{
  "url": "https://dantelabs.com/nl/genes/idh3b",
  "gene": {
    "slug": "idh3b",
    "symbol": "IDH3B",
    "name": "isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta",
    "hgnc": "HGNC:5385",
    "summary": null,
    "location": "20p13",
    "locusType": "gene with protein product",
    "aliases": [
      "RP46"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000101365",
    "entrezId": 3420,
    "omim": [
      "604526"
    ],
    "uniprot": [
      "O43837"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 2658395,
      "end": 2664216,
      "strand": "-",
      "ensemblTranscript": "ENST00000380843.9",
      "refseqTranscript": "NM_006899.5",
      "ensemblProtein": "ENSP00000370223.4",
      "refseqProtein": "NP_008830.2",
      "exons": [
        {
          "start": 2658395,
          "end": 2658837
        },
        {
          "start": 2659525,
          "end": 2659585
        },
        {
          "start": 2659699,
          "end": 2659793
        },
        {
          "start": 2660030,
          "end": 2660176
        },
        {
          "start": 2660263,
          "end": 2660365
        },
        {
          "start": 2660457,
          "end": 2660590
        },
        {
          "start": 2660697,
          "end": 2660829
        },
        {
          "start": 2660909,
          "end": 2660969
        },
        {
          "start": 2663446,
          "end": 2663566
        },
        {
          "start": 2663660,
          "end": 2663758
        },
        {
          "start": 2663925,
          "end": 2664005
        },
        {
          "start": 2664153,
          "end": 2664216
        }
      ],
      "cds": {
        "start": 2658751,
        "end": 2664188
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 2639041,
      "end": 2644865,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 2161306,
      "end": 3161305,
      "genes": [
        {
          "symbol": "STK35",
          "ensemblId": "ENSG00000125834",
          "biotype": "protein_coding",
          "start": 2101767,
          "end": 2177038,
          "strand": "+",
          "slug": "stk35"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286022",
          "biotype": "protein_coding",
          "start": 2207328,
          "end": 2341059,
          "strand": "+"
        },
        {
          "symbol": "TGM3",
          "ensemblId": "ENSG00000125780",
          "biotype": "protein_coding",
          "start": 2295994,
          "end": 2341177,
          "strand": "+",
          "slug": "tgm3"
        },
        {
          "symbol": "TGM6",
          "ensemblId": "ENSG00000166948",
          "biotype": "protein_coding",
          "start": 2380901,
          "end": 2432753,
          "strand": "+",
          "slug": "tgm6"
        },
        {
          "symbol": "SNRPB",
          "ensemblId": "ENSG00000125835",
          "biotype": "protein_coding",
          "start": 2461634,
          "end": 2470884,
          "strand": "-",
          "slug": "snrpb"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000256566",
          "biotype": "protein_coding",
          "start": 2467212,
          "end": 2508907,
          "strand": "-"
        },
        {
          "symbol": "ZNF343",
          "ensemblId": "ENSG00000088876",
          "biotype": "protein_coding",
          "start": 2471467,
          "end": 2525028,
          "strand": "-",
          "slug": "znf343"
        },
        {
          "symbol": "TMC2",
          "ensemblId": "ENSG00000149488",
          "biotype": "protein_coding",
          "start": 2536573,
          "end": 2643580,
          "strand": "+",
          "slug": "tmc2"
        },
        {
          "symbol": "NOP56",
          "ensemblId": "ENSG00000101361",
          "biotype": "protein_coding",
          "start": 2652460,
          "end": 2658396,
          "strand": "+",
          "slug": "nop56"
        },
        {
          "symbol": "EBF4",
          "ensemblId": "ENSG00000088881",
          "biotype": "protein_coding",
          "start": 2692724,
          "end": 2760228,
          "strand": "+",
          "slug": "ebf4"
        },
        {
          "symbol": "CPXM1",
          "ensemblId": "ENSG00000088882",
          "biotype": "protein_coding",
          "start": 2794069,
          "end": 2800835,
          "strand": "-",
          "slug": "cpxm1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000241690",
          "biotype": "protein_coding",
          "start": 2814968,
          "end": 2818066,
          "strand": "+"
        },
        {
          "symbol": "C20orf141",
          "ensemblId": "ENSG00000258713",
          "biotype": "protein_coding",
          "start": 2814987,
          "end": 2815833,
          "strand": "+",
          "slug": "c20orf141"
        },
        {
          "symbol": "TMEM239",
          "ensemblId": "ENSG00000198326",
          "biotype": "protein_coding",
          "start": 2816302,
          "end": 2820284,
          "strand": "+",
          "slug": "tmem239"
        },
        {
          "symbol": "PCED1A",
          "ensemblId": "ENSG00000132635",
          "biotype": "protein_coding",
          "start": 2835070,
          "end": 2841190,
          "strand": "-",
          "slug": "pced1a"
        },
        {
          "symbol": "VPS16",
          "ensemblId": "ENSG00000215305",
          "biotype": "protein_coding",
          "start": 2840689,
