{
  "url": "https://dantelabs.com/ro/genes/naa20",
  "gene": {
    "slug": "naa20",
    "symbol": "NAA20",
    "name": "N-alpha-acetyltransferase 20, NatB catalytic subunit",
    "hgnc": "HGNC:15908",
    "summary": null,
    "location": "20p11.23",
    "locusType": "gene with protein product",
    "aliases": [
      "dJ1002M8.1",
      "NAT3"
    ],
    "previousSymbols": [
      "NAT5"
    ],
    "ensemblId": "ENSG00000173418",
    "entrezId": 51126,
    "omim": [
      "610833"
    ],
    "uniprot": [
      "P61599"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 20017362,
      "end": 20033655,
      "strand": "+",
      "ensemblTranscript": "ENST00000334982.9",
      "refseqTranscript": "NM_016100.5",
      "ensemblProtein": "ENSP00000335636.4",
      "refseqProtein": "NP_057184.1",
      "exons": [
        {
          "start": 20017362,
          "end": 20017449
        },
        {
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        },
        {
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        },
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        },
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          "start": 20032508,
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        },
        {
          "start": 20033102,
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        }
      ],
      "cds": {
        "start": 20017397,
        "end": 20033187
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 19997760,
      "end": 20014299,
      "strand": "+"
    },
    "neighbourhood": {
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      "end": 20525508,
      "genes": [
        {
          "symbol": "SLC24A3",
          "ensemblId": "ENSG00000185052",
          "biotype": "protein_coding",
          "start": 19212495,
          "end": 19724784,
          "strand": "+",
          "slug": "slc24a3"
        },
        {
          "symbol": "RIN2",
          "ensemblId": "ENSG00000132669",
          "biotype": "protein_coding",
          "start": 19757594,
          "end": 20003572,
          "strand": "+",
          "slug": "rin2"
        },
        {
          "symbol": "CRNKL1",
          "ensemblId": "ENSG00000101343",
          "biotype": "protein_coding",
          "start": 20027769,
          "end": 20056046,
          "strand": "-",
          "slug": "crnkl1"
        },
        {
          "symbol": "CFAP61",
          "ensemblId": "ENSG00000089101",
          "biotype": "protein_coding",
          "start": 20052511,
          "end": 20360703,
          "strand": "+",
          "slug": "cfap61"
        },
        {
          "symbol": "INSM1",
          "ensemblId": "ENSG00000173404",
          "biotype": "protein_coding",
          "start": 20368104,
          "end": 20370949,
          "strand": "+",
          "slug": "insm1"
        },
        {
          "symbol": "RALGAPA2",
          "ensemblId": "ENSG00000188559",
          "biotype": "protein_coding",
          "start": 20389530,
          "end": 20712673,
          "strand": "-",
          "slug": "ralgapa2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "intellectual-disability",
        "name": "Dizabilitate intelectuală",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "dizabilitate intelectuală",
            "genes": 233,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "impaired-mastication",
        "name": "Chewing difficulties",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-mastication"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "deep-philtrum",
        "name": "Deep philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/deep-philtrum"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "drooling",
        "name": "Drooling",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/drooling"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "thick-upper-lip-vermilion",
        "name": "Full upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thick-upper-lip-vermilion"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "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": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "impulsivity",
        "name": "Impulsivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impulsivity"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "narrow-forehead",
        "name": "Narrow forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/narrow-forehead"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "persistent-head-lag",
        "name": "Persistent head lag",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/persistent-head-lag"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "recurrent-hand-flapping",
        "name": "Recurrent hand flapping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-hand-flapping"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "single-transverse-palmar-crease",
        "name": "Single transverse palmar crease",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/single-transverse-palmar-crease"
      },
      {
        "slug": "small-forehead",
        "name": "Small forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-forehead"
      },
      {
        "slug": "widely-spaced-teeth",
        "name": "Widely spaced teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/widely-spaced-teeth"
      }
    ],
    "related": [
      {
        "slug": "acsl4",
        "symbol": "ACSL4",
        "name": "acyl-CoA synthetase long chain family member 4",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/acsl4"
      },
      {
        "slug": "adk",
        "symbol": "ADK",
        "name": "adenosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/adk"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "name": "activity dependent neuroprotector homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/adnp"
      },
      {
        "slug": "aff2",
        "symbol": "AFF2",
        "name": "ALF transcription elongation factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aff2"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "name": "AT-hook DNA binding motif containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ahdc1"
      },
      {
        "slug": "alkbh8",
        "symbol": "ALKBH8",
        "name": "alkB homolog 8, tRNA methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/alkbh8"
      },
      {
        "slug": "ank3",
        "symbol": "ANK3",
        "name": "ankyrin 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ank3"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "name": "ankyrin repeat domain 11",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ankrd11"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ap1s2"
      },
      {
        "slug": "ap2m1",
        "symbol": "AP2M1",
        "name": "adaptor related protein complex 2 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ap2m1"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arhgef9"
      },
      {
        "slug": "arid1a",
        "symbol": "ARID1A",
        "name": "AT-rich interaction domain 1A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arid1a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}