{
  "url": "https://dantelabs.com/et/genes/myl9",
  "gene": {
    "slug": "myl9",
    "symbol": "MYL9",
    "name": "myosin light chain 9",
    "hgnc": "HGNC:15754",
    "summary": null,
    "location": "20q11.23",
    "locusType": "gene with protein product",
    "aliases": [
      "MYRL2",
      "MLC2",
      "LC20",
      "MRLC1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000101335",
    "entrezId": 10398,
    "omim": [
      "609905"
    ],
    "uniprot": [
      "P24844"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 36541519,
      "end": 36551447,
      "strand": "+",
      "ensemblTranscript": "ENST00000279022.7",
      "refseqTranscript": "NM_006097.5",
      "ensemblProtein": "ENSP00000279022.2",
      "refseqProtein": "NP_006088.2",
      "exons": [
        {
          "start": 36541519,
          "end": 36541561
        },
        {
          "start": 36544859,
          "end": 36545068
        },
        {
          "start": 36548032,
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        {
          "start": 36549077,
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        }
      ],
      "cds": {
        "start": 36544885,
        "end": 36549249
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 35169887,
      "end": 35178228,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 36046483,
      "end": 37046482,
      "genes": [
        {
          "symbol": "EPB41L1",
          "ensemblId": "ENSG00000088367",
          "biotype": "protein_coding",
          "start": 36091504,
          "end": 36232799,
          "strand": "+",
          "slug": "epb41l1"
        },
        {
          "symbol": "AAR2",
          "ensemblId": "ENSG00000131043",
          "biotype": "protein_coding",
          "start": 36236131,
          "end": 36270918,
          "strand": "+",
          "slug": "aar2"
        },
        {
          "symbol": "DLGAP4",
          "ensemblId": "ENSG00000080845",
          "biotype": "protein_coding",
          "start": 36306302,
          "end": 36528637,
          "strand": "+",
          "slug": "dlgap4"
        },
        {
          "symbol": "TGIF2",
          "ensemblId": "ENSG00000118707",
          "biotype": "protein_coding",
          "start": 36571894,
          "end": 36593950,
          "strand": "+",
          "slug": "tgif2"
        },
        {
          "symbol": "TGIF2-RAB5IF",
          "ensemblId": "ENSG00000259399",
          "biotype": "protein_coding",
          "start": 36574553,
          "end": 36612384,
          "strand": "+",
          "slug": "tgif2-rab5if"
        },
        {
          "symbol": "RAB5IF",
          "ensemblId": "ENSG00000101084",
          "biotype": "protein_coding",
          "start": 36605718,
          "end": 36612557,
          "strand": "+",
          "slug": "rab5if"
        },
        {
          "symbol": "SLA2",
          "ensemblId": "ENSG00000101082",
          "biotype": "protein_coding",
          "start": 36612318,
          "end": 36646219,
          "strand": "-",
          "slug": "sla2"
        },
        {
          "symbol": "NDRG3",
          "ensemblId": "ENSG00000101079",
          "biotype": "protein_coding",
          "start": 36651766,
          "end": 36746157,
          "strand": "-",
          "slug": "ndrg3"
        },
        {
          "symbol": "DSN1",
          "ensemblId": "ENSG00000149636",
          "biotype": "protein_coding",
          "start": 36751791,
          "end": 36774298,
          "strand": "-",
          "slug": "dsn1"
        },
        {
          "symbol": "MTCL2",
          "ensemblId": "ENSG00000149639",
          "biotype": "protein_coding",
          "start": 36777447,
          "end": 36863795,
          "strand": "-",
          "slug": "mtcl2"
        },
        {
          "symbol": "TLDC2",
          "ensemblId": "ENSG00000101342",
          "biotype": "protein_coding",
          "start": 36873061,
          "end": 36898931,
          "strand": "+",
          "slug": "tldc2"
        },
        {
          "symbol": "SAMHD1",
          "ensemblId": "ENSG00000101347",
          "biotype": "protein_coding",
          "start": 36890216,
          "end": 36951893,
          "strand": "-",
          "slug": "samhd1"
        },
        {
          "symbol": "RBL1",
          "ensemblId": "ENSG00000080839",
          "biotype": "protein_coding",
          "start": 36996088,
          "end": 37096034,
          "strand": "-",
          "slug": "rbl1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-visceral-myopathy-and-intestinal-pseudo-obstruction",
        "name": "Erbliche viszerale Myopathie, CIPO und MMIHS",
        "diseases": [
          {
            "mondoId": "MONDO:0025986",
            "name": "Megacystis-Mikrokolon-intestinales Hypoperistaltik-Syndrom (MMIHS)",
            "genes": 3,
            "inheritance": null,
            "description": "Eine schwere Erkrankung bei Neugeborenen mit stark vergrößerter Harnblase, kleinem Dickdarm und eingeschränkter Darmbewegung. Sie wird durch Varianten in Genen der glatten Muskulatur verursacht, etwa ACTG2, MYH11, MYLK, MYL9 und LMOD1.",
            "management": "Eine frühe Diagnose unterstützt die Planung von Ernährungsunterstützung, Blasendrainage und in einigen Fällen einer Transplantation.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/hereditary-visceral-myopathy-and-intestinal-pseudo-obstruction"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "cerebral-white-matter-atrophy",
        "name": "Cerebral white matter atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-white-matter-atrophy"
      },
      {
        "slug": "mydriasis",
        "name": "Dilated pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mydriasis"
      },
      {
        "slug": "fetal-pyelectasis",
        "name": "Fetal pyelectasis",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fetal-pyelectasis"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "hypoperistalsis",
        "name": "Hypoperistalsis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoperistalsis"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "megacystis",
        "name": "Megacystis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/megacystis"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      }
    ],
    "related": [
      {
        "slug": "myh11",
        "symbol": "MYH11",
        "name": "myosin heavy chain 11",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/myh11"
      },
      {
        "slug": "mylk",
        "symbol": "MYLK",
        "name": "myosin light chain kinase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/mylk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}