{
  "url": "https://dantelabs.com/pl/genes/wfs1",
  "gene": {
    "slug": "wfs1",
    "symbol": "WFS1",
    "name": "wolframin ER transmembrane glycoprotein",
    "hgnc": "HGNC:12762",
    "summary": null,
    "location": "4p16.1",
    "locusType": "gene with protein product",
    "aliases": [
      "DIDMOAD",
      "WFS"
    ],
    "previousSymbols": [
      "DFNA6",
      "DFNA14",
      "DFNA38"
    ],
    "ensemblId": "ENSG00000109501",
    "entrezId": 7466,
    "omim": [
      "606201"
    ],
    "uniprot": [
      "O76024"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 6269850,
      "end": 6303265,
      "strand": "+",
      "ensemblTranscript": "ENST00000226760.5",
      "refseqTranscript": "NM_006005.3",
      "ensemblProtein": "ENSP00000226760.1",
      "refseqProtein": "NP_005996.2",
      "exons": [
        {
          "start": 6269850,
          "end": 6270014
        },
        {
          "start": 6277451,
          "end": 6277687
        },
        {
          "start": 6287093,
          "end": 6287175
        },
        {
          "start": 6288987,
          "end": 6289131
        },
        {
          "start": 6291197,
          "end": 6291367
        },
        {
          "start": 6291917,
          "end": 6291997
        },
        {
          "start": 6295041,
          "end": 6295189
        },
        {
          "start": 6300657,
          "end": 6303265
        }
      ],
      "cds": {
        "start": 6277456,
        "end": 6302468
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 6271576,
      "end": 6304992,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 5786558,
      "end": 6786557,
      "genes": [
        {
          "symbol": "EVC",
          "ensemblId": "ENSG00000072840",
          "biotype": "protein_coding",
          "start": 5711172,
          "end": 5814305,
          "strand": "+",
          "slug": "evc"
        },
        {
          "symbol": "CRMP1",
          "ensemblId": "ENSG00000072832",
          "biotype": "protein_coding",
          "start": 5748084,
          "end": 5893086,
          "strand": "-",
          "slug": "crmp1"
        },
        {
          "symbol": "C4orf50",
          "ensemblId": "ENSG00000181215",
          "biotype": "protein_coding",
          "start": 5897373,
          "end": 6200596,
          "strand": "-",
          "slug": "c4orf50"
        },
        {
          "symbol": "JAKMIP1",
          "ensemblId": "ENSG00000152969",
          "biotype": "protein_coding",
          "start": 6026199,
          "end": 6200596,
          "strand": "-",
          "slug": "jakmip1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284684",
          "biotype": "protein_coding",
          "start": 6064977,
          "end": 6070162,
          "strand": "-"
        },
        {
          "symbol": "PPP2R2C",
          "ensemblId": "ENSG00000074211",
          "biotype": "protein_coding",
          "start": 6320578,
          "end": 6563823,
          "strand": "-",
          "slug": "ppp2r2c"
        },
        {
          "symbol": "MAN2B2",
          "ensemblId": "ENSG00000013288",
          "biotype": "protein_coding",
          "start": 6575130,
          "end": 6623362,
          "strand": "+",
          "slug": "man2b2"
        },
        {
          "symbol": "MRFAP1",
          "ensemblId": "ENSG00000179010",
          "biotype": "protein_coding",
          "start": 6640091,
          "end": 6642731,
          "strand": "+",
          "slug": "mrfap1"
        },
        {
          "symbol": "MRFAP1L2",
          "ensemblId": "ENSG00000170846",
          "biotype": "protein_coding",
          "start": 6663396,
          "end": 6676755,
          "strand": "+",
          "slug": "mrfap1l2"
        },
        {
          "symbol": "S100P",
          "ensemblId": "ENSG00000163993",
          "biotype": "protein_coding",
          "start": 6693821,
          "end": 6697171,
          "strand": "+",
          "slug": "s100p"
        },
        {
          "symbol": "MRFAP1L1",
          "ensemblId": "ENSG00000178988",
          "biotype": "protein_coding",
          "start": 6702281,
          "end": 6709923,
          "strand": "-",
          "slug": "mrfap1l1"
        },
        {
          "symbol": "BLOC1S4",
          "ensemblId": "ENSG00000186222",
          "biotype": "protein_coding",
          "start": 6716174,
          "end": 6717664,
          "strand": "+",
          "slug": "bloc1s4"
        },
        {
          "symbol": "KIAA0232",
          "ensemblId": "ENSG00000170871",
          "biotype": "protein_coding",
          "start": 6781375,
          "end": 6884175,
          "strand": "+",
          "slug": "kiaa0232"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Utrata słuchu i głuchota",
        "diseases": [
          {
            "mondoId": "MONDO:0019587",
