{
  "url": "https://dantelabs.com/et/genes/armc5",
  "gene": {
    "slug": "armc5",
    "symbol": "ARMC5",
    "name": "armadillo repeat containing 5",
    "hgnc": "HGNC:25781",
    "summary": null,
    "location": "16p11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ13063"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000140691",
    "entrezId": 79798,
    "omim": [
      "615549"
    ],
    "uniprot": [
      "Q96C12"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 31459501,
      "end": 31467165,
      "strand": "+",
      "ensemblTranscript": "ENST00000268314.9",
      "refseqTranscript": "NM_001105247.2",
      "ensemblProtein": "ENSP00000268314.4",
      "refseqProtein": "NP_001098717.1",
      "exons": [
        {
          "start": 31459501,
          "end": 31459999
        },
        {
          "start": 31461922,
          "end": 31462029
        },
        {
          "start": 31462131,
          "end": 31462917
        },
        {
          "start": 31464394,
          "end": 31464887
        },
        {
          "start": 31465850,
          "end": 31465982
        },
        {
          "start": 31466079,
          "end": 31467165
        }
      ],
      "cds": {
        "start": 31459525,
        "end": 31466889
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 31469401,
      "end": 31478487,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 30963333,
      "end": 31963332,
      "genes": [
        {
          "symbol": "SETD1A",
          "ensemblId": "ENSG00000099381",
          "biotype": "protein_coding",
          "start": 30957294,
          "end": 30984664,
          "strand": "+",
          "slug": "setd1a"
        },
        {
          "symbol": "HSD3B7",
          "ensemblId": "ENSG00000099377",
          "biotype": "protein_coding",
          "start": 30985029,
          "end": 30989154,
          "strand": "+",
          "slug": "hsd3b7"
        },
        {
          "symbol": "STX1B",
          "ensemblId": "ENSG00000099365",
          "biotype": "protein_coding",
          "start": 30989256,
          "end": 31010897,
          "strand": "-",
          "slug": "stx1b"
        },
        {
          "symbol": "STX4",
          "ensemblId": "ENSG00000103496",
          "biotype": "protein_coding",
          "start": 31032889,
          "end": 31042975,
          "strand": "+",
          "slug": "stx4"
        },
        {
          "symbol": "ZNF668",
          "ensemblId": "ENSG00000167394",
          "biotype": "protein_coding",
          "start": 31059772,
          "end": 31074240,
          "strand": "-",
          "slug": "znf668"
        },
        {
          "symbol": "ZNF646",
          "ensemblId": "ENSG00000167395",
          "biotype": "protein_coding",
          "start": 31074394,
          "end": 31084196,
          "strand": "+",
          "slug": "znf646"
        },
        {
          "symbol": "PRSS53",
          "ensemblId": "ENSG00000151006",
          "biotype": "protein_coding",
          "start": 31083437,
          "end": 31089628,
          "strand": "-",
          "slug": "prss53"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000255439",
          "biotype": "protein_coding",
          "start": 31083439,
          "end": 31094956,
          "strand": "-"
        },
        {
          "symbol": "VKORC1",
          "ensemblId": "ENSG00000167397",
          "biotype": "protein_coding",
          "start": 31090260,
          "end": 31095980,
          "strand": "-",
          "slug": "vkorc1"
        },
        {
          "symbol": "BCKDK",
          "ensemblId": "ENSG00000103507",
          "biotype": "protein_coding",
          "start": 31106107,
          "end": 31113464,
          "strand": "+",
          "slug": "bckdk"
        },
        {
          "symbol": "KAT8",
          "ensemblId": "ENSG00000103510",
          "biotype": "protein_coding",
          "start": 31114489,
          "end": 31131396,
          "strand": "+",
          "slug": "kat8"
        },
        {
          "symbol": "PRSS8",
          "ensemblId": "ENSG00000052344",
          "biotype": "protein_coding",
          "start": 31131433,
          "end": 31135727,
          "strand": "-",
          "slug": "prss8"
        },
        {
          "symbol": "PRSS36",
          "ensemblId": "ENSG00000178226",
          "biotype": "protein_coding",
          "start": 31138926,
          "end": 31150213,
          "strand": "-",
          "slug": "prss36"
        },
        {
          "symbol": "FUS",
          "ensemblId": "ENSG00000089280",
          "biotype": "protein_coding",
          "start": 31180131,
          "end": 31196963,
          "strand": "+",
          "slug": "fus"
        },
        {
          "symbol": "PYCARD",
          "ensemblId": "ENSG00000103490",
          "biotype": "protein_coding",
          "start": 31201486,
          "end": 31203450,
          "strand": "-",
          "slug": "pycard"
        },
        {
          "symbol": "TRIM72",
          "ensemblId": "ENSG00000177238",
          "biotype": "protein_coding",
          "start": 31214017,
          "end": 31231537,
          "strand": "+",
          "slug": "trim72"
        },
        {
          "symbol": "PYDC1",
          "ensemblId": "ENSG00000169900",
          "biotype": "protein_coding",
          "start": 31215962,
          "end": 31217162,
          "strand": "-",
          "slug": "pydc1"
        },
        {
          "symbol": "ITGAM",
          "ensemblId": "ENSG00000169896",
          "biotype": "protein_coding",
          "start": 31259954,
          "end": 31332892,
          "strand": "+",
          "slug": "itgam"
        },
        {
          "symbol": "ITGAX",
          "ensemblId": "ENSG00000140678",
          "biotype": "protein_coding",
          "start": 31355134,
          "end": 31382999,
          "strand": "+",
          "slug": "itgax"
        },
        {
          "symbol": "ITGAD",
          "ensemblId": "ENSG00000156886",
          "biotype": "protein_coding",
          "start": 31393258,
          "end": 31426505,
          "strand": "+",
          "slug": "itgad"
        },
        {
          "symbol": "COX6A2",
          "ensemblId": "ENSG00000156885",
          "biotype": "protein_coding",
          "start": 31427731,
          "end": 31428433,
          "strand": "-",
          "slug": "cox6a2"
        },
        {
          "symbol": "ZNF843",
          "ensemblId": "ENSG00000176723",
          "biotype": "protein_coding",
          "start": 31432593,
          "end": 31444323,
          "strand": "-",
          "slug": "znf843"
        },
        {
          "symbol": "TGFB1I1",
          "ensemblId": "ENSG00000140682",
          "biotype": "protein_coding",
          "start": 31471585,
          "end": 31478727,
          "strand": "+",
          "slug": "tgfb1i1"
        },
        {
