "HAE2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1228", "gene_name": "serpin family G member 1", "omim_gene": [ "606860" ], "alias_name": [ "plasma protease C1 inhibitor", "angioedema, hereditary" ], "gene_symbol": "SERPING1", "hgnc_symbol": "SERPING1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:57364860-57382326", "ensembl_id": "ENSG00000149131" } }, "GRch38": { "90": { "location": "11:57597387-57614853", "ensembl_id": "ENSG00000149131" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "SERPING1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 1345, "hash_id": null, "name": "Hereditary angioedema types I and II", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.1", "version_created": "2023-09-14T13:31:46.646543Z", "relevant_disorders": [ "R341" ], "stats": { "number_of_genes": 1, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "PTC", "CDHF12", "RET51", "CDHR16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9967", "gene_name": "ret proto-oncogene", "omim_gene": [ "164761" ], "alias_name": [ "cadherin-related family member 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"number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "IKK-gamma", "NEMO", "Fip3p", "FIP-3", "FIP3", "ZC2HC9" ], "biotype": null, "hgnc_id": "HGNC:5961", "gene_name": "inhibitor of nuclear factor kappa B kinase subunit gamma", "omim_gene": [ "300248" ], "alias_name": null, "gene_symbol": "IKBKG", "hgnc_symbol": "IKBKG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153769414-153796782", "ensembl_id": "ENSG00000073009" } }, "GRch38": { "90": { "location": "X:154541199-154565046", "ensembl_id": "ENSG00000269335" } } }, 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"previous": "