{
  "url": "https://dantelabs.com/no/genes/mocs2",
  "gene": {
    "slug": "mocs2",
    "symbol": "MOCS2",
    "name": "molybdenum cofactor synthesis 2",
    "hgnc": "HGNC:7193",
    "summary": null,
    "location": "5q11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "MOCO1",
      "MOCS2A",
      "MOCS2B"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000164172",
    "entrezId": 4338,
    "omim": [
      "603708"
    ],
    "uniprot": [
      "O96007",
      "O96033"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 53095679,
      "end": 53109757,
      "strand": "-",
      "ensemblTranscript": "ENST00000396954.8",
      "refseqTranscript": "NM_004531.5",
      "ensemblProtein": "ENSP00000380157.3",
      "refseqProtein": "NP_004522.1",
      "exons": [
        {
          "start": 53095679,
          "end": 53098667
        },
        {
          "start": 53100411,
          "end": 53100534
        },
        {
          "start": 53101359,
          "end": 53101509
        },
        {
          "start": 53102097,
          "end": 53102224
        },
        {
          "start": 53107077,
          "end": 53107221
        },
        {
          "start": 53108522,
          "end": 53108643
        },
        {
          "start": 53109251,
          "end": 53109757
        }
      ],
      "cds": {
        "start": 53098602,
        "end": 53107174
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 52391509,
      "end": 52405893,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 52602718,
      "end": 53602717,
      "genes": [
        {
          "symbol": "PELO",
          "ensemblId": "ENSG00000152684",
          "biotype": "protein_coding",
          "start": 52787621,
          "end": 52807447,
          "strand": "+",
          "slug": "pelo"
        },
        {
          "symbol": "ITGA1",
          "ensemblId": "ENSG00000213949",
          "biotype": "protein_coding",
          "start": 52787621,
          "end": 52961951,
          "strand": "+",
          "slug": "itga1"
        },
        {
          "symbol": "ITGA2",
          "ensemblId": "ENSG00000164171",
          "biotype": "protein_coding",
          "start": 52989082,
          "end": 53094779,
          "strand": "+",
          "slug": "itga2"
        },
        {
          "symbol": "FST",
          "ensemblId": "ENSG00000134363",
          "biotype": "protein_coding",
          "start": 53479819,
          "end": 53487134,
          "strand": "+",
          "slug": "fst"
        },
        {
          "symbol": "NDUFS4",
          "ensemblId": "ENSG00000164258",
          "biotype": "protein_coding",
          "start": 53560633,
          "end": 53683340,
          "strand": "+",
          "slug": "ndufs4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "molybdenum-cofactor-and-sulfite-oxidase-deficiency",
        "name": "Molybdenkofaktor- og isolert sulfittoksidasemangel",
        "diseases": [
          {
            "mondoId": "MONDO:0020480",
            "name": "Molybdenkofaktormangel",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "En tilstand som skyldes endringer i begge kopiene av MOCS1, MOCS2 eller GPHN, som er nødvendige for å lage molybdenkofaktoren som brukes av sulfittoksidase og andre enzymer.",
            "management": "Fosdenopterin er en godkjent behandling for type A (MOCS1) og virker best når den startes svært tidlig; bærerstatus er relevant for familieplanlegging.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/molybdenum-cofactor-and-sulfite-oxidase-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "axonal-loss",
        "name": "Axonal loss",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/axonal-loss"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "lens-luxation",
        "name": "Completely dislocated lens",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/lens-luxation"
      },
      {
        "slug": "decreased-urinary-urate",
        "name": "Decreased urinary urate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-urinary-urate"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "diffuse-cerebral-atrophy",
        "name": "Diffuse cerebral atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diffuse-cerebral-atrophy"
      },
      {
        "slug": "ectopia-lentis",
        "name": "Ectopia lentis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ectopia-lentis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "slug": "thick-vermilion-border",
        "name": "Full lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/thick-vermilion-border"
      },
      {
        "slug": "gliosis",
        "name": "Gliosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gliosis"
      },
      {
        "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": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "increased-urinary-hypoxanthine-level",
        "name": "Increased urinary hypoxanthine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-urinary-hypoxanthine-level"
      },
      {
        "slug": "increased-urinary-sulfite-level",
        "name": "Increased urinary sulfite level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-urinary-sulfite-level"
      },
      {
        "slug": "increased-urinary-taurine",
        "name": "Increased urinary taurine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-urinary-taurine"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "long-face",
        "name": "Long face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/long-face"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "hypouricemia",
        "name": "Low blood uric acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypouricemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "molybdenum-cofactor-deficiency",
        "name": "Molybdenum cofactor deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/molybdenum-cofactor-deficiency"
      },
      {
        "slug": "myoclonic-spasms",
        "name": "Myoclonic spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/myoclonic-spasms"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/opisthotonus"
      },
      {
        "slug": "peripheral-demyelination",
        "name": "Peripheral demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-demyelination"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "xanthine-nephrolithiasis",
        "name": "Xanthine nephrolithiasis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/xanthine-nephrolithiasis"
      },
      {
        "slug": "xanthinuria",
        "name": "Xanthinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/xanthinuria"
      }
    ],
    "related": [
      {
        "slug": "gphn",
        "symbol": "GPHN",
        "name": "gephyrin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gphn"
      },
      {
        "slug": "mocs1",
        "symbol": "MOCS1",
        "name": "molybdenum cofactor synthesis 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/mocs1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}