{
  "url": "https://dantelabs.com/da/genes/col6a1",
  "gene": {
    "slug": "col6a1",
    "symbol": "COL6A1",
    "name": "collagen type VI alpha 1 chain",
    "hgnc": "HGNC:2211",
    "summary": null,
    "location": "21q22.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000142156",
    "entrezId": 1291,
    "omim": [
      "120220"
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    "uniprot": [
      "P12109"
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      "release": "v1.5",
      "chrom": "21",
      "start": 45981770,
      "end": 46005048,
      "strand": "+",
      "ensemblTranscript": "ENST00000361866.8",
      "refseqTranscript": "NM_001848.3",
      "ensemblProtein": "ENSP00000355180.3",
      "refseqProtein": "NP_001839.2",
      "exons": [
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      ],
      "cds": {
        "start": 45981851,
        "end": 46004013
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "21",
      "start": 47401651,
      "end": 47424964,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 45493409,
      "end": 46493408,
      "genes": [
        {
          "symbol": "COL18A1",
          "ensemblId": "ENSG00000182871",
          "biotype": "protein_coding",
          "start": 45405118,
          "end": 45513721,
          "strand": "+",
          "slug": "col18a1"
        },
        {
          "symbol": "SLC19A1",
          "ensemblId": "ENSG00000173638",
          "biotype": "protein_coding",
          "start": 45493572,
          "end": 45573564,
          "strand": "-",
          "slug": "slc19a1"
        },
        {
          "symbol": "PCBP3",
          "ensemblId": "ENSG00000183570",
          "biotype": "protein_coding",
          "start": 45643661,
          "end": 45942454,
          "strand": "+",
          "slug": "pcbp3"
        },
        {
          "symbol": "COL6A2",
          "ensemblId": "ENSG00000142173",
          "biotype": "protein_coding",
          "start": 46096722,
          "end": 46132851,
          "strand": "+",
          "slug": "col6a2"
        },
        {
          "symbol": "FTCD",
          "ensemblId": "ENSG00000160282",
          "biotype": "protein_coding",
          "start": 46136082,
          "end": 46156047,
          "strand": "-",
          "slug": "ftcd"
        },
        {
          "symbol": "SPATC1L",
          "ensemblId": "ENSG00000160284",
          "biotype": "protein_coding",
          "start": 46161148,
          "end": 46184476,
          "strand": "-",
          "slug": "spatc1l"
        },
        {
          "symbol": "LSS",
          "ensemblId": "ENSG00000160285",
          "biotype": "protein_coding",
          "start": 46187299,
          "end": 46228840,
          "strand": "-",
          "slug": "lss"
        },
        {
          "symbol": "MCM3AP",
          "ensemblId": "ENSG00000160294",
          "biotype": "protein_coding",
          "start": 46232689,
          "end": 46286617,
          "strand": "-",
          "slug": "mcm3ap"
        },
        {
          "symbol": "YBEY",
          "ensemblId": "ENSG00000182362",
          "biotype": "protein_coding",
          "start": 46285831,
          "end": 46313301,
          "strand": "+",
          "slug": "ybey"
        },
        {
          "symbol": "C21orf58",
          "ensemblId": "ENSG00000160298",
          "biotype": "protein_coding",
          "start": 46291929,
          "end": 46324470,
          "strand": "-",
          "slug": "c21orf58"
        },
        {
          "symbol": "PCNT",
          "ensemblId": "ENSG00000160299",
          "biotype": "protein_coding",
          "start": 46324082,
          "end": 46445769,
          "strand": "+",
          "slug": "pcnt"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286224",
          "biotype": "protein_coding",
          "start": 46326288,
          "end": 46326491,
          "strand": "+"
        },
        {
          "symbol": "DIP2A",
          "ensemblId": "ENSG00000160305",
          "biotype": "protein_coding",
          "start": 46458841,
          "end": 46572746,
          "strand": "+",
          "slug": "dip2a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-muscular-dystrophies",
        "name": "Medfødte muskeldystrofier",
        "diseases": [
          {
            "mondoId": "MONDO:0100225",
            "name": "Kollagen VI-relateret myopati",
            "genes": 3,
            "inheritance": null,
            "description": "Et spektrum af muskelsygdomme forårsaget af varianter i COL6A1, COL6A2 eller COL6A3, fra svær medfødt Ullrich-muskeldystrofi til mildere Bethlem-myopati, med svaghed og ledkontrakturer.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019950",
            "name": "Medfødt muskeldystrofi",
            "genes": 29,
            "inheritance": null,
            "description": "En gruppe muskeldystrofier med debut ved fødslen eller i spædbarnsalderen, herunder dystroglykanopatier (såsom former relateret til FKRP, FKTN og POMT1/2).",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/congenital-muscular-dystrophies"
      },
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "name": "Gördelmuskeldystrofi (Limb-Girdle Muscular Dystrophy)",
        "diseases": [
          {
            "mondoId": "MONDO:0016971",
            "name": "Gördelmuskeldystrofi (Limb-Girdle Muscular Dystrophy)",
            "genes": 33,
            "inheritance": null,
