{
  "url": "https://dantelabs.com/hu/genes/rnf168",
  "gene": {
    "slug": "rnf168",
    "symbol": "RNF168",
    "name": "ring finger protein 168",
    "hgnc": "HGNC:26661",
    "summary": null,
    "location": "3q29",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ35794"
    ],
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    "ensemblId": "ENSG00000163961",
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      "612688"
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      "Q8IYW5"
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      "strand": "-",
      "ensemblTranscript": "ENST00000318037.3",
      "refseqTranscript": "NM_152617.4",
      "ensemblProtein": "ENSP00000320898.3",
      "refseqProtein": "NP_689830.2",
      "exons": [
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        },
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    },
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      "build": "GRCh37",
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      "strand": "-"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "TFRC",
          "ensemblId": "ENSG00000072274",
          "biotype": "protein_coding",
          "start": 196012511,
          "end": 196082162,
          "strand": "-",
          "slug": "tfrc"
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        {
          "symbol": "ZDHHC19",
          "ensemblId": "ENSG00000163958",
          "biotype": "protein_coding",
          "start": 196197452,
          "end": 196211437,
          "strand": "-",
          "slug": "zdhhc19"
        },
        {
          "symbol": "SLC51A",
          "ensemblId": "ENSG00000163959",
          "biotype": "protein_coding",
          "start": 196211487,
          "end": 196244766,
          "strand": "+",
          "slug": "slc51a"
        },
        {
          "symbol": "PCYT1A",
          "ensemblId": "ENSG00000161217",
          "biotype": "protein_coding",
          "start": 196214222,
          "end": 196287957,
          "strand": "-",
          "slug": "pcyt1a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272741",
          "biotype": "protein_coding",
          "start": 196248230,
          "end": 196318222,
          "strand": "-"
        },
        {
          "symbol": "DYNLT2B",
          "ensemblId": "ENSG00000213123",
          "biotype": "protein_coding",
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          "end": 196318328,
          "strand": "-",
          "slug": "dynlt2b"
        },
        {
          "symbol": "TM4SF19-DYNLT2B",
          "ensemblId": "ENSG00000273331",
          "biotype": "protein_coding",
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          "end": 196338373,
          "strand": "-",
          "slug": "tm4sf19-dynlt2b"
        },
        {
          "symbol": "TM4SF19",
          "ensemblId": "ENSG00000145107",
          "biotype": "protein_coding",
          "start": 196319342,
          "end": 196338604,
          "strand": "-",
          "slug": "tm4sf19"
        },
        {
          "symbol": "UBXN7",
          "ensemblId": "ENSG00000163960",
          "biotype": "protein_coding",
          "start": 196347659,
          "end": 196432476,
          "strand": "-",
          "slug": "ubxn7"
        },
        {
          "symbol": "SMCO1",
          "ensemblId": "ENSG00000214097",
          "biotype": "protein_coding",
          "start": 196506877,
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          "strand": "-",
          "slug": "smco1"
        },
        {
          "symbol": "WDR53",
          "ensemblId": "ENSG00000185798",
          "biotype": "protein_coding",
          "start": 196552217,
          "end": 196569263,
          "strand": "-",
          "slug": "wdr53"
        },
        {
          "symbol": "FBXO45",
          "ensemblId": "ENSG00000174013",
          "biotype": "protein_coding",
          "start": 196568611,
          "end": 196589059,
          "strand": "+",
          "slug": "fbxo45"
        },
        {
          "symbol": "NRROS",
          "ensemblId": "ENSG00000174004",
          "biotype": "protein_coding",
          "start": 196639676,
          "end": 196707522,
          "strand": "+",
          "slug": "nrros"
        },
        {
          "symbol": "PIGX",
          "ensemblId": "ENSG00000163964",
          "biotype": "protein_coding",
          "start": 196639775,
          "end": 196736016,
          "strand": "+",
          "slug": "pigx"
        },
        {
          "symbol": "CEP19",
          "ensemblId": "ENSG00000174007",
          "biotype": "protein_coding",
          "start": 196706268,
          "end": 196712603,
          "strand": "-",
          "slug": "cep19"
        },
        {
          "symbol": "PAK2",
          "ensemblId": "ENSG00000180370",
          "biotype": "protein_coding",
          "start": 196739743,
          "end": 196832647,
          "strand": "+",
          "slug": "pak2"
        },
        {
          "symbol": "SENP5",
          "ensemblId": "ENSG00000119231",
          "biotype": "protein_coding",
          "start": 196867856,
          "end": 196934718,
          "strand": "+",
          "slug": "senp5"
        },
        {
