{
  "url": "https://dantelabs.com/el/genes/klhl40",
  "gene": {
    "slug": "klhl40",
    "symbol": "KLHL40",
    "name": "kelch like family member 40",
    "hgnc": "HGNC:30372",
    "summary": null,
    "location": "3p22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "SRYP",
      "NEM8"
    ],
    "previousSymbols": [
      "KBTBD5"
    ],
    "ensemblId": "ENSG00000157119",
    "entrezId": 131377,
    "omim": [
      "615340"
    ],
    "uniprot": [
      "Q2TBA0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 42685537,
      "end": 42692544,
      "strand": "+",
      "ensemblTranscript": "ENST00000287777.5",
      "refseqTranscript": "NM_152393.4",
      "ensemblProtein": "ENSP00000287777.4",
      "refseqProtein": "NP_689606.2",
      "exons": [
        {
          "start": 42685537,
          "end": 42686770
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          "end": 42688302
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        {
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        {
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        }
      ],
      "cds": {
        "start": 42685619,
        "end": 42691993
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 42727011,
      "end": 42734036,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 42189041,
      "end": 43189040,
      "genes": [
        {
          "symbol": "TRAK1",
          "ensemblId": "ENSG00000182606",
          "biotype": "protein_coding",
          "start": 42013624,
          "end": 42225890,
          "strand": "+",
          "slug": "trak1"
        },
        {
          "symbol": "CCK",
          "ensemblId": "ENSG00000187094",
          "biotype": "protein_coding",
          "start": 42257823,
          "end": 42266190,
          "strand": "-",
          "slug": "cck"
        },
        {
          "symbol": "LYZL4",
          "ensemblId": "ENSG00000157093",
          "biotype": "protein_coding",
          "start": 42397083,
          "end": 42410610,
          "strand": "-",
          "slug": "lyzl4"
        },
        {
          "symbol": "VIPR1",
          "ensemblId": "ENSG00000114812",
          "biotype": "protein_coding",
          "start": 42489299,
          "end": 42537696,
          "strand": "+",
          "slug": "vipr1"
        },
        {
          "symbol": "SEC22C",
          "ensemblId": "ENSG00000093183",
          "biotype": "protein_coding",
          "start": 42546350,
          "end": 42601300,
          "strand": "-",
          "slug": "sec22c"
        },
        {
          "symbol": "SS18L2",
          "ensemblId": "ENSG00000008324",
          "biotype": "protein_coding",
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          "end": 42596985,
          "strand": "+",
          "slug": "ss18l2"
        },
        {
          "symbol": "NKTR",
          "ensemblId": "ENSG00000114857",
          "biotype": "protein_coding",
          "start": 42600471,
          "end": 42648742,
          "strand": "+",
          "slug": "nktr"
        },
        {
          "symbol": "ZBTB47",
          "ensemblId": "ENSG00000114853",
          "biotype": "protein_coding",
          "start": 42652900,
          "end": 42667580,
          "strand": "+",
          "slug": "zbtb47"
        },
        {
          "symbol": "HHATL",
          "ensemblId": "ENSG00000010282",
          "biotype": "protein_coding",
          "start": 42692661,
          "end": 42703260,
          "strand": "-",
          "slug": "hhatl"
        },
        {
          "symbol": "CCDC13",
          "ensemblId": "ENSG00000244607",
          "biotype": "protein_coding",
          "start": 42704119,
          "end": 42773290,
          "strand": "-",
          "slug": "ccdc13"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000280571",
          "biotype": "protein_coding",
          "start": 42705756,
          "end": 42804518,
          "strand": "-"
        },
        {
          "symbol": "HIGD1A",
          "ensemblId": "ENSG00000181061",
          "biotype": "protein_coding",
          "start": 42782904,
          "end": 42804531,
          "strand": "-",
          "slug": "higd1a"
        },
        {
          "symbol": "ACKR2",
          "ensemblId": "ENSG00000144648",
          "biotype": "protein_coding",
          "start": 42804586,
          "end": 42888801,
          "strand": "+",
          "slug": "ackr2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000273291",
          "biotype": "protein_coding",
          "start": 42809446,
          "end": 43055871,
          "strand": "+"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000290317",
          "biotype": "protein_coding",
          "start": 42809483,
          "end": 42942792,
          "strand": "+"
        },
        {
          "symbol": "CYP8B1",
          "ensemblId": "ENSG00000180432",
          "biotype": "protein_coding",
          "start": 42855944,
          "end": 42875920,
          "strand": "-",
          "slug": "cyp8b1"
        },
        {
          "symbol": "ZNF662",
          "ensemblId": "ENSG00000182983",
          "biotype": "protein_coding",
          "start": 42905941,
          "end": 42919334,
          "strand": "+",
          "slug": "znf662"
        },
        {
          "symbol": "KRABD1",
          "ensemblId": "ENSG00000240747",
          "biotype": "protein_coding",
          "start": 42936336,
          "end": 42942799,
          "strand": "+",
          "slug": "krabd1"
        },
        {
          "symbol": "GASK1A",
          "ensemblId": "ENSG00000144649",
          "biotype": "protein_coding",
          "start": 42979087,
          "end": 43067898,
          "strand": "+",
          "slug": "gask1a"
        },
        {
          "symbol": "POMGNT2",
          "ensemblId": "ENSG00000144647",
          "biotype": "protein_coding",
          "start": 43079229,
          "end": 43106098,
          "strand": "-",
          "slug": "pomgnt2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-myopathies",
        "name": "Συγγενείς μυοπάθειες",
        "diseases": [
          {
            "mondoId": "MONDO:0018958",
            "name": "Νηματοειδής μυοπάθεια",
            "genes": 12,
            "inheritance": null,
            "description": "Συγγενής μυοπάθεια που χαρακτηρίζεται από ράβδους σχήματος ράβδου μέσα στις μυϊκές ίνες, που οφείλεται συχνότερα σε παραλλαγές του NEB ή του ACTA1.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/congenital-myopathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-thorax-morphology",
        "name": "Abnormality of the chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-thorax-morphology"
      },
      {
        "slug": "abnormality-of-the-diaphragm",
        "name": "Abnormality of the diaphragm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-diaphragm"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "axial-muscle-weakness",
        "name": "Axial muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-muscle-weakness"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "hypokinesia",
        "name": "Decreased muscle movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypokinesia"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "edema-of-the-dorsum-of-hands",
        "name": "Edema of the dorsum of hands",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/edema-of-the-dorsum-of-hands"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "facial-diplegia",
        "name": "Facial diplegia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-diplegia"
      },
      {
        "slug": "falls",
        "name": "Falls",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/falls"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "breech-presentation",
        "name": "Feet or buttocks of fetus positioned near opening of uterus",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/breech-presentation"
      },
      {
        "slug": "fetal-akinesia-sequence",
        "name": "Fetal akinesia sequence",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/fetal-akinesia-sequence"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "gastrostomy-tube-feeding-in-infancy",
        "name": "Gastrostomy tube feeding in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gastrostomy-tube-feeding-in-infancy"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "increased-connective-tissue",
        "name": "Increased connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-connective-tissue"
      },
      {
        "slug": "adducted-thumb",
        "name": "Inward turned thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/adducted-thumb"
      },
      {
        "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": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-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": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "multiple-prenatal-fractures",
        "name": "Multiple fractures present at birth",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multiple-prenatal-fractures"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "myofibrillar-myopathy",
        "name": "Myofibrillar myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myofibrillar-myopathy"
      },
      {
        "slug": "nemaline-bodies",
        "name": "Nemaline bodies",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nemaline-bodies"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-muscular-hypotonia",
        "name": "Severely decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-muscular-hypotonia"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "thin-ribs",
        "name": "Thin ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-ribs"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "type-1-muscle-fiber-predominance",
        "name": "Type 1 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance"
      },
      {
        "slug": "ophthalmoparesis",
        "name": "Weakness of muscles controlling eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ophthalmoparesis"
      },
      {
        "slug": "large-fontanelles",
        "name": "Wide fontanelles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/large-fontanelles"
      }
    ],
    "related": [
      {
        "slug": "acta1",
        "symbol": "ACTA1",
        "name": "actin alpha 1, skeletal muscle",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/acta1"
      },
      {
        "slug": "cfl2",
        "symbol": "CFL2",
        "name": "cofilin 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cfl2"
      },
      {
        "slug": "kbtbd13",
        "symbol": "KBTBD13",
        "name": "kelch repeat and BTB domain containing 13",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/kbtbd13"
      },
      {
        "slug": "klhl41",
        "symbol": "KLHL41",
        "name": "kelch like family member 41",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/klhl41"
      },
      {
        "slug": "lmod3",
        "symbol": "LMOD3",
        "name": "leiomodin 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/lmod3"
      },
      {
        "slug": "mypn",
        "symbol": "MYPN",
        "name": "myopalladin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mypn"
      },
      {
        "slug": "neb",
        "symbol": "NEB",
        "name": "nebulin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/neb"
      },
      {
        "slug": "selenon",
        "symbol": "SELENON",
        "name": "selenoprotein N",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/selenon"
      },
      {
        "slug": "tnnt1",
        "symbol": "TNNT1",
        "name": "troponin T1, slow skeletal type",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/tnnt1"
      },
      {
        "slug": "tpm2",
        "symbol": "TPM2",
        "name": "tropomyosin 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/tpm2"
      },
      {
        "slug": "tpm3",
        "symbol": "TPM3",
        "name": "tropomyosin 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/tpm3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}