{
  "url": "https://dantelabs.com/nl/genes/samhd1",
  "gene": {
    "slug": "samhd1",
    "symbol": "SAMHD1",
    "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
    "hgnc": "HGNC:15925",
    "summary": null,
    "location": "20q11.23",
    "locusType": "gene with protein product",
    "aliases": [
      "SBBI88",
      "Mg11",
      "HDDC1",
      "MOP-5",
      "AGS5"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000101347",
    "entrezId": 25939,
    "omim": [
      "606754"
    ],
    "uniprot": [
      "Q9Y3Z3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 36890229,
      "end": 36951708,
      "strand": "-",
      "ensemblTranscript": "ENST00000646673.2",
      "refseqTranscript": "NM_015474.4",
      "ensemblProtein": "ENSP00000493536.2",
      "refseqProtein": "NP_056289.2",
      "exons": [
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      ],
      "cds": {
        "start": 36892932,
        "end": 36951643
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
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      "end": 35580246,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 36420969,
      "end": 37420968,
      "genes": [
        {
          "symbol": "DLGAP4",
          "ensemblId": "ENSG00000080845",
          "biotype": "protein_coding",
          "start": 36306302,
          "end": 36528637,
          "strand": "+",
          "slug": "dlgap4"
        },
        {
          "symbol": "MYL9",
          "ensemblId": "ENSG00000101335",
          "biotype": "protein_coding",
          "start": 36541482,
          "end": 36551950,
          "strand": "+",
          "slug": "myl9"
        },
        {
          "symbol": "TGIF2",
          "ensemblId": "ENSG00000118707",
          "biotype": "protein_coding",
          "start": 36571894,
          "end": 36593950,
          "strand": "+",
          "slug": "tgif2"
        },
        {
          "symbol": "TGIF2-RAB5IF",
          "ensemblId": "ENSG00000259399",
          "biotype": "protein_coding",
          "start": 36574553,
          "end": 36612384,
          "strand": "+",
          "slug": "tgif2-rab5if"
        },
        {
          "symbol": "RAB5IF",
          "ensemblId": "ENSG00000101084",
          "biotype": "protein_coding",
          "start": 36605718,
          "end": 36612557,
          "strand": "+",
          "slug": "rab5if"
        },
        {
          "symbol": "SLA2",
          "ensemblId": "ENSG00000101082",
          "biotype": "protein_coding",
          "start": 36612318,
          "end": 36646219,
          "strand": "-",
          "slug": "sla2"
        },
        {
          "symbol": "NDRG3",
          "ensemblId": "ENSG00000101079",
          "biotype": "protein_coding",
          "start": 36651766,
          "end": 36746157,
          "strand": "-",
          "slug": "ndrg3"
        },
        {
          "symbol": "DSN1",
          "ensemblId": "ENSG00000149636",
          "biotype": "protein_coding",
          "start": 36751791,
          "end": 36774298,
          "strand": "-",
          "slug": "dsn1"
        },
        {
          "symbol": "MTCL2",
          "ensemblId": "ENSG00000149639",
          "biotype": "protein_coding",
          "start": 36777447,
          "end": 36863795,
          "strand": "-",
          "slug": "mtcl2"
        },
        {
          "symbol": "TLDC2",
          "ensemblId": "ENSG00000101342",
          "biotype": "protein_coding",
          "start": 36873061,
          "end": 36898931,
          "strand": "+",
          "slug": "tldc2"
        },
        {
          "symbol": "RBL1",
          "ensemblId": "ENSG00000080839",
          "biotype": "protein_coding",
          "start": 36996088,
          "end": 37096034,
          "strand": "-",
          "slug": "rbl1"
        },
        {
          "symbol": "MROH8",
          "ensemblId": "ENSG00000101353",
          "biotype": "protein_coding",
          "start": 37101226,
          "end": 37179588,
          "strand": "-",
          "slug": "mroh8"
        },
        {
          "symbol": "RPN2",
          "ensemblId": "ENSG00000118705",
          "biotype": "protein_coding",
          "start": 37178396,
          "end": 37241630,
          "strand": "+",
          "slug": "rpn2"
        },
        {
          "symbol": "GHRH",
          "ensemblId": "ENSG00000118702",
          "biotype": "protein_coding",
          "start": 37251082,
          "end": 37261819,
          "strand": "-",
          "slug": "ghrh"
        },
        {
          "symbol": "MANBAL",
          "ensemblId": "ENSG00000101363",
          "biotype": "protein_coding",
          "start": 37289559,
          "end": 37317260,
          "strand": "+",
          "slug": "manbal"
        },
        {
          "symbol": "SRC",
          "ensemblId": "ENSG00000197122",
          "biotype": "protein_coding",
          "start": 37344673,
          "end": 37406050,
          "strand": "+",
          "slug": "src"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "aicardi-goutieres-syndrome",
        "name": "Aicardi-Goutières-syndroom",
        "diseases": [
          {
            "mondoId": "MONDO:0700260",
            "name": "SAMHD1-gerelateerde type 1-interferonopathie",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "SAMHD1-varianten die het Aicardi-Goutières-syndroom veroorzaken, soms met cerebrale vasculopathie.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018866",
            "name": "Aicardi-Goutières-syndroom",
            "genes": 8,
            "inheritance": "autosomal-recessive",
            "description": "Het Aicardi-Goutières-syndroom (AGS) is een erfelijke, subacute encefalopathie die wordt gekenmerkt door een combinatie van verkalking in de basale ganglia, leukodystrofie en lymfocytose in de liquor cerebrospinalis (CSF).",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/aicardi-goutieres-syndrome"
