{
  "url": "https://dantelabs.com/nl/genes/lmbrd1",
  "gene": {
    "slug": "lmbrd1",
    "symbol": "LMBRD1",
    "name": "LMBR1 domain containing 1",
    "hgnc": "HGNC:23038",
    "summary": null,
    "location": "6q13",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ11240",
      "bA810I22.1",
      "cblF"
    ],
    "previousSymbols": [
      "C6orf209"
    ],
    "ensemblId": "ENSG00000168216",
    "entrezId": 55788,
    "omim": [
      "612625"
    ],
    "uniprot": [
      "Q9NUN5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 69674010,
      "end": 69797010,
      "strand": "-",
      "ensemblTranscript": "ENST00000649934.3",
      "refseqTranscript": "NM_018368.4",
      "ensemblProtein": "ENSP00000497690.1",
      "refseqProtein": "NP_060838.3",
      "exons": [
        {
          "start": 69674010,
          "end": 69676271
        },
        {
          "start": 69676450,
          "end": 69676541
        },
        {
          "start": 69697563,
          "end": 69697641
        },
        {
          "start": 69699043,
          "end": 69699192
        },
        {
          "start": 69700765,
          "end": 69700869
        },
        {
          "start": 69701443,
          "end": 69701545
        },
        {
          "start": 69701889,
          "end": 69701953
        },
        {
          "start": 69713645,
          "end": 69713797
        },
        {
          "start": 69718956,
          "end": 69719081
        },
        {
          "start": 69737942,
          "end": 69738015
        },
        {
          "start": 69741789,
          "end": 69741877
        },
        {
          "start": 69749341,
          "end": 69749408
        },
        {
          "start": 69752259,
          "end": 69752356
        },
        {
          "start": 69780494,
          "end": 69780554
        },
        {
          "start": 69790296,
          "end": 69790472
        },
        {
          "start": 69796813,
          "end": 69797010
        }
      ],
      "cds": {
        "start": 69676158,
        "end": 69796881
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 70385694,
      "end": 70507003,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 69235510,
      "end": 70235509,
      "genes": [
        {
          "symbol": "ADGRB3",
          "ensemblId": "ENSG00000135298",
          "biotype": "protein_coding",
          "start": 68635275,
          "end": 69390571,
          "strand": "+",
          "slug": "adgrb3"
        },
        {
          "symbol": "COL19A1",
          "ensemblId": "ENSG00000082293",
          "biotype": "protein_coding",
          "start": 69866428,
          "end": 70215059,
          "strand": "+",
          "slug": "col19a1"
        },
        {
          "symbol": "COL9A1",
          "ensemblId": "ENSG00000112280",
          "biotype": "protein_coding",
          "start": 70216035,
          "end": 70303084,
          "strand": "-",
          "slug": "col9a1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "homocystinuria-and-cobalamin-disorders",
        "name": "Homocystinurie en stoornissen van cobalamine (vitamine B12)",
        "diseases": [
          {
            "mondoId": "MONDO:0004737",
            "name": "Homocystinurie",
            "genes": 10,
            "inheritance": "autosomal-recessive",
            "description": "Omvat klassieke homocystinurie door CBS-deficiëntie, ernstige MTHFR-deficiëntie en de gecombineerde en remethyleringsstoornissen van cobalamine, die kunnen leiden tot ontwrichting van de ooglens, bloedstolsels, skeletafwijkingen, bloedarmoede en ontwikkelingsproblemen.",
            "management": "Als u dit weet, kan er behandeld worden met vitamine B6, B12, foliumzuur, betaïne en dieet, naar gelang het geval. Dit kan ontwrichting van de ooglens, trombose en andere complicaties voorkomen.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019220",
            "name": "Aangeboren stoornissen van de cobalaminestofwisseling en -transport",
            "genes": 15,
            "inheritance": "autosomal-recessive",
            "description": "Omvat defecten in de opname en het transport van vitamine B12, zoals het syndroom van Imerslund-Gräsbeck (CUBN, AMN), intrinsieke-factordeficiëntie (CBLIF) en transcobalamine II-deficiëntie (TCN2), evenals defecten in de intracellulaire verwerking van cobalamine, die kunnen leiden tot megaloblastaire anemie, zenuwschade en groeiachterstand.",
            "management": "Als u dit weet, kunt u levenslang vitamine B12-injecties of andere cobalamine-behandeling krijgen. Dit kan anemie en neurologische schade voorkomen.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/homocystinuria-and-cobalamin-disorders"
      },
      {
        "slug": "methylmalonic-and-propionic-acidemia",
        "name": "Methylmalonzuur- en propionzuuracidemie",
        "diseases": [
          {
            "mondoId": "MONDO:0002012",
            "name": "Methylmalonzuuracidemie",
            "genes": 12,
            "inheritance": "autosomal-recessive",
            "description": "Veroorzaakt door varianten in MMUT, MMAA, MMAB, MCEE en verwante genen voor de verwerking van cobalamine, die braken, slechte voeding, metabole crises, ontwikkelingsproblemen en nierziekte kunnen veroorzaken.",
            "management": "Door dit te weten kunt u gespecialiseerd dieetbeheer, carnitine, vitamine B12 voor responsieve vormen en een noodplan laten opstellen, wat het risico op crises verkleint.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/methylmalonic-and-propionic-acidemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "tracheoesophageal-fistula",
        "name": "Abnormal connection between trachea and esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tracheoesophageal-fistula"
      },
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormal-heart-morphology",
