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GET /api/v1/entities/?format=api&page=325
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"confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "26010696", "24566826" ], "evidence": [ "Literature" ], "phenotypes": [ "Spinocerebellar ataxia 34\t133190" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 215, "hash_id": "562f5e7822c1fc582756e3bb", "name": "Palmoplantar keratoderma and erythrokeratodermas", "disease_group": "Dermatological disorders", "disease_sub_group": "Keratodermas", "status": "public", "version": "1.31", "version_created": "2024-01-24T16:59:44.858626Z", "relevant_disorders": [], "stats": { "number_of_genes": 46, "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": [ "KIAA1518" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29300", "gene_name": "KN motif and ankyrin repeat domains 2", "omim_gene": [ "614610" ], "alias_name": null, "gene_symbol": "KANK2", "hgnc_symbol": "KANK2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "19:11274943-11308467", "ensembl_id": "ENSG00000197256" } }, "GRch38": { "90": { "location": "19:11164267-11197791", "ensembl_id": "ENSG00000197256" } } }, "hgnc_date_symbol_changed": "2008-01-29" }, "entity_type": "gene", "entity_name": "KANK2", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "24671081" ], "evidence": [ "Expert Review Red", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "PPKWH", "Palmoplantar keratoderma and woolly hair, 616099" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 215, "hash_id": "562f5e7822c1fc582756e3bb", "name": "Palmoplantar keratoderma and erythrokeratodermas", "disease_group": "Dermatological disorders", "disease_sub_group": "Keratodermas", "status": "public", "version": "1.31", "version_created": "2024-01-24T16:59:44.858626Z", "relevant_disorders": [], "stats": { "number_of_genes": 46, "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": [ "HSPC014", "UMP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20330", "gene_name": "proteasome maturation protein", "omim_gene": [ "613386" ], "alias_name": [ "proteassemblin" ], "gene_symbol": "POMP", "hgnc_symbol": "POMP", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "13:29233241-29253062", "ensembl_id": "ENSG00000132963" } }, "GRch38": { "90": { "location": "13:28659104-28678925", "ensembl_id": "ENSG00000132963" } } }, "hgnc_date_symbol_changed": "2006-07-04" }, "entity_type": "gene", "entity_name": "POMP", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", 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for rare disease", "disease_group": "Tumour syndromes", "disease_sub_group": "Tumour syndromes", "status": "public", "version": "1.18", "version_created": "2024-04-26T11:04:52.991385Z", "relevant_disorders": [], "stats": { "number_of_genes": 89, "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": [ "AIP1", "ARIP1", "KIAA0705", "ACVRIP1", "MAGI-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18957", "gene_name": "membrane associated guanylate kinase, WW and PDZ domain containing 2", "omim_gene": [ "606382" ], "alias_name": null, "gene_symbol": "MAGI2", "hgnc_symbol": "MAGI2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "7:77646393-79082890", "ensembl_id": "ENSG00000187391" } }, "GRch38": { "90": { "location": "7:78017057-79453574", "ensembl_id": "ENSG00000187391" } } }, "hgnc_date_symbol_changed": "2005-05-10" }, "entity_type": "gene", "entity_name": "MAGI2", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "21143118" ], "evidence": [ "Literature" ], "phenotypes": [ "Celiac Disease", "IBD", "IBD" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 33, "hash_id": "56ba026422c1fc5025762b4f", "name": "Gastrointestinal epithelial barrier disorders", "disease_group": "Gastroenterological disorders", "disease_sub_group": "Gastrointestinal disorders", "status": "public", "version": "1.75", "version_created": "2024-04-02T14:17:05.871791Z", "relevant_disorders": [], "stats": { "number_of_genes": 83, "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": [ "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": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25778823", "29193034", "27117033", "29179235" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypermanganesemia with dystonia 1, OMIM:613280" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8864", "gene_name": "complement factor properdin", "omim_gene": [ "300383" ], "alias_name": null, "gene_symbol": "CFP", "hgnc_symbol": "CFP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:47483612-47489704", "ensembl_id": "ENSG00000126759" } }, "GRch38": { "90": { "location": "X:47623172-47630305", "ensembl_id": "ENSG00000126759" } } }, "hgnc_date_symbol_changed": "2006-03-02" }, "entity_type": "gene", "entity_name": "CFP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22229731", "10909851", "8530058", "7151327", "6903190" ], "evidence": [ "IUIS Classification February 2018", "London North GLH", "NHS GMS", "GRID V2.0", "Victorian Clinical Genetics Services", "North West GLH", "ESID Registry 20171117", "Expert Review Green", "NHS GMS", "North West GLH", "London North GLH", "IUIS Classification February 2018", "Victorian Clinical Genetics Services", "Expert Review Green", "ESID Registry 20171117", "GRID V2.0" ], "phenotypes": [ "Neisserial infections", "Complement Deficiencies", "Properdin deficiency", "Properdin P factor complement deficiency (PFC)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "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": [ "AIP4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13890", "gene_name": "itchy E3 ubiquitin protein ligase", "omim_gene": [ "606409" ], "alias_name": null, "gene_symbol": "ITCH", "hgnc_symbol": "ITCH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:32951041-33099198", "ensembl_id": "ENSG00000078747" } }, "GRch38": { "90": { "location": "20:34363235-34511393", "ensembl_id": "ENSG00000078747" } } }, "hgnc_date_symbol_changed": "2001-04-27" }, "entity_type": "gene", "entity_name": "ITCH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26854353", "27322655", "20962770", "19592251", "20170897" ], "evidence": [ "IUIS Classification February 2018", "London North GLH", "NHS GMS", "GRID V2.0", "Victorian Clinical Genetics Services", "North West GLH", "ESID Registry 20171117", "Expert Review Green", "NHS GMS", "North West GLH", "London North GLH", "Expert Review Green", "IUIS Classification February 2018", "Victorian Clinical Genetics Services", "ESID Registry 20171117", "GRID V2.0" ], "phenotypes": [ "Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features", "Diseases of Immune Dysregulation", "Autoimmune disease, multisystem, with facial dysmorphism, 613385", "Syndromic multisystem autoimmune disease due to Itch deficiency", "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)" ], "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": [ "HRG4", "POC7", "POC7A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12565", "gene_name": "unc-119 lipid binding chaperone", "omim_gene": [ "604011" ], "alias_name": [ "POC7 centriolar protein homolog A (Chlamydomonas)" ], "gene_symbol": "UNC119", "hgnc_symbol": "UNC119", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:26873725-26879686", "ensembl_id": "ENSG00000109103" } }, "GRch38": { "90": { "location": "17:28546707-28552668", "ensembl_id": "ENSG00000109103" } } }, "hgnc_date_symbol_changed": "1999-01-29" }, "entity_type": "gene", "entity_name": "UNC119", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22184408" ], "evidence": [ "GRID V2.0", "ESID Registry 20171117", "Expert Review Red", "Expert Review Red", "ESID Registry 20171117", "GRID V2.0" ], "phenotypes": [ "Immunodeficiency 13 615518", "Combined immunodeficiency", "Immunodeficiency 13/ UNC119 deficiency" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "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": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7765", "gene_name": "neurofibromin 1", "omim_gene": [ "613113" ], "alias_name": [ "neurofibromatosis", "von Recklinghausen disease", "Watson disease" ], "gene_symbol": "NF1", "hgnc_symbol": "NF1", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "17:29421945-29709134", "ensembl_id": "ENSG00000196712" } }, "GRch38": { "90": { "location": "17:31094927-31382116", "ensembl_id": "ENSG00000196712" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "NF1", "confidence_level": "2", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "10754001" ], "evidence": [ "Expert Review Amber", "Yorkshire and North East GLH", "NHS GMS", "Expert list" ], "phenotypes": [ "Moyamoya disease, MONDO:0016820", "Neurofibromatosis, type 1, OMIM:162200" ], "mode_of_inheritance": "MONOALLELIC, 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"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": [ "B37" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3033", "gene_name": "atrophin 1", "omim_gene": [ "607462" ], "alias_name": null, "gene_symbol": "ATN1", "hgnc_symbol": "ATN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7033626-7051484", "ensembl_id": "ENSG00000111676" } }, "GRch38": { "90": { "location": "12:6924463-6942321", "ensembl_id": "ENSG00000111676" } } }, "hgnc_date_symbol_changed": "2005-03-17" }, "entity_type": "str", "entity_name": "ATN1_CAG", "confidence_level": "2", "penetrance": null, "publications": [ "20301664", "8136840", "20301664", "8136840", "8136826", "7614090" ], "evidence": [ "NHS GMS", "Expert Review Amber", "Expert list" ], "phenotypes": [ "Dentatorubral-pallidoluysian atrophy, OMIM:125370" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAG", "chromosome": "12", "grch37_coordinates": [ 7045880, 7045936 ], "grch38_coordinates": [ 6936717, 6936772 ], "normal_repeats": 36, "pathogenic_repeats": 48, "tags": [ "watchlist", "STR" ], "panel": { "id": 477, "hash_id": null, "name": "Ataxia and cerebellar anomalies - narrow panel", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "5.3", "version_created": "2024-05-02T11:50:03.702368Z", "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." } ] } }, { "gene_data": { "alias": [ "KIAA0838", "GLS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4331", "gene_name": "glutaminase", "omim_gene": [ "138280" ], "alias_name": null, "gene_symbol": "GLS", "hgnc_symbol": "GLS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:191745553-191830278", "ensembl_id": "ENSG00000115419" } }, "GRch38": { "90": { "location": "2:190880827-190965552", "ensembl_id": "ENSG00000115419" } } }, "hgnc_date_symbol_changed": "1989-02-07" }, "entity_type": "str", "entity_name": "GLS_GCA", "confidence_level": "1", "penetrance": null, "publications": [ "30970188" 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X and sequencing", "Intellectual disability - microarray and sequencing", "R29" ], "stats": { "number_of_genes": 2686, "number_of_strs": 12, "number_of_regions": 65 }, "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." } ] } } ] }