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{ "count": 35330, "next": "https://panelapp.genomicsengland.co.uk/api/v1/entities/?format=api&page=2", "previous": null, "results": [ { "gene_data": { "alias": [ "MGC32955", "CCP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27981", "gene_name": "ATP/GTP binding protein like 3", "omim_gene": [ "617346" ], "alias_name": null, "gene_symbol": "AGBL3", "hgnc_symbol": "AGBL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:134671259-134832715", "ensembl_id": "ENSG00000146856" } }, "GRch38": { "90": { "location": "7:134986508-135147963", "ensembl_id": "ENSG00000146856" } } }, "hgnc_date_symbol_changed": "2005-05-26" }, "entity_type": "gene", "entity_name": "AGBL3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30794780", "26769960" ], "evidence": [ "Literature" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)", 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] }, "transcript": null }, { "gene_data": { "alias": [ "FAD", "FAD1", "BRCC2", "XRCC11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1101", "gene_name": "BRCA2, DNA repair associated", "omim_gene": [ "600185" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 2" ], "gene_symbol": "BRCA2", "hgnc_symbol": "BRCA2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "13:32889611-32973805", "ensembl_id": "ENSG00000139618" } }, "GRch38": { "90": { "location": "13:32315474-32400266", "ensembl_id": "ENSG00000139618" } } }, "hgnc_date_symbol_changed": "1994-10-17" }, "entity_type": "gene", "entity_name": "BRCA2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "{Breast-ovarian cancer, familial, 2}, OMIM:612555", "{Breast cancer, male, susceptibility to}, OMIM:114480" ], "mode_of_inheritance": "MONOALLELIC, autosomal or 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[ "HNPCC", "HNPCC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7325", "gene_name": "mutS homolog 2", "omim_gene": [ "609309" ], "alias_name": null, "gene_symbol": "MSH2", "hgnc_symbol": "MSH2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "2:47630108-47789450", "ensembl_id": "ENSG00000095002" } }, "GRch38": { "90": { "location": "2:47402969-47562311", "ensembl_id": "ENSG00000095002" } } }, "hgnc_date_symbol_changed": "1993-07-28" }, "entity_type": "gene", "entity_name": "MSH2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Colorectal cancer" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 244, "hash_id": "596f84848f620352d0e3eeba", "name": "Colorectal cancer pertinent cancer susceptibility", "disease_group": "Cancer Programme", "disease_sub_group": "Pertinent cancer susceptibility gene panel", "status": "public", "version": "1.0", "version_created": "2017-11-05T02:37:20.290684Z", "relevant_disorders": [ "Colorectal" ], "stats": { "number_of_genes": 13, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Cancer Germline 100K", "slug": "cancer-germline-100k", "description": "Cancer Germline 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "CPAP", "BM032", "LAP", "LIP1", "Sas-4", "SASS4", "SCKL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17272", "gene_name": "centromere protein J", "omim_gene": [ "609279" ], "alias_name": [ "centrosomal P4.1-associated protein" ], "gene_symbol": "CENPJ", "hgnc_symbol": "CENPJ", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "13:25457171-25497018", "ensembl_id": "ENSG00000151849" } }, "GRch38": { "90": { "location": "13:24882284-24922889", "ensembl_id": "ENSG00000151849" } } }, 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"protein_coding", "hgnc_id": "HGNC:4392", "gene_name": "GNAS complex locus", "omim_gene": [ "139320" ], "alias_name": [ "secretogranin VI", "G protein subunit alpha S" ], "gene_symbol": "GNAS", "hgnc_symbol": "GNAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:57414773-57486247", "ensembl_id": "ENSG00000087460" } }, "GRch38": { "90": { "location": "20:58839718-58911192", "ensembl_id": "ENSG00000087460" } } }, "hgnc_date_symbol_changed": "2001-12-20" }, "entity_type": "gene", "entity_name": "GNAS", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other - please provide details in the comments", "publications": [ "10673080" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "McCune-Albright syndrome", "Cholestasis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 385, "hash_id": null, "name": "Neonatal cholestasis", "disease_group": "Gastroenterological disorders", "disease_sub_group": "Liver disease", "status": "public", "version": "1.26", "version_created": "2022-10-13T17:48:00.571148Z", "relevant_disorders": [], "stats": { "number_of_genes": 94, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "IL-23R" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19100", "gene_name": "interleukin 23 receptor", "omim_gene": [ "607562" ], "alias_name": null, "gene_symbol": "IL23R", "hgnc_symbol": "IL23R", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:67632083-67725662", "ensembl_id": "ENSG00000162594" } }, "GRch38": { "90": { "location": "1:67138907-67259979", "ensembl_id": "ENSG00000162594" } } }, "hgnc_date_symbol_changed": "2004-10-18" }, "entity_type": "gene", "entity_name": "IL23R", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32086639", "32048120" ], "evidence": [ "IUIS Classification December 2019", "Expert Review Green" ], "phenotypes": [ "Defects in intrinsic and innate immunity", "Mendelian susceptibility to mycobacterial disease", "IL-23R deficiency" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 111, "hash_id": "58c7fd7f8f6203413360f1b6", "name": "COVID-19 