{
  "url": "https://dantelabs.com/el/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": "Ομοκυστεϊνουρία και διαταραχές κοβαλαμίνης",
        "diseases": [
          {
            "mondoId": "MONDO:0004737",
            "name": "Ομοκυστεϊνουρία",
            "genes": 10,
            "inheritance": "autosomal-recessive",
            "description": "Περιλαμβάνει την κλασική ομοκυστεϊνουρία λόγω ανεπάρκειας CBS, τη σοβαρή ανεπάρκεια MTHFR και τις συνδυασμένες διαταραχές κοβαλαμίνης και επαναμεθυλίωσης, που μπορούν να προκαλέσουν εξαρθρημα του φακού, θρομβώσεις, σκελετικές αλλοιώσεις, αναιμία και αναπτυξιακά προβλήματα.",
            "management": "Η γνώση επιτρέπει τη θεραπεία με βιταμίνη B6, B12, φολικό οξύ, βεταΐνη και διατροφή, ανάλογα με την περίπτωση, η οποία μπορεί να προλάβει το εξάρθρημα του φακού, τη θρόμβωση και άλλες επιπλοκές.",
            "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": "Εγγενείς διαταραχές του μεταβολισμού και της μεταφοράς κοβαλαμίνης",
            "genes": 15,
            "inheritance": "autosomal-recessive",
            "description": "Περιλαμβάνει ελαττώματα στην απορρόφηση και μεταφορά της βιταμίνης B12, όπως το σύνδρομο Imerslund-Gräsbeck (CUBN, AMN), την ανεπάρκεια εγγενούς παράγοντα (CBLIF) και την ανεπάρκεια transcobalamin II (TCN2), καθώς και ελαττώματα στην ενδοκυτταρική επεξεργασία της κοβαλαμίνης, που μπορούν να προκαλέσουν μεγαloβλαστική αναιμία, νευρολογική βλάβη και καθυστέρηση ανάπτυξης.",
            "management": "Η γνώση επιτρέπει δια βίου ενέσεις βιταμίνης B12 ή άλλη θεραπεία με κοβαλαμίνη, η οποία μπορεί να προλάβει την αναιμία και τη νευρολογική βλάβη.",
            "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/el/conditions/homocystinuria-and-cobalamin-disorders"
      },
      {
        "slug": "methylmalonic-and-propionic-acidemia",
        "name": "Μεθυλμαλονική και Προπιονική Acidemia",
        "diseases": [
          {
            "mondoId": "MONDO:0002012",
            "name": "Μεθυλμαλονική Acidemia",
            "genes": 12,
            "inheritance": "autosomal-recessive",
            "description": "Προκαλείται από παραλλαγές στα MMUT, MMAA, MMAB, MCEE και σε συναφή γονίδια επεξεργασίας κοβαλαμίνης, οι οποίες μπορεί να προκαλέσουν εμέτους, κακή σίτιση, μεταβολικές κρίσεις, αναπτυξιακά προβλήματα και νεφρική νόσο.",
            "management": "Η γνώση επιτρέπει εξειδικευμένη διαιτητική διαχείριση, χορήγηση καρνιτίνης, βιταμίνης B12 για τις μορφές που ανταποκρίνονται και σχέδιο έκτακτης ανάγκης, γεγονός που μειώνει τον κίνδυνο κρίσεων.",
            "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/el/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/el/genes/abcd4"
      },
      {
        "slug": "hcfc1",
        "symbol": "HCFC1",
        "name": "host cell factor C1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/hcfc1"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "name": "metabolism of cobalamin associated C",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/mmachc"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "name": "metabolism of cobalamin associated D",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/mmadhc"
      },
      {
        "slug": "prdx1",
        "symbol": "PRDX1",
        "name": "peroxiredoxin 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/prdx1"
      },
      {
        "slug": "cd320",
        "symbol": "CD320",
        "name": "CD320 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/cd320"
      },
      {
        "slug": "mmaa",
        "symbol": "MMAA",
        "name": "metabolism of cobalamin associated A",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/mmaa"
      },
      {
        "slug": "mmab",
        "symbol": "MMAB",
        "name": "metabolism of cobalamin associated B",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/mmab"
      },
      {
        "slug": "mtr",
        "symbol": "MTR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/mtr"
      },
      {
        "slug": "mtrr",
        "symbol": "MTRR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/mtrr"
      },
      {
        "slug": "acsf3",
        "symbol": "ACSF3",
        "name": "acyl-CoA synthetase family member 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/acsf3"
      },
      {
        "slug": "amn",
        "symbol": "AMN",
        "name": "amnion associated transmembrane protein",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/amn"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}