            "name": "Autosomalna dominująca niesyndromowa utrata słuchu",
            "genes": 39,
            "inheritance": "autosomal-dominant",
            "description": "Autosomalna dominująca postać niesyndromowej głuchoty.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019497",
            "name": "Niezespołowa genetyczna utrata słuchu",
            "genes": 97,
            "inheritance": null,
            "description": "Dziedziczna utrata słuchu bez innych objawów medycznych, obejmująca częste recesywne postacie wywoływane przez GJB2, OTOF, SLC26A4, STRC i wiele innych genów, a także postacie dominujące, sprzężone z chromosomem X oraz mitochondrialne.",
            "management": "Znajomość genetycznej przyczyny może pomóc w wyborze wsparcia słuchowego i decyzji dotyczących implantu ślimakowego, kwalifikacji do badań terapii genowych (na przykład w przypadku OTOF) oraz poradnictwa rodzinnego.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/hearing-loss-and-deafness"
      },
      {
        "slug": "hereditary-congenital-and-juvenile-cataract",
        "name": "Dziedziczna wrodzona i młodzieńcza zaćma",
        "diseases": [
          {
            "mondoId": "MONDO:0011060",
            "name": "Niezespołowa zaćma o wczesnym początku",
            "genes": 22,
            "inheritance": null,
            "description": "Zaćma pojawiająca się od urodzenia lub we wczesnym okresie życia, bez innych objawów, spowodowana zmianami w genach soczewki, takich jak krystaliny (CRYAA, CRYBB2, CRYGD i inne), GJA3, GJA8 oraz MIP.",
            "management": "Wczesne wykrycie i leczenie chirurgiczne u dzieci pomagają zapobiec trwałej utracie wzroku spowodowanej niedowidzeniem, a członkom rodziny można zaproponować badania wzroku.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/hereditary-congenital-and-juvenile-cataract"
      },
      {
        "slug": "wolfram-syndrome",
        "name": "Zespół Wolframa i spektrum WFS1",
        "diseases": [
          {
            "mondoId": "MONDO:0013673",
            "name": "Zespół podobny do zespołu Wolframa",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Łagodniejsza, dziedziczona autosomalnie dominująco choroba związana z genem WFS1, objawiająca się ubytkiem słuchu, zanikiem nerwu wzrokowego, a czasem cukrzycą.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018105",
            "name": "Zespół Wolframa",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "Postępująca cukrzyca rozpoczynająca się w dzieciństwie i zanik nerwu wzrokowego, często z moczówką prostą, ubytkiem słuchu i objawami neurologicznymi (WFS1, CISD2).",
            "management": "Rozpoznanie ułatwia prowadzenie leczenia cukrzycy oraz umożliwia zaplanowane kontrole okulistyczne, słuchowe, urologiczne i neurologiczne.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/wolfram-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-autonomic-nervous-system-physiology",
        "name": "Abnormal autonomic nervous system physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology"
      },
      {
        "slug": "abnormal-mesentery-morphology",
        "name": "Abnormal mesentery morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-mesentery-morphology"
      },
      {
        "slug": "abnormality-of-the-upper-urinary-tract",
        "name": "Abnormality of the upper urinary tract",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-upper-urinary-tract"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "blind-spot-enlargement",
        "name": "Blind-spot enlargement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/blind-spot-enlargement"
      },
      {
        "slug": "central-apnea",
        "name": "Central apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/central-apnea"
      },
      {
        "slug": "central-diabetes-insipidus",
        "name": "Central diabetes insipidus",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/central-diabetes-insipidus"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "congenital-sensorineural-hearing-impairment",
        "name": "Congenital sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "male-hypogonadism",
        "name": "Decreased function of male gonad",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/male-hypogonadism"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "diabetes-insipidus",
        "name": "Diabetes insipidus",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diabetes-insipidus"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dysuria",
        "name": "Dull burning sensation with urination",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysuria"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "gastrointestinal-dysmotility",
        "name": "Gastrointestinal dysmotility",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gastrointestinal-dysmotility"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "glucose-intolerance",
