{
  "url": "https://dantelabs.com/fr/genes/rbm8a",
  "gene": {
    "slug": "rbm8a",
    "symbol": "RBM8A",
    "name": "RNA binding motif protein 8A",
    "hgnc": "HGNC:9905",
    "summary": null,
    "location": "1q21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "ZNRP",
      "BOV-1A",
      "BOV-1B",
      "BOV-1C",
      "Y14"
    ],
    "previousSymbols": [
      "RBM8"
    ],
    "ensemblId": "ENSG00000265241",
    "entrezId": 9939,
    "omim": [
      "605313"
    ],
    "uniprot": [
      "Q9Y5S9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 145921556,
      "end": 145927484,
      "strand": "-",
      "ensemblTranscript": "ENST00000583313.7",
      "refseqTranscript": "NM_005105.5",
      "ensemblProtein": "ENSP00000463058.2",
      "refseqProtein": "NP_005096.1",
      "exons": [
        {
          "start": 145921556,
          "end": 145925927
        },
        {
          "start": 145926041,
          "end": 145926177
        },
        {
          "start": 145926482,
          "end": 145926618
        },
        {
          "start": 145926809,
          "end": 145926886
        },
        {
          "start": 145927018,
          "end": 145927077
        },
        {
          "start": 145927360,
          "end": 145927484
        }
      ],
      "cds": {
        "start": 145925882,
        "end": 145927426
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 145507598,
      "end": 145513536,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 145424520,
      "end": 146424519,
      "genes": [
        {
          "symbol": "NBPF20",
          "ensemblId": "ENSG00000162825",
          "biotype": "protein_coding",
          "start": 145289900,
          "end": 145425624,
          "strand": "-",
          "slug": "nbpf20"
        },
        {
          "symbol": "GPHRA",
          "ensemblId": "ENSG00000117262",
          "biotype": "protein_coding",
          "start": 145607975,
          "end": 145671421,
          "strand": "+",
          "slug": "gphra"
        },
        {
          "symbol": "PDZK1",
          "ensemblId": "ENSG00000174827",
          "biotype": "protein_coding",
          "start": 145670848,
          "end": 145721615,
          "strand": "-",
          "slug": "pdzk1"
        },
        {
          "symbol": "CD160",
          "ensemblId": "ENSG00000117281",
          "biotype": "protein_coding",
          "start": 145719443,
          "end": 145740760,
          "strand": "+",
          "slug": "cd160"
        },
        {
          "symbol": "RNF115",
          "ensemblId": "ENSG00000265491",
          "biotype": "protein_coding",
          "start": 145738868,
          "end": 145824134,
          "strand": "-",
          "slug": "rnf115"
        },
        {
          "symbol": "POLR3C",
          "ensemblId": "ENSG00000186141",
          "biotype": "protein_coding",
          "start": 145823776,
          "end": 145844721,
          "strand": "+",
          "slug": "polr3c"
        },
        {
          "symbol": "NUDT17",
          "ensemblId": "ENSG00000186364",
          "biotype": "protein_coding",
          "start": 145845603,
          "end": 145848954,
          "strand": "+",
          "slug": "nudt17"
        },
        {
          "symbol": "PIAS3",
          "ensemblId": "ENSG00000131788",
          "biotype": "protein_coding",
          "start": 145848521,
          "end": 145859836,
          "strand": "-",
          "slug": "pias3"
        },
        {
          "symbol": "ANKRD35",
          "ensemblId": "ENSG00000198483",
          "biotype": "protein_coding",
          "start": 145865390,
          "end": 145886088,
          "strand": "-",
          "slug": "ankrd35"
        },
        {
          "symbol": "ITGA10",
          "ensemblId": "ENSG00000143127",
          "biotype": "protein_coding",
          "start": 145891206,
          "end": 145910111,
          "strand": "-",
          "slug": "itga10"
        },
        {
          "symbol": "PEX11B",
          "ensemblId": "ENSG00000131779",
          "biotype": "protein_coding",
          "start": 145911348,
          "end": 145918747,
          "strand": "-",
          "slug": "pex11b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289565",
          "biotype": "protein_coding",
          "start": 145917714,
          "end": 145926741,
          "strand": "-"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000280778",
          "biotype": "protein_coding",
          "start": 145927258,
          "end": 145977811,
          "strand": "+"
        },
        {
          "symbol": "LIX1L",
          "ensemblId": "ENSG00000271601",
          "biotype": "protein_coding",
          "start": 145933423,
          "end": 145958055,
          "strand": "-",
          "slug": "lix1l"
        },
        {
          "symbol": "POLR3GL",
          "ensemblId": "ENSG00000121851",
          "biotype": "protein_coding",
          "start": 145957026,
          "end": 145978849,
          "strand": "+",
          "slug": "polr3gl"
        },
        {
          "symbol": "ANKRD34A",
          "ensemblId": "ENSG00000272031",
          "biotype": "protein_coding",
          "start": 145959441,
          "end": 145964575,
          "strand": "-",
          "slug": "ankrd34a"
        },
        {
          "symbol": "TXNIP",
          "ensemblId": "ENSG00000265972",
          "biotype": "protein_coding",
          "start": 145992435,
          "end": 145996580,
          "strand": "-",
          "slug": "txnip"
        },
        {
          "symbol": "HJV",
          "ensemblId": "ENSG00000168509",
          "biotype": "protein_coding",
          "start": 146017468,
          "end": 146036746,
          "strand": "-",
          "slug": "hjv"
        },
        {
          "symbol": "NBPF10",
          "ensemblId": "ENSG00000271425",
          "biotype": "protein_coding",
          "start": 146064711,
          "end": 146229000,
          "strand": "-",
          "slug": "nbpf10"
        },
        {
          "symbol": "NOTCH2NLA",
          "ensemblId": "ENSG00000264343",
          "biotype": "protein_coding",
          "start": 146145524,
          "end": 146229073,
          "strand": "-",
          "slug": "notch2nla"
        },
        {
          "symbol": "PPIAL4H",
          "ensemblId": "ENSG00000270339",
          "biotype": "protein_coding",
          "start": 146344006,
          "end": 146344765,
          "strand": "-",
          "slug": "ppial4h"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-thrombocytopenias",
        "name": "Thrombocytopénies héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0100241",
            "name": "Thrombocytopénie héréditaire",
            "genes": 33,
            "inheritance": null,
            "description": "Groupe de maladies entraînant une numération plaquettaire basse tout au long de la vie, liées à des gènes tels que MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 et MECOM, et transmises selon des modes dominant, récessif ou lié à l’X.",
            "management": "Un diagnostic génétique permet d’éviter une erreur de diagnostic de thrombocytopénie immunologique, avec des traitements stéroïdiens ou une ablation de la rate inutiles, et oriente la surveillance des problèmes rénaux, auditifs ou sanguins associés.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/inherited-thrombocytopenias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cardiac-septum-morphology",
        "name": "Abnormal cardiac septum morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiac-septum-morphology"
      },
      {
        "slug": "renal-malrotation",
        "name": "Abnormal rotation of the kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-malrotation"
      },
      {
        "slug": "abnormality-of-coagulation",
        "name": "Abnormality of coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-coagulation"
      },
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "slug": "abnormal-shoulder-morphology",
        "name": "Abnormality of the shoulder",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-shoulder-morphology"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-ulna",
        "name": "Absence/underdevelopment of inner forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-ulna"
      },
      {
        "slug": "fibular-aplasia",
        "name": "Absent calf bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fibular-aplasia"
      },
      {
        "slug": "patellar-aplasia",
        "name": "Absent kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patellar-aplasia"
      },
      {
        "slug": "aplasia-of-the-uterus",
        "name": "Absent uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-of-the-uterus"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-patella",
        "name": "Absent/small kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-patella"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-humerus",
        "name": "Absent/small long bone in upper arm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-humerus"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "axial-malrotation-of-the-kidney",
        "name": "Axial malrotation of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/axial-malrotation-of-the-kidney"
      },
      {
        "slug": "bilateral-radial-aplasia",
        "name": "Bilateral radial aplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-radial-aplasia"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "broad-thumb",
        "name": "Broad thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-thumb"
      },
      {
        "slug": "cavum-septum-pellucidum",
        "name": "Cavum septum pellucidum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cavum-septum-pellucidum"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "cervical-ribs",
        "name": "Cervical ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cervical-ribs"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "cow-milk-allergy",
        "name": "Cow milk allergy",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cow-milk-allergy"
      },
      {
        "slug": "coxa-valga",
        "name": "Coxa valga",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coxa-valga"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "ulnar-bowing",
        "name": "Curving of inner forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ulnar-bowing"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "dilatation-of-the-renal-pelvis",
        "name": "Dilatation of the renal pelvis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dilatation-of-the-renal-pelvis"
      },
      {
        "slug": "patellar-dislocation",
        "name": "Dislocated kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patellar-dislocation"
      },
      {
        "slug": "ureteral-duplication",
        "name": "Double ureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ureteral-duplication"
      },
      {
        "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": "edema-of-the-dorsum-of-feet",
        "name": "Edema of the dorsum of feet",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/edema-of-the-dorsum-of-feet"
      },
      {
        "slug": "edema-of-the-dorsum-of-hands",
        "name": "Edema of the dorsum of hands",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/edema-of-the-dorsum-of-hands"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "facial-capillary-hemangioma",
        "name": "Facial capillary hemangioma",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-capillary-hemangioma"
      },
      {
        "slug": "finger-syndactyly",
        "name": "Finger syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/finger-syndactyly"
      },
      {
        "slug": "syringomyelia",
        "name": "Fluid-filled cyst in spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/syringomyelia"
      },
      {
        "slug": "fused-cervical-vertebrae",
        "name": "Fused neck",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fused-cervical-vertebrae"
      },
      {
        "slug": "carpal-synostosis",
        "name": "Fused wrist bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/carpal-synostosis"
      },
      {
        "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": "increased-total-eosinophil-count",
