{
  "url": "https://dantelabs.com/fr/genes/spag1",
  "gene": {
    "slug": "spag1",
    "symbol": "SPAG1",
    "name": "sperm associated antigen 1",
    "hgnc": "HGNC:11212",
    "summary": null,
    "location": "8q22.2",
    "locusType": "gene with protein product",
    "aliases": [
      "SP75",
      "FLJ32920",
      "HSD-3.8",
      "TPIS",
      "CT140",
      "CILD28",
      "DNAAF13"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000104450",
    "entrezId": 6674,
    "omim": [
      "603395"
    ],
    "uniprot": [
      "Q07617"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 100158587,
      "end": 100241904,
      "strand": "+",
      "ensemblTranscript": "ENST00000388798.7",
      "refseqTranscript": "NM_003114.5",
      "ensemblProtein": "ENSP00000373450.3",
      "refseqProtein": "NP_003105.2",
      "exons": [
        {
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        }
      ],
      "cds": {
        "start": 100162281,
        "end": 100241022
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 101170134,
      "end": 101271506,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 99700246,
      "end": 100700245,
      "genes": [
        {
          "symbol": "VPS13B",
          "ensemblId": "ENSG00000132549",
          "biotype": "protein_coding",
          "start": 99013254,
          "end": 99877580,
          "strand": "+",
          "slug": "vps13b"
        },
        {
          "symbol": "COX6C",
          "ensemblId": "ENSG00000164919",
          "biotype": "protein_coding",
          "start": 99870615,
          "end": 99893762,
          "strand": "-",
          "slug": "cox6c"
        },
        {
          "symbol": "RGS22",
          "ensemblId": "ENSG00000132554",
          "biotype": "protein_coding",
          "start": 99960936,
          "end": 100131268,
          "strand": "-",
          "slug": "rgs22"
        },
        {
          "symbol": "FBXO43",
          "ensemblId": "ENSG00000156509",
          "biotype": "protein_coding",
          "start": 100133351,
          "end": 100145826,
          "strand": "-",
          "slug": "fbxo43"
        },
        {
          "symbol": "POLR2K",
          "ensemblId": "ENSG00000147669",
          "biotype": "protein_coding",
          "start": 100150610,
          "end": 100154005,
          "strand": "+",
          "slug": "polr2k"
        },
        {
          "symbol": "RNF19A",
          "ensemblId": "ENSG00000034677",
          "biotype": "protein_coding",
          "start": 100234202,
          "end": 100336218,
          "strand": "-",
          "slug": "rnf19a"
        },
        {
          "symbol": "ANKRD46",
          "ensemblId": "ENSG00000186106",
          "biotype": "protein_coding",
          "start": 100509752,
          "end": 100559789,
          "strand": "-",
          "slug": "ankrd46"
        },
        {
          "symbol": "SNX31",
          "ensemblId": "ENSG00000174226",
          "biotype": "protein_coding",
          "start": 100572882,
          "end": 100663415,
          "strand": "-",
          "slug": "snx31"
        },
        {
          "symbol": "PABPC1",
          "ensemblId": "ENSG00000070756",
          "biotype": "protein_coding",
          "start": 100685816,
          "end": 100722809,
          "strand": "-",
          "slug": "pabpc1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-ciliary-dyskinesia",
        "name": "Dyskinésie ciliaire primitive",
        "diseases": [
          {
            "mondoId": "MONDO:0016575",
            "name": "Dyskinésie ciliaire primitive",
            "genes": 50,
            "inheritance": "autosomal-recessive",
            "description": "Une maladie rare d'origine génétique et hétérogène, principalement respiratoire, caractérisée par une atteinte chronique des voies respiratoires supérieures et inférieures. Environ la moitié des personnes atteintes de PCD présentent une anomalie de la latéralisation des organes (situs inversus totalis ou situs ambiguus/hétérotaxie).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/primary-ciliary-dyskinesia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormal-inferior-vena-cava-morphology",
        "name": "Abnormal inferior vena cava morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-inferior-vena-cava-morphology"
      },
      {
        "slug": "abnormal-atrial-arrangement",
        "name": "Abnormal location of heart atrium",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-atrial-arrangement"
      },
      {
        "slug": "abnormal-sperm-motility",
        "name": "Abnormal sperm motility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-sperm-motility"
      },
      {
        "slug": "abnormal-sputum",
        "name": "Abnormal sputum",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-sputum"
      },
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      },
      {
        "slug": "abnormal-heart-morphology",
        "name": "Abnormality of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-heart-morphology"
      },
      {
        "slug": "abnormality-of-the-skeletal-system",
        "name": "Abnormality of the skeletal system",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system"
      },
      {
        "slug": "asplenia",
        "name": "Absent spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/asplenia"
      },
      {
        "slug": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "anomalous-pulmonary-venous-return",
        "name": "Anomalous pulmonary venous return",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/anomalous-pulmonary-venous-return"
      },
      {
        "slug": "atrial-situs-ambiguous",
        "name": "Atrial situs ambiguous",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/atrial-situs-ambiguous"
      },
      {
        "slug": "nasal-congestion",
        "name": "Blockage of nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nasal-congestion"
      },
      {
        "slug": "chronic-bronchitis",
        "name": "Chronic bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/chronic-bronchitis"
      },
      {
        "slug": "chronic-otitis-media",
        "name": "Chronic infections of the middle ear",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-otitis-media"
      },
      {
        "slug": "chronic-rhinitis",
        "name": "Chronic rhinitis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-rhinitis"
      },
      {
        "slug": "chronic-sinusitis",
        "name": "Chronic sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-sinusitis"
      },
      {
        "slug": "ciliary-dyskinesia",
        "name": "Ciliary dyskinesia",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/ciliary-dyskinesia"
      },
      {
