{
  "url": "https://dantelabs.com/fr/genes/idh3a",
  "gene": {
    "slug": "idh3a",
    "symbol": "IDH3A",
    "name": "isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha",
    "hgnc": "HGNC:5384",
    "summary": null,
    "location": "15q25.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000166411",
    "entrezId": 3419,
    "omim": [
      "601149"
    ],
    "uniprot": [
      "P50213"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 78149362,
      "end": 78171945,
      "strand": "+",
      "ensemblTranscript": "ENST00000299518.7",
      "refseqTranscript": "NM_005530.3",
      "ensemblProtein": "ENSP00000299518.2",
      "refseqProtein": "NP_005521.1",
      "exons": [
        {
          "start": 78149362,
          "end": 78149430
        },
        {
          "start": 78155213,
          "end": 78155275
        },
        {
          "start": 78157548,
          "end": 78157631
        },
        {
          "start": 78160092,
          "end": 78160206
        },
        {
          "start": 78161581,
          "end": 78161768
        },
        {
          "start": 78162234,
          "end": 78162367
        },
        {
          "start": 78163507,
          "end": 78163609
        },
        {
          "start": 78163716,
          "end": 78163780
        },
        {
          "start": 78164992,
          "end": 78165076
        },
        {
          "start": 78166150,
          "end": 78166302
        },
        {
          "start": 78168922,
          "end": 78171945
        }
      ],
      "cds": {
        "start": 78149404,
        "end": 78169005
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 78423840,
      "end": 78464291,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 77660654,
      "end": 78660653,
      "genes": [
        {
          "symbol": "LINGO1",
          "ensemblId": "ENSG00000169783",
          "biotype": "protein_coding",
          "start": 77613027,
          "end": 77820900,
          "strand": "-",
          "slug": "lingo1"
        },
        {
          "symbol": "TBC1D2B",
          "ensemblId": "ENSG00000167202",
          "biotype": "protein_coding",
          "start": 77984036,
          "end": 78077752,
          "strand": "-",
          "slug": "tbc1d2b"
        },
        {
          "symbol": "SH2D7",
          "ensemblId": "ENSG00000183476",
          "biotype": "protein_coding",
          "start": 78077808,
          "end": 78104370,
          "strand": "+",
          "slug": "sh2d7"
        },
        {
          "symbol": "CIB2",
          "ensemblId": "ENSG00000136425",
          "biotype": "protein_coding",
          "start": 78102300,
          "end": 78131565,
          "strand": "-",
          "slug": "cib2"
        },
        {
          "symbol": "ACSBG1",
          "ensemblId": "ENSG00000103740",
          "biotype": "protein_coding",
          "start": 78167468,
          "end": 78245688,
          "strand": "-",
          "slug": "acsbg1"
        },
        {
          "symbol": "DNAJA4",
          "ensemblId": "ENSG00000140403",
          "biotype": "protein_coding",
          "start": 78264086,
          "end": 78282196,
          "strand": "+",
          "slug": "dnaja4"
        },
        {
          "symbol": "SKIC8",
          "ensemblId": "ENSG00000140395",
          "biotype": "protein_coding",
          "start": 78269375,
          "end": 78306573,
          "strand": "-",
          "slug": "skic8"
        },
        {
          "symbol": "CRABP1",
          "ensemblId": "ENSG00000166426",
          "biotype": "protein_coding",
          "start": 78340260,
          "end": 78348250,
          "strand": "+",
          "slug": "crabp1"
        },
        {
          "symbol": "IREB2",
          "ensemblId": "ENSG00000136381",
          "biotype": "protein_coding",
          "start": 78437431,
          "end": 78501453,
          "strand": "+",
          "slug": "ireb2"
        },
        {
          "symbol": "HYKK",
          "ensemblId": "ENSG00000188266",
          "biotype": "protein_coding",
          "start": 78507383,
          "end": 78537657,
          "strand": "+",
          "slug": "hykk"
        },
        {
          "symbol": "PSMA4",
          "ensemblId": "ENSG00000041357",
          "biotype": "protein_coding",
          "start": 78540089,
          "end": 78560795,
          "strand": "+",
          "slug": "psma4"
        },
        {
          "symbol": "CHRNA5",
          "ensemblId": "ENSG00000169684",
          "biotype": "protein_coding",
          "start": 78565484,
          "end": 78596443,
          "strand": "+",
          "slug": "chrna5"
        },
        {
          "symbol": "CHRNA3",
          "ensemblId": "ENSG00000080644",
          "biotype": "protein_coding",
          "start": 78593052,
          "end": 78621331,
          "strand": "-",
          "slug": "chrna3"
        },
        {
          "symbol": "CHRNB4",
          "ensemblId": "ENSG00000117971",
          "biotype": "protein_coding",
