{
  "url": "https://dantelabs.com/et/genes/arpc5",
  "gene": {
    "slug": "arpc5",
    "symbol": "ARPC5",
    "name": "actin related protein 2/3 complex subunit 5",
    "hgnc": "HGNC:708",
    "summary": null,
    "location": "1q25.3",
    "locusType": "gene with protein product",
    "aliases": [
      "p16-Arc",
      "ARC16",
      "dJ127C7.3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000162704",
    "entrezId": 10092,
    "omim": [
      "604227"
    ],
    "uniprot": [
      "O15511"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 183620846,
      "end": 183635783,
      "strand": "-",
      "ensemblTranscript": "ENST00000359856.11",
      "refseqTranscript": "NM_005717.4",
      "ensemblProtein": "ENSP00000352918.6",
      "refseqProtein": "NP_005708.1",
      "exons": [
        {
          "start": 183620846,
          "end": 183627594
        },
        {
          "start": 183630461,
          "end": 183630637
        },
        {
          "start": 183633082,
          "end": 183633154
        },
        {
          "start": 183635517,
          "end": 183635783
        }
      ],
      "cds": {
        "start": 183627532,
        "end": 183635659
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 183592401,
      "end": 183604892,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 183128315,
      "end": 184128314,
      "genes": [
        {
          "symbol": "LAMC1",
          "ensemblId": "ENSG00000135862",
          "biotype": "protein_coding",
          "start": 183023199,
          "end": 183145592,
          "strand": "+",
          "slug": "lamc1"
        },
        {
          "symbol": "LAMC2",
          "ensemblId": "ENSG00000058085",
          "biotype": "protein_coding",
          "start": 183186057,
          "end": 183245127,
          "strand": "+",
          "slug": "lamc2"
        },
        {
          "symbol": "NMNAT2",
          "ensemblId": "ENSG00000157064",
          "biotype": "protein_coding",
          "start": 183244571,
          "end": 183418421,
          "strand": "-",
          "slug": "nmnat2"
        },
        {
          "symbol": "SMG7",
          "ensemblId": "ENSG00000116698",
          "biotype": "protein_coding",
          "start": 183471871,
          "end": 183598246,
          "strand": "+",
          "slug": "smg7"
        },
        {
          "symbol": "NCF2",
          "ensemblId": "ENSG00000116701",
          "biotype": "protein_coding",
          "start": 183554461,
          "end": 183593499,
          "strand": "-",
          "slug": "ncf2"
        },
        {
          "symbol": "RGL1",
          "ensemblId": "ENSG00000143344",
          "biotype": "protein_coding",
          "start": 183636066,
          "end": 183928532,
          "strand": "+",
          "slug": "rgl1"
        },
        {
          "symbol": "APOBEC4",
          "ensemblId": "ENSG00000173627",
          "biotype": "protein_coding",
          "start": 183646275,
          "end": 183653316,
          "strand": "-",
          "slug": "apobec4"
        },
        {
          "symbol": "COLGALT2",
          "ensemblId": "ENSG00000198756",
          "biotype": "protein_coding",
          "start": 183929854,
          "end": 184037777,
          "strand": "-",
          "slug": "colgalt2"
        },
        {
          "symbol": "TSEN15",
          "ensemblId": "ENSG00000198860",
          "biotype": "protein_coding",
          "start": 184051629,
          "end": 184123978,
          "strand": "+",
          "slug": "tsen15"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "immunodeficiency-disease",
        "name": "Ostali pärilikud immuunpuudulikkused",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Immuunpuudulikkushaigus",
            "genes": 170,
            "inheritance": null,
            "description": "Haigus, mille korral on rakulise või humoraalse immuunsuse mehhanismid puudulikud või defektsed.",
            "management": "HSCT raske kombineeritud immuunpuudulikkuse (SCID) ja muude raskete PID-ide korral; immunoglobuliini asendusravi (IVIG/SCIG) antikehade puudulikkuse korral; leniolisib (Joenja, FDA 2023) APDS-i korral; geenravi ADA-SCID-i korral; abatatsept CTLA4/LRBA puudulikkuse korral; profülaktilised antibiootikumid; G-CSF CGD korral",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/et/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "autoimmune-hemolytic-anemia",
        "name": "Autoimmune hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia"
      },
      {
        "slug": "autoimmune-thrombocytopenia",
        "name": "Autoimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmune-thrombocytopenia"
      },
      {
        "slug": "celiac-disease",
        "name": "Celiac disease",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/celiac-disease"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "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": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "increased-total-monocyte-count",
        "name": "High blood monocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-monocyte-count"
      },
      {
        "slug": "increased-total-neutrophil-count",
        "name": "Increased blood neutrophil counts",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-neutrophil-count"
      },
      {
        "slug": "increased-circulating-iga-concentration",
        "name": "Increased circulating IgA concentration",
        "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/increased-circulating-iga-concentration"
      },
      {
        "slug": "increased-circulating-ige-concentration",
        "name": "Increased circulating IgE concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-ige-concentration"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "intraalveolar-phospholipid-accumulation",
        "name": "Intraalveolar phospholipid accumulation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intraalveolar-phospholipid-accumulation"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "minimal-change-glomerulonephritis",
        "name": "Minimal change glomerulonephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/minimal-change-glomerulonephritis"
      },
      {
        "slug": "myositis",
        "name": "Muscle inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myositis"
      },
      {
        "slug": "neonatal-omphalitis",
        "name": "Neonatal omphalitis",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-omphalitis"
      },
      {
        "slug": "paralytic-ileus",
        "name": "Paralytic ileus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paralytic-ileus"
      },
      {
        "slug": "poor-wound-healing",
        "name": "Poor wound healing",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-wound-healing"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "pulmonary-pneumatocele",
        "name": "Pulmonary pneumatocele",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-pneumatocele"
      },
      {
        "slug": "hematochezia",
        "name": "Rectal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hematochezia"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-fungal-infections",
        "name": "Recurrent fungal infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fungal-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-viral-infections",
        "name": "Recurrent viral infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-viral-infections"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ak2"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/arpc1b"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/atp6ap1"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/b2m"
      },
      {
        "slug": "bach2",
        "symbol": "BACH2",
        "name": "BACH transcriptional regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/bach2"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/btk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}