{
  "url": "https://dantelabs.com/et/genes/cfap300",
  "gene": {
    "slug": "cfap300",
    "symbol": "CFAP300",
    "name": "cilia and flagella associated protein 300",
    "hgnc": "HGNC:28188",
    "summary": null,
    "location": "11q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC13040",
      "FBB5",
      "DNAAF17"
    ],
    "previousSymbols": [
      "C11orf70"
    ],
    "ensemblId": "ENSG00000137691",
    "entrezId": 85016,
    "omim": [
      "618058"
    ],
    "uniprot": [
      "Q9BRQ4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 102047437,
      "end": 102084554,
      "strand": "+",
      "ensemblTranscript": "ENST00000434758.7",
      "refseqTranscript": "NM_032930.3",
      "ensemblProtein": "ENSP00000414390.2",
      "refseqProtein": "NP_116319.2",
      "exons": [
        {
          "start": 102047437,
          "end": 102047580
        },
        {
          "start": 102047815,
          "end": 102047896
        },
        {
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          "end": 102058955
        },
        {
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          "end": 102066651
        },
        {
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        },
        {
          "start": 102081215,
          "end": 102081281
        },
        {
          "start": 102083071,
          "end": 102084554
        }
      ],
      "cds": {
        "start": 102047471,
        "end": 102083199
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 101918174,
      "end": 101955291,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 101565996,
      "end": 102565995,
      "genes": [
        {
          "symbol": "TRPC6",
          "ensemblId": "ENSG00000137672",
          "biotype": "protein_coding",
          "start": 101447437,
          "end": 101872562,
          "strand": "-",
          "slug": "trpc6"
        },
        {
          "symbol": "ANGPTL5",
          "ensemblId": "ENSG00000187151",
          "biotype": "protein_coding",
          "start": 101890660,
          "end": 102026456,
          "strand": "-",
          "slug": "angptl5"
        },
        {
          "symbol": "CEP126",
          "ensemblId": "ENSG00000110318",
          "biotype": "protein_coding",
          "start": 101914997,
          "end": 102001062,
          "strand": "+",
          "slug": "cep126"
        },
        {
          "symbol": "YAP1",
          "ensemblId": "ENSG00000137693",
          "biotype": "protein_coding",
          "start": 102109968,
          "end": 102233534,
          "strand": "+",
          "slug": "yap1"
        },
        {
          "symbol": "BIRC3",
          "ensemblId": "ENSG00000023445",
          "biotype": "protein_coding",
          "start": 102317451,
          "end": 102339403,
          "strand": "+",
          "slug": "birc3"
        },
        {
          "symbol": "BIRC2",
          "ensemblId": "ENSG00000110330",
          "biotype": "protein_coding",
          "start": 102347208,
          "end": 102378680,
          "strand": "+",
          "slug": "birc2"
        },
        {
          "symbol": "TMEM123",
          "ensemblId": "ENSG00000152558",
          "biotype": "protein_coding",
          "start": 102396329,
          "end": 102470384,
          "strand": "-",
          "slug": "tmem123"
        },
        {
          "symbol": "MMP7",
          "ensemblId": "ENSG00000137673",
          "biotype": "protein_coding",
          "start": 102520508,
          "end": 102530853,
          "strand": "-",
          "slug": "mmp7"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-ciliary-dyskinesia",
        "name": "Primaarne tsiliaarne düskineesia",
        "diseases": [
          {
            "mondoId": "MONDO:0016575",
            "name": "Primaarne tsiliaarne düskineesia",
            "genes": 50,
            "inheritance": "autosomal-recessive",
            "description": "Haruldane, geneetiliselt heterogeenne, peamiselt hingamisteede haigus, mida iseloomustavad kroonilised ülemiste ja alumiste hingamisteede haigused. Ligikaudu pooltel PCD-patsientidest esineb elundite lateraalsuse häire (situs inversus totalis või situs ambiguus/heterotaksia).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/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": "absent-inner-and-outer-dynein-arms",
        "name": "Absent inner and outer dynein arms",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-inner-and-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": "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-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": "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": "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": "dextrocardia",
        "name": "Heart tip and four chambers point towards right side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dextrocardia"
      },
      {
        "slug": "immotile-cilia",
        "name": "Immotile cilia",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immotile-cilia"
      },
      {
        "slug": "infertility",
        "name": "Infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/infertility"
      },
      {
        "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": "obligate",
        "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": "occasional",
        "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": "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": "obligate",
        "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/et/genes/ccdc39"
      },
      {
        "slug": "ccdc40",
        "symbol": "CCDC40",
        "name": "coiled-coil domain 40 molecular ruler complex subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ccdc40"
      },
      {
        "slug": "ccno",
        "symbol": "CCNO",
        "name": "cyclin O",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ccno"
      },
      {
        "slug": "cenpf",
        "symbol": "CENPF",
        "name": "centromere protein F",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cenpf"
      },
      {
        "slug": "cfap20dc",
        "symbol": "CFAP20DC",
        "name": "CFAP20 domain containing",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cfap20dc"
      },
      {
        "slug": "cfap221",
        "symbol": "CFAP221",
        "name": "cilia and flagella associated protein 221",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cfap221"
      },
      {
        "slug": "cfap298",
        "symbol": "CFAP298",
        "name": "cilia and flagella associated protein 298",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cfap298"
      },
      {
        "slug": "cfap54",
        "symbol": "CFAP54",
        "name": "cilia and flagella associated protein 54",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/cfap54"
      },
      {
        "slug": "clxn",
        "symbol": "CLXN",
        "name": "calaxin",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/clxn"
      },
      {
        "slug": "daw1",
        "symbol": "DAW1",
        "name": "dynein assembly factor with WD repeats 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/daw1"
      },
      {
        "slug": "dnaaf1",
        "symbol": "DNAAF1",
        "name": "dynein axonemal assembly factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dnaaf1"
      },
      {
        "slug": "dnaaf11",
        "symbol": "DNAAF11",
        "name": "dynein axonemal assembly factor 11",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dnaaf11"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}