{
  "url": "https://dantelabs.com/hu/genes/dnajc12",
  "gene": {
    "slug": "dnajc12",
    "symbol": "DNAJC12",
    "name": "DnaJ heat shock protein family (Hsp40) member C12",
    "hgnc": "HGNC:28908",
    "summary": null,
    "location": "10q21.3",
    "locusType": "gene with protein product",
    "aliases": [
      "JDP1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000108176",
    "entrezId": 56521,
    "omim": [
      "606060"
    ],
    "uniprot": [
      "Q9UKB3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 67796669,
      "end": 67838188,
      "strand": "-",
      "ensemblTranscript": "ENST00000225171.7",
      "refseqTranscript": "NM_021800.3",
      "ensemblProtein": "ENSP00000225171.2",
      "refseqProtein": "NP_068572.1",
      "exons": [
        {
          "start": 67796669,
          "end": 67797210
        },
        {
          "start": 67805583,
          "end": 67805787
        },
        {
          "start": 67811524,
          "end": 67811663
        },
        {
          "start": 67823314,
          "end": 67823392
        },
        {
          "start": 67837934,
          "end": 67838188
        }
      ],
      "cds": {
        "start": 67797116,
        "end": 67838011
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 69556427,
      "end": 69597924,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 67317429,
      "end": 68317428,
      "genes": [
        {
          "symbol": "CTNNA3",
          "ensemblId": "ENSG00000183230",
          "biotype": "protein_coding",
          "start": 65912457,
          "end": 67763637,
          "strand": "-",
          "slug": "ctnna3"
        },
        {
          "symbol": "SIRT1",
          "ensemblId": "ENSG00000096717",
          "biotype": "protein_coding",
          "start": 67884647,
          "end": 67918392,
          "strand": "+",
          "slug": "sirt1"
        },
        {
          "symbol": "HERC4",
          "ensemblId": "ENSG00000148634",
          "biotype": "protein_coding",
          "start": 67921899,
          "end": 68075353,
          "strand": "-",
          "slug": "herc4"
        },
        {
          "symbol": "MYPN",
          "ensemblId": "ENSG00000138347",
          "biotype": "protein_coding",
          "start": 68087897,
          "end": 68212017,
          "strand": "+",
          "slug": "mypn"
        },
        {
          "symbol": "ATOH7",
          "ensemblId": "ENSG00000179774",
          "biotype": "protein_coding",
          "start": 68230595,
          "end": 68232113,
          "strand": "-",
          "slug": "atoh7"
        },
        {
          "symbol": "PBLD",
          "ensemblId": "ENSG00000108187",
          "biotype": "protein_coding",
          "start": 68262014,
          "end": 68334114,
          "strand": "-",
          "slug": "pbld"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "bh4-deficiency-and-neurotransmitter-disorders",
        "name": "BH4 Deficiency & Monoamine Neurotransmitter Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0044304",
            "name": "Hyperphenylalaninemia due to DNAJC12 Deficiency",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Caused by variants in DNAJC12, which can raise phenylalanine and cause neurotransmitter deficiency with movement and developmental problems.",
            "management": "Knowing allows treatment with BH4 and neurotransmitter precursors, which can improve outcomes.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/bh4-deficiency-and-neurotransmitter-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "oculogyric-crisis",
        "name": "Oculogyric crisis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oculogyric-crisis"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/broad-based-gait"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}