        "name": "Abnormality of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-heart-morphology"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "decreased-circulating-adenosylcobalamin-concentration",
        "name": "Decreased circulating adenosylcobalamin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-adenosylcobalamin-concentration"
      },
      {
        "slug": "decreased-circulating-methylcobalamin-concentration",
        "name": "Decreased circulating methylcobalamin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-methylcobalamin-concentration"
      },
      {
        "slug": "decreased-methionine-synthase-activity",
        "name": "Decreased methionine synthase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-methionine-synthase-activity"
      },
      {
        "slug": "hypomethioninemia",
        "name": "Decreased plasma methionine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypomethioninemia"
      },
      {
        "slug": "hyperhomocystinemia",
        "name": "Elevated blood homocystine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperhomocystinemia"
      },
      {
        "slug": "elevated-circulating-palmitoleylcarnitine-concentration",
        "name": "Elevated circulating palmitoleylcarnitine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-palmitoleylcarnitine-concentration"
      },
      {
        "slug": "elevated-circulating-propionylcarnitine-concentration",
        "name": "Elevated circulating propionylcarnitine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-propionylcarnitine-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "dextrocardia",
        "name": "Heart tip and four chambers point towards right side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dextrocardia"
      },
      {
        "slug": "cystathioninemia",
        "name": "High blood cystathionine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/cystathioninemia"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "cystathioninuria",
        "name": "High urine cystathionine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/cystathioninuria"
      },
      {
        "slug": "homocystinuria",
        "name": "High urine homocystine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/homocystinuria"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "stomatitis",
        "name": "Inflammation of the mouth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stomatitis"
      },
      {
        "slug": "glossitis",
        "name": "Inflammation of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glossitis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intraventricular-hemorrhage",
        "name": "Intraventricular hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intraventricular-hemorrhage"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "megaloblastic-anemia",
        "name": "Megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/megaloblastic-anemia"
      },
      {
        "slug": "methylmalonic-acidemia",
        "name": "Methylmalonic acidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/methylmalonic-acidemia"
      },
      {
        "slug": "methylmalonic-aciduria",
        "name": "Methylmalonic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/methylmalonic-aciduria"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "reduced-number-of-intrahepatic-bile-ducts",
        "name": "Reduced number of intrahepatic bile ducts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-number-of-intrahepatic-bile-ducts"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "decreased-circulating-vitamin-b12-concentration",
        "name": "Vitamin B12 deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-b12-concentration"
      }
    ],
    "related": [
      {
        "slug": "abcd4",
        "symbol": "ABCD4",
        "name": "ATP binding cassette subfamily D member 4",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/abcd4"
      },
      {
        "slug": "hcfc1",
        "symbol": "HCFC1",
        "name": "host cell factor C1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/hcfc1"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "name": "metabolism of cobalamin associated C",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/mmachc"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "name": "metabolism of cobalamin associated D",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/mmadhc"
      },
      {
        "slug": "prdx1",
        "symbol": "PRDX1",
        "name": "peroxiredoxin 1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/prdx1"
      },
      {
        "slug": "cd320",
        "symbol": "CD320",
        "name": "CD320 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/cd320"
      },
      {
        "slug": "mmaa",
        "symbol": "MMAA",
        "name": "metabolism of cobalamin associated A",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/mmaa"
      },
      {
        "slug": "mmab",
        "symbol": "MMAB",
        "name": "metabolism of cobalamin associated B",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/mmab"
      },
      {
        "slug": "mtr",
        "symbol": "MTR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/mtr"
      },
      {
        "slug": "mtrr",
        "symbol": "MTRR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/mtrr"
      },
      {
        "slug": "acsf3",
        "symbol": "ACSF3",
        "name": "acyl-CoA synthetase family member 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/acsf3"
      },
      {
        "slug": "amn",
        "symbol": "AMN",
        "name": "amnion associated transmembrane protein",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/amn"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}