{
  "url": "https://dantelabs.com/it/genes/plod2",
  "gene": {
    "slug": "plod2",
    "symbol": "PLOD2",
    "name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 2",
    "hgnc": "HGNC:9082",
    "summary": null,
    "location": "3q24",
    "locusType": "gene with protein product",
    "aliases": [
      "LH2",
      "TLH"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000152952",
    "entrezId": 5352,
    "omim": [
      "601865"
    ],
    "uniprot": [
      "O00469"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 146069440,
      "end": 146161184,
      "strand": "-",
      "ensemblTranscript": "ENST00000282903.10",
      "refseqTranscript": "NM_182943.3",
      "ensemblProtein": "ENSP00000282903.5",
      "refseqProtein": "NP_891988.1",
      "exons": [
        {
          "start": 146069440,
          "end": 146070872
        },
        {
          "start": 146071042,
          "end": 146071167
        },
        {
          "start": 146071277,
          "end": 146071423
        },
        {
          "start": 146072561,
          "end": 146072665
        },
        {
          "start": 146073287,
          "end": 146073352
        },
        {
          "start": 146076782,
          "end": 146076895
        },
        {
          "start": 146077862,
          "end": 146077924
        },
        {
          "start": 146079116,
          "end": 146079257
        },
        {
          "start": 146081738,
          "end": 146081863
        },
        {
          "start": 146085169,
          "end": 146085273
        },
        {
          "start": 146086787,
          "end": 146086908
        },
        {
          "start": 146088586,
          "end": 146088711
        },
        {
          "start": 146091800,
          "end": 146091901
        },
        {
          "start": 146102755,
          "end": 146102852
        },
        {
          "start": 146104279,
          "end": 146104342
        },
        {
          "start": 146106532,
          "end": 146106644
        },
        {
          "start": 146110285,
          "end": 146110448
        },
        {
          "start": 146121112,
          "end": 146121248
        },
        {
          "start": 146124138,
          "end": 146124229
        },
        {
          "start": 146160881,
          "end": 146161184
        }
      ],
      "cds": {
        "start": 146070717,
        "end": 146160989
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 145787227,
      "end": 145881440,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 145615312,
      "end": 146615311,
      "genes": [
        {
          "symbol": "PLSCR4",
          "ensemblId": "ENSG00000114698",
          "biotype": "protein_coding",
          "start": 146192318,
          "end": 146251220,
          "strand": "-",
          "slug": "plscr4"
        },
        {
          "symbol": "PLSCR2",
          "ensemblId": "ENSG00000163746",
          "biotype": "protein_coding",
          "start": 146391366,
          "end": 146495991,
          "strand": "-",
          "slug": "plscr2"
        },
        {
          "symbol": "PLSCR1",
          "ensemblId": "ENSG00000188313",
          "biotype": "protein_coding",
          "start": 146511858,
          "end": 146544862,
          "strand": "-",
          "slug": "plscr1"
        },
        {
          "symbol": "PLSCR5",
          "ensemblId": "ENSG00000231213",
          "biotype": "protein_coding",
          "start": 146576555,
          "end": 146605346,
          "strand": "-",
          "slug": "plscr5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "osteogenesis-imperfecta",
        "name": "Osteogenesi imperfetta",
        "diseases": [
          {
            "mondoId": "MONDO:0019019",
            "name": "Osteogenesi imperfetta",
            "genes": 34,
            "inheritance": null,
            "description": "Un gruppo di disturbi ereditari del tessuto connettivo che causa fragilità ossea e predisposizione alle fratture, spesso accompagnato da sclere blu, ipoacusia e problemi odontoiatrici.",
            "management": "Bisfosfonati ciclici per via endovenosa (pamidronate, zoledronate); chiodatura ortopedica endomidollare delle ossa lunghe; fisioterapia; denosumab (in uso clinico per l'OI pediatrica); romosozumab (in fase di sviluppo); monitoraggio dell'udito; gestione odontoiatrica per la dentinogenesi imperfetta",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/osteogenesis-imperfecta"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "slug": "cervical-c6-c7-vertebrae-fusion",
        "name": "Cervical C6/C7 vertebrae fusion",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cervical-c6-c7-vertebrae-fusion"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "hydroxyprolinuria",
        "name": "Elevated urinary hydroxyproline",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hydroxyprolinuria"
      },
      {
        "slug": "wormian-bones",
        "name": "Extra bones within cranial sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wormian-bones"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "metaphyseal-undermodelling",
        "name": "Metaphyseal undermodelling",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-undermodelling"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "pterygium",
        "name": "Pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pterygium"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/triangular-face"
      }
    ],
    "related": [
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ano5"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "name": "ATPase H+ transporting V0 subunit a2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/atp6v0a2"
      },
      {
        "slug": "bmp1",
        "symbol": "BMP1",
        "name": "bone morphogenetic protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/bmp1"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "name": "collagen type I alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/col1a1"
      },
      {
        "slug": "col1a2",
        "symbol": "COL1A2",
        "name": "collagen type I alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/col1a2"
      },
      {
        "slug": "creb3l1",
        "symbol": "CREB3L1",
        "name": "cAMP responsive element binding protein 3 like 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/creb3l1"
      },
      {
        "slug": "crtap",
        "symbol": "CRTAP",
        "name": "cartilage associated protein",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/crtap"
      },
      {
        "slug": "fkbp10",
        "symbol": "FKBP10",
        "name": "FKBP prolyl isomerase 10",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/fkbp10"
      },
      {
        "slug": "gorab",
        "symbol": "GORAB",
        "name": "golgin, RAB6 interacting",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/gorab"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ifih1"
      },
      {
        "slug": "ifitm5",
        "symbol": "IFITM5",
        "name": "interferon induced transmembrane protein 5",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/ifitm5"
      },
      {
        "slug": "kdelr2",
        "symbol": "KDELR2",
        "name": "KDEL endoplasmic reticulum protein retention receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/kdelr2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}