{
  "url": "https://dantelabs.com/genes/ppp1r13l",
  "gene": {
    "slug": "ppp1r13l",
    "symbol": "PPP1R13L",
    "name": "protein phosphatase 1 regulatory subunit 13 like",
    "hgnc": "HGNC:18838",
    "summary": null,
    "location": "19q13.32",
    "locusType": "gene with protein product",
    "aliases": [
      "RAI",
      "IASPP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000104881",
    "entrezId": 10848,
    "omim": [
      "607463"
    ],
    "uniprot": [
      "Q8WUF5"
    ],
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      "release": "v1.5",
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      "strand": "-",
      "ensemblTranscript": "ENST00000360957.10",
      "refseqTranscript": "NM_006663.4",
      "ensemblProtein": "ENSP00000354218.4",
      "refseqProtein": "NP_006654.2",
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      ],
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    },
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      "build": "GRCh37",
      "release": "87",
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          "symbol": "TOMM40",
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        {
          "symbol": "APOE",
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        {
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        {
          "symbol": "APOC4-APOC2",
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        {
          "symbol": "RELB",
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        {
          "symbol": "CLASRP",
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        {
          "symbol": "ZNF296",
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        {
          "symbol": "GEMIN7",
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        {
          "symbol": "MARK4",
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        {
          "symbol": "PPP1R37",
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        {
          "symbol": "NKPD1",
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        {
          "symbol": "BLOC1S3",
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        {
          "symbol": "TRAPPC6A",
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          "symbol": "EXOC3L2",
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        {
          "symbol": "CKM",
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        {
          "symbol": "KLC3",
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        {
          "symbol": "ERCC2",
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        {
          "symbol": "POLR1G",
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        {
          "symbol": "ERCC1",
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        {
          "symbol": "FOSB",
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        {
          "symbol": "RTN2",
          "ensemblId": "ENSG00000125744",
          "biotype": "protein_coding",
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          "strand": "-",
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        {
          "symbol": "PPM1N",
          "ensemblId": "ENSG00000213889",
          "biotype": "protein_coding",
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          "slug": "ppm1n"
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        {
          "symbol": "VASP",
          "ensemblId": "ENSG00000125753",
          "biotype": "protein_coding",
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        {
          "symbol": "OPA3",
          "ensemblId": "ENSG00000125741",
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          "slug": "opa3"
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        {
          "symbol": "GPR4",
          "ensemblId": "ENSG00000177464",
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        {
          "symbol": "EML2",
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        {
          "symbol": "GIPR",
          "ensemblId": "ENSG00000010310",
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          "strand": "+",
          "slug": "gipr"
        },
        {
          "symbol": "SNRPD2",
          "ensemblId": "ENSG00000125743",
          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "QPCTL",
          "ensemblId": "ENSG00000011478",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "qpctl"
        },
        {
          "symbol": "FBXO46",
          "ensemblId": "ENSG00000177051",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "MEIOSIN",
          "ensemblId": "ENSG00000237452",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "meiosin"
        },
        {
          "symbol": "SIX5",
          "ensemblId": "ENSG00000177045",
          "biotype": "protein_coding",
          "start": 45764767,
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          "strand": "-",
          "slug": "six5"
        },
        {
          "symbol": "DMPK",
          "ensemblId": "ENSG00000104936",
          "biotype": "protein_coding",
          "start": 45769709,
          "end": 45782794,
          "strand": "-",
          "slug": "dmpk"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000268434",
          "biotype": "protein_coding",
          "start": 45779437,
          "end": 45785973,
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        },
        {
          "symbol": "DMWD",
          "ensemblId": "ENSG00000185800",
          "biotype": "protein_coding",
          "start": 45782944,
          "end": 45792949,
          "strand": "-",
          "slug": "dmwd"
        },
        {
          "symbol": "RSPH6A",
          "ensemblId": "ENSG00000104941",
          "biotype": "protein_coding",
          "start": 45795713,
          "end": 45815308,
          "strand": "-",
          "slug": "rsph6a"
        },
        {
          "symbol": "SYMPK",
          "ensemblId": "ENSG00000125755",
          "biotype": "protein_coding",
          "start": 45815410,
          "end": 45866862,
          "strand": "-",
          "slug": "sympk"
        },
        {
          "symbol": "FOXA3",
          "ensemblId": "ENSG00000170608",
          "biotype": "protein_coding",
