{
  "url": "https://dantelabs.com/nl/genes/ahcy",
  "gene": {
    "slug": "ahcy",
    "symbol": "AHCY",
    "name": "adenosylhomocysteinase",
    "hgnc": "HGNC:343",
    "summary": null,
    "location": "20q11.22",
    "locusType": "gene with protein product",
    "aliases": [
      "SAHH",
      "AdoHcyase"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000101444",
    "entrezId": 191,
    "omim": [
      "180960"
    ],
    "uniprot": [
      "P23526"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 34280268,
      "end": 34303355,
      "strand": "-",
      "ensemblTranscript": "ENST00000217426.7",
      "refseqTranscript": "NM_000687.4",
      "ensemblProtein": "ENSP00000217426.2",
      "refseqProtein": "NP_000678.1",
      "exons": [
        {
          "start": 34280268,
          "end": 34281165
        },
        {
          "start": 34285440,
          "end": 34285634
        },
        {
          "start": 34290332,
          "end": 34290449
        },
        {
          "start": 34290551,
          "end": 34290638
        },
        {
          "start": 34290731,
          "end": 34290938
        },
        {
          "start": 34291419,
          "end": 34291531
        },
        {
          "start": 34292358,
          "end": 34292507
        },
        {
          "start": 34294081,
          "end": 34294156
        },
        {
          "start": 34295395,
          "end": 34295585
        },
        {
          "start": 34303243,
          "end": 34303355
        }
      ],
      "cds": {
        "start": 34281034,
        "end": 34303270
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 32868074,
      "end": 32899608,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 33791812,
      "end": 34791811,
      "genes": [
        {
          "symbol": "ZNF341",
          "ensemblId": "ENSG00000131061",
          "biotype": "protein_coding",
          "start": 33731657,
          "end": 33792269,
          "strand": "+",
          "slug": "znf341"
        },
        {
          "symbol": "CHMP4B",
          "ensemblId": "ENSG00000101421",
          "biotype": "protein_coding",
          "start": 33811253,
          "end": 33854366,
          "strand": "+",
          "slug": "chmp4b"
        },
        {
          "symbol": "RALY",
          "ensemblId": "ENSG00000125970",
          "biotype": "protein_coding",
          "start": 33993632,
          "end": 34108308,
          "strand": "+",
          "slug": "raly"
        },
        {
          "symbol": "EIF2S2",
          "ensemblId": "ENSG00000125977",
          "biotype": "protein_coding",
          "start": 34088309,
          "end": 34112284,
          "strand": "-",
          "slug": "eif2s2"
        },
        {
          "symbol": "ASIP",
          "ensemblId": "ENSG00000101440",
          "biotype": "protein_coding",
          "start": 34194569,
          "end": 34269346,
          "strand": "+",
          "slug": "asip"
        },
        {
          "symbol": "ITCH",
          "ensemblId": "ENSG00000078747",
          "biotype": "protein_coding",
          "start": 34363235,
          "end": 34511773,
          "strand": "+",
          "slug": "itch"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289720",
          "biotype": "protein_coding",
          "start": 34363271,
          "end": 34540923,
          "strand": "+"
        },
        {
          "symbol": "DYNLRB1",
          "ensemblId": "ENSG00000125971",
          "biotype": "protein_coding",
          "start": 34515600,
          "end": 34540958,
          "strand": "+",
          "slug": "dynlrb1"
        },
        {
          "symbol": "MAP1LC3A",
          "ensemblId": "ENSG00000101460",
          "biotype": "protein_coding",
          "start": 34546838,
          "end": 34560357,
          "strand": "+",
          "slug": "map1lc3a"
        },
        {
          "symbol": "PIGU",
          "ensemblId": "ENSG00000101464",
          "biotype": "protein_coding",
          "start": 34560542,
          "end": 34698790,
          "strand": "-",
          "slug": "pigu"
        },
        {
          "symbol": "NCOA6",
          "ensemblId": "ENSG00000198646",
          "biotype": "protein_coding",
          "start": 34689097,
          "end": 34825739,
          "strand": "-",
          "slug": "ncoa6"
        },
        {
          "symbol": "TP53INP2",
          "ensemblId": "ENSG00000078804",
          "biotype": "protein_coding",
          "start": 34701662,
          "end": 34713442,
          "strand": "+",
          "slug": "tp53inp2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "homocystinuria-and-cobalamin-disorders",
        "name": "Homocystinurie en stoornissen van cobalamine (vitamine B12)",
        "diseases": [
          {
            "mondoId": "MONDO:0013404",
