{
  "url": "https://dantelabs.com/nl/genes/cwf19l1",
  "gene": {
    "slug": "cwf19l1",
    "symbol": "CWF19L1",
    "name": "CWF19 like cell cycle control factor 1",
    "hgnc": "HGNC:25613",
    "summary": null,
    "location": "10q24.31",
    "locusType": "gene with protein product",
    "aliases": [
      "C19L1",
      "FLJ10998",
      "hDrn1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000095485",
    "entrezId": 55280,
    "omim": [
      "616120"
    ],
    "uniprot": [
      "Q69YN2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 100232298,
      "end": 100267638,
      "strand": "-",
      "ensemblTranscript": "ENST00000354105.10",
      "refseqTranscript": "NM_018294.6",
      "ensemblProtein": "ENSP00000326411.6",
      "refseqProtein": "NP_060764.3",
      "exons": [
        {
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          "end": 100233371
        },
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        },
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        }
      ],
      "cds": {
        "start": 100233227,
        "end": 100267593
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 101992055,
      "end": 102027437,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 99749968,
      "end": 100749967,
      "genes": [
        {
          "symbol": "CUTC",
          "ensemblId": "ENSG00000119929",
          "biotype": "protein_coding",
          "start": 99702558,
          "end": 99758005,
          "strand": "+",
          "slug": "cutc"
        },
        {
          "symbol": "ABCC2",
          "ensemblId": "ENSG00000023839",
          "biotype": "protein_coding",
          "start": 99782640,
          "end": 99853670,
          "strand": "+",
          "slug": "abcc2"
        },
        {
          "symbol": "DNMBP",
          "ensemblId": "ENSG00000107554",
          "biotype": "protein_coding",
          "start": 99875576,
          "end": 100010049,
          "strand": "-",
          "slug": "dnmbp"
        },
        {
          "symbol": "CPN1",
          "ensemblId": "ENSG00000120054",
          "biotype": "protein_coding",
          "start": 100041105,
          "end": 100081907,
          "strand": "-",
          "slug": "cpn1"
        },
        {
          "symbol": "ERLIN1",
          "ensemblId": "ENSG00000107566",
          "biotype": "protein_coding",
          "start": 100150094,
          "end": 100186062,
          "strand": "-",
          "slug": "erlin1"
        },
        {
          "symbol": "CHUK",
          "ensemblId": "ENSG00000213341",
          "biotype": "protein_coding",
          "start": 100188299,
          "end": 100229611,
          "strand": "-",
          "slug": "chuk"
        },
        {
          "symbol": "BLOC1S2",
          "ensemblId": "ENSG00000196072",
          "biotype": "protein_coding",
          "start": 100272797,
          "end": 100286708,
          "strand": "-",
          "slug": "bloc1s2"
        },
        {
          "symbol": "PKD2L1",
          "ensemblId": "ENSG00000107593",
          "biotype": "protein_coding",
          "start": 100288149,
          "end": 100330264,
          "strand": "-",
          "slug": "pkd2l1"
        },
        {
          "symbol": "SCD",
          "ensemblId": "ENSG00000099194",
          "biotype": "protein_coding",
          "start": 100346508,
          "end": 100364837,
          "strand": "+",
          "slug": "scd"
        },
        {
          "symbol": "WNT8B",
          "ensemblId": "ENSG00000075290",
          "biotype": "protein_coding",
          "start": 100463009,
          "end": 100483744,
          "strand": "+",
          "slug": "wnt8b"
        },
        {
          "symbol": "SEC31B",
          "ensemblId": "ENSG00000075826",
          "biotype": "protein_coding",
          "start": 100484998,
          "end": 100519892,
          "strand": "-",
          "slug": "sec31b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000255339",
          "biotype": "protein_coding",
          "start": 100505628,
          "end": 100529881,
          "strand": "-"
        },
        {
          "symbol": "NDUFB8",
          "ensemblId": "ENSG00000166136",
          "biotype": "protein_coding",
          "start": 100523668,
          "end": 100530000,
          "strand": "-",
          "slug": "ndufb8"
        },
        {
          "symbol": "HIF1AN",
          "ensemblId": "ENSG00000166135",
          "biotype": "protein_coding",
          "start": 100529072,
          "end": 100681896,
          "strand": "+",
          "slug": "hif1an"
        },
        {
          "symbol": "PAX2",
          "ensemblId": "ENSG00000075891",
          "biotype": "protein_coding",
          "start": 100735380,
          "end": 100829944,
          "strand": "+",
          "slug": "pax2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-recessive-cerebellar-ataxias",
        "name": "Autosomale recessieve cerebellaire ataxieën (waaronder CANVAS en AVED)",
        "diseases": [
          {
            "mondoId": "MONDO:0015244",
            "name": "Autosomale recessieve cerebellaire ataxie",
            "genes": 57,
            "inheritance": "autosomal-recessive",
            "description": "Een groep recessief overgeërfde ataxieën, veroorzaakt door biallelische varianten in genen zoals RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 en SYNE1.",
            "management": "Ataxie met vitamine E-tekort (TTPA) kan worden behandeld met vitamine E-supplementen; andere vormen worden behandeld met fysiotherapie en symptoombestrijding, en aan familieleden kan een draagstertest worden aangeboden.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/autosomal-recessive-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-distal-phalanx-of-the-thumb",
        "name": "Abnormality of the outermost bone of the thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-distal-phalanx-of-the-thumb"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "appendicular-hypotonia",
        "name": "Appendicular hypotonia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/appendicular-hypotonia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "floppy-infant",
        "name": "Decreased muscle tone in infant",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/floppy-infant"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "truncal-ataxia",
        "name": "Instability or lack of coordination of central trunk muscles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/truncal-ataxia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "mild-microcephaly",
        "name": "Mild microcephaly",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-microcephaly"
      },
      {
        "slug": "synophrys",
        "name": "Monobrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/synophrys"
      },
      {
        "slug": "monotonic-speech",
        "name": "Monotonic speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/monotonic-speech"
      },
      {
        "slug": "nonprogressive-cerebellar-ataxia",
        "name": "Nonprogressive cerebellar ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nonprogressive-cerebellar-ataxia"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "slurred-speech",
        "name": "Slurred speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slurred-speech"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "thick-eyebrow",
        "name": "Thick eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thick-eyebrow"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/broad-based-gait"
      }
    ],
    "related": [
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ahi1"
      },
      {
        "slug": "ano10",
        "symbol": "ANO10",
        "name": "anoctamin 10",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ano10"
      },
      {
        "slug": "atcay",
        "symbol": "ATCAY",
        "name": "ATCAY kinesin light chain interacting caytaxin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atcay"
      },
      {
        "slug": "atg7",
        "symbol": "ATG7",
        "name": "autophagy related 7",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atg7"
      },
      {
        "slug": "atp8a2",
        "symbol": "ATP8A2",
        "name": "ATPase phospholipid transporting 8A2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atp8a2"
      },
      {
        "slug": "ca8",
        "symbol": "CA8",
        "name": "carbonic anhydrase 8 (inactive)",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ca8"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cc2d2a"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cep290"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "name": "centrosomal protein 41",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cep41"
      },
      {
        "slug": "coa7",
        "symbol": "COA7",
        "name": "cytochrome c oxidase assembly factor 7",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/coa7"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/coq8a"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "name": "centrosome and spindle pole associated protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cspp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}