          "start": 45863989,
          "end": 45873798,
          "strand": "+",
          "slug": "foxa3"
        },
        {
          "symbol": "IRF2BP1",
          "ensemblId": "ENSG00000170604",
          "biotype": "protein_coding",
          "start": 45883608,
          "end": 45886141,
          "strand": "-",
          "slug": "irf2bp1"
        },
        {
          "symbol": "MYPOP",
          "ensemblId": "ENSG00000176182",
          "biotype": "protein_coding",
          "start": 45890020,
          "end": 45902808,
          "strand": "-",
          "slug": "mypop"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "arrhythmogenic-cardiomyopathy",
        "name": "Arrhythmogenic Cardiomyopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0957795",
            "name": "Arrhythmogenic Cardiomyopathy with Variable Ectodermal Abnormalities",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "A condition caused by changes in PPP1R13L that combines arrhythmogenic cardiomyopathy with variable hair, skin and tooth differences.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/arrhythmogenic-cardiomyopathy"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Dilated Cardiomyopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0005021",
            "name": "Dilated Cardiomyopathy",
            "genes": 50,
            "inheritance": null,
            "description": "Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.",
            "management": "Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.",
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/dilated-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "woolly-scalp-hair",
        "name": "Afro-textured scalp hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/woolly-scalp-hair"
      },
      {
        "slug": "bicuspid-aortic-valve",
        "name": "Aortic valve has two leaflets rather than three",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bicuspid-aortic-valve"
      },
      {
        "slug": "cleft-lip",
        "name": "Cleft lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-lip"
      },
      {
        "slug": "coarse-hair",
        "name": "Coarse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coarse-hair"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "onycholysis",
        "name": "Detachment of nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/onycholysis"
      },
      {
        "slug": "dry-hair",
        "name": "Dry hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dry-hair"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "pericardial-effusion",
        "name": "Fluid around heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pericardial-effusion"
      },
      {
        "slug": "high-anterior-hairline",
        "name": "High frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-anterior-hairline"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "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": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "left-ventricular-systolic-dysfunction",
        "name": "Left ventricular systolic dysfunction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "myocardial-fibrosis",
        "name": "Myocardial fibrosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myocardial-fibrosis"
      },
      {
        "slug": "myofiber-disarray",
        "name": "Myofiber disarray",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myofiber-disarray"
      },
      {
        "slug": "notched-primary-central-incisor",
        "name": "Notched front baby tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/notched-primary-central-incisor"
      },
      {
        "slug": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "right-atrial-enlargement",
        "name": "Right atrial enlargement",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/right-atrial-enlargement"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "tricuspid-regurgitation",
        "name": "Tricuspid regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      },
      {
        "slug": "ventricular-bigeminy",
        "name": "Ventricular bigeminy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-bigeminy"
      },
      {
        "slug": "ventricular-tachycardia",
        "name": "Ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-tachycardia"
      }
    ],
    "related": [
      {
        "slug": "abcc9",
        "symbol": "ABCC9",
        "name": "ATP binding cassette subfamily C member 9",
        "shared": 1,
        "url": "https://dantelabs.com/genes/abcc9"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/actc1"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "name": "BAG cochaperone 3",
        "shared": 1,
        "url": "https://dantelabs.com/genes/bag3"
      },
      {
        "slug": "bag5",
        "symbol": "BAG5",
        "name": "BAG cochaperone 5",
        "shared": 1,
        "url": "https://dantelabs.com/genes/bag5"
      },
      {
        "slug": "des",
        "symbol": "DES",
        "name": "desmin",
        "shared": 1,
        "url": "https://dantelabs.com/genes/des"
      },
      {
        "slug": "dmd",
        "symbol": "DMD",
        "name": "dystrophin",
        "shared": 1,
        "url": "https://dantelabs.com/genes/dmd"
      },
      {
        "slug": "dolk",
        "symbol": "DOLK",
        "name": "dolichol kinase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/dolk"
      },
      {
        "slug": "emd",
        "symbol": "EMD",
        "name": "emerin",
        "shared": 1,
        "url": "https://dantelabs.com/genes/emd"
      },
      {
        "slug": "fhl1",
        "symbol": "FHL1",
        "name": "four and a half LIM domains 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/fhl1"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 1,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "flii",
        "symbol": "FLII",
        "name": "FLII actin remodeling protein",
        "shared": 1,
        "url": "https://dantelabs.com/genes/flii"
      },
      {
        "slug": "flnc",
        "symbol": "FLNC",
        "name": "filamin C",
        "shared": 1,
        "url": "https://dantelabs.com/genes/flnc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}