{
  "url": "https://dantelabs.com/ro/genes/pdss1",
  "gene": {
    "slug": "pdss1",
    "symbol": "PDSS1",
    "name": "decaprenyl diphosphate synthase subunit 1",
    "hgnc": "HGNC:17759",
    "summary": null,
    "location": "10p12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "TPT",
      "COQ1",
      "COQ1A"
    ],
    "previousSymbols": [
      "TPRT"
    ],
    "ensemblId": "ENSG00000148459",
    "entrezId": 23590,
    "omim": [
      "607429"
    ],
    "uniprot": [
      "Q5T2R2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 26697701,
      "end": 26746798,
      "strand": "+",
      "ensemblTranscript": "ENST00000376215.10",
      "refseqTranscript": "NM_014317.5",
      "ensemblProtein": "ENSP00000365388.5",
      "refseqProtein": "NP_055132.2",
      "exons": [
        {
          "start": 26697701,
          "end": 26697840
        },
        {
          "start": 26702162,
          "end": 26702194
        },
        {
          "start": 26704677,
          "end": 26704741
        },
        {
          "start": 26705286,
          "end": 26705394
        },
        {
          "start": 26709638,
          "end": 26709768
        },
        {
          "start": 26720218,
          "end": 26720359
        },
        {
          "start": 26723806,
          "end": 26723917
        },
        {
          "start": 26724014,
          "end": 26724123
        },
        {
          "start": 26735240,
          "end": 26735320
        },
        {
          "start": 26735466,
          "end": 26735579
        },
        {
          "start": 26742497,
          "end": 26742577
        },
        {
          "start": 26746333,
          "end": 26746798
        }
      ],
      "cds": {
        "start": 26697712,
        "end": 26746473
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 26986588,
      "end": 27035727,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 26222250,
      "end": 27222249,
      "genes": [
        {
          "symbol": "GAD2",
          "ensemblId": "ENSG00000136750",
          "biotype": "protein_coding",
          "start": 26216251,
          "end": 26304558,
          "strand": "+",
          "slug": "gad2"
        },
        {
          "symbol": "APBB1IP",
          "ensemblId": "ENSG00000077420",
          "biotype": "protein_coding",
          "start": 26438160,
          "end": 26568449,
          "strand": "+",
          "slug": "apbb1ip"
        },
        {
          "symbol": "ABI1",
          "ensemblId": "ENSG00000136754",
          "biotype": "protein_coding",
          "start": 26745266,
          "end": 26861094,
          "strand": "-",
          "slug": "abi1"
        },
        {
          "symbol": "ANKRD26",
          "ensemblId": "ENSG00000107890",
          "biotype": "protein_coding",
          "start": 26973793,
          "end": 27100520,
          "strand": "-",
          "slug": "ankrd26"
        },
        {
          "symbol": "YME1L1",
          "ensemblId": "ENSG00000136758",
          "biotype": "protein_coding",
          "start": 27107777,
          "end": 27155266,
          "strand": "-",
          "slug": "yme1l1"
        },
        {
          "symbol": "MASTL",
          "ensemblId": "ENSG00000120539",
          "biotype": "protein_coding",
          "start": 27154425,
          "end": 27187953,
          "strand": "+",
          "slug": "mastl"
        },
        {
          "symbol": "ACBD5",
          "ensemblId": "ENSG00000107897",
          "biotype": "protein_coding",
          "start": 27168135,
          "end": 27243046,
          "strand": "-",
          "slug": "acbd5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Mitochondriale primare",
        "diseases": [
          {
            "mondoId": "MONDO:0018151",
            "name": "Deficit de coenzima Q10",
            "genes": 8,
            "inheritance": "autosomal-recessive",
            "description": "Cauzat de variante în genele necesare pentru producerea coenzimei Q10, precum COQ2, COQ8A și PDSS2, care pot provoca boală renală, probleme de echilibru, slăbiciune musculară sau boală a creierului.",
            "management": "Cunoașterea acestui rezultat are consecințe practice: deficitul primar de coenzima Q10 poate răspunde la suplimente de coenzima Q10 în doze mari, mai ales când tratamentul începe devreme.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "bulimia",
        "name": "Binge and purge",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bulimia"
      },
      {
        "slug": "elevated-lactate-pyruvate-ratio",
        "name": "Elevated lactate:pyruvate ratio",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-lactate-pyruvate-ratio"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "livedo-reticularis",
        "name": "Livedo reticularis",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/livedo-reticularis"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "overweight",
        "name": "Overweight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/overweight"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      }
    ],
    "related": [
      {
        "slug": "coq2",
        "symbol": "COQ2",
        "name": "coenzyme Q2, polyprenyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/coq2"
      },
      {
        "slug": "coq4",
        "symbol": "COQ4",
        "name": "coenzyme Q4",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/coq4"
      },
      {
        "slug": "coq6",
        "symbol": "COQ6",
        "name": "coenzyme Q6, monooxygenase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/coq6"
      },
      {
        "slug": "coq7",
        "symbol": "COQ7",
        "name": "coenzyme Q7, hydroxylase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/coq7"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/coq8a"
      },
      {
        "slug": "coq9",
        "symbol": "COQ9",
        "name": "coenzyme Q9",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/coq9"
      },
      {
        "slug": "pdss2",
        "symbol": "PDSS2",
        "name": "decaprenyl diphosphate synthase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/pdss2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}