          "end": 2867031,
          "strand": "+",
          "slug": "vps16"
        },
        {
          "symbol": "PTPRA",
          "ensemblId": "ENSG00000132670",
          "biotype": "protein_coding",
          "start": 2870754,
          "end": 3039247,
          "strand": "+",
          "slug": "ptpra"
        },
        {
          "symbol": "GNRH2",
          "ensemblId": "ENSG00000125787",
          "biotype": "protein_coding",
          "start": 3042814,
          "end": 3045747,
          "strand": "+",
          "slug": "gnrh2"
        },
        {
          "symbol": "MRPS26",
          "ensemblId": "ENSG00000125901",
          "biotype": "protein_coding",
          "start": 3046016,
          "end": 3048254,
          "strand": "+",
          "slug": "mrps26"
        },
        {
          "symbol": "OXT",
          "ensemblId": "ENSG00000101405",
          "biotype": "protein_coding",
          "start": 3071476,
          "end": 3072517,
          "strand": "+",
          "slug": "oxt"
        },
        {
          "symbol": "AVP",
          "ensemblId": "ENSG00000101200",
          "biotype": "protein_coding",
          "start": 3082556,
          "end": 3084724,
          "strand": "-",
          "slug": "avp"
        },
        {
          "symbol": "UBOX5",
          "ensemblId": "ENSG00000185019",
          "biotype": "protein_coding",
          "start": 3107573,
          "end": 3160196,
          "strand": "-",
          "slug": "ubox5"
        },
        {
          "symbol": "FASTKD5",
          "ensemblId": "ENSG00000215251",
          "biotype": "protein_coding",
          "start": 3146519,
          "end": 3160196,
          "strand": "-",
          "slug": "fastkd5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "retinitis-pigmentosa",
        "name": "Retinitis Pigmentosa",
        "diseases": [
          {
            "mondoId": "MONDO:0800393",
            "name": "Idh3b-gerelateerde retinopathie",
            "genes": 1,
            "inheritance": null,
            "description": "Een erfelijke retinopathie veroorzaakt door bi-allelische varianten in het IDH3B-gen.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019200",
            "name": "Retinitis Pigmentosa",
            "genes": 77,
            "inheritance": null,
            "description": "Een groep erfelijke retinale dystrofieën met een progressief verlies van staafjes en daarna kegeltjes, wat leidt tot nachtblindheid en geleidelijk verlies van het perifere gezichtsveld.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/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": "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": "decreased-light-and-dark-adapted-electroretinogram-amplitude",
        "name": "Decreased light- and dark-adapted electroretinogram amplitude",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-light-and-dark-adapted-electroretinogram-amplitude"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "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": "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": "obligate",
        "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": "obligate",
        "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": "obligate",
        "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": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "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": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "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": "obligate",
        "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/nl/genes/abca4"
      },
      {
        "slug": "agbl5",
        "symbol": "AGBL5",
        "name": "AGBL carboxypeptidase 5",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/agbl5"
      },
      {
        "slug": "ahr",
        "symbol": "AHR",
        "name": "aryl hydrocarbon receptor",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ahr"
      },
      {
        "slug": "arhgef18",
        "symbol": "ARHGEF18",
        "name": "Rho/Rac guanine nucleotide exchange factor 18",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arhgef18"
      },
      {
        "slug": "arl2bp",
        "symbol": "ARL2BP",
        "name": "ARF like GTPase 2 binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arl2bp"
      },
      {
        "slug": "arl3",
        "symbol": "ARL3",
        "name": "ARF like GTPase 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arl3"
      },
      {
        "slug": "arl6",
        "symbol": "ARL6",
        "name": "ARF like GTPase 6",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arl6"
      },
      {
        "slug": "bbs2",
        "symbol": "BBS2",
        "name": "Bardet-Biedl syndrome 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/bbs2"
      },
      {
        "slug": "best1",
        "symbol": "BEST1",
        "name": "bestrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/best1"
      },
      {
        "slug": "ca4",
        "symbol": "CA4",
        "name": "carbonic anhydrase 4",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ca4"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cc2d2a"
      },
      {
        "slug": "cdhr1",
        "symbol": "CDHR1",
        "name": "cadherin related family member 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cdhr1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}