        "name": "High blood eosinophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-eosinophil-count"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "atrioventricular-canal-defect",
        "name": "Hole in center of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/atrioventricular-canal-defect"
      },
      {
        "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": "lateral-clavicle-hook",
        "name": "Hook-shaped collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lateral-clavicle-hook"
      },
      {
        "slug": "horseshoe-kidney",
        "name": "Horseshoe kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/horseshoe-kidney"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "adducted-thumb",
        "name": "Inward turned thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/adducted-thumb"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "meckel-diverticulum",
        "name": "Meckel diverticulum",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/meckel-diverticulum"
      },
      {
        "slug": "absent-radius",
        "name": "Missing outer large bone of forearm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-radius"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "coarctation-of-aorta",
        "name": "Narrowing of aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coarctation-of-aorta"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "genu-varum",
        "name": "Outward bow-leggedness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/genu-varum"
      },
      {
        "slug": "pancreatic-cysts",
        "name": "Pancreatic cysts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/pancreatic-cysts"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "phocomelia",
        "name": "Phocomelia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/phocomelia"
      },
      {
        "slug": "nevus-flammeus-of-the-forehead",
        "name": "Port-wine stain on forehead",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nevus-flammeus-of-the-forehead"
      },
      {
        "slug": "prolonged-bleeding-following-circumcision",
        "name": "Prolonged bleeding following circumcision",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-following-circumcision"
      },
      {
        "slug": "radial-deviation-of-the-hand",
        "name": "Radial deviation of the hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/radial-deviation-of-the-hand"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "seborrheic-dermatitis",
        "name": "Seborrheic dermatitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/seborrheic-dermatitis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-phalanx-of-finger",
        "name": "Short finger bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-phalanx-of-finger"
      },
      {
        "slug": "short-forearm",
        "name": "Short forearm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-forearm"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-thumb",
        "name": "Short thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-thumb"
      },
      {
        "slug": "carpal-bone-hypoplasia",
        "name": "Small carpal bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/carpal-bone-hypoplasia"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "spina-bifida",
        "name": "Split spine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spina-bifida"
      },
      {
        "slug": "tetralogy-of-fallot",
        "name": "Tetralogy of Fallot",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tetralogy-of-fallot"
      },
      {
        "slug": "tibial-torsion",
        "name": "Tibial torsion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tibial-torsion"
      },
      {
        "slug": "ulnar-deviation-of-the-hand",
        "name": "Ulnar deviation of the hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ulnar-deviation-of-the-hand"
      },
      {
        "slug": "hypoplasia-of-the-ulna",
        "name": "Underdeveloped inner large forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-ulna"
      },
      {
        "slug": "hypoplasia-of-the-radius",
        "name": "Underdeveloped outer large forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-radius"
      },
      {
        "slug": "shoulder-muscle-hypoplasia",
        "name": "Underdeveloped shoulder muscle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/shoulder-muscle-hypoplasia"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/actb"
      },
      {
        "slug": "actn1",
        "symbol": "ACTN1",
        "name": "actinin alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/actn1"
      },
      {
        "slug": "adamts13",
        "symbol": "ADAMTS13",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/adamts13"
      },
      {
        "slug": "ankrd26",
        "symbol": "ANKRD26",
        "name": "ankyrin repeat domain 26",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ankrd26"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arpc1b"
      },
      {
        "slug": "cdc42",
        "symbol": "CDC42",
        "name": "cell division cycle 42",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cdc42"
      },
      {
        "slug": "cycs",
        "symbol": "CYCS",
        "name": "cytochrome c, somatic",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cycs"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "name": "diaphanous related formin 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/diaph1"
      },
      {
        "slug": "etv6",
        "symbol": "ETV6",
        "name": "ETS variant transcription factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/etv6"
      },
      {
        "slug": "fli1",
        "symbol": "FLI1",
        "name": "Fli-1 proto-oncogene, ETS transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/fli1"
      },
      {
        "slug": "fyb1",
        "symbol": "FYB1",
        "name": "FYN binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/fyb1"
      },
      {
        "slug": "gale",
        "symbol": "GALE",
        "name": "UDP-galactose-4-epimerase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/gale"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}