{
  "url": "https://dantelabs.com/el/genes/mmadhc",
  "gene": {
    "slug": "mmadhc",
    "symbol": "MMADHC",
    "name": "metabolism of cobalamin associated D",
    "hgnc": "HGNC:25221",
    "summary": null,
    "location": "2q23.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CL25022",
      "cblD"
    ],
    "previousSymbols": [
      "C2orf25"
    ],
    "ensemblId": "ENSG00000168288",
    "entrezId": 27249,
    "omim": [
      "611935"
    ],
    "uniprot": [
      "Q9H3L0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 149569637,
      "end": 149587775,
      "strand": "-",
      "ensemblTranscript": "ENST00000303319.10",
      "refseqTranscript": "NM_015702.3",
      "ensemblProtein": "ENSP00000301920.5",
      "refseqProtein": "NP_056517.1",
      "exons": [
        {
          "start": 149569637,
          "end": 149570168
        },
        {
          "start": 149571085,
          "end": 149571171
        },
        {
          "start": 149575711,
          "end": 149575841
        },
        {
          "start": 149576437,
          "end": 149576542
        },
        {
          "start": 149579431,
          "end": 149579648
        },
        {
          "start": 149582127,
          "end": 149582271
        },
        {
          "start": 149587089,
          "end": 149587149
        },
        {
          "start": 149587664,
          "end": 149587775
        }
      ],
      "cds": {
        "start": 149569974,
        "end": 149587097
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 150426148,
      "end": 150444330,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 149078706,
      "end": 150078705,
      "genes": [
        {
          "symbol": "LYPD6B",
          "ensemblId": "ENSG00000150556",
          "biotype": "protein_coding",
          "start": 149037975,
          "end": 149215266,
          "strand": "+",
          "slug": "lypd6b"
        },
        {
          "symbol": "LYPD6",
          "ensemblId": "ENSG00000187123",
          "biotype": "protein_coding",
          "start": 149329985,
          "end": 149474139,
          "strand": "+",
          "slug": "lypd6"
        }
      ],
      "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": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "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)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "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": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/methylmalonic-and-propionic-acidemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "absent-achilles-reflex",
        "name": "Absent ankle reflexes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-achilles-reflex"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "intracranial-hemorrhage",
        "name": "Bleeding within the skull",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intracranial-hemorrhage"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "decreased-circulating-adenosylcobalamin-concentration",
        "name": "Decreased circulating adenosylcobalamin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-adenosylcobalamin-concentration"
      },
      {
        "slug": "decreased-circulating-methylcobalamin-concentration",
        "name": "Decreased circulating methylcobalamin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "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": "decreased-methylmalonyl-coa-mutase-activity",
        "name": "Decreased methylmalonyl-CoA mutase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-methylmalonyl-coa-mutase-activity"
      },
      {
        "slug": "hypomethioninemia",
        "name": "Decreased plasma methionine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypomethioninemia"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "hyperhomocystinemia",
        "name": "Elevated blood homocystine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperhomocystinemia"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "homocystinuria",
        "name": "High urine homocystine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/homocystinuria"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "increased-circulating-folate-concentration",
        "name": "Increased circulating folate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-folate-concentration"
      },
      {
        "slug": "increased-mean-corpuscular-volume",
        "name": "Increased mean corpuscular volume",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-mean-corpuscular-volume"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "interictal-eeg-abnormality",
        "name": "Interictal EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/interictal-eeg-abnormality"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "ketoacidosis",
        "name": "Ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ketoacidosis"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "megaloblastic-anemia",
        "name": "Megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/megaloblastic-anemia"
      },
      {
        "slug": "megaloblastic-bone-marrow",
        "name": "Megaloblastic bone marrow",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/megaloblastic-bone-marrow"
      },
      {
        "slug": "methylmalonic-acidemia",
        "name": "Methylmalonic acidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "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": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "necrotizing-enterocolitis",
        "name": "Necrotizing enterocolitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/necrotizing-enterocolitis"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "spastic-ataxia",
        "name": "Spastic ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-ataxia"
      }
    ],
    "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": "lmbrd1",
        "symbol": "LMBRD1",
        "name": "LMBR1 domain containing 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/lmbrd1"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "name": "metabolism of cobalamin associated C",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/mmachc"
      },
      {
        "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": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}