{
  "url": "https://dantelabs.com/genes/ap1s1",
  "gene": {
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    "symbol": "AP1S1",
    "name": "adaptor related protein complex 1 subunit sigma 1",
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        {
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        {
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        {
          "symbol": "SRRT",
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        {
          "symbol": "UFSP1",
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        {
          "symbol": "ACHE",
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        {
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        {
          "symbol": "MUC12",
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        {
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        {
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        },
        {
          "symbol": "SERPINE1",
          "ensemblId": "ENSG00000106366",
          "biotype": "protein_coding",
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          "slug": "serpine1"
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        {
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        {
          "symbol": "NAT16",
          "ensemblId": "ENSG00000167011",
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        {
          "symbol": "MOGAT3",
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        {
          "symbol": "PLOD3",
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        {
          "symbol": "ZNHIT1",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "znhit1"
        },
        {
          "symbol": "CLDN15",
          "ensemblId": "ENSG00000106404",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "cldn15"
        },
        {
          "symbol": "FIS1",
          "ensemblId": "ENSG00000214253",
          "biotype": "protein_coding",
          "start": 101239458,
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          "slug": "fis1"
        },
        {
          "symbol": "IFT22",
          "ensemblId": "ENSG00000128581",
          "biotype": "protein_coding",
          "start": 101310914,
          "end": 101321831,
          "strand": "-",
          "slug": "ift22"
        },
        {
          "symbol": "COL26A1",
          "ensemblId": "ENSG00000160963",
          "biotype": "protein_coding",
          "start": 101362407,
          "end": 101559029,
          "strand": "+",
          "slug": "col26a1"
        },
        {
          "symbol": "MYL10",
          "ensemblId": "ENSG00000106436",
          "biotype": "protein_coding",
          "start": 101613330,
          "end": 101629296,
          "strand": "-",
          "slug": "myl10"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-copper-metabolism",
        "name": "Disorder of Copper Metabolism",
        "diseases": [
          {
            "mondoId": "MONDO:0017762",
            "name": "Disorder Of Copper Metabolism",
            "genes": 3,
            "inheritance": null,
            "description": "An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/disorder-of-copper-metabolism"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-intestine-morphology",
        "name": "Abnormality of the intestine",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-intestine-morphology"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "decreased-circulating-copper-concentration",
        "name": "Copper deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-copper-concentration"
      },
      {
        "slug": "decreased-circulating-ceruloplasmin-concentration",
        "name": "Decreased serum ceruloplasmin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-ceruloplasmin-concentration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "intrahepatic-cholestasis",
        "name": "Impaired release of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrahepatic-cholestasis"
      },
      {
        "slug": "increased-circulating-very-long-chain-fatty-acid-concentration",
        "name": "Increased circulating very long-chain fatty acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-very-long-chain-fatty-acid-concentration"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "jejunal-atresia",
        "name": "Jejunal atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/jejunal-atresia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "microcolon",
        "name": "Microcolon",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcolon"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "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": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "volvulus",
        "name": "Volvulus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/volvulus"
      }
    ],
    "related": [
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "atp7b",
        "symbol": "ATP7B",
        "name": "ATPase copper transporting beta",
        "shared": 1,
        "url": "https://dantelabs.com/genes/atp7b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}