            "description": "Gördelmuskeldystrofi (Limb-Girdle Muscular Dystrophy) defineres som en samling af en lang række undertyper med forskellige arvemønstre (og med varierende grad af diagnostisk sikkerhed). Bærere af varianter, der er relateret til sygdommen, bør søge vejledning hos en specialist i muskel- og skeletsygdomme for at få en endelig diagnose.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/limb-girdle-muscular-dystrophy"
      }
    ],
    "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": "abnormal-muscle-fiber-morphology",
        "name": "Abnormal muscle fiber morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-muscle-fiber-morphology"
      },
      {
        "slug": "abnormality-of-the-cardiovascular-system",
        "name": "Abnormality of the cardiovascular system",
        "systems": [],
        "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system"
      },
      {
        "slug": "abnormal-palate-morphology",
        "name": "Abnormality of the palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-palate-morphology"
      },
      {
        "slug": "abnormality-of-the-respiratory-system",
        "name": "Abnormality of the respiratory system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "ankle-contracture",
        "name": "Ankle contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ankle-contracture"
      },
      {
        "slug": "ankle-flexion-contracture",
        "name": "Ankle flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ankle-flexion-contracture"
      },
      {
        "slug": "ankle-hypermobility",
        "name": "Ankle hypermobility",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ankle-hypermobility"
      },
      {
        "slug": "axial-muscle-weakness",
        "name": "Axial muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "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"
        ],
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "macroscopic-hematuria",
        "name": "Bloody urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macroscopic-hematuria"
      },
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "keratosis-pilaris",
        "name": "Chicken skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/keratosis-pilaris"
      },
      {
        "slug": "cigarette-paper-scars",
        "name": "Cigarette-paper scars",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cigarette-paper-scars"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "congenital-muscular-torticollis",
        "name": "Congenital muscular torticollis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/congenital-muscular-torticollis"
      },
      {
        "slug": "curved-toe-phalanx",
        "name": "Curved toe bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/curved-toe-phalanx"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "difficulty-running",
        "name": "Difficulty running",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/difficulty-running"
      },
      {
        "slug": "difficulty-climbing-stairs",
        "name": "Difficulty walking up stairs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/difficulty-climbing-stairs"
      },
      {
        "slug": "generalized-amyotrophy",
        "name": "Diffuse skeletal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-amyotrophy"
      },
      {
        "slug": "distal-joint-hypermobility",
        "name": "Distal joint hypermobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-joint-hypermobility"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "elbow-contracture",
        "name": "Elbow contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elbow-contracture"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "emg-myopathic-abnormalities",
        "name": "EMG: myopathic abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatty-replacement-of-skeletal-muscle",
        "name": "Fatty replacement of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "fiber-type-grouping",
        "name": "Fiber type grouping",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fiber-type-grouping"
      },
      {
        "slug": "finger-joint-contracture",
        "name": "Finger joint contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/finger-joint-contracture"
      },
      {
        "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": "follicular-hyperkeratosis",
        "name": "Follicular hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/follicular-hyperkeratosis"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "increased-endomysial-connective-tissue",
        "name": "Increased endomysial connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-endomysial-connective-tissue"
      },
      {
        "slug": "increased-laxity-of-fingers",
        "name": "Increased laxity of fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-laxity-of-fingers"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "wrist-hypermobility",
        "name": "Increased wrist mobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wrist-hypermobility"
      },
      {
        "slug": "interphalangeal-joint-contracture-of-finger",
        "name": "Interphalangeal joint contracture of finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/interphalangeal-joint-contracture-of-finger"
      },
      {
        "slug": "adducted-thumb",
        "name": "Inward turned thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adducted-thumb"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "limb-girdle-muscle-weakness",
        "name": "Limb-girdle muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-girdle-muscle-weakness"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "long-toe",