research", "disease_group": "Viral research", "disease_sub_group": "", "status": "public", "version": "1.142", "version_created": "2024-04-24T16:30:10.989811Z", "relevant_disorders": [ "Viral susceptibility" ], "stats": { "number_of_genes": 695, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "CARMQ1", "CHRMQ1", "VLDLRCH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12698", "gene_name": "very low density lipoprotein receptor", "omim_gene": [ "192977" ], "alias_name": null, "gene_symbol": "VLDLR", "hgnc_symbol": "VLDLR", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "9:2621834-2660053", "ensembl_id": "ENSG00000147852" } }, "GRch38": { "90": { "location": "9:2621834-2660053", "ensembl_id": "ENSG00000147852" } } }, "hgnc_date_symbol_changed": "1993-09-24" }, "entity_type": "gene", "entity_name": "VLDLR", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Yorkshire and North East GLH", "NHS GMS", "Expert Review Red", "UKGTN" ], "phenotypes": [ "Cerebral Malformation Disorders" ], "mode_of_inheritance": "", "tags": [], "panel": { "id": 147, "hash_id": "5819a24f8f6203341de99c89", "name": "Cerebral vascular malformations", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Cerebrovascular disorders", "status": "public", "version": "3.16", "version_created": "2024-04-24T16:23:20.959409Z", "relevant_disorders": [ "Cerebrovascular disorders", "Vein of Galen malformation", "Cerebral arteriovenous malformations", "Moyamoya disease", "R336" ], "stats": { "number_of_genes": 105, "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 Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "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": [ "CDHF5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3049", "gene_name": "desmoglein 2", "omim_gene": [ "125671" ], "alias_name": null, "gene_symbol": "DSG2", "hgnc_symbol": "DSG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:29078006-29128971", "ensembl_id": "ENSG00000046604" } }, "GRch38": { "90": { "location": "18:31498043-31549008", "ensembl_id": "ENSG00000046604" } } }, "hgnc_date_symbol_changed": "1991-11-15" }, "entity_type": "gene", "entity_name": "DSG2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red" ], "phenotypes": [ "Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB", "Striate keratoderma with woolly hair" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 555, "hash_id": null, "name": "Ichthyosis and erythrokeratoderma", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.28", "version_created": "2024-04-10T20:26:35.419194Z", "relevant_disorders": [ "R165" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 1 }, "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." }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." } ] }, "transcript": null }, { "gene_data": { "alias": [ "SYNE-1B", "KIAA0796", "8B", "Nesprin-1", "enaptin", "MYNE1", "CPG2", "dJ45H2.2", "SCAR8", "ARCA1", "Nesp1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17089", "gene_name": "spectrin repeat containing nuclear envelope protein 1", "omim_gene": [ "608441" ], "alias_name": [ "myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1" ], "gene_symbol": "SYNE1", "hgnc_symbol": "SYNE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:152442819-152958936", "ensembl_id": "ENSG00000131018" } }, "GRch38": { "90": { "location": "6:152121684-152637801", "ensembl_id": "ENSG00000131018" } } }, "hgnc_date_symbol_changed": "2003-02-19" }, "entity_type": "gene", "entity_name": "SYNE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743", "Autosomal recessive ataxia, Beauce type, MONDO:0012549" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 477, "hash_id": null, "name": "Ataxia and cerebellar anomalies - narrow panel", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.64", "version_created": "2024-04-23T13:36:12.679484Z", "relevant_disorders": [], "stats": { "number_of_genes": 295, "number_of_strs": 14, "number_of_regions": 4 }, "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": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "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": [ "PTX1", "POTX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9004", "gene_name": "paired like homeodomain 1", "omim_gene": [ "602149" ], "alias_name": null, 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384, "hash_id": null, "name": "Limb disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.23", "version_created": "2024-04-26T11:20:59.632453Z", "relevant_disorders": [], "stats": { "number_of_genes": 260, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "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." } ] }, 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{ "GRch37": { "82": { "location": "19:5823813-5828335", "ensembl_id": "ENSG00000171119" } }, "GRch38": { "90": { "location": "19:5823802-5828324", "ensembl_id": "ENSG00000171119" } } }, "hgnc_date_symbol_changed": "1997-05-15" }, "entity_type": "gene", "entity_name": "NRTN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28543993", "9700200", "21206993" ], "evidence": [ "Expert list" ], "phenotypes": [ "susceptibility to Hirschsprung disease" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 1217, "hash_id": null, "name": "Paediatric pseudo-obstruction syndrome", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.5", "version_created": "2023-10-26T10:51:14.464501Z", "relevant_disorders": [ "R438" ], "stats": { "number_of_genes": 55, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "GMS Rare Disease", "slug": 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