{
  "url": "https://dantelabs.com/sv/genes/spred1",
  "gene": {
    "slug": "spred1",
    "symbol": "SPRED1",
    "name": "sprouty related EVH1 domain containing 1",
    "hgnc": "HGNC:20249",
    "summary": null,
    "location": "15q14",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ33903",
      "PPP1R147",
      "SPRED-1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000166068",
    "entrezId": 161742,
    "omim": [
      "609291"
    ],
    "uniprot": [
      "Q7Z699"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 38252836,
      "end": 38357249,
      "strand": "+",
      "ensemblTranscript": "ENST00000299084.9",
      "refseqTranscript": "NM_152594.3",
      "ensemblProtein": "ENSP00000299084.4",
      "refseqProtein": "NP_689807.1",
      "exons": [
        {
          "start": 38252836,
          "end": 38253217
        },
        {
          "start": 38299373,
          "end": 38299547
        },
        {
          "start": 38322241,
          "end": 38322409
        },
        {
          "start": 38324763,
          "end": 38324809
        },
        {
          "start": 38339737,
          "end": 38339895
        },
        {
          "start": 38349422,
          "end": 38349523
        },
        {
          "start": 38351014,
          "end": 38357249
        }
      ],
      "cds": {
        "start": 38253186,
        "end": 38351664
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 38544527,
      "end": 38649450,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 37805043,
      "end": 38805042,
      "genes": [
        {
          "symbol": "TMCO5A",
          "ensemblId": "ENSG00000166069",
          "biotype": "protein_coding",
          "start": 37921858,
          "end": 37967724,
          "strand": "+",
          "slug": "tmco5a"
        },
        {
          "symbol": "TSLIG3B",
          "ensemblId": "ENSG00000171262",
          "biotype": "protein_coding",
          "start": 38454107,
          "end": 38487710,
          "strand": "+",
          "slug": "tslig3b"
        },
        {
          "symbol": "RASGRP1",
          "ensemblId": "ENSG00000172575",
          "biotype": "protein_coding",
          "start": 38488103,
          "end": 38565575,
          "strand": "-",
          "slug": "rasgrp1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "noonan-syndrome",
        "name": "Noonansyndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0020297",
            "name": "Noonans syndrom och Noonan-liknande syndrom",
            "genes": 21,
            "inheritance": null,
            "description": "En grupp sjukdomar med RAS-signalvägen, inklusive Noonans, Costellos, kardiofaciokutan och Legius syndrom, med varierande hjärtfel, kort växt och karakteristiska ansiktsdrag.",
            "management": "Kunskap om detta stöder bedömning av hjärta, tillväxt och utveckling.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/noonan-syndrome"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Hypertrofisk kardiomyopati",
        "diseases": [
          {
            "mondoId": "MONDO:0005045",
            "name": "Hypertrofisk kardiomyopati",
            "genes": 62,
            "inheritance": "autosomal-dominant",
            "description": "Ett tillstånd där hjärtmuskeln är förtjockad utan någon uppenbar orsak. Förtjockningen är i regel asymmetrisk och kan vara förknippad med obstruktion av utflödesbanan från kammaren.",
            "management": "Betablockerare, icke-dihydropyridin-kalciumkanalblockerare, begränsning av fysisk aktivitet, genetisk rådgivning",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/hypertrophic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-sternum-morphology",
        "name": "Abnormality of the sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-sternum-morphology"
      },
      {
        "slug": "acute-monocytic-leukemia",
        "name": "Acute monocytic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/acute-monocytic-leukemia"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "axillary-freckling",
        "name": "Axillary freckling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axillary-freckling"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "cafe-au-lait-spot",
        "name": "Birthmark",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cafe-au-lait-spot"
      },
      {
        "slug": "brain-imaging-abnormality",
        "name": "Brain imaging abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/brain-imaging-abnormality"
      },
      {
        "slug": "chiari-type-i-malformation",
        "name": "Chiari type I malformation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chiari-type-i-malformation"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "diaphyseal-dysplasia",
        "name": "Diaphyseal dysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/diaphyseal-dysplasia"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "xanthelasma",
        "name": "Fatty deposits in skin around the eyes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/xanthelasma"
      },
      {
        "slug": "inguinal-freckling",
        "name": "Freckles in groin region",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inguinal-freckling"
      },
      {
        "slug": "freckling",
        "name": "Freckling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/freckling"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "gastrointestinal-desmoid-tumor",
        "name": "Gastrointestinal desmoid tumor",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gastrointestinal-desmoid-tumor"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "high-narrow-palate",
