{ "url": "https://dantelabs.com/de/genes/hnrnpdl", "gene": { "slug": "hnrnpdl", "symbol": "HNRNPDL", "name": "heterogeneous nuclear ribonucleoprotein D like", "hgnc": "HGNC:5037", "summary": null, "location": "4q21.22", "locusType": "gene with protein product", "aliases": [ "JKTBP", "laAUF1" ], "previousSymbols": [ "HNRPDL", "LGMD1G" ], "ensemblId": "ENSG00000152795", "entrezId": 9987, "omim": [ "607137" ], "uniprot": [ "O14979" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 82422569, "end": 82430462, "strand": "-", "ensemblTranscript": "ENST00000295470.10", "refseqTranscript": "NM_031372.4", "ensemblProtein": "ENSP00000295470.5", "refseqProtein": "NP_112740.1", "exons": [ { "start": 82422569, "end": 82424883 }, { "start": 82426037, "end": 82426129 }, { "start": 82426463, "end": 82426633 }, { "start": 82427190, "end": 82427304 }, { "start": 82427433, "end": 82427564 }, { "start": 82428018, "end": 82428179 }, { "start": 82428278, "end": 82428446 }, { "start": 82429248, "end": 82430462 } ], "cds": { "start": 82426059, "end": 82429690 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "4", "start": 83343717, "end": 83351294, "strand": "-" }, "neighbourhood": { "release": "116", "start": 81926516, "end": 82926515, "genes": [ { "symbol": "RASGEF1B", "ensemblId": "ENSG00000138670", "biotype": "protein_coding", "start": 81426393, "end": 82044244, "strand": "-", "slug": "rasgef1b" }, { "symbol": "HNRNPD", "ensemblId": "ENSG00000138668", "biotype": "protein_coding", "start": 82350776, "end": 82374543, "strand": "-", "slug": "hnrnpd" }, { "symbol": "ENOPH1", "ensemblId": "ENSG00000145293", "biotype": "protein_coding", "start": 82430357, "end": 82462153, "strand": "+", "slug": "enoph1" }, { "symbol": "TMEM150C", "ensemblId": "ENSG00000249242", "biotype": "protein_coding", "start": 82483170, "end": 82562357, "strand": "-", "slug": "tmem150c" }, { "symbol": "SCD5", "ensemblId": "ENSG00000145284", "biotype": "protein_coding", "start": 82629539, "end": 82799109, "strand": "-", "slug": "scd5" }, { "symbol": "SEC31A", "ensemblId": "ENSG00000138674", "biotype": "protein_coding", "start": 82817500, "end": 82901166, "strand": "-", "slug": "sec31a" }, { "symbol": "THAP9", "ensemblId": "ENSG00000168152", "biotype": "protein_coding", "start": 82900684, "end": 82920287, "strand": "+", "slug": "thap9" }, { "symbol": "LIN54", "ensemblId": "ENSG00000189308", "biotype": "protein_coding", "start": 82909973, "end": 83012991, "strand": "-", "slug": "lin54" } ], "truncated": false }, "reports": [ { "slug": "limb-girdle-muscular-dystrophy", "name": "Gliedergürtel-Muskeldystrophie", "diseases": [ { "mondoId": "MONDO:0016971", "name": "Gliedergürtel-Muskeldystrophie", "genes": 33, "inheritance": null, "description": "Die Gliedergürtel-Muskeldystrophie umfasst eine Reihe verschiedener Subtypen mit unterschiedlichen Vererbungsmustern (wobei auch die diagnostische Aussagekraft variiert). Personen, bei denen mit der Erkrankung assoziierte Varianten festgestellt wurden, sollten sich für eine gesicherte Diagnose an eine Fachärztin oder einen Facharzt für Muskel- und Skeletterkrankungen wenden.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/de/conditions/limb-girdle-muscular-dystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/cataract" }, { "slug": "decreased-movement-range-in-interphalangeal-joints", "name": "Decreased range of movement range in hinge joints", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/decreased-movement-range-in-interphalangeal-joints" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "flexion-limitation-of-toes", "name": "Flexion limitation of toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flexion-limitation-of-toes" }, { "slug": "limb-girdle-muscular-dystrophy", "name": "Limb-girdle muscular dystrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/limb-girdle-muscular-dystrophy" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "pelvic-girdle-muscle-weakness", "name": "Pelvic girdle muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/pelvic-girdle-muscle-weakness" }, { "slug": "proximal-upper-limb-amyotrophy", "name": "Proximal upper limb amyotrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/proximal-upper-limb-amyotrophy" }, { "slug": "rimmed-vacuoles", "name": "Rimmed vacuoles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/rimmed-vacuoles" }, { "slug": "proximal-lower-limb-amyotrophy", "name": "Wasting of thigh muscle", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/proximal-lower-limb-amyotrophy" }, { "slug": "shoulder-girdle-muscle-weakness", "name": "Weak shoulder muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-weakness" } ], "related": [ { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/de/genes/ano5" }, { "slug": "capn3", "symbol": "CAPN3", "name": "calpain 3", "shared": 1, "url": "https://dantelabs.com/de/genes/capn3" }, { "slug": "col6a1", "symbol": "COL6A1", "name": "collagen type VI alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/de/genes/col6a1" }, { "slug": "col6a2", "symbol": "COL6A2", "name": "collagen type VI alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/de/genes/col6a2" }, { "slug": "col6a3", "symbol": "COL6A3", "name": "collagen type VI alpha 3 chain", "shared": 1, "url": "https://dantelabs.com/de/genes/col6a3" }, { "slug": "dag1", "symbol": "DAG1", "name": "dystroglycan 1", "shared": 1, "url": "https://dantelabs.com/de/genes/dag1" }, { "slug": "dnajb6", "symbol": "DNAJB6", "name": "DnaJ heat shock protein family (Hsp40) member B6", "shared": 1, "url": "https://dantelabs.com/de/genes/dnajb6" }, { "slug": "dysf", "symbol": "DYSF", "name": "dysferlin", "shared": 1, "url": "https://dantelabs.com/de/genes/dysf" }, { "slug": "fkrp", "symbol": "FKRP", "name": "fukutin related protein", "shared": 1, "url": "https://dantelabs.com/de/genes/fkrp" }, { "slug": "fktn", "symbol": "FKTN", "name": "fukutin", "shared": 1, "url": "https://dantelabs.com/de/genes/fktn" }, { "slug": "gmppb", "symbol": "GMPPB", "name": "GDP-mannose pyrophosphorylase B", "shared": 1, "url": "https://dantelabs.com/de/genes/gmppb" }, { "slug": "hmgcr", "symbol": "HMGCR", "name": "3-hydroxy-3-methylglutaryl-CoA reductase", "shared": 1, "url": "https://dantelabs.com/de/genes/hmgcr" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }