{ "url": "https://dantelabs.com/hu/genes/actn1", "gene": { "slug": "actn1", "symbol": "ACTN1", "name": "actinin alpha 1", "hgnc": "HGNC:163", "summary": null, "location": "14q24.1", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000072110", "entrezId": 87, "omim": [ "102575" ], "uniprot": [ "P12814" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "14", "start": 68874128, "end": 68979302, "strand": "-", "ensemblTranscript": "ENST00000394419.9", "refseqTranscript": "NM_001130004.2", "ensemblProtein": "ENSP00000377941.4", "refseqProtein": "NP_001123476.1", "exons": [ { "start": 68874128, "end": 68875017 }, { "start": 68877082, "end": 68877240 }, { "start": 68878458, "end": 68878523 }, { "start": 68878989, "end": 68879069 }, { "start": 68879962, "end": 68880108 }, { "start": 68880810, "end": 68880989 }, { "start": 68882458, "end": 68882592 }, { "start": 68882873, "end": 68883055 }, { "start": 68884168, "end": 68884308 }, { 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"protein_coding", "start": 68787655, "end": 68796269, "strand": "-", "slug": "zfp36l1" }, { "symbol": "DCAF5", "ensemblId": "ENSG00000139990", "biotype": "protein_coding", "start": 69050881, "end": 69153179, "strand": "-", "slug": "dcaf5" }, { "symbol": "EXD2", "ensemblId": "ENSG00000081177", "biotype": "protein_coding", "start": 69191474, "end": 69244020, "strand": "+", "slug": "exd2" }, { "symbol": "GALNT16", "ensemblId": "ENSG00000100626", "biotype": "protein_coding", "start": 69259277, "end": 69387203, "strand": "+", "slug": "galnt16" }, { "symbol": "ERH", "ensemblId": "ENSG00000100632", "biotype": "protein_coding", "start": 69380123, "end": 69398602, "strand": "-", "slug": "erh" }, { "symbol": "SLC39A9", "ensemblId": "ENSG00000029364", "biotype": "protein_coding", "start": 69398015, "end": 69463644, "strand": "+", "slug": "slc39a9" } ], "truncated": false }, "reports": [ { "slug": "inherited-thrombocytopenias", "name": "Inherited Thrombocytopenias", "diseases": [ { "mondoId": "MONDO:0100241", "name": "Inherited Thrombocytopenia", "genes": 33, "inheritance": null, "description": "A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.", "management": "A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/inherited-thrombocytopenias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "metrorrhagia", "name": "Abnormal uterus bleeding", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metrorrhagia" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "increased-mean-platelet-volume", "name": "Large platelets", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-mean-platelet-volume" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "macrothrombocytopenia", "name": "Macrothrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrothrombocytopenia" }, { "slug": "platelet-anisocytosis", "name": "Platelet anisocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/platelet-anisocytosis" }, { "slug": "prolonged-bleeding-after-dental-extraction", "name": "Prolonged bleeding after dental extraction", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-bleeding-after-dental-extraction" }, { "slug": "prolonged-bleeding-after-surgery", "name": "Prolonged bleeding after surgery", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-bleeding-after-surgery" } ], "related": [ { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/hu/genes/actb" }, { "slug": "adamts13", "symbol": "ADAMTS13", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13", "shared": 1, "url": "https://dantelabs.com/hu/genes/adamts13" }, { "slug": "ankrd26", "symbol": "ANKRD26", "name": "ankyrin repeat domain 26", "shared": 1, "url": "https://dantelabs.com/hu/genes/ankrd26" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/hu/genes/arpc1b" }, { "slug": "cdc42", "symbol": "CDC42", "name": "cell division cycle 42", "shared": 1, "url": "https://dantelabs.com/hu/genes/cdc42" }, { "slug": "cycs", "symbol": "CYCS", "name": "cytochrome c, somatic", "shared": 1, "url": "https://dantelabs.com/hu/genes/cycs" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/diaph1" }, { "slug": "etv6", "symbol": "ETV6", "name": "ETS variant transcription factor 6", "shared": 1, "url": "https://dantelabs.com/hu/genes/etv6" }, { "slug": "fli1", "symbol": "FLI1", "name": "Fli-1 proto-oncogene, ETS transcription factor", "shared": 1, "url": "https://dantelabs.com/hu/genes/fli1" }, { "slug": "fyb1", "symbol": "FYB1", "name": "FYN binding protein 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/fyb1" }, { "slug": "gale", "symbol": "GALE", "name": "UDP-galactose-4-epimerase", "shared": 1, "url": "https://dantelabs.com/hu/genes/gale" }, { "slug": "gata1", "symbol": "GATA1", "name": "GATA binding protein 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/gata1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }