{
  "url": "https://dantelabs.com/de/genes/plcb4",
  "gene": {
    "slug": "plcb4",
    "symbol": "PLCB4",
    "name": "phospholipase C beta 4",
    "hgnc": "HGNC:9059",
    "summary": null,
    "location": "20p12.3-p12.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000101333",
    "entrezId": 5332,
    "omim": [
      "600810"
    ],
    "uniprot": [
      "Q15147"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 9069087,
      "end": 9480808,
      "strand": "+",
      "ensemblTranscript": "ENST00000378473.9",
      "refseqTranscript": "NM_001377142.1",
      "ensemblProtein": "ENSP00000367734.5",
      "refseqProtein": "NP_001364071.1",
      "exons": [
        {
          "start": 9069087,
          "end": 9069206
        },
        {
          "start": 9096287,
          "end": 9096342
        },
        {
          "start": 9217390,
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        },
        {
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        {
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        },
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        },
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        },
        {
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        },
        {
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          "end": 9393678
        },
        {
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        },
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        },
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        },
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        },
        {
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        },
        {
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        },
        {
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        },
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        },
        {
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        },
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        {
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        },
        {
          "start": 9437002,
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        },
        {
          "start": 9443981,
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        },
        {
          "start": 9444178,
          "end": 9444243
        },
        {
          "start": 9453347,
          "end": 9453462
        },
        {
          "start": 9457414,
          "end": 9457489
        },
        {
          "start": 9459635,
          "end": 9459810
        },
        {
          "start": 9468571,
          "end": 9468672
        },
        {
          "start": 9472790,
          "end": 9472847
        },
        {
          "start": 9473279,
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        },
        {
          "start": 9476717,
          "end": 9476753
        },
        {
          "start": 9478921,
          "end": 9480808
        }
      ],
      "cds": {
        "start": 9307815,
        "end": 9479009
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 9049410,
      "end": 9461889,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 8657365,
      "end": 9892530,
      "genes": [
        {
          "symbol": "PLCB1",
          "ensemblId": "ENSG00000182621",
          "biotype": "protein_coding",
          "start": 8077251,
          "end": 8968360,
          "strand": "+",
          "slug": "plcb1"
        },
        {
          "symbol": "LAMP5",
          "ensemblId": "ENSG00000125869",
          "biotype": "protein_coding",
          "start": 9514267,
          "end": 9530541,
          "strand": "+",
          "slug": "lamp5"
        },
        {
          "symbol": "PAK5",
          "ensemblId": "ENSG00000101349",
          "biotype": "protein_coding",
          "start": 9537370,
          "end": 9839076,
          "strand": "-",
          "slug": "pak5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "auriculocondylar-syndrome-2-plcb4",
        "name": "Auriculocondylar-Syndrom 2 (PLCB4)",
        "diseases": [
          {
            "mondoId": "MONDO:0013845",
            "name": "Auriculocondylar-Syndrom 2 (PLCB4)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Verursacht wird sie durch Veränderungen im PLCB4-Gen, das in einem Signalweg wirkt, der in der frühen Entwicklung den unteren Gesichtsbereich formt. Sie wird überwiegend als dominant beschrieben, wobei eine veränderte Kopie vererbt oder neu entstanden sein kann. Auch ein rezessiver Erbgang wurde berichtet.",
            "management": "Neugeborene benötigen gegebenenfalls eine Untersuchung der Atemwege und der Nahrungsaufnahme. Hörtests, kieferorthopädische und kieferchirurgische Behandlungen sowie eine Ohrrekonstruktion werden bei Bedarf angeboten. Eine genetische Beratung hilft, den Erbgang und das Wiederholungsrisiko für die Familie zu klären.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/auriculocondylar-syndrome-2-plcb4"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-crus-of-the-helix",
        "name": "Abnormality of the crus of the helix",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-crus-of-the-helix"
      },
      {
        "slug": "abnormality-of-the-temporomandibular-joint",
        "name": "Abnormality of the jaw joint",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-temporomandibular-joint"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "microglossia",
        "name": "Abnormally small tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microglossia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-external-ear",
        "name": "Absent/small external ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-external-ear"
      },
      {
        "slug": "temporomandibular-joint-ankylosis",
        "name": "Adhesion of the temporomandibular joint",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/temporomandibular-joint-ankylosis"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "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": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "central-sleep-apnea",
        "name": "Central sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/central-sleep-apnea"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "cleft-at-the-superior-portion-of-the-pinna",
        "name": "Cleft at the superior portion of the pinna",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/cleft-at-the-superior-portion-of-the-pinna"
      },
      {
        "slug": "cleft-helix",
        "name": "Cleft helix",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cleft-helix"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "darwin-tubercle-of-helix",
        "name": "Darwin tubercle of helix",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/darwin-tubercle-of-helix"
      },
      {
        "slug": "dental-crowding",
        "name": "Dental crowding",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dental-crowding"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "facial-asymmetry",
        "name": "Facial asymmetry",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/facial-asymmetry"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hamartoma-of-tongue",
        "name": "Hamartoma of tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hamartoma-of-tongue"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypoplastic-superior-helix",
        "name": "Hypoplastic superior helix",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-superior-helix"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "long-penis",
        "name": "Long penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-penis"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "mandibular-condyle-aplasia",
        "name": "Mandibular condyle aplasia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mandibular-condyle-aplasia"
      },
      {
        "slug": "mandibular-condyle-hypoplasia",
        "name": "Mandibular condyle hypoplasia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mandibular-condyle-hypoplasia"
      },
      {
        "slug": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "synophrys",
        "name": "Monobrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/synophrys"
      },
      {
        "slug": "stenosis-of-the-external-auditory-canal",
        "name": "Narrow ear canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stenosis-of-the-external-auditory-canal"
      },
      {
        "slug": "narrow-forehead",
        "name": "Narrow forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-forehead"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "obstructive-sleep-apnea",
        "name": "Obstructive sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/obstructive-sleep-apnea"
      },
      {
        "slug": "omphalocele",
        "name": "Omphalocele",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/omphalocele"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/opisthotonus"
      },
      {
        "slug": "overfolding-of-the-superior-helices",
        "name": "Overfolding of the superior helices",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/overfolding-of-the-superior-helices"
      },
      {
        "slug": "periauricular-skin-pits",
        "name": "Pits around the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periauricular-skin-pits"
      },
      {
        "slug": "question-mark-ear",
        "name": "Question mark ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/question-mark-ear"
      },
      {
        "slug": "glossoptosis",
        "name": "Retraction of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glossoptosis"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "short-mandibular-rami",
        "name": "Short mandibular rami",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-mandibular-rami"
      },
      {
        "slug": "postauricular-skin-tag",
        "name": "Skin tag behind the ear",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postauricular-skin-tag"
      },
      {
        "slug": "preauricular-skin-tag",
        "name": "Skin tag in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/preauricular-skin-tag"
      },
      {
        "slug": "snoring",
        "name": "Snoring",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/snoring"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "speech-articulation-difficulties",
        "name": "Speech articulation difficulties",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/speech-articulation-difficulties"
      },
      {
        "slug": "tongue-muscle-weakness",
        "name": "Tongue muscle weakness",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tongue-muscle-weakness"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "vein-of-galen-aneurysmal-malformation",
        "name": "Vein of Galen aneurysmal malformation",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/vein-of-galen-aneurysmal-malformation"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}