{
  "url": "https://dantelabs.com/de/genes/ttc21b",
  "gene": {
    "slug": "ttc21b",
    "symbol": "TTC21B",
    "name": "tetratricopeptide repeat domain 21B",
    "hgnc": "HGNC:25660",
    "summary": null,
    "location": "2q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ11457",
      "JBTS11",
      "NPHP12",
      "IFT139B",
      "THM1",
      "FAP60",
      "FLA17",
      "IFT139",
      "CFAP60"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000123607",
    "entrezId": 79809,
    "omim": [
      "612014"
    ],
    "uniprot": [
      "Q7Z4L5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 165873362,
      "end": 165953776,
      "strand": "-",
      "ensemblTranscript": "ENST00000243344.8",
      "refseqTranscript": "NM_024753.5",
      "ensemblProtein": "ENSP00000243344.7",
      "refseqProtein": "NP_079029.3",
      "exons": [
        {
          "start": 165873362,
          "end": 165874832
        },
        {
          "start": 165876165,
          "end": 165876232
        },
        {
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        },
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        },
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        },
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        },
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        },
        {
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        },
        {
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        },
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        },
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        },
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        },
        {
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        },
        {
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        },
        {
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        },
        {
          "start": 165932973,
          "end": 165933057
        },
        {
          "start": 165941027,
          "end": 165941184
        },
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          "start": 165943219,
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        },
        {
          "start": 165945524,
          "end": 165945690
        },
        {
          "start": 165949394,
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        },
        {
          "start": 165949595,
          "end": 165949724
        },
        {
          "start": 165953685,
          "end": 165953776
        }
      ],
      "cds": {
        "start": 165874755,
        "end": 165953705
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 166713985,
      "end": 166810353,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 165413569,
      "end": 166413568,
      "genes": [
        {
          "symbol": "CSRNP3",
          "ensemblId": "ENSG00000178662",
          "biotype": "protein_coding",
          "start": 165469647,
          "end": 165689407,
          "strand": "+",
          "slug": "csrnp3"
        },
        {
          "symbol": "GALNT3",
          "ensemblId": "ENSG00000115339",
          "biotype": "protein_coding",
          "start": 165747339,
          "end": 165846201,
          "strand": "-",
          "slug": "galnt3"
        },
        {
          "symbol": "SCN1A",
          "ensemblId": "ENSG00000144285",
          "biotype": "protein_coding",
          "start": 165984641,
          "end": 166182806,
          "strand": "-",
          "slug": "scn1a"
        },
        {
          "symbol": "SCN9A",
          "ensemblId": "ENSG00000169432",
          "biotype": "protein_coding",
          "start": 166195185,
          "end": 166376001,
          "strand": "-",
          "slug": "scn9a"
        },
        {
          "symbol": "SCN7A",
          "ensemblId": "ENSG00000136546",
          "biotype": "protein_coding",
          "start": 166403472,
          "end": 166611482,
          "strand": "-",
          "slug": "scn7a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "nephronophthisis-senior-loken-syndrome",
        "name": "Nephronophthise und Senior-Løken-Syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0019005",
            "name": "Nephronophthise",
            "genes": 17,
            "inheritance": "autosomal-recessive",
            "description": "Eine autosomal-rezessiv vererbte Nierenerkrankung, die durch Varianten in NPHP1 und anderen Ziliengenen verursacht wird. Die fortschreitende tubulointerstitielle Vernarbung führt typischerweise in den ersten drei Lebensjahrzehnten zu Nierenversagen.",
            "management": "Das Wissen um die Erkrankung ermöglicht regelmäßige Kontrollen der Nierenfunktion, die rechtzeitige Planung einer Dialyse oder Transplantation sowie Trägertests für Verwandte.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/nephronophthisis-senior-loken-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-clavicle-morphology",
        "name": "Abnormal collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-clavicle-morphology"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormal-pelvic-girdle-bone-morphology",
        "name": "Abnormal shape of pelvic girdle bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pelvic-girdle-bone-morphology"
      },
      {
        "slug": "skeletal-dysplasia",
        "name": "Abnormal skeletal development",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-dysplasia"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "abnormal-rib-morphology",
        "name": "Abnormality of the ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-rib-morphology"
      },
      {
        "slug": "abnormal-sternum-morphology",
        "name": "Abnormality of the sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-sternum-morphology"
      },
      {
        "slug": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-lungs",
        "name": "Absent/small lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-lungs"
      },
      {
        "slug": "cone-shaped-epiphysis",
        "name": "Cone-shaped end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cone-shaped-epiphysis"
      },
      {
        "slug": "postaxial-hand-polydactyly",
        "name": "Extra little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly"
      },
      {
        "slug": "postaxial-foot-polydactyly",
        "name": "Extra toe attached near the little toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postaxial-foot-polydactyly"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "toe-syndactyly",
        "name": "Fused toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/toe-syndactyly"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "hepatic-cysts",
        "name": "Liver cysts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-cysts"
      },
      {
        "slug": "polydactyly",
        "name": "More than five fingers or toes on hands or feet",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polydactyly"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "nephronophthisis",
        "name": "Nephronophthisis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephronophthisis"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-foot",
        "name": "Short foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-foot"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-thorax",
        "name": "Shorter than typical length between neck and abdomen",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-thorax"
      },
      {
        "slug": "micromelia",
        "name": "Smaller or shorter than typical limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micromelia"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      }
    ],
    "related": [
      {
        "slug": "adamts9",
        "symbol": "ADAMTS9",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 9",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/adamts9"
      },
      {
        "slug": "anks6",
        "symbol": "ANKS6",
        "name": "ankyrin repeat and sterile alpha motif domain containing 6",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/anks6"
      },
      {
        "slug": "cep164",
        "symbol": "CEP164",
        "name": "centrosomal protein 164",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cep164"
      },
      {
        "slug": "cep83",
        "symbol": "CEP83",
        "name": "centrosomal protein 83",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cep83"
      },
      {
        "slug": "dcdc2",
        "symbol": "DCDC2",
        "name": "doublecortin domain containing 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/dcdc2"
      },
      {
        "slug": "glis2",
        "symbol": "GLIS2",
        "name": "GLIS family zinc finger 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/glis2"
      },
      {
        "slug": "invs",
        "symbol": "INVS",
        "name": "inversin",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/invs"
      },
      {
        "slug": "mapkbp1",
        "symbol": "MAPKBP1",
        "name": "mitogen-activated protein kinase binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/mapkbp1"
      },
      {
        "slug": "nek8",
        "symbol": "NEK8",
        "name": "NIMA related kinase 8",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/nek8"
      },
      {
        "slug": "nphp1",
        "symbol": "NPHP1",
        "name": "nephrocystin 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/nphp1"
      },
      {
        "slug": "nphp3",
        "symbol": "NPHP3",
        "name": "nephrocystin 3",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/nphp3"
      },
      {
        "slug": "nphp4",
        "symbol": "NPHP4",
        "name": "nephrocystin 4",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/nphp4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}