{
  "url": "https://dantelabs.com/cs/genes/flvcr1",
  "gene": {
    "slug": "flvcr1",
    "symbol": "FLVCR1",
    "name": "FLVCR choline and heme transporter 1",
    "hgnc": "HGNC:24682",
    "summary": null,
    "location": "1q32.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FLVCR",
      "MFSD7B",
      "PCA",
      "SLC49A1"
    ],
    "previousSymbols": [
      "AXPC1"
    ],
    "ensemblId": "ENSG00000162769",
    "entrezId": 28982,
    "omim": [
      "609144"
    ],
    "uniprot": [
      "Q9Y5Y0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 212858275,
      "end": 212899363,
      "strand": "+",
      "ensemblTranscript": "ENST00000366971.9",
      "refseqTranscript": "NM_014053.4",
      "ensemblProtein": "ENSP00000355938.4",
      "refseqProtein": "NP_054772.1",
      "exons": [
        {
          "start": 212858275,
          "end": 212859190
        },
        {
          "start": 212863725,
          "end": 212863869
        },
        {
          "start": 212872678,
          "end": 212872818
        },
        {
          "start": 212883371,
          "end": 212883438
        },
        {
          "start": 212885293,
          "end": 212885396
        },
        {
          "start": 212887891,
          "end": 212888001
        },
        {
          "start": 212888489,
          "end": 212888594
        },
        {
          "start": 212889146,
          "end": 212889257
        },
        {
          "start": 212894986,
          "end": 212895053
        },
        {
          "start": 212895216,
          "end": 212899363
        }
      ],
      "cds": {
        "start": 212858453,
        "end": 212895290
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 213031597,
      "end": 213072705,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 212378819,
      "end": 213378818,
      "genes": [
        {
          "symbol": "PACC1",
          "ensemblId": "ENSG00000065600",
          "biotype": "protein_coding",
          "start": 212363926,
          "end": 212414923,
          "strand": "-",
          "slug": "pacc1"
        },
        {
          "symbol": "NENF",
          "ensemblId": "ENSG00000117691",
          "biotype": "protein_coding",
          "start": 212432853,
          "end": 212447460,
          "strand": "+",
          "slug": "nenf"
        },
        {
          "symbol": "ATF3",
          "ensemblId": "ENSG00000162772",
          "biotype": "protein_coding",
          "start": 212565334,
          "end": 212620777,
          "strand": "+",
          "slug": "atf3"
        },
        {
          "symbol": "GARIN4",
          "ensemblId": "ENSG00000162771",
          "biotype": "protein_coding",
          "start": 212624474,
          "end": 212626775,
          "strand": "+",
          "slug": "garin4"
        },
        {
          "symbol": "BATF3",
          "ensemblId": "ENSG00000123685",
          "biotype": "protein_coding",
          "start": 212686417,
          "end": 212699888,
          "strand": "-",
          "slug": "batf3"
        },
        {
          "symbol": "NSL1",
          "ensemblId": "ENSG00000117697",
          "biotype": "protein_coding",
          "start": 212726153,
          "end": 212791799,
          "strand": "-",
          "slug": "nsl1"
        },
        {
          "symbol": "TATDN3",
          "ensemblId": "ENSG00000203705",
          "biotype": "protein_coding",
          "start": 212791828,
          "end": 212816916,
          "strand": "+",
          "slug": "tatdn3"
        },
        {
          "symbol": "SPATA45",
          "ensemblId": "ENSG00000185523",
          "biotype": "protein_coding",
          "start": 212814251,
          "end": 212847658,
          "strand": "-",
          "slug": "spata45"
        },
        {
          "symbol": "VASH2",
          "ensemblId": "ENSG00000143494",
          "biotype": "protein_coding",
          "start": 212950520,
          "end": 212992838,
          "strand": "+",
          "slug": "vash2"
        },
        {
          "symbol": "ANGEL2",
          "ensemblId": "ENSG00000174606",
          "biotype": "protein_coding",
          "start": 212991132,
          "end": 213015877,
          "strand": "-",
          "slug": "angel2"
        },
        {
          "symbol": "RPS6KC1",
          "ensemblId": "ENSG00000136643",
          "biotype": "protein_coding",
          "start": 213051232,
          "end": 213276001,
          "strand": "+",
          "slug": "rps6kc1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "retinitis-pigmentosa",
        "name": "Retinitis Pigmentosa",
        "diseases": [
          {
            "mondoId": "MONDO:0100449",
            "name": "FLVCR1-Related Retinopathy With or Without Ataxia",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "A retinal dystrophy caused by changes in both copies of FLVCR1, sometimes with posterior column ataxia.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/retinitis-pigmentosa"
      },
      {
        "slug": "autosomal-recessive-cerebellar-ataxias",
        "name": "Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)",
        "diseases": [
          {
            "mondoId": "MONDO:0015244",
            "name": "Autosomal Recessive Cerebellar Ataxia",
            "genes": 57,
            "inheritance": "autosomal-recessive",
            "description": "A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.",
            "management": "Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/autosomal-recessive-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-peripheral-nerve-morphology-by-anatomical-site",
        "name": "Abnormal peripheral nerve morphology by anatomical site",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-peripheral-nerve-morphology-by-anatomical-site"
      },
      {
        "slug": "abnormal-sensory-nerve-conduction-velocity",
        "name": "Abnormal sensory nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-sensory-nerve-conduction-velocity"
      },
      {
        "slug": "abnormal-spinal-cord-morphology",
        "name": "Abnormality of the spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-spinal-cord-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "renal-agenesis",
        "name": "Absent kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-agenesis"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "absent-tibia",
        "name": "Absent shankbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-tibia"
      },
      {
        "slug": "achalasia",
        "name": "Achalasia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/achalasia"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "axonal-degeneration",
        "name": "Axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axonal-degeneration"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "central-sleep-apnea",
        "name": "Central sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/central-sleep-apnea"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "chronic-lung-disease",
        "name": "Chronic lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-lung-disease"
      },
      {
        "slug": "chronic-pain",
        "name": "Chronic pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-pain"
      },
      {
        "slug": "ectrodactyly",
        "name": "Cleft hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ectrodactyly"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "sensory-neuropathy",
        "name": "Damage to nerves that sense feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensory-neuropathy"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "decreased-sensory-nerve-conduction-velocity",