        "name": "Glucose intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glucose-intolerance"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hydroureter",
        "name": "Hydroureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hydroureter"
      },
      {
        "slug": "impaired-glucose-tolerance",
        "name": "Impaired glucose tolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-glucose-tolerance"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "neurogenic-bladder",
        "name": "Lack of bladder control due to nervous system injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/neurogenic-bladder"
      },
      {
        "slug": "limited-mobility-of-proximal-interphalangeal-joint",
        "name": "Limited mobility of innermost hinge joint",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limited-mobility-of-proximal-interphalangeal-joint"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "low-frequency-sensorineural-hearing-impairment",
        "name": "Low-frequency sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-frequency-sensorineural-hearing-impairment"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "severely-reduced-visual-acuity",
        "name": "Marked vision impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity"
      },
      {
        "slug": "megaloblastic-anemia",
        "name": "Megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/megaloblastic-anemia"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "type-ii-diabetes-mellitus",
        "name": "Noninsulin-dependent diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "peripheral-axonal-neuropathy",
        "name": "Peripheral axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "primary-gonadal-insufficiency",
        "name": "Primary gonadal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/primary-gonadal-insufficiency"
      },
      {
        "slug": "progressive-cerebellar-ataxia",
        "name": "Progressive cerebellar ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia"
      },
      {
        "slug": "progressive-hearing-impairment",
        "name": "Progressive hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-hearing-impairment"
      },
      {
        "slug": "progressive-sensorineural-hearing-impairment",
        "name": "Progressive sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severe-postnatal-growth-retardation",
        "name": "Severe growth delay in children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-postnatal-growth-retardation"
      },
      {
        "slug": "sideroblastic-anemia",
        "name": "Sideroblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/sideroblastic-anemia"
      },
      {
        "slug": "gastric-ulcer",
        "name": "Stomach ulcer",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastric-ulcer"
      },
      {
        "slug": "stroke-like-episode",
        "name": "Stroke-like episode",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/stroke-like-episode"
      },
      {
        "slug": "testicular-atrophy",
        "name": "Testicular degeneration",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/testicular-atrophy"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "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": "abnormality-of-the-urinary-system",
        "name": "Urinary tract abnormalities",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system"
      },
      {
        "slug": "nuclear-cataract",
        "name": "Yellowish cloudy center of lens",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nuclear-cataract"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/actg1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/atp2b2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/cd164"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/ceacam16"
      },
      {
        "slug": "coch",
        "symbol": "COCH",
        "name": "cochlin",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/coch"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "name": "collagen type XI alpha 1 chain",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/col11a1"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "name": "collagen type XI alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/col11a2"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "name": "diaphanous related formin 1",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/diaph1"
      },
      {
        "slug": "eya4",
        "symbol": "EYA4",
        "name": "EYA transcriptional coactivator and phosphatase 4",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/eya4"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/gjb2"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/gjb6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}