{
  "url": "https://dantelabs.com/tr/genes/mttp",
  "gene": {
    "slug": "mttp",
    "symbol": "MTTP",
    "name": "microsomal triglyceride transfer protein",
    "hgnc": "HGNC:7467",
    "summary": null,
    "location": "4q23",
    "locusType": "gene with protein product",
    "aliases": [
      "ABL"
    ],
    "previousSymbols": [
      "MTP"
    ],
    "ensemblId": "ENSG00000138823",
    "entrezId": 4547,
    "omim": [
      "157147"
    ],
    "uniprot": [
      "P55157"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 99574824,
      "end": 99623997,
      "strand": "+",
      "ensemblTranscript": "ENST00000265517.10",
      "refseqTranscript": "NM_001386140.1",
      "ensemblProtein": "ENSP00000265517.5",
      "refseqProtein": "NP_001373069.1",
      "exons": [
        {
          "start": 99574824,
          "end": 99574970
        },
        {
          "start": 99581905,
          "end": 99582092
        },
        {
          "start": 99583374,
          "end": 99583517
        },
        {
          "start": 99589643,
          "end": 99589750
        },
        {
          "start": 99591235,
          "end": 99591351
        },
        {
          "start": 99591651,
          "end": 99591790
        },
        {
          "start": 99594733,
          "end": 99594883
        },
        {
          "start": 99597067,
          "end": 99597224
        },
        {
          "start": 99600565,
          "end": 99600733
        },
        {
          "start": 99601607,
          "end": 99601714
        },
        {
          "start": 99606748,
          "end": 99606960
        },
        {
          "start": 99608766,
          "end": 99608977
        },
        {
          "start": 99611143,
          "end": 99611240
        },
        {
          "start": 99611332,
          "end": 99611453
        },
        {
          "start": 99612913,
          "end": 99613140
        },
        {
          "start": 99618974,
          "end": 99619098
        },
        {
          "start": 99621061,
          "end": 99621231
        },
        {
          "start": 99622677,
          "end": 99623997
        }
      ],
      "cds": {
        "start": 99574910,
        "end": 99622848
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 100484918,
      "end": 100545156,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 99099411,
      "end": 100099410,
      "genes": [
        {
          "symbol": "ADH4",
          "ensemblId": "ENSG00000198099",
          "biotype": "protein_coding",
          "start": 99123502,
          "end": 99157792,
          "strand": "-",
          "slug": "adh4"
        },
        {
          "symbol": "ADH6",
          "ensemblId": "ENSG00000172955",
          "biotype": "protein_coding",
          "start": 99202424,
          "end": 99219537,
          "strand": "-",
          "slug": "adh6"
        },
        {
          "symbol": "ADH1A",
          "ensemblId": "ENSG00000187758",
          "biotype": "protein_coding",
          "start": 99275958,
          "end": 99291552,
          "strand": "-",
          "slug": "adh1a"
        },
        {
          "symbol": "ADH1B",
          "ensemblId": "ENSG00000196616",
          "biotype": "protein_coding",
          "start": 99304971,
          "end": 99321659,
          "strand": "-",
          "slug": "adh1b"
        },
        {
          "symbol": "ADH1C",
          "ensemblId": "ENSG00000248144",
          "biotype": "protein_coding",
          "start": 99336093,
          "end": 99382896,
          "strand": "-",
          "slug": "adh1c"
        },
        {
          "symbol": "ADH7",
          "ensemblId": "ENSG00000196344",
          "biotype": "protein_coding",
          "start": 99412261,
          "end": 99435698,
          "strand": "-",
          "slug": "adh7"
        },
        {
          "symbol": "C4orf17",
          "ensemblId": "ENSG00000138813",
          "biotype": "protein_coding",
          "start": 99511012,
          "end": 99542303,
          "strand": "+",
          "slug": "c4orf17"
        },
        {
          "symbol": "TRMT10A",
          "ensemblId": "ENSG00000145331",
          "biotype": "protein_coding",
          "start": 99546700,
          "end": 99564070,
          "strand": "-",
          "slug": "trmt10a"
        },
        {
          "symbol": "C4orf54",
          "ensemblId": "ENSG00000248713",
          "biotype": "protein_coding",
          "start": 99636529,
          "end": 99657828,
          "strand": "-",
          "slug": "c4orf54"
        },
        {
          "symbol": "DAPP1",
          "ensemblId": "ENSG00000070190",
          "biotype": "protein_coding",
          "start": 99816729,
          "end": 99872335,
          "strand": "+",
          "slug": "dapp1"
        },
        {
          "symbol": "LAMTOR3",
          "ensemblId": "ENSG00000109270",
          "biotype": "protein_coding",
          "start": 99874948,
          "end": 99894428,
          "strand": "-",
          "slug": "lamtor3"
        },
        {
          "symbol": "DNAJB14",
          "ensemblId": "ENSG00000164031",
          "biotype": "protein_coding",
          "start": 99896248,
          "end": 99946726,
          "strand": "-",
          "slug": "dnajb14"
        },
        {
          "symbol": "H2AZ1",
          "ensemblId": "ENSG00000164032",
          "biotype": "protein_coding",
          "start": 99948051,
          "end": 99950540,
          "strand": "-",
          "slug": "h2az1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-hypolipoproteinemias",
        "name": "Kalıtsal Hipolipoproteinemiler",
        "diseases": [
          {
            "mondoId": "MONDO:0017774",
            "name": "Hipobetalipoproteinemi",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Abetalipoproteinemi (MTTP), ailesel hipobetalipoproteinemi (APOB, ANGPTL3) ve şilomikron tutulum hastalığı (SAR1B) bu gruba girer; ağır formlar yağ emiliminde bozulmaya ve E vitamini eksikliğine bağlı sinir ve retina hasarına yol açar, hafif taşıyıcı formlar ise yalnızca LDL kolesterolünü düşürebilir ve karaciğer yağlanmasını artırabilir.",
            "management": "Bu bilgi, ağır formlarda yüksek doz E vitamini ve diğer yağda çözünen vitaminlerle birlikte düşük yağlı beslenmeyi mümkün kılar; bu da sinir ve göz hasarını önleyebilir veya sınırlayabilir.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/hereditary-hypolipoproteinemias"
      },
      {
        "slug": "autosomal-recessive-cerebellar-ataxias",
        "name": "Otozomal Çekinik Serebellar Ataksiler (CANVAS ve AVED dahil)",
        "diseases": [
          {
            "mondoId": "MONDO:0015244",
            "name": "Otozomal Çekinik Serebellar Ataksi",
            "genes": 57,
            "inheritance": "autosomal-recessive",
