{
  "url": "https://dantelabs.com/no/genes/adsl",
  "gene": {
    "slug": "adsl",
    "symbol": "ADSL",
    "name": "adenylosuccinate lyase",
    "hgnc": "HGNC:291",
    "summary": null,
    "location": "22q13.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000239900",
    "entrezId": 158,
    "omim": [
      "608222"
    ],
    "uniprot": [
      "P30566"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 40346500,
      "end": 40369367,
      "strand": "+",
      "ensemblTranscript": "ENST00000623063.3",
      "refseqTranscript": "NM_000026.4",
      "ensemblProtein": "ENSP00000485525.1",
      "refseqProtein": "NP_000017.1",
      "exons": [
        {
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        {
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        }
      ],
      "cds": {
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        "end": 40366522
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
      "start": 40742507,
      "end": 40786467,
      "strand": "+"
    },
    "neighbourhood": {
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      "end": 40857933,
      "genes": [
        {
          "symbol": "ENTHD1",
          "ensemblId": "ENSG00000176177",
          "biotype": "protein_coding",
          "start": 39743044,
          "end": 39893864,
          "strand": "-",
          "slug": "enthd1"
        },
        {
          "symbol": "GRAP2",
          "ensemblId": "ENSG00000100351",
          "biotype": "protein_coding",
          "start": 39901084,
          "end": 39973721,
          "strand": "+",
          "slug": "grap2"
        },
        {
          "symbol": "TMA7B",
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          "biotype": "protein_coding",
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          "end": 39964905,
          "strand": "+",
          "slug": "tma7b"
        },
        {
          "symbol": "SACK1F",
          "ensemblId": "ENSG00000133477",
          "biotype": "protein_coding",
          "start": 39994917,
          "end": 40043534,
          "strand": "+",
          "slug": "sack1f"
        },
        {
          "symbol": "TNRC6B",
          "ensemblId": "ENSG00000100354",
          "biotype": "protein_coding",
          "start": 40044756,
          "end": 40335808,
          "strand": "+",
          "slug": "tnrc6b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284431",
          "biotype": "protein_coding",
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          "end": 40410054,
          "strand": "+"
        },
        {
          "symbol": "SGSM3",
          "ensemblId": "ENSG00000100359",
          "biotype": "protein_coding",
          "start": 40370564,
          "end": 40410837,
          "strand": "+",
          "slug": "sgsm3"
        },
        {
          "symbol": "MRTFA",
          "ensemblId": "ENSG00000196588",
          "biotype": "protein_coding",
          "start": 40410281,
          "end": 40636726,
          "strand": "-",
          "slug": "mrtfa"
        },
        {
          "symbol": "MCHR1",
          "ensemblId": "ENSG00000128285",
          "biotype": "protein_coding",
          "start": 40679273,
          "end": 40682812,
          "strand": "+",
          "slug": "mchr1"
        },
        {
          "symbol": "SLC25A17",
          "ensemblId": "ENSG00000100372",
          "biotype": "protein_coding",
          "start": 40769630,
          "end": 40819402,
          "strand": "-",
          "slug": "slc25a17"
        },
        {
          "symbol": "ST13",
          "ensemblId": "ENSG00000100380",
          "biotype": "protein_coding",
          "start": 40824445,
          "end": 40856919,
          "strand": "-",
          "slug": "st13"
        },
        {
          "symbol": "XPNPEP3",
          "ensemblId": "ENSG00000196236",
          "biotype": "protein_coding",
          "start": 40857054,
          "end": 40932815,
          "strand": "+",
          "slug": "xpnpep3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "purine-and-pyrimidine-metabolism-disorders",
        "name": "Stoffskifteforstyrrelser for purin og pyrimidin",
        "diseases": [
          {
            "mondoId": "MONDO:0007068",
            "name": "Adenylosuccinat-lyase-mangel",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Forårsaket av varianter i ADSL, som kan gi forsinket utvikling, epileptiske anfall og autistiske trekk.",
            "management": "Når du vet dette, kan et diagnostisk søk ta slutt, og det kan veilede behandlingen av anfall.",
            "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/no/conditions/purine-and-pyrimidine-metabolism-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "cerebral-hypomyelination",
        "name": "Cerebral hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-hypomyelination"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "elevated-urinary-succinyladenosine-level",
        "name": "Elevated urinary succinyladenosine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-succinyladenosine-level"
      },
      {
        "slug": "elevated-urinary-succinylaminoimidazole-carboxamide-riboside-level",
        "name": "Elevated urinary succinylaminoimidazole carboxamide riboside level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-succinylaminoimidazole-carboxamide-riboside-level"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "flat-occiput",
        "name": "Flat back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/flat-occiput"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "happy-demeanor",
        "name": "Happy demeanor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/happy-demeanor"
      },
      {
        "slug": "hypointensity-of-cerebral-white-matter-on-mri",
        "name": "Hypointensity of cerebral white matter on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypointensity-of-cerebral-white-matter-on-mri"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "inappropriate-laughter",
        "name": "Inappropriate laughter",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/inappropriate-laughter"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "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"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/opisthotonus"
      },
      {
        "slug": "hemiplegia",
        "name": "Paralysis on one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemiplegia"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "prominent-metopic-ridge",
        "name": "Prominent metopic ridge",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prominent-metopic-ridge"
      },
      {
        "slug": "self-mutilation",
        "name": "Self-mutilation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/self-mutilation"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "smooth-philtrum",
        "name": "Smooth philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/smooth-philtrum"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "wide-mouth",
        "name": "Wide mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/wide-mouth"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}