        "name": "Decreased sensory nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-sensory-nerve-conduction-velocity"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "enlarged-kidney",
        "name": "Enlarged kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enlarged-kidney"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "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": "flexion-contracture-of-finger",
        "name": "Flexion contracture of finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flexion-contracture-of-finger"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "gastrointestinal-dysmotility",
        "name": "Gastrointestinal dysmotility",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-dysmotility"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hyperintensity-of-mri-t2-signal-of-the-spinal-cord",
        "name": "Hyperintensity of MRI T2 signal of the spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperintensity-of-mri-t2-signal-of-the-spinal-cord"
      },
      {
        "slug": "impaired-proprioception",
        "name": "Impaired proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-proprioception"
      },
      {
        "slug": "impaired-vibration-sensation-in-the-lower-limbs",
        "name": "Impaired vibration sensation in the lower limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "joint-contracture",
        "name": "Joint contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/joint-contracture"
      },
      {
        "slug": "joint-contracture-of-the-hand",
        "name": "Joint contracture of the hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/joint-contracture-of-the-hand"
      },
      {
        "slug": "neurogenic-bladder",
        "name": "Lack of bladder control due to nervous system injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neurogenic-bladder"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "bowel-incontinence",
        "name": "Loss of bowel control",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/bowel-incontinence"
      },
      {
        "slug": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "macrocytic-anemia",
        "name": "Macrocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocytic-anemia"
      },
      {
        "slug": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "polydactyly",
        "name": "More than five fingers or toes on hands or feet",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polydactyly"
      },
      {
        "slug": "motor-polyneuropathy",
        "name": "Motor polyneuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-polyneuropathy"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "bifid-distal-phalanx-of-the-thumb",
        "name": "Notched outermost bone of the thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bifid-distal-phalanx-of-the-thumb"
      },
      {
        "slug": "obstructive-sleep-apnea",
        "name": "Obstructive sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/obstructive-sleep-apnea"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "pain-insensitivity",
        "name": "Pain insensitivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pain-insensitivity"
      },
      {
        "slug": "peripheral-demyelination",
        "name": "Peripheral demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-demyelination"
      },
      {
        "slug": "camptodactyly",
        "name": "Permanent flexion of the finger or toe",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptodactyly"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "positive-romberg-sign",
        "name": "Positive Romberg sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/positive-romberg-sign"
      },
      {
        "slug": "preaxial-polydactyly",
        "name": "Preaxial polydactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/preaxial-polydactyly"
      },
      {
        "slug": "profound-global-developmental-delay",
        "name": "Profound global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/profound-global-developmental-delay"
      },
      {
        "slug": "pterygium",
        "name": "Pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pterygium"
      },
      {
        "slug": "radial-ray-deficiency",
        "name": "Radial ray deficiency",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/radial-ray-deficiency"
      },
      {
        "slug": "ring-scotoma",
        "name": "Ring scotoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ring-scotoma"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "self-mutilation",
        "name": "Self-mutilation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/self-mutilation"
      },
      {
        "slug": "sensory-ataxia",
        "name": "Sensory ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensory-ataxia"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-sternum",
        "name": "Short sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-sternum"
      },
      {
        "slug": "laryngomalacia",
        "name": "Softening of voice box tissue",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/laryngomalacia"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "restrictive-ventilatory-defect",
        "name": "Stiff lung or chest wall causing decreased lung volume",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect"
      },
      {
        "slug": "talipes",
        "name": "Talipes",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/talipes"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "truncal-titubation",
        "name": "Truncal titubation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/truncal-titubation"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "undetectable-electroretinogram",
        "name": "Undetectable electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/undetectable-electroretinogram"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      },
      {
        "slug": "syndactyly",
        "name": "Webbed fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/syndactyly"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/broad-based-gait"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ahi1"
      },
      {
        "slug": "ano10",
        "symbol": "ANO10",
        "name": "anoctamin 10",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ano10"
      },
      {
        "slug": "atcay",
        "symbol": "ATCAY",
        "name": "ATCAY kinesin light chain interacting caytaxin",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/atcay"
      },
      {
        "slug": "atg7",
        "symbol": "ATG7",
        "name": "autophagy related 7",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/atg7"
      },
      {
        "slug": "atp8a2",
        "symbol": "ATP8A2",
        "name": "ATPase phospholipid transporting 8A2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/atp8a2"
      },
      {
        "slug": "ca8",
        "symbol": "CA8",
        "name": "carbonic anhydrase 8 (inactive)",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ca8"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cc2d2a"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cep290"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "name": "centrosomal protein 41",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cep41"
      },
      {
        "slug": "coa7",
        "symbol": "COA7",
        "name": "cytochrome c oxidase assembly factor 7",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/coa7"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/coq8a"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "name": "centrosome and spindle pole associated protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cspp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}