        "name": "High, narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-narrow-palate"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "lisch-nodules",
        "name": "Lisch nodules",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/lisch-nodules"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "low-posterior-hairline",
        "name": "Low hairline at back of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/low-posterior-hairline"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "male-urethral-meatus-stenosis",
        "name": "Male urethral meatus stenosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/male-urethral-meatus-stenosis"
      },
      {
        "slug": "mitral-valve-prolapse",
        "name": "Mitral valve prolapse",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/mitral-valve-prolapse"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "polydactyly",
        "name": "More than five fingers or toes on hands or feet",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/polydactyly"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "multiple-cafe-au-lait-spots",
        "name": "Multiple birthmarks",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multiple-cafe-au-lait-spots"
      },
      {
        "slug": "multiple-lipomas",
        "name": "Multiple fatty lumps",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-lipomas"
      },
      {
        "slug": "pulmonic-stenosis",
        "name": "Narrowing of pulmonic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonic-stenosis"
      },
      {
        "slug": "nephroblastoma",
        "name": "Nephroblastoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nephroblastoma"
      },
      {
        "slug": "neurofibroma",
        "name": "Neurofibroma",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/neurofibroma"
      },
      {
        "slug": "non-small-cell-lung-carcinoma",
        "name": "Non-small cell lung carcinoma",
        "systems": [
          "abnormality-of-the-respiratory-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/non-small-cell-lung-carcinoma"
      },
      {
        "slug": "optic-nerve-glioma",
        "name": "Optic nerve glioma",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/optic-nerve-glioma"
      },
      {
        "slug": "ovarian-neoplasm",
        "name": "Ovarian cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ovarian-neoplasm"
      },
      {
        "slug": "paroxysmal-atrial-tachycardia",
        "name": "Paroxysmal atrial tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/paroxysmal-atrial-tachycardia"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-attention-span",
        "name": "Short attention span",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-attention-span"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "supravalvar-pulmonary-stenosis",
        "name": "Supravalvar pulmonary stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/supravalvar-pulmonary-stenosis"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "neoplasm-of-the-central-nervous-system",
        "name": "Tumors of the central nervous system",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/neoplasm-of-the-central-nervous-system"
      },
      {
        "slug": "vestibular-schwannoma",
        "name": "Vestibular schwannoma",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/vestibular-schwannoma"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "braf",
        "symbol": "BRAF",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/braf"
      },
      {
        "slug": "erf",
        "symbol": "ERF",
        "name": "ETS2 repressor factor",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/erf"
      },
      {
        "slug": "hras",
        "symbol": "HRAS",
        "name": "HRas proto-oncogene, GTPase",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/hras"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "name": "KRas proto-oncogene, GTPase",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/kras"
      },
      {
        "slug": "lztr1",
        "symbol": "LZTR1",
        "name": "leucine zipper like post translational regulator 1",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/lztr1"
      },
      {
        "slug": "map2k1",
        "symbol": "MAP2K1",
        "name": "mitogen-activated protein kinase kinase 1",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/map2k1"
      },
      {
        "slug": "map2k2",
        "symbol": "MAP2K2",
        "name": "mitogen-activated protein kinase kinase 2",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/map2k2"
      },
      {
        "slug": "mapk1",
        "symbol": "MAPK1",
        "name": "mitogen-activated protein kinase 1",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/mapk1"
      },
      {
        "slug": "mras",
        "symbol": "MRAS",
        "name": "muscle RAS oncogene homolog",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/mras"
      },
      {
        "slug": "nras",
        "symbol": "NRAS",
        "name": "NRAS proto-oncogene, GTPase",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/nras"
      },
      {
        "slug": "ppp1cb",
        "symbol": "PPP1CB",
        "name": "protein phosphatase 1 catalytic subunit beta",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/ppp1cb"
      },
      {
        "slug": "ptpn11",
        "symbol": "PTPN11",
        "name": "protein tyrosine phosphatase non-receptor type 11",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/ptpn11"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}