{
  "url": "https://dantelabs.com/sv/genes/ptrhd1",
  "gene": {
    "slug": "ptrhd1",
    "symbol": "PTRHD1",
    "name": "peptidyl-tRNA hydrolase domain containing 1",
    "hgnc": "HGNC:33782",
    "summary": null,
    "location": "2p23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "LOC391356"
    ],
    "previousSymbols": [
      "C2orf79"
    ],
    "ensemblId": "ENSG00000184924",
    "entrezId": 391356,
    "omim": [
      "617342"
    ],
    "uniprot": [
      "Q6GMV3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 24789728,
      "end": 24793391,
      "strand": "-",
      "ensemblTranscript": "ENST00000328379.6",
      "refseqTranscript": "NM_001013663.2",
      "ensemblProtein": "ENSP00000330389.4",
      "refseqProtein": "NP_001013685.1",
      "exons": [
        {
          "start": 24789728,
          "end": 24790581
        },
        {
          "start": 24793126,
          "end": 24793391
        }
      ],
      "cds": {
        "start": 24790411,
        "end": 24793377
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 25012603,
      "end": 25016251,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 24291560,
      "end": 25291559,
      "genes": [
        {
          "symbol": "ITSN2",
          "ensemblId": "ENSG00000198399",
          "biotype": "protein_coding",
          "start": 24202864,
          "end": 24360807,
          "strand": "-",
          "slug": "itsn2"
        },
        {
          "symbol": "NCOA1",
          "ensemblId": "ENSG00000084676",
          "biotype": "protein_coding",
          "start": 24490983,
          "end": 24770702,
          "strand": "+",
          "slug": "ncoa1"
        },
        {
          "symbol": "CENPO",
          "ensemblId": "ENSG00000138092",
          "biotype": "protein_coding",
          "start": 24793100,
          "end": 24822376,
          "strand": "+",
          "slug": "cenpo"
        },
        {
          "symbol": "ADCY3",
          "ensemblId": "ENSG00000138031",
          "biotype": "protein_coding",
          "start": 24819169,
          "end": 24920299,
          "strand": "-",
          "slug": "adcy3"
        },
        {
          "symbol": "DNAJC27",
          "ensemblId": "ENSG00000115137",
          "biotype": "protein_coding",
          "start": 24943636,
          "end": 24972094,
          "strand": "-",
          "slug": "dnajc27"
        },
        {
          "symbol": "EFR3B",
          "ensemblId": "ENSG00000084710",
          "biotype": "protein_coding",
          "start": 25042048,
          "end": 25159135,
          "strand": "+",
          "slug": "efr3b"
        },
        {
          "symbol": "POMC",
          "ensemblId": "ENSG00000115138",
          "biotype": "protein_coding",
          "start": 25160361,
          "end": 25168952,
          "strand": "-",
          "slug": "pomc"
        },
        {
          "symbol": "DNMT3A",
          "ensemblId": "ENSG00000119772",
          "biotype": "protein_coding",
          "start": 25227855,
          "end": 25342590,
          "strand": "-",
          "slug": "dnmt3a"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "amplification-of-sexual-behavior",
        "name": "Amplification of sexual behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/amplification-of-sexual-behavior"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "postural-instability",
        "name": "Balance impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postural-instability"
      },
      {
        "slug": "cogwheel-rigidity",
        "name": "Cogwheel rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cogwheel-rigidity"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "mask-like-facies",
        "name": "Expressionless face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mask-like-facies"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "freezing-of-gait",
        "name": "Freezing of gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/freezing-of-gait"
      },
      {
        "slug": "froment-sign",
        "name": "Froment sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/froment-sign"
      },
      {
        "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": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "resting-tremor",
        "name": "Resting tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/resting-tremor"
      },
      {
        "slug": "restlessness",
        "name": "Restlessness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/restlessness"
      },
      {
        "slug": "sensory-axonal-neuropathy",
        "name": "Sensory axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensory-axonal-neuropathy"
      },
      {
        "slug": "short-attention-span",
        "name": "Short attention span",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-attention-span"
      },
      {
        "slug": "shuffling-gait",
        "name": "Shuffled walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/shuffling-gait"
      },
      {
        "slug": "slow-saccadic-eye-movements",
        "name": "Slow eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slow-saccadic-eye-movements"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "slug": "bruxism",
        "name": "Teeth grinding",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bruxism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}