{
  "url": "https://dantelabs.com/sv/genes/foxi1",
  "gene": {
    "slug": "foxi1",
    "symbol": "FOXI1",
    "name": "forkhead box I1",
    "hgnc": "HGNC:3815",
    "summary": null,
    "location": "5q35.1",
    "locusType": "gene with protein product",
    "aliases": [
      "FREAC6"
    ],
    "previousSymbols": [
      "FKHL10"
    ],
    "ensemblId": "ENSG00000168269",
    "entrezId": 2299,
    "omim": [
      "601093"
    ],
    "uniprot": [
      "Q12951"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 170105897,
      "end": 170109734,
      "strand": "+",
      "ensemblTranscript": "ENST00000306268.8",
      "refseqTranscript": "NM_012188.5",
      "ensemblProtein": "ENSP00000304286.5",
      "refseqProtein": "NP_036320.2",
      "exons": [
        {
          "start": 170105897,
          "end": 170106531
        },
        {
          "start": 170108049,
          "end": 170109734
        }
      ],
      "cds": {
        "start": 170105958,
        "end": 170108611
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 169532901,
      "end": 169536727,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 169607816,
      "end": 170607815,
      "genes": [
        {
          "symbol": "DOCK2",
          "ensemblId": "ENSG00000134516",
          "biotype": "protein_coding",
          "start": 169637224,
          "end": 170083382,
          "strand": "+",
          "slug": "dock2"
        },
        {
          "symbol": "INSYN2B",
          "ensemblId": "ENSG00000204767",
          "biotype": "protein_coding",
          "start": 169861303,
          "end": 169980507,
          "strand": "-",
          "slug": "insyn2b"
        },
        {
          "symbol": "C5orf58",
          "ensemblId": "ENSG00000234511",
          "biotype": "protein_coding",
          "start": 170228881,
          "end": 170252575,
          "strand": "+",
          "slug": "c5orf58"
        },
        {
          "symbol": "LCP2",
          "ensemblId": "ENSG00000043462",
          "biotype": "protein_coding",
          "start": 170246233,
          "end": 170297845,
          "strand": "-",
          "slug": "lcp2"
        },
        {
          "symbol": "KCNIP1",
          "ensemblId": "ENSG00000182132",
          "biotype": "protein_coding",
          "start": 170353487,
          "end": 170736632,
          "strand": "+",
          "slug": "kcnip1"
        },
        {
          "symbol": "KCNMB1",
          "ensemblId": "ENSG00000145936",
          "biotype": "protein_coding",
          "start": 170364749,
          "end": 170480428,
          "strand": "-",
          "slug": "kcnmb1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "renal-tubular-acidosis",
        "name": "Renal tubulär acidos",
        "diseases": [
          {
            "mondoId": "MONDO:0015827",
            "name": "Distal renal tubulär acidos",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "En ärftlig nedsatt förmåga hos njurens samlingsrör att utsöndra syra, orsakad av varianter i SLC4A1, ATP6V1B1, ATP6V0A4 och andra gener; vissa former orsakar dessutom hörselnedsättning.",
            "management": "Alkalibehandling kan förebygga njurförkalkning och tillväxtproblem, och vissa former motiverar en hörselundersökning.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/renal-tubular-acidosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormal-vestibular-function",
        "name": "Abnormal vestibular function",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/abnormal-vestibular-function"
      },
      {
        "slug": "abnormality-of-the-inner-ear",
        "name": "Abnormality of the inner ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-inner-ear"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "cochlear-malformation",
        "name": "Cochlear malformation",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/cochlear-malformation"
      },
      {
        "slug": "compensated-hypothyroidism",
        "name": "Compensated hypothyroidism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/compensated-hypothyroidism"
      },
      {
        "slug": "congenital-sensorineural-hearing-impairment",
        "name": "Congenital sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "hyperparathyroidism",
        "name": "Elevated blood parathyroid hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperparathyroidism"
      },
      {
        "slug": "elevated-circulating-thyroglobulin-concentration",
        "name": "Elevated circulating thyroglobulin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-thyroglobulin-concentration"
      },
      {
        "slug": "goiter",
        "name": "Enlarged thyroid gland in neck",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/goiter"
      },
      {
        "slug": "enlarged-vestibular-aqueduct",
        "name": "Enlarged vestibular aqueduct",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enlarged-vestibular-aqueduct"
      },
      {
        "slug": "hypoplasia-of-the-cochlea",
        "name": "Hypoplasia of the cochlea",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-cochlea"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "tracheal-stenosis",
        "name": "Narrowing of windpipe",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tracheal-stenosis"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "thyroid-carcinoma",
        "name": "Thyroid carcinoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thyroid-carcinoma"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      }
    ],
    "related": [
      {
        "slug": "atp6v0a4",
        "symbol": "ATP6V0A4",
        "name": "ATPase H+ transporting V0 subunit a4",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp6v0a4"
      },
      {
        "slug": "atp6v1b1",
        "symbol": "ATP6V1B1",
        "name": "ATPase H+ transporting V1 subunit B1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp6v1b1"
      },
      {
        "slug": "slc4a1",
        "symbol": "SLC4A1",
        "name": "solute carrier family 4 member 1 (Diego blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/slc4a1"
      },
      {
        "slug": "slc4a3",
        "symbol": "SLC4A3",
        "name": "solute carrier family 4 member 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/slc4a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}