{ "url": "https://dantelabs.com/nl/genes/hoxa11", "gene": { "slug": "hoxa11", "symbol": "HOXA11", "name": "homeobox A11", "hgnc": "HGNC:5101", "summary": null, "location": "7p15.2", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "HOX1I", "HOX1" ], "ensemblId": "ENSG00000005073", "entrezId": 3207, "omim": [ "142958" ], "uniprot": [ "P31270" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 27181157, "end": 27185232, "strand": "-", "ensemblTranscript": "ENST00000006015.4", "refseqTranscript": "NM_005523.6", "ensemblProtein": "ENSP00000006015.3", "refseqProtein": "NP_005514.1", "exons": [ { "start": 27181157, "end": 27183028 }, { "start": 27184436, "end": 27185232 } ], "cds": { "start": 27182796, "end": 27185144 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 27221129, "end": 27224842, "strand": "-" }, "neighbourhood": { "release": "116", "start": 26683195, "end": 27683194, "genes": [ { "symbol": "SKAP2", "ensemblId": "ENSG00000005020", "biotype": "protein_coding", "start": 26667003, "end": 26995239, "strand": "-", "slug": "skap2" }, { "symbol": "HOXA1", "ensemblId": "ENSG00000105991", "biotype": "protein_coding", "start": 27092993, "end": 27096039, "strand": "-", "slug": "hoxa1" }, { "symbol": "HOXA2", "ensemblId": "ENSG00000105996", "biotype": "protein_coding", "start": 27099978, "end": 27102686, "strand": "-", "slug": "hoxa2" }, { "symbol": "HOXA3", "ensemblId": "ENSG00000105997", "biotype": "protein_coding", "start": 27106184, "end": 27152610, "strand": "-", "slug": "hoxa3" }, { "symbol": "HOXA4", "ensemblId": "ENSG00000197576", "biotype": "protein_coding", "start": 27127887, "end": 27130780, "strand": "-", "slug": "hoxa4" }, { "symbol": "HOXA5", "ensemblId": "ENSG00000106004", "biotype": "protein_coding", "start": 27141052, "end": 27143719, "strand": "-", "slug": "hoxa5" }, { "symbol": "HOXA6", "ensemblId": "ENSG00000106006", "biotype": "protein_coding", "start": 27144103, "end": 27150603, "strand": "-", "slug": "hoxa6" }, { "symbol": "HOXA7", "ensemblId": "ENSG00000122592", "biotype": "protein_coding", "start": 27153716, "end": 27157936, "strand": "-", "slug": "hoxa7" }, { "symbol": "HOXA9", "ensemblId": "ENSG00000078399", "biotype": "protein_coding", "start": 27162438, "end": 27175180, "strand": "-", "slug": "hoxa9" }, { "symbol": "HOXA10-HOXA9", "ensemblId": "ENSG00000257184", "biotype": "protein_coding", "start": 27162438, "end": 27180239, "strand": "-", "slug": "hoxa10-hoxa9" }, { "symbol": "HOXA10", "ensemblId": "ENSG00000253293", "biotype": "protein_coding", "start": 27170592, "end": 27180261, "strand": "-", "slug": "hoxa10" }, { "symbol": "HOXA13", "ensemblId": "ENSG00000106031", "biotype": "protein_coding", "start": 27193503, "end": 27200091, "strand": "-", "slug": "hoxa13" }, { "symbol": "EVX1", "ensemblId": "ENSG00000106038", "biotype": "protein_coding", "start": 27242700, "end": 27250493, "strand": "+", "slug": "evx1" }, { "symbol": "HIBADH", "ensemblId": "ENSG00000106049", "biotype": "protein_coding", "start": 27486365, "end": 27663013, "strand": "-", "slug": "hibadh" } ], "truncated": false }, "reports": [ { "slug": "inherited-thrombocytopenias", "name": "Erfelijke trombocytopenieën", "diseases": [ { "mondoId": "MONDO:0100241", "name": "Erfelijke trombocytopenie", "genes": 33, "inheritance": null, "description": "Een groep aandoeningen die een levenslang laag aantal bloedplaatjes veroorzaken, gekoppeld aan genen zoals MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 en MECOM, en overgedragen via een dominant, recessief of X-gebonden patroon.", "management": "Een genetische diagnose voorkomt een verkeerde diagnose van immuuntrombocytopenie, met onnodige behandeling met steroïden of verwijdering van de milt, en stuurt de controles op verwante nier-, gehoor- of bloedproblemen.