            "name": "S-adenosylhomocysteine-hydrolase-deficiëntie",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Veroorzaakt door varianten in AHCY, die spierzwakte, ontwikkelingsachterstand en leverproblemen kunnen veroorzaken.",
            "management": "Als u dit weet, kan er een methioninebeperkt dieet en suppletie worden gegeven, wat sommige kenmerken kan verbeteren.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/homocystinuria-and-cobalamin-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-homocysteine-concentration",
        "name": "Abnormal circulating homocysteine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-homocysteine-concentration"
      },
      {
        "slug": "abnormal-circulating-methionine-concentration",
        "name": "Abnormal circulating methionine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-methionine-concentration"
      },
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormality-of-coagulation",
        "name": "Abnormality of coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-coagulation"
      },
      {
        "slug": "abnormality-of-hair-texture",
        "name": "Abnormality of hair texture",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-hair-texture"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "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": "decreased-hepatic-echogenicity",
        "name": "Decreased hepatic echogenicity",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-hepatic-echogenicity"
      },
      {
        "slug": "floppy-infant",
        "name": "Decreased muscle tone in infant",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/floppy-infant"
      },
      {
        "slug": "decreased-tissue-s-adenosylhomocysteine-hydrolase-activity",
        "name": "Decreased tissue S-adenosylhomocysteine hydrolase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-tissue-s-adenosylhomocysteine-hydrolase-activity"
      },
      {
        "slug": "delayed-myelination",
        "name": "Delayed myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-myelination"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "hyperhomocystinemia",
        "name": "Elevated blood homocystine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperhomocystinemia"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-mm-isoform-concentration",
        "name": "Elevated circulating creatine kinase MM isoform concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-mm-isoform-concentration"
      },
      {
        "slug": "elevated-coagulation-factor-v-activity",
        "name": "Elevated coagulation factor V activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-coagulation-factor-v-activity"
      },
      {
        "slug": "esodeviation",
        "name": "Esodeviation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/esodeviation"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hepatocellular-carcinoma",
        "name": "Hepatocellular carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatocellular-carcinoma"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hydrops-fetalis",
        "name": "Hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydrops-fetalis"
      },
      {
        "slug": "hyperintensity-of-cerebral-white-matter-on-mri",
        "name": "Hyperintensity of cerebral white matter on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri"
      },
      {
        "slug": "hypofibrinogenemia",
        "name": "Hypofibrinogenemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypofibrinogenemia"
      },
      {
        "slug": "hypoplasia-of-the-pons",
        "name": "Hypoplasia of the pons",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-pons"
      },
      {
        "slug": "hypermethioninemia",
        "name": "Increased methionine in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypermethioninemia"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "muscular-dystrophy",
        "name": "Muscular dystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscular-dystrophy"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "reduced-antithrombin-iii-activity",
        "name": "Reduced antithrombin III activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-antithrombin-iii-activity"
      },
      {
        "slug": "reduced-factor-vii-activity",
        "name": "Reduced factor VII activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-factor-vii-activity"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "short-attention-span",
        "name": "Short attention span",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-attention-span"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "widened-subarachnoid-space",
        "name": "Widened subarachnoid space",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/widened-subarachnoid-space"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}