{ "url": "https://dantelabs.com/nl/genes/nlrp1", "gene": { "slug": "nlrp1", "symbol": "NLRP1", "name": "NLR family pyrin domain containing 1", "hgnc": "HGNC:14374", "summary": null, "location": "17p13", "locusType": "gene with protein product", "aliases": [ "KIAA0926", "DKFZp586O1822", "CARD7", "NAC", "CLR17.1", "DEFCAP", "VAMAS1" ], "previousSymbols": [ "NALP1", "SLEV1" ], "ensemblId": "ENSG00000091592", "entrezId": 22861, "omim": [ "606636" ], "uniprot": [ "Q9C000" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 5514118, "end": 5584509, "strand": "-", "ensemblTranscript": "ENST00000572272.6", "refseqTranscript": "NM_033004.4", "ensemblProtein": "ENSP00000460475.1", "refseqProtein": "NP_127497.1", "exons": [ { "start": 5514118, "end": 5515073 }, { "start": 5515473, "end": 5515517 }, { "start": 5517746, "end": 5517887 }, { "start": 5520881, "end": 5521012 }, { "start": 5521524, "end": 5521786 }, { "start": 5530481, "end": 5530704 }, { "start": 5532822, "end": 5532984 }, { "start": 5533304, "end": 5533384 }, { "start": 5533897, "end": 5533988 }, { "start": 5536851, "end": 5536940 }, { "start": 5539415, "end": 5539585 }, { "start": 5541857, "end": 5542027 }, { "start": 5553386, "end": 5553556 }, { "start": 5558339, "end": 5560043 }, { "start": 5581859, "end": 5582062 }, { "start": 5582670, "end": 5582846 }, { "start": 5583687, "end": 5584509 } ], "cds": { "start": 5514754, "end": 5583957 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 5402747, "end": 5522744, "strand": "-" }, "neighbourhood": { "release": "116", "start": 5049314, "end": 6049313, "genes": [ { "symbol": "SLC52A1", "ensemblId": "ENSG00000132517", "biotype": "protein_coding", "start": 5032600, "end": 5052009, "strand": "-", "slug": "slc52a1" }, { "symbol": "ZFP3", "ensemblId": "ENSG00000180787", "biotype": "protein_coding", "start": 5078241, "end": 5096376, "strand": "+", "slug": "zfp3" }, { "symbol": "ZNF232", "ensemblId": "ENSG00000167840", "biotype": "protein_coding", "start": 5105269, "end": 5123162, "strand": "-", "slug": "znf232" }, { "symbol": "USP6", "ensemblId": "ENSG00000129204", "biotype": "protein_coding", "start": 5116032, "end": 5175034, "strand": "+", "slug": "usp6" }, { "symbol": "ZNF594", "ensemblId": "ENSG00000180626", "biotype": "protein_coding", "start": 5174019, "end": 5191907, "strand": "-", "slug": "znf594" }, { "symbol": "SCIMP", "ensemblId": "ENSG00000161929", "biotype": "protein_coding", "start": 5208915, "end": 5234869, "strand": "-", "slug": "scimp" }, { "symbol": "RABEP1", "ensemblId": "ENSG00000029725", "biotype": "protein_coding", "start": 5282258, "end": 5386871, "strand": "+", "slug": "rabep1" }, { "symbol": "NUP88", "ensemblId": "ENSG00000108559", "biotype": "protein_coding", "start": 5359641, "end": 5420164, "strand": "-", "slug": "nup88" }, { "symbol": "RPAIN", "ensemblId": "ENSG00000129197", "biotype": "protein_coding", "start": 5419066, "end": 5432888, "strand": "+", "slug": "rpain" }, { "symbol": "C1QBP", "ensemblId": "ENSG00000108561", "biotype": "protein_coding", "start": 5432625, "end": 5448830, "strand": "-", "slug": "c1qbp" }, { "symbol": "DHX33", "ensemblId": "ENSG00000005100", "biotype": "protein_coding", "start": 5440917, "end": 5469031, "strand": "-", "slug": "dhx33" }, { "symbol": "DERL2", "ensemblId": "ENSG00000072849", "biotype": "protein_coding", "start": 5471254, "end": 5486817, "strand": "-", "slug": "derl2" }, { "symbol": "MIS12", "ensemblId": "ENSG00000167842", "biotype": "protein_coding", "start": 5486285, "end": 5492080, "strand": "+", "slug": "mis12" }, { "symbol": "SMIM48", "ensemblId": "ENSG00000286190", "biotype": "protein_coding", "start": 5499427, "end": 5501013, "strand": "-", "slug": "smim48" }, { "symbol": "", "ensemblId": "ENSG00000285471", "biotype": "protein_coding", "start": 5772926, "end": 6080792, "strand": "+" } ], "truncated": false }, "reports": [ { "slug": "hereditary-corneal-dystrophies", "name": "Erfelijke hoornvliesdystrofieën", "diseases": [ { "mondoId": "MONDO:0018102", "name": "Hoornvliesdystrofie", "genes": 19, "inheritance": null, "description": "Een groep erfelijke aandoeningen die een of meer lagen van het hoornvlies aantasten, waaronder de endotheeldystrofie van Fuchs (vaak gekoppeld aan een expansie van een TCF4-repeat), TGFBI-gerelateerde granulaire en latticedystrofieën, en zeldzamere vormen die worden veroorzaakt door genen zoals SLC4A11, COL8A2, ZEB1 en CHST6.", "management": "Dragers van TGFBI-varianten wordt over het algemeen geadviseerd laserrefractiechirurgie (LASIK of PRK) te vermijden, omdat die de afzettingen kan verergeren. Een hoornvliestransplantatie kan het zicht herstellen bij gevorderde aandoening.