{
  "url": "https://dantelabs.com/it/genes/slc25a36",
  "gene": {
    "slug": "slc25a36",
    "symbol": "SLC25A36",
    "name": "solute carrier family 25 member 36",
    "hgnc": "HGNC:25554",
    "summary": null,
    "location": "3q23",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ10618",
      "PNC2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000114120",
    "entrezId": 55186,
    "omim": [
      "616149"
    ],
    "uniprot": [
      "Q96CQ1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 140941836,
      "end": 140980995,
      "strand": "+",
      "ensemblTranscript": "ENST00000324194.12",
      "refseqTranscript": "NM_001104647.3",
      "ensemblProtein": "ENSP00000320688.6",
      "refseqProtein": "NP_001098117.1",
      "exons": [
        {
          "start": 140941836,
          "end": 140942095
        },
        {
          "start": 140956527,
          "end": 140956691
        },
        {
          "start": 140959463,
          "end": 140959540
        },
        {
          "start": 140963127,
          "end": 140963227
        },
        {
          "start": 140970927,
          "end": 140970993
        },
        {
          "start": 140973716,
          "end": 140974005
        },
        {
          "start": 140976260,
          "end": 140980995
        }
      ],
      "cds": {
        "start": 140942055,
        "end": 140976453
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 140660672,
      "end": 140698775,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 140461416,
      "end": 141461415,
      "genes": [
        {
          "symbol": "CLSTN2",
          "ensemblId": "ENSG00000158258",
          "biotype": "protein_coding",
          "start": 139935185,
          "end": 140577397,
          "strand": "+",
          "slug": "clstn2"
        },
        {
          "symbol": "TRIM42",
          "ensemblId": "ENSG00000155890",
          "biotype": "protein_coding",
          "start": 140678064,
          "end": 140701150,
          "strand": "+",
          "slug": "trim42"
        },
        {
          "symbol": "SPSB4",
          "ensemblId": "ENSG00000175093",
          "biotype": "protein_coding",
          "start": 141050744,
          "end": 141148613,
          "strand": "+",
          "slug": "spsb4"
        },
        {
          "symbol": "PXYLP1",
          "ensemblId": "ENSG00000155893",
          "biotype": "protein_coding",
          "start": 141228726,
          "end": 141367753,
          "strand": "+",
          "slug": "pxylp1"
        },
        {
          "symbol": "ZBTB38",
          "ensemblId": "ENSG00000177311",
          "biotype": "protein_coding",
          "start": 141324154,
          "end": 141449792,
          "strand": "+",
          "slug": "zbtb38"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hyperinsulinism",
        "name": "Iperinsulinismo",
        "diseases": [
          {
            "mondoId": "MONDO:0859362",
            "name": "Ipoglicemia iperinsulinemica familiare, tipo 8",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Ipoglicemia iperinsulinemica familiare causata da varianti di SLC25A36.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/hyperinsulinism"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "expressive-language-delay",
        "name": "Communication delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/expressive-language-delay"
      },
      {
        "slug": "elevated-circulating-c-peptide-concentration",
        "name": "Elevated circulating C-peptide concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-peptide-concentration"
      },
      {
        "slug": "elevated-circulating-thyroid-stimulating-hormone-concentration",
        "name": "Elevated circulating thyroid-stimulating hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-thyroid-stimulating-hormone-concentration"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "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": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "hypoglycemic-seizures",
        "name": "Hypoglycemic seizures",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycemic-seizures"
      },
      {
        "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": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}