{
  "url": "https://dantelabs.com/genes/abhd5",
  "gene": {
    "slug": "abhd5",
    "symbol": "ABHD5",
    "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",
    "hgnc": "HGNC:21396",
    "summary": null,
    "location": "3p21.33",
    "locusType": "gene with protein product",
    "aliases": [
      "CGI-58",
      "NCIE2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000011198",
    "entrezId": 51099,
    "omim": [
      "604780"
    ],
    "uniprot": [
      "Q8WTS1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 43690938,
      "end": 43722725,
      "strand": "+",
      "ensemblTranscript": "ENST00000644371.2",
      "refseqTranscript": "NM_016006.6",
      "ensemblProtein": "ENSP00000495778.1",
      "refseqProtein": "NP_057090.2",
      "exons": [
        {
          "start": 43690938,
          "end": 43691039
        },
        {
          "start": 43699276,
          "end": 43699361
        },
        {
          "start": 43702215,
          "end": 43702587
        },
        {
          "start": 43711709,
          "end": 43711863
        },
        {
          "start": 43714947,
          "end": 43715058
        },
        {
          "start": 43717671,
          "end": 43717857
        },
        {
          "start": 43718443,
          "end": 43722725
        }
      ],
      "cds": {
        "start": 43690993,
        "end": 43718532
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 43731605,
      "end": 43775863,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 43206832,
      "end": 44206831,
      "genes": [
        {
          "symbol": "SNRK",
          "ensemblId": "ENSG00000163788",
          "biotype": "protein_coding",
          "start": 43286510,
          "end": 43424764,
          "strand": "+",
          "slug": "snrk"
        },
        {
          "symbol": "ANO10",
          "ensemblId": "ENSG00000160746",
          "biotype": "protein_coding",
          "start": 43354859,
          "end": 43691594,
          "strand": "-",
          "slug": "ano10"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "lysosomal-storage-disease",
        "name": "Lysosomal Storage Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Lysosomal storage disease (other and unspecified types)",
            "genes": 59,
            "inheritance": null,
            "description": "Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-granulocyte-morphology",
        "name": "Abnormal granulocyte morphology",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-granulocyte-morphology"
      },
      {
        "slug": "abnormal-circulating-creatine-kinase-activity",
        "name": "Abnormal levels of creatine kinase in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-creatine-kinase-activity"
      },
      {
        "slug": "abnormality-of-blood-and-blood-forming-tissues",
        "name": "Abnormality of blood and blood-forming tissues",
        "systems": [],
        "url": "https://dantelabs.com/traits/abnormality-of-blood-and-blood-forming-tissues"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "central-nervous-system-degeneration",
        "name": "Central nervous system degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/central-nervous-system-degeneration"
      },
      {
        "slug": "congenital-nonbullous-ichthyosiform-erythroderma",
        "name": "Congenital nonbullous ichthyosiform erythroderma",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congenital-nonbullous-ichthyosiform-erythroderma"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "everted-lower-lip-vermilion",
        "name": "Drooping lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/everted-lower-lip-vermilion"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "emg-myopathic-abnormalities",
        "name": "EMG: myopathic abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "ectropion",
        "name": "Everted eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ectropion"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "ketosis",
        "name": "High levels of ketone bodies",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/ketosis"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "increased-csf-protein-concentration",
        "name": "Increased CSF protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-csf-protein-concentration"
      },
      {
        "slug": "increased-intramyocellular-lipid-droplets",
        "name": "Increased intramyocellular lipid droplets",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-intramyocellular-lipid-droplets"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "micronodular-cirrhosis",
        "name": "Micronodular cirrhosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micronodular-cirrhosis"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "eclabion",
        "name": "Outward turned lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eclabion"
      },
      {
        "slug": "progressive-proximal-muscle-weakness",
        "name": "Progressive proximal muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-proximal-muscle-weakness"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "small-earlobe",
        "name": "Small earlobe",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-earlobe"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "subcapsular-cataract",
        "name": "Subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subcapsular-cataract"
      },
      {
        "slug": "shoulder-girdle-muscle-weakness",
        "name": "Weak shoulder muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "aga",
        "symbol": "AGA",
        "name": "aspartylglucosaminidase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/aga"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/ap5z1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/genes/arsa"
      },
      {
        "slug": "arsb",
        "symbol": "ARSB",
        "name": "arylsulfatase B",
        "shared": 1,
        "url": "https://dantelabs.com/genes/arsb"
      },
      {
        "slug": "arsk",
        "symbol": "ARSK",
        "name": "arylsulfatase family member K",
        "shared": 1,
        "url": "https://dantelabs.com/genes/arsk"
      },
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "name": "N-acylsphingosine amidohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/asah1"
      },
      {
        "slug": "clcn6",
        "symbol": "CLCN6",
        "name": "Cl-/H+ antiporter 6",
        "shared": 1,
        "url": "https://dantelabs.com/genes/clcn6"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "shared": 1,
        "url": "https://dantelabs.com/genes/cln3"
      },
      {
        "slug": "cln5",
        "symbol": "CLN5",
        "name": "CLN5 lysosomal BMP synthase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/cln5"
      },
      {
        "slug": "cln6",
        "symbol": "CLN6",
        "name": "CLN6 transmembrane ER protein",
        "shared": 1,
        "url": "https://dantelabs.com/genes/cln6"
      },
      {
        "slug": "cln8",
        "symbol": "CLN8",
        "name": "CLN8 transmembrane ER and ERGIC protein",
        "shared": 1,
        "url": "https://dantelabs.com/genes/cln8"
      },
      {
        "slug": "ctns",
        "symbol": "CTNS",
        "name": "cystinosin, lysosomal cystine transporter",
        "shared": 1,
        "url": "https://dantelabs.com/genes/ctns"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}