          "start": 78621941,
          "end": 78727754,
          "strand": "-",
          "slug": "chrnb4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "retinitis-pigmentosa",
        "name": "Rétinite pigmentaire",
        "diseases": [
          {
            "mondoId": "MONDO:0019200",
            "name": "Rétinite pigmentaire",
            "genes": 77,
            "inheritance": null,
            "description": "Un groupe de dystrophies rétiniennes héréditaires caractérisées par la perte progressive des photorécepteurs (bâtonnets, puis cônes), entraînant une cécité nocturne et une perte graduelle de la vision périphérique.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/retinitis-pigmentosa"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-central-response-of-multifocal-electroretinogram",
        "name": "Abnormal central response of multifocal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-central-response-of-multifocal-electroretinogram"
      },
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "abnormal-full-field-electroretinogram",
        "name": "Abnormal full-field electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormal-retinal-vascular-morphology",
        "name": "Abnormality of retina blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-vascular-morphology"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cystoid-macular-edema",
        "name": "Cystoid macular edema",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cystoid-macular-edema"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "hyperautofluorescent-retinal-lesion",
        "name": "Hyperautofluorescent retinal lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperautofluorescent-retinal-lesion"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "slug": "peripheral-visual-field-loss",
        "name": "Loss of peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-visual-field-loss"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-drusen",
        "name": "Optic disc drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-drusen"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "photopsia",
        "name": "Photopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/photopsia"
      },
      {
        "slug": "photoreceptor-outer-segment-loss-on-macular-oct",
        "name": "Photoreceptor outer segment loss on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photoreceptor-outer-segment-loss-on-macular-oct"
      },
      {
        "slug": "posterior-subcapsular-cataract",
        "name": "Posterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract"
      },
      {
        "slug": "progressive-night-blindness",
        "name": "Progressive night blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-night-blindness"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "retinal-pigment-epithelial-atrophy",
        "name": "Retinal pigment epithelial atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-atrophy"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "abca4",
        "symbol": "ABCA4",
        "name": "ATP binding cassette subfamily A member 4",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/abca4"
      },
      {
        "slug": "agbl5",
        "symbol": "AGBL5",
        "name": "AGBL carboxypeptidase 5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/agbl5"
      },
      {
        "slug": "ahr",
        "symbol": "AHR",
        "name": "aryl hydrocarbon receptor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ahr"
      },
      {
        "slug": "arhgef18",
        "symbol": "ARHGEF18",
        "name": "Rho/Rac guanine nucleotide exchange factor 18",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arhgef18"
      },
      {
        "slug": "arl2bp",
        "symbol": "ARL2BP",
        "name": "ARF like GTPase 2 binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arl2bp"
      },
      {
        "slug": "arl3",
        "symbol": "ARL3",
        "name": "ARF like GTPase 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arl3"
      },
      {
        "slug": "arl6",
        "symbol": "ARL6",
        "name": "ARF like GTPase 6",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arl6"
      },
      {
        "slug": "bbs2",
        "symbol": "BBS2",
        "name": "Bardet-Biedl syndrome 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/bbs2"
      },
      {
        "slug": "best1",
        "symbol": "BEST1",
        "name": "bestrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/best1"
      },
      {
        "slug": "ca4",
        "symbol": "CA4",
        "name": "carbonic anhydrase 4",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ca4"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cc2d2a"
      },
      {
        "slug": "cdhr1",
        "symbol": "CDHR1",
        "name": "cadherin related family member 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cdhr1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}