      },
      {
        "slug": "moyamoya-disease",
        "name": "Moyamoya-ziekte",
        "diseases": [
          {
            "mondoId": "MONDO:0016820",
            "name": "Moyamoya-ziekte",
            "genes": 4,
            "inheritance": null,
            "description": "Progressieve vernauwing van de slagaders aan de basis van de hersenen, in verband gebracht met veranderingen in RNF213 (een aanlegggen met verminderde penetrantie, die vooral vaak voorkomt bij bevolkingsgroepen uit Oost-Azië), ACTA2 of GUCY1A1, die beroertes of mini-beroertes kunnen veroorzaken.",
            "management": "Als u hiervan op de hoogte bent, kunt u tijdig laten onderzoeken of u klachten heeft zoals tijdelijke zwakte, en heeft u toegang tot gespecialiseerde beroertepreventie en chirurgische behandeling.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/moyamoya-disease"
      },
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Zeldzame monogene auto-inflammatoire ziekten",
        "diseases": [
          {
            "mondoId": "MONDO:0957018",
            "name": "Auto-inflammatie en auto-immuniteit gerelateerd aan PTPN2",
            "genes": 22,
            "inheritance": "autosomal-dominant",
            "description": "Vroeg begonnen inflammatoire en auto-immuunziekte, waaronder colitis en artritis, veroorzaakt door varianten in PTPN2.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/rare-monogenic-autoinflammatory-diseases"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Overige aangeboren immuunstoornissen",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Aangeboren immuundeficiëntie",
            "genes": 114,
            "inheritance": null,
            "description": "Erfelijke aandoeningen van het immuunsysteem die worden veroorzaakt door veranderingen in één gen en die invloed hebben op hoe het lichaam infecties bestrijdt of ontstekingen reguleert.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/immunodeficiency-disease"
      },
      {
        "slug": "leukodystrophy",
        "name": "Overige erfelijke leukodystrofieën",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrofie (overige en niet-gespecificeerde typen)",
            "genes": 80,
            "inheritance": null,
            "description": "Erfelijke aandoeningen die de vorming van myeline, de witte stof van de hersenen en het ruggenmerg, beschadigen of normale vorming verhinderen. Afhankelijk van het betrokken gen volgen de verschillende typen autosomaal recessieve, autosomaal dominante of X-gebonden overerving.",
            "management": "Het kennen van de specifieke genetische oorzaak kan een diagnostisch zoektraject beëindigen, de ondersteunende zorg en controles sturen, laten zien of een specifieke behandeling bestaat, en het mogelijk maken familieleden te testen.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "abnormality-of-eye-movement",
        "name": "Abnormality of eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-eye-movement"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "arrhinencephaly",
        "name": "Arrhinencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arrhinencephaly"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "plagiocephaly",
        "name": "Asymmetry of the posterior head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/plagiocephaly"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "basal-ganglia-calcification",
        "name": "Basal ganglia calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/basal-ganglia-calcification"
      },
      {
        "slug": "convex-nasal-ridge",
        "name": "Beaked nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/convex-nasal-ridge"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "aortic-aneurysm",
        "name": "Bulge in wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/aortic-aneurysm"
      },
      {
        "slug": "calcification-of-the-aorta",
        "name": "Calcification of the aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/calcification-of-the-aorta"
      },
      {
        "slug": "porencephalic-cyst",
        "name": "Cavity within brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/porencephalic-cyst"
      },
      {
        "slug": "chilblains",
        "name": "Chilblains",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chilblains"
      },
      {
        "slug": "chronic-csf-lymphocytosis",
        "name": "Chronic CSF lymphocytosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-csf-lymphocytosis"
      },
      {
        "slug": "chronic-lymphatic-leukemia",
        "name": "Chronic lymphatic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chronic-lymphatic-leukemia"
      },
      {
        "slug": "eyelid-coloboma",
        "name": "Cleft eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eyelid-coloboma"
      },
      {
        "slug": "csf-lymphocytic-pleiocytosis",
        "name": "CSF lymphocytic pleiocytosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/csf-lymphocytic-pleiocytosis"
      },
      {
        "slug": "cutis-marmorata",
        "name": "Cutis marmorata",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutis-marmorata"
      },
      {
        "slug": "deep-white-matter-hypodensities",
        "name": "Deep white matter hypodensities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/deep-white-matter-hypodensities"
      },
      {
        "slug": "degeneration-of-the-striatum",
        "name": "Degeneration of the striatum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/degeneration-of-the-striatum"
      },
      {
        "slug": "demyelinating-peripheral-neuropathy",