        "name": "Long toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-toe"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "mildly-elevated-creatine-kinase",
        "name": "Mildly elevated creatine kinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "multiple-joint-contractures",
        "name": "Multiple joint contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multiple-joint-contractures"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-fiber-necrosis",
        "name": "Muscle fiber necrosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-fiber-necrosis"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "muscular-dystrophy",
        "name": "Muscular dystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscular-dystrophy"
      },
      {
        "slug": "neck-muscle-weakness",
        "name": "Neck muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neck-muscle-weakness"
      },
      {
        "slug": "nocturnal-hypoventilation",
        "name": "Nocturnal hypoventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/nocturnal-hypoventilation"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "pes-valgus",
        "name": "Pes valgus",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-valgus"
      },
      {
        "slug": "progressive-proximal-muscle-weakness",
        "name": "Progressive proximal muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-proximal-muscle-weakness"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "quadriceps-muscle-weakness",
        "name": "Quadriceps weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/quadriceps-muscle-weakness"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "reduced-maximal-expiratory-pressure",
        "name": "Reduced maximal expiratory pressure",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-maximal-expiratory-pressure"
      },
      {
        "slug": "reduced-muscle-collagen-vi",
        "name": "Reduced muscle collagen VI",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-muscle-collagen-vi"
      },
      {
        "slug": "spinal-rigidity",
        "name": "Reduced spine movement",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spinal-rigidity"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "rimmed-vacuoles",
        "name": "Rimmed vacuoles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rimmed-vacuoles"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "achilles-tendon-contracture",
        "name": "Shortening of the achilles tendon",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/achilles-tendon-contracture"
      },
      {
        "slug": "shoulder-girdle-muscle-atrophy",
        "name": "Shoulder girdle muscle wasting",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-atrophy"
      },
      {
        "slug": "slender-build",
        "name": "Slender build",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/slender-build"
      },
      {
        "slug": "slender-finger",
        "name": "Slender finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slender-finger"
      },
      {
        "slug": "hypoventilation",
        "name": "Slow breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoventilation"
      },
      {
        "slug": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "type-1-muscle-fiber-predominance",
        "name": "Type 1 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "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": "diaphragmatic-weakness",
        "name": "Weak diaphragm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diaphragmatic-weakness"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      },
      {
        "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"
      },
      {
        "slug": "wrist-flexion-contracture",
        "name": "Wrist flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wrist-flexion-contracture"
      },
      {
        "slug": "torticollis",
        "name": "Wry neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/torticollis"
      }
    ],
    "related": [
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "name": "collagen type VI alpha 2 chain",
        "shared": 3,
        "url": "https://dantelabs.com/da/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 3,
        "url": "https://dantelabs.com/da/genes/col6a3"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "name": "dystroglycan 1",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/dag1"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "name": "fukutin related protein",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/fktn"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "name": "GDP-mannose pyrophosphorylase B",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/gmppb"
      },
      {
        "slug": "lama2",
        "symbol": "LAMA2",
        "name": "laminin subunit alpha 2",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/lama2"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/pomgnt1"
      },
      {
        "slug": "snupn",
        "symbol": "SNUPN",
        "name": "snurportin 1",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/snupn"
      },
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/ano5"
      },
      {
        "slug": "b3galnt2",
        "symbol": "B3GALNT2",
        "name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/b3galnt2"
      },
      {
        "slug": "b4gat1",
        "symbol": "B4GAT1",
        "name": "beta-1,4-glucuronyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/b4gat1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}