{ "url": "https://dantelabs.com/sv/genes/gins1", "gene": { "slug": "gins1", "symbol": "GINS1", "name": "GINS complex subunit 1", "hgnc": "HGNC:28980", "summary": null, "location": "20p11.21", "locusType": "gene with protein product", "aliases": [ "KIAA0186", "PSF1" ], "previousSymbols": [], "ensemblId": "ENSG00000101003", "entrezId": 9837, "omim": [ "610608" ], "uniprot": [ "Q14691" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 25407673, "end": 25448563, "strand": "+", "ensemblTranscript": "ENST00000262460.5", "refseqTranscript": "NM_021067.5", "ensemblProtein": "ENSP00000262460.4", "refseqProtein": "NP_066545.3", "exons": [ { "start": 25407673, "end": 25407895 }, { "start": 25413790, "end": 25413854 }, { "start": 25417104, "end": 25417202 }, { "start": 25418105, "end": 25418195 }, { "start": 25425211, "end": 25425327 }, { "start": 25441702, "end": 25441776 }, { "start": 25445923, "end": 25448563 } ], "cds": { "start": 25407821, "end": 25445991 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "20", "start": 25388363, "end": 25433264, "strand": "+" }, "neighbourhood": { "release": "116", "start": 24928118, "end": 25928117, "genes": [ { "symbol": "CST7", "ensemblId": "ENSG00000077984", "biotype": "protein_coding", "start": 24949257, "end": 24961392, "strand": "+", "slug": "cst7" }, { "symbol": "APMAP", "ensemblId": "ENSG00000101474", "biotype": "protein_coding", "start": 24962924, "end": 24992784, "strand": "-", "slug": "apmap" }, { "symbol": "ACSS1", "ensemblId": "ENSG00000154930", "biotype": "protein_coding", "start": 25003364, "end": 25058980, "strand": "-", "slug": "acss1" }, { "symbol": "VSX1", "ensemblId": "ENSG00000100987", "biotype": "protein_coding", "start": 25069941, "end": 25082141, "strand": "-", "slug": "vsx1" }, { "symbol": "ENTPD6", "ensemblId": "ENSG00000197586", "biotype": "protein_coding", "start": 25195693, "end": 25228075, "strand": "+", "slug": "entpd6" }, { "symbol": "PYGB", "ensemblId": 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eller defekt i immunförsvarets mekanismer, antingen cellulära eller humorala.", "management": "HSCT vid SCID och allvarliga PID; immunglobulinersättning (IVIG/SCIG) vid antikroppsbrist; leniolisib (Joenja, FDA 2023) vid APDS; genterapi vid ADA-SCID; abatacept vid CTLA4- och LRBA-brist; profylaktiska antibiotika; G-CSF vid CGD", "evidence": { "gencc": [ "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-natural-killer-cells", "name": "Absent natural killer cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-natural-killer-cells" }, { "slug": "decreased-total-lymphocyte-count", "name": "Decreased blood lymphocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "eczematoid-dermatitis", "name": "Eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eczematoid-dermatitis" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "ichthyosis", "name": "Ichthyosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ichthyosis" }, { "slug": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "myelodysplasia", "name": "Myelodysplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myelodysplasia" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "recurrent-skin-infections", "name": "Recurrent skin infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/recurrent-skin-infections" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lymphadenopathy" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 1, "url": "https://dantelabs.com/sv/genes/ada" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 1, "url": "https://dantelabs.com/sv/genes/aicda" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/ak2" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/sv/genes/arpc1b" }, { "slug": "arpc5", "symbol": "ARPC5", "name": "actin related protein 2/3 complex subunit 5", "shared": 1, "url": "https://dantelabs.com/sv/genes/arpc5" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/sv/genes/atm" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/atp6ap1" }, { "slug": "b2m", "symbol": "B2M", "name": "beta-2-microglobulin", "shared": 1, "url": "https://dantelabs.com/sv/genes/b2m" }, { "slug": "bach2", "symbol": "BACH2", "name": "BACH transcriptional regulator 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/bach2" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 1, "url": "https://dantelabs.com/sv/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 1, "url": "https://dantelabs.com/sv/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 1, "url": "https://dantelabs.com/sv/genes/blnk" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }