{
  "url": "https://dantelabs.com/de/genes/mamld1",
  "gene": {
    "slug": "mamld1",
    "symbol": "MAMLD1",
    "name": "mastermind like domain containing 1",
    "hgnc": "HGNC:2568",
    "summary": null,
    "location": "Xq28",
    "locusType": "gene with protein product",
    "aliases": [
      "CG1",
      "F18"
    ],
    "previousSymbols": [
      "CXorf6"
    ],
    "ensemblId": "ENSG00000013619",
    "entrezId": 10046,
    "omim": [
      "300120"
    ],
    "uniprot": [
      "Q13495"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 150363317,
      "end": 150514173,
      "strand": "+",
      "ensemblTranscript": "ENST00000370401.7",
      "refseqTranscript": "NM_005491.5",
      "ensemblProtein": "ENSP00000359428.2",
      "refseqProtein": "NP_005482.2",
      "exons": [
        {
          "start": 150363317,
          "end": 150363530
        },
        {
          "start": 150445454,
          "end": 150445612
        },
        {
          "start": 150462772,
          "end": 150462846
        },
        {
          "start": 150469745,
          "end": 150471490
        },
        {
          "start": 150473680,
          "end": 150473802
        },
        {
          "start": 150503274,
          "end": 150503517
        },
        {
          "start": 150509962,
          "end": 150510046
        },
        {
          "start": 150512004,
          "end": 150514173
        }
      ],
      "cds": {
        "start": 150445517,
        "end": 150510002
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 149529689,
      "end": 149682448,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 149938745,
      "end": 150938744,
      "genes": [
        {
          "symbol": "EOLA2",
          "ensemblId": "ENSG00000197021",
          "biotype": "protein_coding",
          "start": 149921940,
          "end": 149938881,
          "strand": "-",
          "slug": "eola2"
        },
        {
          "symbol": "MTM1",
          "ensemblId": "ENSG00000171100",
          "biotype": "protein_coding",
          "start": 150547904,
          "end": 150673322,
          "strand": "+",
          "slug": "mtm1"
        },
        {
          "symbol": "MTMR1",
          "ensemblId": "ENSG00000063601",
          "biotype": "protein_coding",
          "start": 150692971,
          "end": 150765165,
          "strand": "+",
          "slug": "mtmr1"
        },
        {
          "symbol": "CD99L2",
          "ensemblId": "ENSG00000102181",
          "biotype": "protein_coding",
          "start": 150766335,
          "end": 150898816,
          "strand": "-",
          "slug": "cd99l2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-hypospadias",
        "name": "Erbliche Hypospadie",
        "diseases": [
          {
            "mondoId": "MONDO:0010423",
            "name": "Hypospadie 2, X-chromosomal (MAMLD1)",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "Eine X-chromosomal vererbte Form der Hypospadie, die durch Varianten in MAMLD1 verursacht wird.",
            "management": "Die Klärung der Ursache zeigt das Wiederholungsrisiko für künftige Kinder auf.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/hereditary-hypospadias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-endocrine-system",
        "name": "Abnormality of the endocrine system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-endocrine-system"
      },
      {
        "slug": "anal-atresia",
        "name": "Absent anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anal-atresia"
      },
      {
        "slug": "androgen-insufficiency",
        "name": "Androgen insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/androgen-insufficiency"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "esophageal-atresia",
        "name": "Birth defect in which part of esophagus did not develop",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-atresia"
      },
      {
        "slug": "blind-vagina",
        "name": "Blind vagina",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blind-vagina"
      },
      {
        "slug": "bifid-scrotum",
        "name": "Cleft of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bifid-scrotum"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "congenital-diaphragmatic-hernia",
        "name": "Congenital diaphragmatic hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "displacement-of-the-urethral-meatus",
        "name": "Displacement of the urethral meatus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/displacement-of-the-urethral-meatus"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "glanular-hypospadias",
        "name": "Glanular hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glanular-hypospadias"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "omphalocele",
        "name": "Omphalocele",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/omphalocele"
      },
      {
        "slug": "penile-hypospadias",
        "name": "Penile hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/penile-hypospadias"
      },
      {
        "slug": "penoscrotal-hypospadias",
        "name": "Penoscrotal hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/penoscrotal-hypospadias"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "thin-ribs",
        "name": "Thin ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-ribs"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "urethral-diverticulum",
        "name": "Urethral diverticulum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/urethral-diverticulum"
      },
      {
        "slug": "ventral-shortening-of-foreskin",
        "name": "Ventral shortening of foreskin",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventral-shortening-of-foreskin"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}