{
  "url": "https://dantelabs.com/fr/genes/dnal1",
  "gene": {
    "slug": "dnal1",
    "symbol": "DNAL1",
    "name": "dynein axonemal light chain 1",
    "hgnc": "HGNC:23247",
    "summary": null,
    "location": "14q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC12435",
      "1700010H15RiK",
      "CILD16"
    ],
    "previousSymbols": [
      "C14orf168"
    ],
    "ensemblId": "ENSG00000119661",
    "entrezId": 83544,
    "omim": [
      "610062"
    ],
    "uniprot": [
      "Q4LDG9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 73644986,
      "end": 73703732,
      "strand": "+",
      "ensemblTranscript": "ENST00000553645.7",
      "refseqTranscript": "NM_031427.4",
      "ensemblProtein": "ENSP00000452037.1",
      "refseqProtein": "NP_113615.2",
      "exons": [
        {
          "start": 73644986,
          "end": 73645042
        },
        {
          "start": 73654847,
          "end": 73654885
        },
        {
          "start": 73658847,
          "end": 73658956
        },
        {
          "start": 73661987,
          "end": 73662042
        },
        {
          "start": 73671542,
          "end": 73671597
        },
        {
          "start": 73687259,
          "end": 73687385
        },
        {
          "start": 73689375,
          "end": 73689515
        },
        {
          "start": 73695902,
          "end": 73703732
        }
      ],
      "cds": {
        "start": 73645040,
        "end": 73695942
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 74111578,
      "end": 74170435,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 73174359,
      "end": 74174358,
      "genes": [
        {
          "symbol": "PSEN1",
          "ensemblId": "ENSG00000080815",
          "biotype": "protein_coding",
          "start": 73136418,
          "end": 73223691,
          "strand": "+",
          "slug": "psen1"
        },
        {
          "symbol": "PAPLN",
          "ensemblId": "ENSG00000100767",
          "biotype": "protein_coding",
          "start": 73236338,
          "end": 73345508,
          "strand": "+",
          "slug": "papln"
        },
        {
          "symbol": "NUMB",
          "ensemblId": "ENSG00000133961",
          "biotype": "protein_coding",
          "start": 73274146,
          "end": 73466167,
          "strand": "-",
          "slug": "numb"
        },
        {
          "symbol": "HEATR4",
          "ensemblId": "ENSG00000187105",
          "biotype": "protein_coding",
          "start": 73478484,
          "end": 73558947,
          "strand": "-",
          "slug": "heatr4"
        },
        {
          "symbol": "RIOX1",
          "ensemblId": "ENSG00000170468",
          "biotype": "protein_coding",
          "start": 73490933,
          "end": 73520134,
          "strand": "+",
          "slug": "riox1"
        },
        {
          "symbol": "ACOT1",
          "ensemblId": "ENSG00000184227",
          "biotype": "protein_coding",
          "start": 73537122,
          "end": 73543797,
          "strand": "+",
          "slug": "acot1"
        },
        {
          "symbol": "ACOT2",
          "ensemblId": "ENSG00000119673",
          "biotype": "protein_coding",
          "start": 73567620,
          "end": 73588885,
          "strand": "+",
          "slug": "acot2"
        },
        {
          "symbol": "ACOT4",
          "ensemblId": "ENSG00000177465",
          "biotype": "protein_coding",
          "start": 73591660,
          "end": 73595766,
          "strand": "+",
          "slug": "acot4"
        },
        {
          "symbol": "ACOT6",
          "ensemblId": "ENSG00000205669",
          "biotype": "protein_coding",
          "start": 73610945,
          "end": 73619888,
          "strand": "+",
          "slug": "acot6"
        },
        {
          "symbol": "PNMA1",
          "ensemblId": "ENSG00000176903",
          "biotype": "protein_coding",
          "start": 73711783,
          "end": 73714384,
          "strand": "-",
          "slug": "pnma1"
        },
        {
          "symbol": "MIDEAS",
          "ensemblId": "ENSG00000156030",
          "biotype": "protein_coding",
          "start": 73715122,
          "end": 73790285,
          "strand": "-",
          "slug": "mideas"
        },
        {
          "symbol": "PTGR2",
          "ensemblId": "ENSG00000140043",
          "biotype": "protein_coding",
          "start": 73851792,
          "end": 73885726,
          "strand": "+",
          "slug": "ptgr2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000258653",
          "biotype": "protein_coding",
          "start": 73851971,
          "end": 73932278,
          "strand": "+"
        },
        {
          "symbol": "ZNF410",
          "ensemblId": "ENSG00000119725",
          "biotype": "protein_coding",
          "start": 73886201,
          "end": 73932521,
          "strand": "+",
          "slug": "znf410"
        },
        {
          "symbol": "FAM161B",
          "ensemblId": "ENSG00000156050",
          "biotype": "protein_coding",
          "start": 73931501,
          "end": 73950414,
          "strand": "-",
          "slug": "fam161b"
        },
        {
          "symbol": "COQ6",
          "ensemblId": "ENSG00000119723",
          "biotype": "protein_coding",
          "start": 73949926,
          "end": 73963670,
          "strand": "+",
          "slug": "coq6"
        },
        {
          "symbol": "ENTPD5",
          "ensemblId": "ENSG00000187097",
          "biotype": "protein_coding",
          "start": 73956688,
          "end": 74019399,
          "strand": "-",
          "slug": "entpd5"
        },
        {
          "symbol": "BBOF1",
          "ensemblId": "ENSG00000119636",
          "biotype": "protein_coding",
          "start": 74019341,
          "end": 74082863,
          "strand": "+",
          "slug": "bbof1"
        },
        {
          "symbol": "ALDH6A1",
          "ensemblId": "ENSG00000119711",
          "biotype": "protein_coding",
          "start": 74055997,
          "end": 74084492,
          "strand": "-",
          "slug": "aldh6a1"
        },
        {
          "symbol": "LIN52",
          "ensemblId": "ENSG00000205659",
          "biotype": "protein_coding",
          "start": 74084943,
          "end": 74201493,
          "strand": "+",
          "slug": "lin52"
        }
      ],
      "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",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "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-ciliary-motility",
        "name": "Abnormal ciliary motility",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-ciliary-motility"
      },
      {
        "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": "absent-outer-dynein-arms",
        "name": "Absent outer dynein arms",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-outer-dynein-arms"
      },
      {
        "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": "obligate",
        "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-otitis-media",
        "name": "Chronic infections of the middle ear",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-otitis-media"
      },
      {
        "slug": "chronic-rhinitis",
        "name": "Chronic rhinitis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "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": "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": "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": "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": "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": "pulmonic-regurgitation",
        "name": "Pulmonic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonic-regurgitation"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "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-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": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "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": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}