{
  "url": "https://dantelabs.com/es/genes/ttc7a",
  "gene": {
    "slug": "ttc7a",
    "symbol": "TTC7A",
    "name": "tetratricopeptide repeat domain 7A",
    "hgnc": "HGNC:19750",
    "summary": null,
    "location": "2p21",
    "locusType": "gene with protein product",
    "aliases": [
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    "previousSymbols": [
      "TTC7"
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    "entrezId": 57217,
    "omim": [
      "609332"
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    "uniprot": [
      "Q9ULT0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
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      "start": 46941224,
      "end": 47076123,
      "strand": "+",
      "ensemblTranscript": "ENST00000319190.11",
      "refseqTranscript": "NM_020458.4",
      "ensemblProtein": "ENSP00000316699.5",
      "refseqProtein": "NP_065191.2",
      "exons": [
        {
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        {
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        {
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      ],
      "cds": {
        "start": 46941542,
        "end": 47073923
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 47143296,
      "end": 47303276,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 46508674,
      "end": 47508673,
      "genes": [
        {
          "symbol": "ATP6V1E2",
          "ensemblId": "ENSG00000250565",
          "biotype": "protein_coding",
          "start": 46490750,
          "end": 46543287,
          "strand": "-",
          "slug": "atp6v1e2"
        },
        {
          "symbol": "RHOQ",
          "ensemblId": "ENSG00000119729",
          "biotype": "protein_coding",
          "start": 46541806,
          "end": 46602046,
          "strand": "+",
          "slug": "rhoq"
        },
        {
          "symbol": "PIGF",
          "ensemblId": "ENSG00000151665",
          "biotype": "protein_coding",
          "start": 46580937,
          "end": 46617067,
          "strand": "-",
          "slug": "pigf"
        },
        {
          "symbol": "CRIPT",
          "ensemblId": "ENSG00000119878",
          "biotype": "protein_coding",
          "start": 46616416,
          "end": 46685037,
          "strand": "+",
          "slug": "cript"
        },
        {
          "symbol": "SOCS5",
          "ensemblId": "ENSG00000171150",
          "biotype": "protein_coding",
          "start": 46698423,
          "end": 46781466,
          "strand": "+",
          "slug": "socs5"
        },
        {
          "symbol": "MCFD2",
          "ensemblId": "ENSG00000180398",
          "biotype": "protein_coding",
          "start": 46895793,
          "end": 46941855,
          "strand": "-",
          "slug": "mcfd2"
        },
        {
          "symbol": "STPG4",
          "ensemblId": "ENSG00000239605",
          "biotype": "protein_coding",
          "start": 47045538,
          "end": 47155308,
          "strand": "-",
          "slug": "stpg4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000273269",
          "biotype": "protein_coding",
          "start": 47065941,
          "end": 47176511,
          "strand": "-"
        },
        {
          "symbol": "CALM2",
          "ensemblId": "ENSG00000143933",
          "biotype": "protein_coding",
          "start": 47160084,
          "end": 47176921,
          "strand": "-",
          "slug": "calm2"
        },
        {
          "symbol": "EPCAM",
          "ensemblId": "ENSG00000119888",
          "biotype": "protein_coding",
          "start": 47345158,
          "end": 47387601,
          "strand": "+",
          "slug": "epcam"
        },
        {
          "symbol": "MSH2",
          "ensemblId": "ENSG00000095002",
          "biotype": "protein_coding",
          "start": 47403067,
          "end": 47663146,
          "strand": "+",
          "slug": "msh2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-intestinal-atresia-and-short-bowel",
        "name": "Atresia intestinal congénita y intestino corto",
        "diseases": [
          {
            "mondoId": "MONDO:0009465",
            "name": "Atresia intestinal múltiple",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Múltiples obstrucciones a lo largo del intestino presentes al nacer, causadas por variantes en TTC7A y a menudo acompañadas de inmunodeficiencia combinada y enfermedad inflamatoria intestinal de inicio muy temprano.",
            "management": "Conocer la causa permite orientar la evaluación inmunológica, lo que influye en las decisiones sobre trasplante de células madre o de intestino.",
            "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/es/conditions/congenital-intestinal-atresia-and-short-bowel"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormal-ductus-choledochus-morphology",
        "name": "Abnormal ductus choledochus morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-ductus-choledochus-morphology"
      },
      {
        "slug": "alopecia-of-scalp",
        "name": "Absence of scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alopecia-of-scalp"
      },
      {
        "slug": "duodenal-atresia",
        "name": "Absence or narrowing of first part of small bowel",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/duodenal-atresia"
      },
      {
        "slug": "absent-eyebrow",
        "name": "Absent eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-eyebrow"
      },
      {
        "slug": "agammaglobulinemia",
        "name": "Agammaglobulinemia",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agammaglobulinemia"
      },
      {
        "slug": "autoimmune-hemolytic-anemia",
        "name": "Autoimmune hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "bloody-diarrhea",
        "name": "Bloody diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bloody-diarrhea"
      },
      {
        "slug": "colonic-atresia",
        "name": "Colonic atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/colonic-atresia"
      },
      {
        "slug": "congenital-pulmonary-airway-malformation",
        "name": "Congenital pulmonary airway malformation",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-pulmonary-airway-malformation"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "ectopic-calcification",
        "name": "Ectopic calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ectopic-calcification"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "enterocolitis",
        "name": "Enterocolitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enterocolitis"
      },
      {
        "slug": "gastrointestinal-atresia",
        "name": "Gastrointestinal atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gastrointestinal-atresia"
      },
      {
        "slug": "hashimoto-thyroiditis",
        "name": "Hashimoto thyroiditis",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hashimoto-thyroiditis"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "ileal-atresia",
        "name": "Ileal atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ileal-atresia"
      },
      {
        "slug": "impaired-phytohemagglutinin-induced-t-lymphocyte-transformation",
        "name": "Impaired phytohemagglutinin-induced T lymphocyte transformation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-phytohemagglutinin-induced-t-lymphocyte-transformation"
      },
      {
        "slug": "thrombocytosis",
        "name": "Increased number of platelets in blood",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytosis"
      },
      {
        "slug": "interface-hepatitis",
        "name": "Interface hepatitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/interface-hepatitis"
      },
      {
        "slug": "intestinal-atresia",
        "name": "Intestinal atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intestinal-atresia"
      },
      {
        "slug": "intestinal-malrotation",
        "name": "Intestinal malrotation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intestinal-malrotation"
      },
      {
        "slug": "intestinal-obstruction",
        "name": "Intestinal obstruction",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intestinal-obstruction"
      },
      {
        "slug": "jejunal-atresia",
        "name": "Jejunal atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/jejunal-atresia"
      },
      {
        "slug": "jejunoileal-ulceration",
        "name": "Jejunoileal ulceration",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jejunoileal-ulceration"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "omphalocele",
        "name": "Omphalocele",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/omphalocele"
      },
      {
        "slug": "peritoneal-abscess",
        "name": "Peritoneal abscess",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peritoneal-abscess"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "psoriasiform-dermatitis",
        "name": "Psoriasiform dermatitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psoriasiform-dermatitis"
      },
      {
        "slug": "rectal-abscess",
        "name": "Rectal abscess",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rectal-abscess"
      },
      {
        "slug": "rectal-atresia",
        "name": "Rectal atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rectal-atresia"
      },
      {
        "slug": "hematochezia",
        "name": "Rectal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hematochezia"
      },
      {
        "slug": "recurrent-abscess-formation",
        "name": "Recurrent abscess formation",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-abscess-formation"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "severe-combined-immunodeficiency",
        "name": "Severe combined immunodeficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-combined-immunodeficiency"
      },
      {
        "slug": "hypoplasia-of-the-thymus",
        "name": "Small thymus",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-thymus"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "t-cell-lymphoma",
        "name": "T-cell lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/t-cell-lymphoma"
      },
      {
        "slug": "thickened-skin",
        "name": "Thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thickened-skin"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}