{ "url": "https://dantelabs.com/da/genes/wipf1", "gene": { "slug": "wipf1", "symbol": "WIPF1", "name": "WAS/WASL interacting protein family member 1", "hgnc": "HGNC:12736", "summary": null, "location": "2q31.1", "locusType": "gene with protein product", "aliases": [ "WIP" ], "previousSymbols": [ "WASPIP" ], "ensemblId": "ENSG00000115935", "entrezId": 7456, "omim": [ "602357" ], "uniprot": [ "O43516" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 174559574, "end": 174597804, "strand": "-", "ensemblTranscript": "ENST00000679041.1", "refseqTranscript": "NM_001375834.1", "ensemblProtein": "ENSP00000503603.1", "refseqProtein": "NP_001362763.1", "exons": [ { "start": 174559574, "end": 174562602 }, { "start": 174567070, "end": 174567183 }, { "start": 174567861, "end": 174568073 }, { "start": 174571676, "end": 174572446 }, { "start": 174575204, "end": 174575380 }, { "start": 174581310, "end": 174581439 }, { "start": 174585523, "end": 174585611 }, { "start": 174597601, "end": 174597804 } ], "cds": { "start": 174562547, "end": 174585573 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 175424300, "end": 175547644, "strand": "-" }, "neighbourhood": { "release": "116", "start": 174078689, "end": 175078688, "genes": [ { "symbol": "OLA1", "ensemblId": "ENSG00000138430", "biotype": "protein_coding", "start": 174072447, "end": 174248661, "strand": "-", "slug": "ola1" }, { "symbol": "SP9", "ensemblId": "ENSG00000217236", "biotype": "protein_coding", "start": 174334948, "end": 174338707, "strand": "+", "slug": "sp9" }, { "symbol": "CIRSR", "ensemblId": "ENSG00000138433", "biotype": "protein_coding", "start": 174346961, "end": 174395712, "strand": "-", "slug": "cirsr" }, { "symbol": "SCRN3", "ensemblId": "ENSG00000144306", "biotype": "protein_coding", "start": 174395724, "end": 174432340, "strand": "+", "slug": "scrn3" }, { "symbol": "GPR155", "ensemblId": "ENSG00000163328", "biotype": "protein_coding", "start": 174431571, "end": 174487150, "strand": "-", "slug": "gpr155" }, { "symbol": "CHRNA1", "ensemblId": "ENSG00000138435", "biotype": "protein_coding", "start": 174747592, "end": 174787935, "strand": "-", "slug": "chrna1" }, { "symbol": "CHN1", "ensemblId": "ENSG00000128656", "biotype": "protein_coding", "start": 174797579, "end": 175005405, "strand": "-", "slug": "chn1" }, { "symbol": "ATF2", "ensemblId": "ENSG00000115966", "biotype": "protein_coding", "start": 175072250, "end": 175168382, "strand": "-", "slug": "atf2" } ], "truncated": false }, "reports": [ { "slug": "wiskott-aldrich-syndrome", "name": "Wiskott-Aldrich-syndromspektret", "diseases": [ { "mondoId": "MONDO:0013779", "name": "Wiskott-Aldrich-syndrom 2 (WIPF1)", "genes": 1, "inheritance": "autosomal-recessive", "description": "Et Wiskott-Aldrich-lignende syndrom med lave blodplader, eksem og immundefekt forårsaget af ændringer i begge kopier af WIPF1.", "management": "Behandlingen svarer til klassisk Wiskott-Aldrich-syndrom, herunder overvejelse af stamcelletransplantation.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/da/conditions/wiskott-aldrich-syndrome" }, { "slug": "immunodeficiency-disease", "name": "Andre medfødte immunsvigt", "diseases": [ { "mondoId": "MONDO:0021094", "name": "Immunsvigtsygdom", "genes": 170, "inheritance": null, "description": "Sygdom, hvor der er mangel på eller defekt i immunforsvarets mekanismer, enten cellulære eller humorale.", "management": "HSCT ved SCID og alvorlige PID'er; immunglobulinbehandling (IVIG/SCIG) ved antistofmangel; leniolisib (Joenja, FDA 2023) ved APDS; genterapi ved ADA-SCID; abatacept ved CTLA4-/LRBA-mangel; profylaktiske antibiotika; G-CSF ved CGD", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/da/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-natural-killer-cell-physiology", "name": "Abnormal natural killer cell physiology", "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/abnormal-natural-killer-cell-physiology" }, { "slug": "abnormal-t-cell-proliferation", "name": "Abnormal T cell proliferation", "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/abnormal-t-cell-proliferation" }, { "slug": "decreased-total-cd8-t-cell-proportion", "name": "Decreased total CD8+ T cell proportion", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-cd8-t-cell-proportion" }, { "slug": "eczematoid-dermatitis", "name": "Eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/eczematoid-dermatitis" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-infections" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 1, "url": "https://dantelabs.com/da/genes/ada" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 1, "url": "https://dantelabs.com/da/genes/aicda" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 1, "url": "https://dantelabs.com/da/genes/ak2" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/da/genes/arpc1b" }, { "slug": "arpc5", "symbol": "ARPC5", "name": "actin related protein 2/3 complex subunit 5", "shared": 1, "url": "https://dantelabs.com/da/genes/arpc5" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/da/genes/atm" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/da/genes/atp6ap1" }, { "slug": "b2m", "symbol": "B2M", "name": "beta-2-microglobulin", "shared": 1, "url": "https://dantelabs.com/da/genes/b2m" }, { "slug": "bach2", "symbol": "BACH2", "name": "BACH transcriptional regulator 2", "shared": 1, "url": "https://dantelabs.com/da/genes/bach2" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 1, "url": "https://dantelabs.com/da/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 1, "url": "https://dantelabs.com/da/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 1, "url": "https://dantelabs.com/da/genes/blnk" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }