{
  "url": "https://dantelabs.com/pt/genes/tspyl1",
  "gene": {
    "slug": "tspyl1",
    "symbol": "TSPYL1",
    "name": "TSPY like 1",
    "hgnc": "HGNC:12382",
    "summary": null,
    "location": "6q22.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "TSPYL"
    ],
    "ensemblId": "ENSG00000189241",
    "entrezId": 7259,
    "omim": [
      "604714"
    ],
    "uniprot": [
      "Q9H0U9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 116274858,
      "end": 116279930,
      "strand": "-",
      "ensemblTranscript": "ENST00000368608.4",
      "refseqTranscript": "NM_003309.4",
      "ensemblProtein": "ENSP00000357597.4",
      "refseqProtein": "NP_003300.1",
      "exons": [
        {
          "start": 116274858,
          "end": 116279930
        }
      ],
      "cds": {
        "start": 116278517,
        "end": 116279830
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 116597741,
      "end": 116601066,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 115777394,
      "end": 116777393,
      "genes": [
        {
          "symbol": "FRK",
          "ensemblId": "ENSG00000111816",
          "biotype": "protein_coding",
          "start": 115931149,
          "end": 116061093,
          "strand": "-",
          "slug": "frk"
        },
        {
          "symbol": "NT5DC1",
          "ensemblId": "ENSG00000178425",
          "biotype": "protein_coding",
          "start": 116100804,
          "end": 116249497,
          "strand": "+",
          "slug": "nt5dc1"
        },
        {
          "symbol": "COL10A1",
          "ensemblId": "ENSG00000123500",
          "biotype": "protein_coding",
          "start": 116118909,
          "end": 116158747,
          "strand": "-",
          "slug": "col10a1"
        },
        {
          "symbol": "TSPYL4",
          "ensemblId": "ENSG00000187189",
          "biotype": "protein_coding",
          "start": 116249964,
          "end": 116254075,
          "strand": "-",
          "slug": "tspyl4"
        },
        {
          "symbol": "DSE",
          "ensemblId": "ENSG00000111817",
          "biotype": "protein_coding",
          "start": 116253604,
          "end": 116444861,
          "strand": "+",
          "slug": "dse"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285446",
          "biotype": "protein_coding",
          "start": 116399395,
          "end": 116463696,
          "strand": "+"
        },
        {
          "symbol": "CALHM6",
          "ensemblId": "ENSG00000188820",
          "biotype": "protein_coding",
          "start": 116461365,
          "end": 116466082,
          "strand": "+",
          "slug": "calhm6"
        },
        {
          "symbol": "TRAPPC3L",
          "ensemblId": "ENSG00000173626",
          "biotype": "protein_coding",
          "start": 116494989,
          "end": 116545684,
          "strand": "-",
          "slug": "trappc3l"
        },
        {
          "symbol": "CALHM5",
          "ensemblId": "ENSG00000178033",
          "biotype": "protein_coding",
          "start": 116511604,
          "end": 116524788,
          "strand": "+",
          "slug": "calhm5"
        },
        {
          "symbol": "CALHM4",
          "ensemblId": "ENSG00000164451",
          "biotype": "protein_coding",
          "start": 116529013,
          "end": 116561127,
          "strand": "+",
          "slug": "calhm4"
        },
        {
          "symbol": "RWDD1",
          "ensemblId": "ENSG00000111832",
          "biotype": "protein_coding",
          "start": 116571386,
          "end": 116598204,
          "strand": "+",
          "slug": "rwdd1"
        },
        {
          "symbol": "RSPH4A",
          "ensemblId": "ENSG00000111834",
          "biotype": "protein_coding",
          "start": 116616474,
          "end": 116634765,
          "strand": "+",
          "slug": "rsph4a"
        },
        {
          "symbol": "ZUP1",
          "ensemblId": "ENSG00000153975",
          "biotype": "protein_coding",
          "start": 116635616,
          "end": 116668816,
          "strand": "-",
          "slug": "zup1"
        },
        {
          "symbol": "KPNA5",
          "ensemblId": "ENSG00000196911",
          "biotype": "protein_coding",
          "start": 116681149,
          "end": 116741867,
          "strand": "+",
          "slug": "kpna5"
        },
        {
          "symbol": "FAM162B",
          "ensemblId": "ENSG00000183807",
          "biotype": "protein_coding",
          "start": 116724567,
          "end": 116765833,
          "strand": "-",
          "slug": "fam162b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "46-xy-differences-of-sex-development",
        "name": "Diferenças do Desenvolvimento Sexual 46,XY e Disgenesia Gonadal",
        "diseases": [
          {
            "mondoId": "MONDO:0020040",
            "name": "Diferenças do desenvolvimento sexual 46,XY",
            "genes": 14,
            "inheritance": null,
            "description": "Doenças em pessoas com cromossomas XY em que o desenvolvimento gonadal ou genital é atípico, causadas por variantes em genes como SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 e LHCGR.",