        "name": "Demyelinating peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy"
      },
      {
        "slug": "developmental-glaucoma",
        "name": "Developmental glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-glaucoma"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "arthropathy",
        "name": "Disease of the joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/arthropathy"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "enchondroma",
        "name": "Enchondroma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/enchondroma"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "extrapyramidal-muscular-rigidity",
        "name": "Extrapyramidal muscular rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/extrapyramidal-muscular-rigidity"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hoarse-voice",
        "name": "Hoarse voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hoarse-voice"
      },
      {
        "slug": "increased-circulating-interferon-gamma-concentration",
        "name": "Increased circulating interferon-gamma concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-interferon-gamma-concentration"
      },
      {
        "slug": "increased-csf-interferon-alpha",
        "name": "Increased CSF interferon alpha",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-csf-interferon-alpha"
      },
      {
        "slug": "panniculitis",
        "name": "Inflammation of fat tissue",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/panniculitis"
      },
      {
        "slug": "intracerebral-periventricular-calcifications",
        "name": "Intracerebral periventricular calcifications",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intracerebral-periventricular-calcifications"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "lipoatrophy",
        "name": "Loss of fat tissue in localized area",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/lipoatrophy"
      },
      {
        "slug": "loss-of-speech",
        "name": "Loss of speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-speech"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "moyamoya-phenomenon",
        "name": "Moyamoya phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/moyamoya-phenomenon"
      },
      {
        "slug": "multifocal-cerebral-white-matter-abnormalities",
        "name": "Multifocal cerebral white matter abnormalities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multifocal-cerebral-white-matter-abnormalities"
      },
      {
        "slug": "multiple-joint-contractures",
        "name": "Multiple joint contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-joint-contractures"
      },
      {
        "slug": "myositis",
        "name": "Muscle inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/myositis"
      },
      {
        "slug": "muscle-stiffness",
        "name": "Muscle stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-stiffness"
      },
      {
        "slug": "neonatal-alloimmune-thrombocytopenia",
        "name": "Neonatal alloimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-alloimmune-thrombocytopenia"
      },
      {
        "slug": "papillary-dermal-edema",
        "name": "Papillary dermal edema",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/papillary-dermal-edema"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "acrocyanosis",
        "name": "Persistent blue color of hands or feet",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acrocyanosis"
      },
      {
        "slug": "cutaneous-photosensitivity",
        "name": "Photosensitive skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cutaneous-photosensitivity"
      },
      {
        "slug": "prolonged-neonatal-jaundice",
        "name": "Prolonged yellowing of skin in newborn",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice"
      },
      {
        "slug": "raynaud-phenomenon",
        "name": "Raynaud phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/raynaud-phenomenon"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "unexplained-fevers",
        "name": "Unexplained fevers",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unexplained-fevers"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 4,
        "url": "https://dantelabs.com/nl/genes/adar"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 4,
        "url": "https://dantelabs.com/nl/genes/ifih1"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "name": "ribonuclease H2 subunit A",
        "shared": 4,
        "url": "https://dantelabs.com/nl/genes/rnaseh2a"
      },
      {
        "slug": "rnaseh2b",
        "symbol": "RNASEH2B",
        "name": "ribonuclease H2 subunit B",
        "shared": 4,
        "url": "https://dantelabs.com/nl/genes/rnaseh2b"
      },
      {
        "slug": "rnaseh2c",
        "symbol": "RNASEH2C",
        "name": "ribonuclease H2 subunit C",
        "shared": 4,
        "url": "https://dantelabs.com/nl/genes/rnaseh2c"
      },
      {
        "slug": "rnu7-1",
        "symbol": "RNU7-1",
        "name": "RNA, U7 small nuclear 1",
        "shared": 4,
        "url": "https://dantelabs.com/nl/genes/rnu7-1"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "name": "three prime repair exonuclease 1",
        "shared": 4,
        "url": "https://dantelabs.com/nl/genes/trex1"
      },
      {
        "slug": "skic2",
        "symbol": "SKIC2",
        "name": "SKI2 subunit of superkiller complex",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/skic2"
      },
      {
        "slug": "skic3",
        "symbol": "SKIC3",
        "name": "SKI3 subunit of superkiller complex",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/skic3"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/abcd1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}