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/inherited-thrombocytopenias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "hip-dysplasia", "name": "Abnormal formation of the hip", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hip-dysplasia" }, { "slug": "amegakaryocytic-thrombocytopenia", "name": "Amegakaryocytic thrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/amegakaryocytic-thrombocytopenia" }, { "slug": "aplastic-anemia", "name": "Aplastic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/aplastic-anemia" }, { "slug": "purpura", "name": "Blood spots", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/purpura" }, { "slug": "radial-bowing", "name": "Bowing of outer large bone of the forearm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/radial-bowing" }, { "slug": "congenital-thrombocytopenia", "name": "Congenital thrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/congenital-thrombocytopenia" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "ulnar-bowing", "name": "Curving of inner forearm bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/ulnar-bowing" }, { "slug": "finger-syndactyly", "name": "Finger syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/finger-syndactyly" }, { "slug": "radioulnar-synostosis", "name": "Fused forearm bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/radioulnar-synostosis" }, { "slug": "hip-dislocation", "name": "Hip dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hip-dislocation" }, { "slug": "limited-pronation-supination-of-forearm", "name": "Limited pronation/supination of forearm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/limited-pronation-supination-of-forearm" }, { "slug": "megakaryocytopenia", "name": "Megakaryocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/megakaryocytopenia" }, { "slug": "petechiae", "name": "Petechiae", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/petechiae" }, { "slug": "proximal-radio-ulnar-synostosis", "name": "Proximal radio-ulnar synostosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/proximal-radio-ulnar-synostosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "shallow-acetabular-fossae", "name": "Shallow acetabular fossae", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/shallow-acetabular-fossae" }, { "slug": "syndactyly", "name": "Webbed fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/syndactyly" } ], "related": [ { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/nl/genes/actb" }, { "slug": "actn1", "symbol": "ACTN1", "name": "actinin alpha 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/actn1" }, { "slug": "adamts13", "symbol": "ADAMTS13", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13", "shared": 1, "url": "https://dantelabs.com/nl/genes/adamts13" }, { "slug": "ankrd26", "symbol": "ANKRD26", "name": "ankyrin repeat domain 26", "shared": 1, "url": "https://dantelabs.com/nl/genes/ankrd26" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/nl/genes/arpc1b" }, { "slug": "cdc42", "symbol": "CDC42", "name": "cell division cycle 42", "shared": 1, "url": "https://dantelabs.com/nl/genes/cdc42" }, { "slug": "cycs", "symbol": "CYCS", "name": "cytochrome c, somatic", "shared": 1, "url": "https://dantelabs.com/nl/genes/cycs" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/diaph1" }, { "slug": "etv6", "symbol": "ETV6", "name": "ETS variant transcription factor 6", "shared": 1, "url": "https://dantelabs.com/nl/genes/etv6" }, { "slug": "fli1", "symbol": "FLI1", "name": "Fli-1 proto-oncogene, ETS transcription factor", "shared": 1, "url": "https://dantelabs.com/nl/genes/fli1" }, { "slug": "fyb1", "symbol": "FYB1", "name": "FYN binding protein 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/fyb1" }, { "slug": "gale", "symbol": "GALE", "name": "UDP-galactose-4-epimerase", "shared": 1, "url": "https://dantelabs.com/nl/genes/gale" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }