{
  "url": "https://dantelabs.com/it/genes/kbtbd13",
  "gene": {
    "slug": "kbtbd13",
    "symbol": "KBTBD13",
    "name": "kelch repeat and BTB domain containing 13",
    "hgnc": "HGNC:37227",
    "summary": null,
    "location": "15q22.31",
    "locusType": "gene with protein product",
    "aliases": [
      "hCG_1645727",
      "NEM6"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000234438",
    "entrezId": 390594,
    "omim": [
      "613727"
    ],
    "uniprot": [
      "C9JR72"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 65076746,
      "end": 65079948,
      "strand": "+",
      "ensemblTranscript": "ENST00000432196.5",
      "refseqTranscript": "NM_001101362.3",
      "ensemblProtein": "ENSP00000388723.2",
      "refseqProtein": "NP_001094832.1",
      "exons": [
        {
          "start": 65076746,
          "end": 65079948
        }
      ],
      "cds": {
        "start": 65076816,
        "end": 65078192
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 65369154,
      "end": 65372276,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 64578347,
      "end": 65578346,
      "genes": [
        {
          "symbol": "ZNF609",
          "ensemblId": "ENSG00000180357",
          "biotype": "protein_coding",
          "start": 64460549,
          "end": 64686068,
          "strand": "+",
          "slug": "znf609"
        },
        {
          "symbol": "OAZ2",
          "ensemblId": "ENSG00000180304",
          "biotype": "protein_coding",
          "start": 64686833,
          "end": 64703281,
          "strand": "-",
          "slug": "oaz2"
        },
        {
          "symbol": "RBPMS2",
          "ensemblId": "ENSG00000166831",
          "biotype": "protein_coding",
          "start": 64739886,
          "end": 64775860,
          "strand": "-",
          "slug": "rbpms2"
        },
        {
          "symbol": "PIF1",
          "ensemblId": "ENSG00000140451",
          "biotype": "protein_coding",
          "start": 64815629,
          "end": 64825677,
          "strand": "-",
          "slug": "pif1"
        },
        {
          "symbol": "PLEKHO2",
          "ensemblId": "ENSG00000241839",
          "biotype": "protein_coding",
          "start": 64839231,
          "end": 64868002,
          "strand": "+",
          "slug": "plekho2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000249240",
          "biotype": "protein_coding",
          "start": 64841883,
          "end": 64930920,
          "strand": "+"
        },
        {
          "symbol": "ANKDD1A",
          "ensemblId": "ENSG00000166839",
          "biotype": "protein_coding",
          "start": 64911853,
          "end": 64979845,
          "strand": "+",
          "slug": "ankdd1a"
        },
        {
          "symbol": "SPG21",
          "ensemblId": "ENSG00000090487",
          "biotype": "protein_coding",
          "start": 64954566,
          "end": 64990312,
          "strand": "-",
          "slug": "spg21"
        },
        {
          "symbol": "MTFMT",
          "ensemblId": "ENSG00000103707",
          "biotype": "protein_coding",
          "start": 64990829,
          "end": 65029652,
          "strand": "-",
          "slug": "mtfmt"
        },
        {
          "symbol": "SLC51B",
          "ensemblId": "ENSG00000186198",
          "biotype": "protein_coding",
          "start": 65045132,
          "end": 65053397,
          "strand": "+",
          "slug": "slc51b"
        },
        {
          "symbol": "RASL12",
          "ensemblId": "ENSG00000103710",
          "biotype": "protein_coding",
          "start": 65053337,
          "end": 65076690,
          "strand": "-",
          "slug": "rasl12"
        },
        {
          "symbol": "UBAP1L",
          "ensemblId": "ENSG00000246922",
          "biotype": "protein_coding",
          "start": 65091766,
          "end": 65115200,
          "strand": "-",
          "slug": "ubap1l"
        },
        {
          "symbol": "PDCD7",
          "ensemblId": "ENSG00000090470",
          "biotype": "protein_coding",
          "start": 65117379,
          "end": 65133836,
          "strand": "-",
          "slug": "pdcd7"
        },
        {
          "symbol": "CLPX",
          "ensemblId": "ENSG00000166855",
          "biotype": "protein_coding",
          "start": 65148219,
          "end": 65185643,
          "strand": "-",
          "slug": "clpx"
        },
        {
          "symbol": "CILP",
          "ensemblId": "ENSG00000138615",
          "biotype": "protein_coding",
          "start": 65194760,
          "end": 65211491,
          "strand": "-",
          "slug": "cilp"
        },
        {
          "symbol": "PARP16",
          "ensemblId": "ENSG00000138617",
          "biotype": "protein_coding",
          "start": 65231398,
          "end": 65300618,
          "strand": "-",
          "slug": "parp16"
        },
        {
          "symbol": "IGDCC3",
          "ensemblId": "ENSG00000174498",
          "biotype": "protein_coding",
          "start": 65327127,
          "end": 65378087,
          "strand": "-",
          "slug": "igdcc3"
        },
        {
          "symbol": "IGDCC4",
          "ensemblId": "ENSG00000103742",
          "biotype": "protein_coding",
          "start": 65381479,
          "end": 65423083,
          "strand": "-",
          "slug": "igdcc4"
        },
        {
          "symbol": "DPP8",
          "ensemblId": "ENSG00000074603",
          "biotype": "protein_coding",
          "start": 65442463,
          "end": 65517757,
          "strand": "-",
          "slug": "dpp8"
        },
        {
          "symbol": "HACD3",
          "ensemblId": "ENSG00000074696",
          "biotype": "protein_coding",
          "start": 65530418,
          "end": 65578353,
          "strand": "+",
          "slug": "hacd3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-myopathies",
        "name": "Miopatie congenite",
        "diseases": [
          {
            "mondoId": "MONDO:0018958",
            "name": "Miopatia nemalinica",
            "genes": 12,
            "inheritance": null,