          "symbol": "SLC5A2",
          "ensemblId": "ENSG00000140675",
          "biotype": "protein_coding",
          "start": 31483002,
          "end": 31490860,
          "strand": "+",
          "slug": "slc5a2"
        },
        {
          "symbol": "RUSF1",
          "ensemblId": "ENSG00000140688",
          "biotype": "protein_coding",
          "start": 31489465,
          "end": 31509309,
          "strand": "-",
          "slug": "rusf1"
        },
        {
          "symbol": "AHSP",
          "ensemblId": "ENSG00000169877",
          "biotype": "protein_coding",
          "start": 31512938,
          "end": 31528808,
          "strand": "+",
          "slug": "ahsp"
        },
        {
          "symbol": "KRABD5",
          "ensemblId": "ENSG00000197302",
          "biotype": "protein_coding",
          "start": 31713227,
          "end": 31794890,
          "strand": "+",
          "slug": "krabd5"
        },
        {
          "symbol": "ZNF267",
          "ensemblId": "ENSG00000185947",
          "biotype": "protein_coding",
          "start": 31873783,
          "end": 31918055,
          "strand": "+",
          "slug": "znf267"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "carney-complex-hereditary-adrenal-cushing-syndrome",
        "name": "Carney-kompleks ja pärilik neerupealise Cushingi sündroom",
        "diseases": [
          {
            "mondoId": "MONDO:0014416",
            "name": "ARMC5-ga seotud primaarne kahepoolne makronodulaarne neerupealise hüperplaasia",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Mõlema neerupealise suurenemine mitme sõlmega, mis täiskasvanueas võivad aeglaselt toota liigset kortisooli.",
            "management": "Võimaldab kandjatel ja nende sugulastel teha kortisooli liigtootmise biokeemilist sõeluuringut.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/carney-complex-hereditary-adrenal-cushing-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-obesity",
        "name": "Abdominal obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-obesity"
      },
      {
        "slug": "abnormal-libido",
        "name": "Abnormal libido",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-libido"
      },
      {
        "slug": "abnormal-response-to-corticotropin-releasing-hormone-stimulation-test",
        "name": "Abnormal response to corticotropin releasing hormone stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-response-to-corticotropin-releasing-hormone-stimulation-test"
      },
      {
        "slug": "acne",
        "name": "Acne",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acne"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "dorsocervical-fat-pad",
        "name": "Buffalo hump",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dorsocervical-fat-pad"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "renal-cell-carcinoma",
        "name": "Cancer starting in small tubes in kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/renal-cell-carcinoma"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "decreased-circulating-acth-concentration",
        "name": "Decreased circulating ACTH concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-acth-concentration"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "increased-circulating-aldosterone-concentration",
        "name": "Elevated plasma aldosterone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration"
      },
      {
        "slug": "hirsutism",
        "name": "Excessive hairiness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hirsutism"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "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": "glucose-intolerance",
        "name": "Glucose intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glucose-intolerance"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "slug": "increased-urinary-cortisol-level",
        "name": "High urine cortisol level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-urinary-cortisol-level"
      },
      {
        "slug": "increased-body-weight",
        "name": "Increased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-body-weight"
      },
      {
        "slug": "increased-circulating-cortisol-level",
        "name": "Increased circulating cortisol level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-cortisol-level"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "macronodular-adrenal-hyperplasia",
        "name": "Macronodular adrenal hyperplasia",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macronodular-adrenal-hyperplasia"
      },
      {
        "slug": "mania",
        "name": "Manic",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mania"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "irregular-menstruation",
        "name": "Menstrual irregularity",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irregular-menstruation"
      },
      {
        "slug": "moon-facies",
        "name": "Moon face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/moon-facies"
      },
      {
        "slug": "neuroendocrine-neoplasm",
        "name": "Neuroendocrine neoplasm",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neuroendocrine-neoplasm"
      },
      {
        "slug": "meningioma",
        "name": "Noncancerous growth of membranes covering brain",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/meningioma"
      },
      {
        "slug": "pituitary-adenoma",
        "name": "Noncancerous tumor in pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pituitary-adenoma"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "paradoxical-increased-cortisol-secretion-on-dexamethasone-suppression-test",
        "name": "Paradoxical increased cortisol secretion on dexamethasone suppression test",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paradoxical-increased-cortisol-secretion-on-dexamethasone-suppression-test"
      },
      {
        "slug": "plethora",
        "name": "Plethora",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/plethora"
      },
      {
        "slug": "primary-hyperparathyroidism",
        "name": "Primary hyperparathyroidism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/primary-hyperparathyroidism"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "psychotic-episodes",
        "name": "Psychotic episodes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psychotic-episodes"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "striae-distensae",
        "name": "Stretch marks",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/striae-distensae"
      },
      {
        "slug": "proximal-amyotrophy",
        "name": "Wasting of muscles near the body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-amyotrophy"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.18-e609d43e",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}