            "management": "O diagnóstico orienta o tratamento hormonal, o aconselhamento sobre fertilidade e, quando as gónadas disgenéticas contêm material do cromossoma Y, a avaliação do risco de tumores gonadais.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/46-xy-differences-of-sex-development"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-autonomic-nervous-system-physiology",
        "name": "Abnormal autonomic nervous system physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-pattern-of-respiration",
        "name": "Abnormal pattern of respiration",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pattern-of-respiration"
      },
      {
        "slug": "abnormality-of-the-voice",
        "name": "Abnormality of the voice",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-voice"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "ambiguous-genitalia-male",
        "name": "Ambiguous genitalia in males",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ambiguous-genitalia-male"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "bronchoconstriction",
        "name": "Bronchoconstriction",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/bronchoconstriction"
      },
      {
        "slug": "cardiorespiratory-arrest",
        "name": "Cardiorespiratory arrest",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/cardiorespiratory-arrest"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "dysplastic-testis",
        "name": "Dysplastic testis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/dysplastic-testis"
      },
      {
        "slug": "exaggerated-startle-response",
        "name": "Exaggerated startle response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exaggerated-startle-response"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "hypothermia",
        "name": "Hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypothermia"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "laryngospasm",
        "name": "Laryngospasm",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/laryngospasm"
      },
      {
        "slug": "stridor",
        "name": "Noisy breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/stridor"
      },
      {
        "slug": "partial-development-of-the-penile-shaft",
        "name": "Partial development of the penile shaft",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/partial-development-of-the-penile-shaft"
      },
      {
        "slug": "sleep-apnea",
        "name": "Pauses in breathing while sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sleep-apnea"
      },
      {
        "slug": "sertoli-cell-hypoplasia",
        "name": "Sertoli cell hypoplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/sertoli-cell-hypoplasia"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "small-scrotum",
        "name": "Smaller than typical growth of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/small-scrotum"
      },
      {
        "slug": "staccato-cry",
        "name": "Staccato cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/staccato-cry"
      },
      {
        "slug": "sudden-death",
        "name": "Sudden death",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/sudden-death"
      },
      {
        "slug": "tongue-fasciculations",
        "name": "Tongue twitching",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tongue-fasciculations"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      }
    ],
    "related": [
      {
        "slug": "ar",
        "symbol": "AR",
        "name": "androgen receptor",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/ar"
      },
      {
        "slug": "atrx",
        "symbol": "ATRX",
        "name": "ATRX chromatin remodeler",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/atrx"
      },
      {
        "slug": "cyp11a1",
        "symbol": "CYP11A1",
        "name": "cytochrome P450 family 11 subfamily A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/cyp11a1"
      },
      {
        "slug": "dhh",
        "symbol": "DHH",
        "name": "desert hedgehog signaling molecule",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/dhh"
      },
      {
        "slug": "dmrt1",
        "symbol": "DMRT1",
        "name": "doublesex and mab-3 related transcription factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/dmrt1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/gata4"
      },
      {
        "slug": "hhat",
        "symbol": "HHAT",
        "name": "hedgehog acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/hhat"
      },
      {
        "slug": "hsd17b3",
        "symbol": "HSD17B3",
        "name": "hydroxysteroid 17-beta dehydrogenase 3",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/hsd17b3"
      },
      {
        "slug": "map3k1",
        "symbol": "MAP3K1",
        "name": "mitogen-activated protein kinase kinase kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/map3k1"
      },
      {
        "slug": "nr5a1",
        "symbol": "NR5A1",
        "name": "nuclear receptor subfamily 5 group A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/nr5a1"
      },
      {
        "slug": "srd5a2",
        "symbol": "SRD5A2",
        "name": "steroid 5 alpha-reductase 2",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/srd5a2"
      },
      {
        "slug": "wt1",
        "symbol": "WT1",
        "name": "WT1 transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/wt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}