            "description": "RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 ve SYNE1 gibi genlerdeki bialelik varyantlardan kaynaklanan, çekinik olarak kalıtılan bir ataksi grubudur.",
            "management": "E vitamini eksikliğine bağlı ataksi (TTPA) E vitamini takviyeleriyle tedavi edilebilir; diğer formlar fizyoterapi ve semptomlara yönelik bakımla yönetilir ve yakınlara taşıyıcılık testi önerilebilir.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/autosomal-recessive-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abetalipoproteinemia",
        "name": "Abetalipoproteinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/abetalipoproteinemia"
      },
      {
        "slug": "abnormal-circulating-apolipoprotein-concentration",
        "name": "Abnormal circulating apolipoprotein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-apolipoprotein-concentration"
      },
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "acanthocytosis",
        "name": "Acanthocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/acanthocytosis"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "scotoma",
        "name": "Blind spot",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scotoma"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "cns-demyelination",
        "name": "CNS demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cns-demyelination"
      },
      {
        "slug": "corneal-ulceration",
        "name": "Corneal ulceration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/corneal-ulceration"
      },
      {
        "slug": "hypocholesterolemia",
        "name": "Decreased circulating cholesterol level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypocholesterolemia"
      },
      {
        "slug": "decreased-circulating-hdl-c-concentration",
        "name": "Decreased circulating high-density lipoprotein cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-hdl-c-concentration"
      },
      {
        "slug": "decreased-circulating-ldl-c-concentration",
        "name": "Decreased circulating LDL-C concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-ldl-c-concentration"
      },
      {
        "slug": "decreased-circulating-vitamin-d-concentration",
        "name": "Deficient in vitamin D",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-d-concentration"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "keratoconjunctivitis-sicca",
        "name": "Dry eye syndrome",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/keratoconjunctivitis-sicca"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "steatorrhea",
        "name": "Fat in feces",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/steatorrhea"
      },
      {
        "slug": "fat-malabsorption",
        "name": "Fat malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fat-malabsorption"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "fundus-hypopigmentation",
        "name": "Fundus hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fundus-hypopigmentation"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "impaired-distal-proprioception",
        "name": "Impaired distal proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-distal-proprioception"
      },
      {
        "slug": "impaired-proprioception",
        "name": "Impaired proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-proprioception"
      },
      {
        "slug": "impaired-vibratory-sensation",
        "name": "Impaired vibratory sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-vibratory-sensation"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "reticulocytosis",
        "name": "Increased immature red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reticulocytosis"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "hypotriglyceridemia",
        "name": "Low blood triglyceride levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotriglyceridemia"
      },
      {
        "slug": "decreased-erythrocyte-sedimentation-rate",
        "name": "Low ESR",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-erythrocyte-sedimentation-rate"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "peripheral-demyelination",
        "name": "Peripheral demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-demyelination"
      },
      {
        "slug": "positive-romberg-sign",
        "name": "Positive Romberg sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/positive-romberg-sign"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "upper-motor-neuron-dysfunction",
        "name": "Upper motor neuron dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/upper-motor-neuron-dysfunction"
      },
      {
        "slug": "reduced-circulating-vitamin-a-concentration",
        "name": "Vitamin A deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-circulating-vitamin-a-concentration"
      },
      {
        "slug": "decreased-circulating-vitamin-e-concentration",
        "name": "Vitamin E deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-e-concentration"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-based-gait"
      }
    ],
    "related": [
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ahi1"
      },
      {
        "slug": "angptl3",
        "symbol": "ANGPTL3",
        "name": "angiopoietin like 3",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/angptl3"
      },
      {
        "slug": "ano10",
        "symbol": "ANO10",
        "name": "anoctamin 10",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ano10"
      },
      {
        "slug": "apob",
        "symbol": "APOB",
        "name": "apolipoprotein B",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/apob"
      },
      {
        "slug": "atcay",
        "symbol": "ATCAY",
        "name": "ATCAY kinesin light chain interacting caytaxin",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/atcay"
      },
      {
        "slug": "atg7",
        "symbol": "ATG7",
        "name": "autophagy related 7",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/atg7"
      },
      {
        "slug": "atp8a2",
        "symbol": "ATP8A2",
        "name": "ATPase phospholipid transporting 8A2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/atp8a2"
      },
      {
        "slug": "ca8",
        "symbol": "CA8",
        "name": "carbonic anhydrase 8 (inactive)",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ca8"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cc2d2a"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cep290"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "name": "centrosomal protein 41",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cep41"
      },
      {
        "slug": "coa7",
        "symbol": "COA7",
        "name": "cytochrome c oxidase assembly factor 7",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/coa7"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}