{
  "url": "https://dantelabs.com/no/genes/smpx",
  "gene": {
    "slug": "smpx",
    "symbol": "SMPX",
    "name": "small muscle protein X-linked",
    "hgnc": "HGNC:11122",
    "summary": null,
    "location": "Xp22.12",
    "locusType": "gene with protein product",
    "aliases": [
      "DFNX4",
      "Chisel",
      "Csl"
    ],
    "previousSymbols": [
      "DFN6"
    ],
    "ensemblId": "ENSG00000091482",
    "entrezId": 23676,
    "omim": [
      "300226"
    ],
    "uniprot": [
      "Q9UHP9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 21705978,
      "end": 21758116,
      "strand": "-",
      "ensemblTranscript": "ENST00000379494.4",
      "refseqTranscript": "NM_014332.3",
      "ensemblProtein": "ENSP00000368808.3",
      "refseqProtein": "NP_055147.1",
      "exons": [
        {
          "start": 21705978,
          "end": 21706394
        },
        {
          "start": 21737549,
          "end": 21737697
        },
        {
          "start": 21743750,
          "end": 21743836
        },
        {
          "start": 21754246,
          "end": 21754302
        },
        {
          "start": 21757942,
          "end": 21758116
        }
      ],
      "cds": {
        "start": 21737563,
        "end": 21754290
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 21724090,
      "end": 21776281,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 21232047,
      "end": 22232046,
      "genes": [
        {
          "symbol": "CNKSR2",
          "ensemblId": "ENSG00000149970",
          "biotype": "protein_coding",
          "start": 21372801,
          "end": 21654701,
          "strand": "+",
          "slug": "cnksr2"
        },
        {
          "symbol": "KLHL34",
          "ensemblId": "ENSG00000185915",
          "biotype": "protein_coding",
          "start": 21654690,
          "end": 21658330,
          "strand": "-",
          "slug": "klhl34"
        },
        {
          "symbol": "MBTPS2",
          "ensemblId": "ENSG00000012174",
          "biotype": "protein_coding",
          "start": 21839600,
          "end": 21935555,
          "strand": "+",
          "slug": "mbtps2"
        },
        {
          "symbol": "YY2",
          "ensemblId": "ENSG00000230797",
          "biotype": "protein_coding",
          "start": 21855987,
          "end": 21858740,
          "strand": "+",
          "slug": "yy2"
        },
        {
          "symbol": "SMS",
          "ensemblId": "ENSG00000102172",
          "biotype": "protein_coding",
          "start": 21940557,
          "end": 21994837,
          "strand": "+",
          "slug": "sms"
        },
        {
          "symbol": "PHEX",
          "ensemblId": "ENSG00000102174",
          "biotype": "protein_coding",
          "start": 22032293,
          "end": 22494713,
          "strand": "+",
          "slug": "phex"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "distal-myopathies",
        "name": "Distale myopatier",
        "diseases": [
          {
            "mondoId": "MONDO:0018949",
            "name": "Distal myopati",
            "genes": 16,
            "inheritance": null,
            "description": "En gruppe arvelige muskelsykdommer der svakheten starter i hendene, underarmene, leggene eller føttene, forårsaket av gener som TTN, DYSF, FLNC, MYH7, ADSS1, SMPX og MATR3.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/distal-myopathies"
      },
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Hørselstap og døvhet",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Ikke-syndromisk genetisk hørselstap",
            "genes": 97,
            "inheritance": null,
            "description": "Arvelig hørselstap uten andre medisinske trekk, inkludert de vanlige recessive formene forårsaket av GJB2, OTOF, SLC26A4, STRC og mange andre gener, samt dominante, X-bundne og mitokondrielle former.",
            "management": "Kunnskap om den genetiske årsaken kan veilede valg av hørselshjelpemidler og cochleaimplantat, vurdering av om du kan delta i genterapistudier (for eksempel OTOF), og familieveiledning.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "distal-upper-limb-muscle-weakness",
        "name": "Distal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness"
      },
      {
        "slug": "fatty-replacement-of-skeletal-muscle",
        "name": "Fatty replacement of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle"
      },
      {
        "slug": "high-frequency-hearing-impairment",
        "name": "Hearing loss, high-frequency",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/high-frequency-hearing-impairment"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "muscle-fiber-cytoplasmatic-inclusion-bodies",
        "name": "Muscle fiber cytoplasmatic inclusion bodies",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-fiber-cytoplasmatic-inclusion-bodies"
      },
      {
        "slug": "myofiber-disarray",
        "name": "Myofiber disarray",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myofiber-disarray"
      },
      {
        "slug": "proximal-lower-limb-muscle-weakness",
        "name": "Proximal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-lower-limb-muscle-weakness"
      },
      {
        "slug": "proximal-upper-limb-muscle-weakness",
        "name": "Proximal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-upper-limb-muscle-weakness"
      },
      {
        "slug": "rimmed-vacuoles",
        "name": "Rimmed vacuoles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rimmed-vacuoles"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/actg1"
      },
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "name": "adenylosuccinate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/adss1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aifm1"
      },
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ano5"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cabp2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cd164"
      },
      {
        "slug": "cdc14a",
        "symbol": "CDC14A",
        "name": "cell division cycle 14A",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cdc14a"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cdh23"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ceacam16"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}