            "description": "Una miopatia congenita caratterizzata da strutture a forma di bastoncello nelle fibre muscolari, causata più spesso da varianti di NEB o ACTA1.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/congenital-myopathies"
      }
    ],
    "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": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "bulbar-signs",
        "name": "Bulbar signs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bulbar-signs"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "difficulty-running",
        "name": "Difficulty running",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/difficulty-running"
      },
      {
        "slug": "difficulty-climbing-stairs",
        "name": "Difficulty walking up stairs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/difficulty-climbing-stairs"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "emg-myopathic-abnormalities",
        "name": "EMG: myopathic abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities"
      },
      {
        "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": "fatigable-weakness-of-bulbar-muscles",
        "name": "Fatigable weakness of bulbar muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-bulbar-muscles"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "breech-presentation",
        "name": "Feet or buttocks of fetus positioned near opening of uterus",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/breech-presentation"
      },
      {
        "slug": "fetal-akinesia-sequence",
        "name": "Fetal akinesia sequence",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "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": "occasional",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-limb-muscle-atrophy",
        "name": "Generalized muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-limb-muscle-atrophy"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "increased-muscle-lipid-content",
        "name": "Increased muscle lipid content",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-muscle-lipid-content"
      },
      {
        "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": "limb-muscle-weakness",
        "name": "Limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-muscle-weakness"
      },
      {
        "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": "long-face",
        "name": "Long face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-face"
      },
      {
        "slug": "mildly-elevated-creatine-kinase",
        "name": "Mildly elevated creatine kinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-stiffness",
        "name": "Muscle stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-stiffness"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "narrow-face",
        "name": "Narrow face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/narrow-face"
      },
      {
        "slug": "neck-flexor-weakness",
        "name": "Neck flexion weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neck-flexor-weakness"
      },
      {
        "slug": "neck-muscle-weakness",
        "name": "Neck muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neck-muscle-weakness"
      },
      {
        "slug": "nemaline-bodies",
        "name": "Nemaline bodies",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nemaline-bodies"
      },
      {
        "slug": "neuromuscular-dysphagia",
        "name": "Neuromuscular dysphagia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neuromuscular-dysphagia"
      },
      {
        "slug": "poor-fine-motor-coordination",
        "name": "Poor fine motor coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/poor-fine-motor-coordination"
      },
      {
        "slug": "spinal-rigidity",
        "name": "Reduced spine movement",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spinal-rigidity"
      },
      {
        "slug": "reduced-vital-capacity",
        "name": "Reduced vital capacity",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-vital-capacity"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "slender-build",
        "name": "Slender build",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/slender-build"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "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": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/waddling-gait"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [
      {
        "slug": "acta1",
        "symbol": "ACTA1",
        "name": "actin alpha 1, skeletal muscle",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/acta1"
      },
      {
        "slug": "cfl2",
        "symbol": "CFL2",
        "name": "cofilin 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cfl2"
      },
      {
        "slug": "klhl40",
        "symbol": "KLHL40",
        "name": "kelch like family member 40",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/klhl40"
      },
      {
        "slug": "klhl41",
        "symbol": "KLHL41",
        "name": "kelch like family member 41",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/klhl41"
      },
      {
        "slug": "lmod3",
        "symbol": "LMOD3",
        "name": "leiomodin 3",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/lmod3"
      },
      {
        "slug": "mypn",
        "symbol": "MYPN",
        "name": "myopalladin",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/mypn"
      },
      {
        "slug": "neb",
        "symbol": "NEB",
        "name": "nebulin",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/neb"
      },
      {
        "slug": "selenon",
        "symbol": "SELENON",
        "name": "selenoprotein N",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/selenon"
      },
      {
        "slug": "tnnt1",
        "symbol": "TNNT1",
        "name": "troponin T1, slow skeletal type",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/tnnt1"
      },
      {
        "slug": "tpm2",
        "symbol": "TPM2",
        "name": "tropomyosin 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/tpm2"
      },
      {
        "slug": "tpm3",
        "symbol": "TPM3",
        "name": "tropomyosin 3",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/tpm3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}