{ "url": "https://dantelabs.com/no/genes/igll1", "gene": { "slug": "igll1", "symbol": "IGLL1", "name": "immunoglobulin lambda like polypeptide 1", "hgnc": "HGNC:5870", "summary": null, "location": "22q11.23", "locusType": "gene with protein product", "aliases": [ "IGVPB", "IGL5", "14.1", "CD179B" ], "previousSymbols": [ "IGLL" ], "ensemblId": "ENSG00000128322", "entrezId": 3543, "omim": [ "146770" ], "uniprot": [ "P15814" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "22", "start": 23573125, "end": 23580290, "strand": "-", "ensemblTranscript": "ENST00000330377.3", "refseqTranscript": "NM_020070.4", "ensemblProtein": "ENSP00000329312.2", "refseqProtein": "NP_064455.1", "exons": [ { "start": 23573125, "end": 23573585 }, { "start": 23574967, "end": 23575082 }, { "start": 23579985, "end": 23580290 } ], "cds": { "start": 23573266, "end": 23580190 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "22", "start": 23915312, "end": 23922495, "strand": "-" }, 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"protein_coding", "start": 23834503, "end": 23839131, "strand": "-", "slug": "derl3" }, { "symbol": "SLC2A11", "ensemblId": "ENSG00000133460", "biotype": "protein_coding", "start": 23856703, "end": 23886312, "strand": "+", "slug": "slc2a11" }, { "symbol": "", "ensemblId": "ENSG00000251357", "biotype": "protein_coding", "start": 23862188, "end": 23895223, "strand": "+" }, { "symbol": "DDT", "ensemblId": "ENSG00000099977", "biotype": "protein_coding", "start": 23891180, "end": 23980544, "strand": "-", "slug": "ddt" }, { "symbol": "MIF", "ensemblId": "ENSG00000240972", "biotype": "protein_coding", "start": 23894372, "end": 23895227, "strand": "+", "slug": "mif" }, { "symbol": "GSTT2B", "ensemblId": "ENSG00000133433", "biotype": "protein_coding", "start": 23957414, "end": 23961341, "strand": "-", "slug": "gstt2b" }, { "symbol": "DDTL", "ensemblId": "ENSG00000099974", "biotype": "protein_coding", "start": 23966881, "end": 23972558, "strand": "+", "slug": "ddtl" }, { "symbol": "GSTT2", "ensemblId": "ENSG00000099984", "biotype": "protein_coding", "start": 23980058, "end": 23983915, "strand": "+", "slug": "gstt2" }, { "symbol": "GSTT4", "ensemblId": "ENSG00000276950", "biotype": "protein_coding", "start": 23998397, "end": 24005453, "strand": "-", "slug": "gstt4" }, { "symbol": "CABIN1", "ensemblId": "ENSG00000099991", "biotype": "protein_coding", "start": 24011192, "end": 24178634, "strand": "+", "slug": "cabin1" } ], "truncated": false }, "reports": [ { "slug": "agammaglobulinemia", "name": "Agammaglobulinemi (XLA og autosomale former)", "diseases": [ { "mondoId": "MONDO:0011096", "name": "Autosomal agammaglobulinemi", "genes": 7, "inheritance": null, "description": "Fravær eller svært få B-celler forårsaket av endringer i gener i B-celle-reseptorveien, som IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 og TCF3.", "management": "Livslang immunglobulinerstatning, rask behandling av infeksjoner og unngåelse av levende vaksiner forebygger de fleste alvorlige komplikasjonene.", "evidence": { "gencc": [ "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/no/conditions/agammaglobulinemia" }, { "slug": "immunodeficiency-disease", "name": "Andre medfødte immunsviktsykdommer", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Medfødt immunsviktsykdom", "genes": 114, "inheritance": null, "description": "Arvelige sykdommer i immunsystemet forårsaket av endringer i enkeltgener, som påvirker hvordan kroppen bekjemper infeksjoner eller regulerer betennelse.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "Immunsviktsykdom", "genes": 170, "inheritance": null, "description": "Sykdom der det finnes en mangel eller defekt i immunforsvarsmekanismene, enten cellulære eller humorale.", "management": "HSCT ved SCID og alvorlige PID; immunglobulinerstatning (IVIG/SCIG) ved antistoffmangel; leniolisib (Joenja, FDA 2023) ved APDS; genterapi ved ADA-SCID; abatacept ved CTLA4- og LRBA-mangel; profylaktiske antibiotika; G-CSF ved CGD", "evidence": { "gencc": [ "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/no/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "absent-circulating-b-cells", "name": "Absent circulating B cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-circulating-b-cells" }, { "slug": "agammaglobulinemia", "name": "Agammaglobulinemia", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/agammaglobulinemia" }, { "slug": "arthritis", "name": "Arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arthritis" }, { "slug": "cellulitis", "name": "Bacterial infection of skin", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cellulitis" }, { "slug": "osteomyelitis", "name": "Bone infection", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteomyelitis" }, { "slug": "chronic-otitis-media", "name": "Chronic infections of the middle ear", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chronic-otitis-media" }, { "slug": "cough", "name": "Cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cough" }, { "slug": "decreased-circulating-iga-concentration", "name": "Decreased circulating IgA concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration" }, { "slug": "decreased-circulating-igm-concentration", "name": "Decreased circulating IgM concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration" }, { "slug": "immunodeficiency", "name": "Decreased immune function", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/immunodeficiency" }, { "slug": "dehydration", "name": "Dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dehydration" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sepsis" }, { "slug": "hepatitis", "name": "Liver inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatitis" }, { "slug": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "meningitis", "name": "Meningitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/meningitis" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "conjunctivitis", "name": "Pink eye", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/conjunctivitis" }, { "slug": "recurrent-bacterial-infections", "name": "Recurrent bacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-bacterial-infections" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "recurrent-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-otitis-media" }, { "slug": "recurrent-pneumonia", "name": "Recurrent pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/recurrent-pneumonia" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "recurrent-skin-infections", "name": "Recurrent skin infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/recurrent-skin-infections" }, { "slug": "sinusitis", "name": "Sinus disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sinusitis" }, { "slug": "skin-rash", "name": "Skin rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skin-rash" }, { "slug": "verrucae", "name": "Warts", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/verrucae" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 3, "url": "https://dantelabs.com/no/genes/blnk" }, { "slug": "cd79a", "symbol": "CD79A", "name": "CD79a molecule", "shared": 3, "url": "https://dantelabs.com/no/genes/cd79a" }, { "slug": "cd79b", "symbol": "CD79B", "name": "CD79b molecule", "shared": 3, "url": "https://dantelabs.com/no/genes/cd79b" }, { "slug": "ighm", "symbol": "IGHM", "name": "immunoglobulin heavy constant mu", "shared": 3, "url": "https://dantelabs.com/no/genes/ighm" }, { "slug": "pik3r1", "symbol": "PIK3R1", "name": "phosphoinositide-3-kinase regulatory subunit 1", "shared": 3, "url": "https://dantelabs.com/no/genes/pik3r1" }, { "slug": "tcf3", "symbol": "TCF3", "name": "transcription factor 3", "shared": 3, "url": "https://dantelabs.com/no/genes/tcf3" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/no/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/no/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/no/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/no/genes/bcl11b" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/no/genes/btk" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 2, "url": "https://dantelabs.com/no/genes/c1qa" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }