{
  "url": "https://dantelabs.com/lt/genes/orai1",
  "gene": {
    "slug": "orai1",
    "symbol": "ORAI1",
    "name": "ORAI calcium release-activated calcium modulator 1",
    "hgnc": "HGNC:25896",
    "summary": null,
    "location": "12q24.31",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ14466",
      "CRACM1"
    ],
    "previousSymbols": [
      "TMEM142A"
    ],
    "ensemblId": "ENSG00000276045",
    "entrezId": 84876,
    "omim": [
      "610277"
    ],
    "uniprot": [
      "Q96D31"
    ],
    "model": null,
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 122064455,
      "end": 122080583,
      "strand": "+"
    },
    "neighbourhood": null,
    "reports": [
      {
        "slug": "tubular-aggregate-myopathy-stim1-orai1",
        "name": "Tubulārių agregatų miopatija",
        "diseases": [
          {
            "mondoId": "MONDO:0008051",
            "name": "Tubulārių agregatų miopatija",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "Ją sukelia vieno STIM1 arba ORAI1 egzemplioriaus pakitimas, kurie kartu kontroliuoja į ląsteles patenkantį kalcį (angl. store-operated calcium entry). Ligą sukeliantys pakitimai yra padidinto aktyvumo (gain-of-function), todėl į ląsteles patenka per daug kalcio.",
            "management": "Fizioterapija ir neuromuskulinė priežiūra, kartu tikrinant kraujo ląstelių skaičių, blužnį ir akis, jei gali būti Stormorken sindromo požymių. Paveikto asmens vaikai gali paveldėti pakitimą, todėl galima pasiūlyti genetinę konsultaciją ir šeimos tyrimus.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/tubular-aggregate-myopathy-stim1-orai1"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Kiti įgimti imunodeficitai",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Imunodeficito liga",
            "genes": 170,
            "inheritance": null,
            "description": "Liga, kai sutrikusi arba nepakankamai išsivysčiusi imuninė apsauga – tiek ląstelinė, tiek humoralinė.",
            "management": "HSCT (hematopoetinių kamieninių ląstelių transplantacija) taikoma SCID ir sunkioms pirminėms imunodeficito ligoms gydyti; imunoglobulinų papildymas (IVIG/SCIG) – antikūnų nepakankamumui; leniolisibas (Joenja, FDA 2023) – APDS; genų terapija – ADA-SCID; abatacepto – CTLA4 ir LRBA nepakankamumui; profilaktiniai antibiotikai; G-CSF – CGD",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormality-of-coagulation",
        "name": "Abnormality of coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-coagulation"
      },
      {
        "slug": "asplenia",
        "name": "Absent spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/asplenia"
      },
      {
        "slug": "amelogenesis-imperfecta",
        "name": "Amelogenesis imperfecta",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/amelogenesis-imperfecta"
      },
      {
        "slug": "ankle-flexion-contracture",
        "name": "Ankle flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ankle-flexion-contracture"
      },
      {
        "slug": "areflexia-of-lower-limbs",
        "name": "Areflexia of lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/areflexia-of-lower-limbs"
      },
      {
        "slug": "bcgitis",
        "name": "BCGitis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bcgitis"
      },
      {
        "slug": "purpura",
        "name": "Blood spots",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/purpura"
      },
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "miosis",
        "name": "Constricted pupils",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/miosis"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "ectodermal-dysplasia",
        "name": "Ectodermal dysplasia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ectodermal-dysplasia"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "emg-myopathic-abnormalities",
        "name": "EMG: myopathic abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "falls",
        "name": "Falls",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/falls"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigable-weakness",
        "name": "Fatigable weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness"
      },
      {
        "slug": "fatiguable-weakness-of-proximal-limb-muscles",
        "name": "Fatiguable weakness of proximal limb muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatiguable-weakness-of-proximal-limb-muscles"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "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": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "heat-intolerance",
        "name": "Heat intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/heat-intolerance"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "stomatitis",
        "name": "Inflammation of the mouth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/stomatitis"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-fiber-tubular-inclusions",
        "name": "Muscle fiber tubular inclusions",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-fiber-tubular-inclusions"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "abnormality-of-the-musculature",
        "name": "Muscular abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculature"
      },
      {
        "slug": "neck-muscle-weakness",
        "name": "Neck muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neck-muscle-weakness"
      },
      {
        "slug": "abnormality-of-thrombocytes",
        "name": "Platelet abnormalities",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-thrombocytes"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "recurrent-aphthous-stomatitis",
        "name": "Recurrent canker sores",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-aphthous-stomatitis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "spinal-rigidity",
        "name": "Reduced spine movement",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spinal-rigidity"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "hypoplasia-of-the-thymus",
        "name": "Small thymus",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-thymus"
      },
      {
        "slug": "type-2-muscle-fiber-atrophy",
        "name": "Type 2 muscle fiber atrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/type-2-muscle-fiber-atrophy"
      }
    ],
    "related": [
      {
        "slug": "stim1",
        "symbol": "STIM1",
        "name": "stromal interaction molecule 1",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/stim1"
      },
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ak2"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/arpc1b"
      },
      {
        "slug": "arpc5",
        "symbol": "ARPC5",
        "name": "actin related protein 2/3 complex subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/arpc5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp6ap1"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/b2m"
      },
      {
        "slug": "bach2",
        "symbol": "BACH2",
        "name": "BACH transcriptional regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/bach2"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/bcl11b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}