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/hereditary-corneal-dystrophies" }, { "slug": "hereditary-palmoplantar-keratodermas", "name": "Erfelijke palmoplantaire keratodermieën en pachyonychia congenita", "diseases": [ { "mondoId": "MONDO:0019272", "name": "Erfelijke palmoplantaire keratodermie", "genes": 35, "inheritance": null, "description": "Erfelijke verdikking van de handpalmen en voetzolen, waaronder pachyonychia congenita, mal de Meleda, keratodermie van het Nagashima-type en Bothnische keratodermie, het keratitis-ichthyosis-doofheidssyndroom, en de met CTSC samenhangende Papillon-Lefèvre- en Haim-Munk-syndromen.", "management": "Een diagnose helpt bij de verzorging van de voeten en de behandeling van pijn; bij de met CTSC samenhangende vormen beschermt vroege tandheelkundige behandeling de tanden, en bij de met GJB2 samenhangende vormen is een gehoorcontrole aan te raden.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/hereditary-palmoplantar-keratodermas" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "amyloid-deposition", "name": "Amyloid deposition", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/amyloid-deposition" }, { "slug": "antinuclear-antibody-positivity", "name": "Antinuclear antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity" }, { "slug": "atrophodermia-vermiculata", "name": "Atrophodermia vermiculata", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/atrophodermia-vermiculata" }, { "slug": "autoimmune-hemolytic-anemia", "name": "Autoimmune hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia" }, { "slug": "vitiligo", "name": "Blotchy loss of skin color", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/vitiligo" }, { "slug": "carcinoma", "name": "Carcinoma", "systems": [ "neoplasm" ], "url": "https://dantelabs.com/traits/carcinoma" }, { "slug": "keratosis-pilaris", "name": "Chicken skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/keratosis-pilaris" }, { "slug": "chronic-rhinitis", "name": "Chronic rhinitis", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-rhinitis" }, { "slug": "cutaneous-macular-amyloidosis", "name": "Cutaneous macular amyloidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/cutaneous-macular-amyloidosis" }, { "slug": "keratoconjunctivitis-sicca", "name": "Dry eye syndrome", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/keratoconjunctivitis-sicca" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "ectodermal-dysplasia", "name": "Ectodermal dysplasia", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/ectodermal-dysplasia" }, { "slug": "elevated-circulating-c-reactive-protein-concentration", "name": "Elevated circulating C-reactive protein concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "recurrent-fever", "name": "Episodic fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-fever" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "follicular-hyperkeratosis", "name": "Follicular hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/follicular-hyperkeratosis" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hoarse-voice", "name": "Hoarse voice", "systems": [ "abnormality-of-the-voice" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hoarse-voice" }, { "slug": "increased-circulating-iga-concentration", "name": "Increased circulating IgA concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-iga-concentration" }, { "slug": "increased-circulating-igg-concentration", "name": "Increased circulating IgG concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-igg-concentration" }, { "slug": "finger-joint-hypermobility", "name": "Increased mobility in finger joint", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/finger-joint-hypermobility" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "laryngeal-papilloma", "name": "Laryngeal papilloma", "systems": [ "abnormality-of-the-respiratory-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/laryngeal-papilloma" }, { "slug": "limbal-stem-cell-deficiency", "name": "Limbal stem cell deficiency", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/limbal-stem-cell-deficiency" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "corneal-neovascularization", "name": "New blood vessel formation in cornea", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/corneal-neovascularization" }, { "slug": "parakeratosis", "name": "Parakeratosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/parakeratosis" }, { "slug": "polyarticular-arthritis", "name": "Polyarticular arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/polyarticular-arthritis" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "punctate-keratitis", "name": "Punctate keratitis", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/punctate-keratitis" }, { "slug": "severely-increased-total-eosinophil-count", "name": "Severely increased total eosinophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/severely-increased-total-eosinophil-count" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "squamous-cell-carcinoma", "name": "Squamous cell carcinoma", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "url": "https://dantelabs.com/traits/squamous-cell-carcinoma" }, { "slug": "palmoplantar-keratoderma", "name": "Thickening of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palmoplantar-keratoderma" }, { "slug": "palmoplantar-hyperkeratosis", "name": "Thickening of the outer layer of the skin of the palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis" }, { "slug": "epidermal-acanthosis", "name": "Thickening of upper layer of skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/epidermal-acanthosis" }, { "slug": "thyroiditis", "name": "Thyroid gland inflammation", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thyroiditis" }, { "slug": "uveitis", "name": "Uveitis", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/uveitis" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "grhl2", "symbol": "GRHL2", "name": "grainyhead like transcription factor 2", "shared": 2, "url": "https://dantelabs.com/nl/genes/grhl2" }, { "slug": "aagab", "symbol": "AAGAB", "name": "alpha and gamma adaptin binding protein", "shared": 1, "url": "https://dantelabs.com/nl/genes/aagab" }, { "slug": "ap1b1", "symbol": "AP1B1", "name": "adaptor related protein complex 1 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/ap1b1" }, { "slug": "aqp5", "symbol": "AQP5", "name": "aquaporin 5", "shared": 1, "url": "https://dantelabs.com/nl/genes/aqp5" }, { "slug": "chst6", "symbol": "CHST6", "name": "carbohydrate sulfotransferase 6", "shared": 1, "url": "https://dantelabs.com/nl/genes/chst6" }, { "slug": "col17a1", "symbol": "COL17A1", "name": "collagen type XVII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/nl/genes/col17a1" }, { "slug": "col8a2", "symbol": "COL8A2", "name": "collagen type VIII alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/nl/genes/col8a2" }, { "slug": "ctsc", "symbol": "CTSC", "name": "cathepsin C", "shared": 1, "url": "https://dantelabs.com/nl/genes/ctsc" }, { "slug": "dcn", "symbol": "DCN", "name": "decorin", "shared": 1, "url": "https://dantelabs.com/nl/genes/dcn" }, { "slug": "dsg1", "symbol": "DSG1", "name": "desmoglein 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/dsg1" }, { "slug": "dsp", "symbol": "DSP", "name": "desmoplakin", "shared": 1, "url": "https://dantelabs.com/nl/genes/dsp" }, { "slug": "gja1", "symbol": "GJA1", "name": "gap junction protein alpha 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/gja1" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }