{
  "url": "https://dantelabs.com/nl/genes/samd9l",
  "gene": {
    "slug": "samd9l",
    "symbol": "SAMD9L",
    "name": "sterile alpha motif domain containing 9 like",
    "hgnc": "HGNC:1349",
    "summary": null,
    "location": "7q21.2",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA2005",
      "FLJ39885"
    ],
    "previousSymbols": [
      "C7orf6"
    ],
    "ensemblId": "ENSG00000177409",
    "entrezId": 219285,
    "omim": [
      "611170"
    ],
    "uniprot": [
      "Q8IVG5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 93130056,
      "end": 93148385,
      "strand": "-",
      "ensemblTranscript": "ENST00000318238.9",
      "refseqTranscript": "NM_152703.5",
      "ensemblProtein": "ENSP00000326247.4",
      "refseqProtein": "NP_689916.2",
      "exons": [
        {
          "start": 93130056,
          "end": 93135991
        },
        {
          "start": 93144732,
          "end": 93144833
        },
        {
          "start": 93145385,
          "end": 93146040
        },
        {
          "start": 93146883,
          "end": 93147146
        },
        {
          "start": 93148194,
          "end": 93148385
        }
      ],
      "cds": {
        "start": 93131217,
        "end": 93135971
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 92759368,
      "end": 92777682,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 92639221,
      "end": 93639220,
      "genes": [
        {
          "symbol": "CDK6",
          "ensemblId": "ENSG00000105810",
          "biotype": "protein_coding",
          "start": 92604921,
          "end": 92837004,
          "strand": "-",
          "slug": "cdk6"
        },
        {
          "symbol": "SAMD9",
          "ensemblId": "ENSG00000205413",
          "biotype": "protein_coding",
          "start": 93099513,
          "end": 93118042,
          "strand": "-",
          "slug": "samd9"
        },
        {
          "symbol": "HEPACAM2",
          "ensemblId": "ENSG00000188175",
          "biotype": "protein_coding",
          "start": 93188444,
          "end": 93226559,
          "strand": "-",
          "slug": "hepacam2"
        },
        {
          "symbol": "VPS50",
          "ensemblId": "ENSG00000004766",
          "biotype": "protein_coding",
          "start": 93232340,
          "end": 93361123,
          "strand": "+",
          "slug": "vps50"
        },
        {
          "symbol": "CALCR",
          "ensemblId": "ENSG00000004948",
          "biotype": "protein_coding",
          "start": 93424486,
          "end": 93575738,
          "strand": "-",
          "slug": "calcr"
        },
        {
          "symbol": "GNGT1",
          "ensemblId": "ENSG00000127928",
          "biotype": "protein_coding",
          "start": 93591329,
          "end": 93911265,
          "strand": "+",
          "slug": "gngt1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "germline-predisposition-myeloid-malignancy",
        "name": "Erfelijke aanleg voor myeloïde bloedkanker",
        "diseases": [
          {
            "mondoId": "MONDO:1060111",
            "name": "Spectrum gerelateerd aan SAMD9L en risico op myeloïde neoplasie",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "SAMD9L-varianten die in verband worden gebracht met lage bloedwaarden, evenwichtsproblemen (ataxie), verlies van chromosoom 7 in het beenmerg en myelodysplastisch syndroom.",
            "management": "Controle van het bloedbeeld en het beenmerg.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/germline-predisposition-myeloid-malignancy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-macrophage-morphology",
        "name": "Abnormal macrophage morphology",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-macrophage-morphology"
      },
      {
        "slug": "abnormal-platelet-function",
        "name": "Abnormal platelet function",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-platelet-function"
      },
      {
        "slug": "ankle-clonus",
        "name": "Abnormal rhythmic movements of ankle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ankle-clonus"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormality-of-neutrophils",
        "name": "Abnormality of neutrophils",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neutrophils"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-cerebellum",
        "name": "Absent/small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellum"
      },
      {
        "slug": "acute-myeloid-leukemia",
        "name": "Acute myeloid leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/acute-myeloid-leukemia"
      },
      {
        "slug": "acute-myelomonocytic-leukemia",
        "name": "Acute myelomonocytic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acute-myelomonocytic-leukemia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dysdiadochokinesis",
        "name": "Difficulty performing quick and alternating movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysdiadochokinesis"
      },
      {
        "slug": "diplopia",
        "name": "Double vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diplopia"
      },
      {
        "slug": "gaze-evoked-nystagmus",
        "name": "Gaze-evoked nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hyperactive-deep-tendon-reflexes",
        "name": "Hyperactive deep tendon reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperactive-deep-tendon-reflexes"
      },
      {
        "slug": "hypoplastic-anemia",
        "name": "Hypoplastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-anemia"
      },
      {
        "slug": "impaired-vibration-sensation-in-the-lower-limbs",
        "name": "Impaired vibration sensation in the lower limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs"
      },
      {
        "slug": "increased-mean-corpuscular-volume",
        "name": "Increased mean corpuscular volume",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/increased-mean-corpuscular-volume"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "sensory-axonal-neuropathy",
        "name": "Sensory axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensory-axonal-neuropathy"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}