        "slug": "clubbing",
        "name": "Clubbing of fingers and toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clubbing"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "decreased-nasal-nitric-oxide",
        "name": "Decreased nasal nitric oxide",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-nasal-nitric-oxide"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "double-outlet-right-ventricle",
        "name": "Double outlet right ventricle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/double-outlet-right-ventricle"
      },
      {
        "slug": "dynein-arm-defect-of-respiratory-motile-cilia",
        "name": "Dynein arm defect of respiratory motile cilia",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dynein-arm-defect-of-respiratory-motile-cilia"
      },
      {
        "slug": "female-infertility",
        "name": "Female infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/female-infertility"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "intestinal-malrotation",
        "name": "Intestinal malrotation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/intestinal-malrotation"
      },
      {
        "slug": "lithoptysis",
        "name": "Lithoptysis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lithoptysis"
      },
      {
        "slug": "male-infertility",
        "name": "Male infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "morphological-central-nervous-system-abnormality",
        "name": "Morphological central nervous system abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/morphological-central-nervous-system-abnormality"
      },
      {
        "slug": "polysplenia",
        "name": "Multiple small spleens",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/polysplenia"
      },
      {
        "slug": "rhinitis",
        "name": "Nasal inflammation",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/rhinitis"
      },
      {
        "slug": "nasal-polyposis",
        "name": "Nasal polyposis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nasal-polyposis"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "airway-obstruction",
        "name": "Obstructive lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/airway-obstruction"
      },
      {
        "slug": "atelectasis",
        "name": "Partial or complete collapse of part or entire lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atelectasis"
      },
      {
        "slug": "peribronchovascular-interstitial-thickening",
        "name": "Peribronchovascular interstitial thickening",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peribronchovascular-interstitial-thickening"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "persistent-left-superior-vena-cava",
        "name": "Persistent left superior vena cava",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/persistent-left-superior-vena-cava"
      },
      {
        "slug": "pulmonary-situs-ambiguus",
        "name": "Pulmonary situs ambiguus",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-situs-ambiguus"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-mycobacterial-infections",
        "name": "Recurrent mycobacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-mycobacterial-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-sinopulmonary-infections",
        "name": "Recurrent sinus and lung infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-sinopulmonary-infections"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-sinusitis"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "respiratory-insufficiency-due-to-defective-ciliary-clearance",
        "name": "Respiratory insufficiency due to defective ciliary clearance",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-defective-ciliary-clearance"
      },
      {
        "slug": "respiratory-tract-infection",
        "name": "Respiratory tract infection",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-tract-infection"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "transposition-of-the-great-arteries",
        "name": "Transposition of the great arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/transposition-of-the-great-arteries"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "productive-cough",
        "name": "Wet cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/productive-cough"
      },
      {
        "slug": "wheezing",
        "name": "Wheezing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wheezing"
      }
    ],
    "related": [
      {
        "slug": "ccdc39",
        "symbol": "CCDC39",
        "name": "coiled-coil domain 39 molecular ruler complex subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ccdc39"
      },
      {
        "slug": "ccdc40",
        "symbol": "CCDC40",
        "name": "coiled-coil domain 40 molecular ruler complex subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ccdc40"
      },
      {
        "slug": "ccno",
        "symbol": "CCNO",
        "name": "cyclin O",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ccno"
      },
      {
        "slug": "cenpf",
        "symbol": "CENPF",
        "name": "centromere protein F",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cenpf"
      },
      {
        "slug": "cfap20dc",
        "symbol": "CFAP20DC",
        "name": "CFAP20 domain containing",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cfap20dc"
      },
      {
        "slug": "cfap221",
        "symbol": "CFAP221",
        "name": "cilia and flagella associated protein 221",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cfap221"
      },
      {
        "slug": "cfap298",
        "symbol": "CFAP298",
        "name": "cilia and flagella associated protein 298",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cfap298"
      },
      {
        "slug": "cfap300",
        "symbol": "CFAP300",
        "name": "cilia and flagella associated protein 300",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cfap300"
      },
      {
        "slug": "cfap54",
        "symbol": "CFAP54",
        "name": "cilia and flagella associated protein 54",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cfap54"
      },
      {
        "slug": "clxn",
        "symbol": "CLXN",
        "name": "calaxin",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/clxn"
      },
      {
        "slug": "daw1",
        "symbol": "DAW1",
        "name": "dynein assembly factor with WD repeats 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/daw1"
      },
      {
        "slug": "dnaaf1",
        "symbol": "DNAAF1",
        "name": "dynein axonemal assembly factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dnaaf1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}