          "symbol": "NCBP2",
          "ensemblId": "ENSG00000114503",
          "biotype": "protein_coding",
          "start": 196935402,
          "end": 196942594,
          "strand": "-",
          "slug": "ncbp2"
        },
        {
          "symbol": "NCBP2AS2",
          "ensemblId": "ENSG00000270170",
          "biotype": "protein_coding",
          "start": 196942674,
          "end": 196943543,
          "strand": "+",
          "slug": "ncbp2as2"
        },
        {
          "symbol": "PIGZ",
          "ensemblId": "ENSG00000119227",
          "biotype": "protein_coding",
          "start": 196946344,
          "end": 196969060,
          "strand": "-",
          "slug": "pigz"
        },
        {
          "symbol": "MELTF",
          "ensemblId": "ENSG00000163975",
          "biotype": "protein_coding",
          "start": 196980590,
          "end": 197029874,
          "strand": "-",
          "slug": "meltf"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "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",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/autosomal-recessive-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-pulmonary-interstitial-morphology",
        "name": "Abnormality in area between air sacs in lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pulmonary-interstitial-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "bronchitis",
        "name": "Bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchitis"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "chromosomal-breakage-induced-by-ionizing-radiation",
        "name": "Chromosomal breakage induced by ionizing radiation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chromosomal-breakage-induced-by-ionizing-radiation"
      },
      {
        "slug": "chronic-sinusitis",
        "name": "Chronic sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-sinusitis"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "decreased-circulating-iga-concentration",
        "name": "Decreased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "demyelinating-peripheral-neuropathy",
        "name": "Demyelinating peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "elevated-circulating-alpha-fetoprotein-concentration",
        "name": "Elevated circulating alpha-fetoprotein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alpha-fetoprotein-concentration"
      },
      {
        "slug": "enuresis-nocturna",
        "name": "Enuresis nocturna",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enuresis-nocturna"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "generalized-lymphadenopathy",
        "name": "Generalized swelling of lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-lymphadenopathy"
      },
      {
        "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": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "increased-sensitivity-to-ionizing-radiation",
        "name": "Increased sensitivity to ionizing radiation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-sensitivity-to-ionizing-radiation"
      },
      {
        "slug": "intraventricular-hemorrhage",
        "name": "Intraventricular hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intraventricular-hemorrhage"
      },
      {
        "slug": "otitis-media",
        "name": "Middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/otitis-media"
      },
      {
        "slug": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "neonatal-asphyxia",
        "name": "Neonatal asphyxia",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-asphyxia"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "poor-hand-eye-coordination",
        "name": "Poor hand-eye coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-hand-eye-coordination"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-sinusitis"
      },
      {
        "slug": "recurrent-viral-infections",
        "name": "Recurrent viral infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-viral-infections"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "conjunctival-telangiectasia",
        "name": "Small dilated blood vessels near membrane covering front of eye and eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conjunctival-telangiectasia"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "telangiectasia",
        "name": "Spider veins",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/telangiectasia"
      },
      {
        "slug": "restrictive-ventilatory-defect",
        "name": "Stiff lung or chest wall causing decreased lung volume",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ahi1"
      },
      {
        "slug": "ano10",
        "symbol": "ANO10",
        "name": "anoctamin 10",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ano10"
      },
      {
        "slug": "atcay",
        "symbol": "ATCAY",
        "name": "ATCAY kinesin light chain interacting caytaxin",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atcay"
      },
      {
        "slug": "atg7",
        "symbol": "ATG7",
        "name": "autophagy related 7",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atg7"
      },
      {
        "slug": "atp8a2",
        "symbol": "ATP8A2",
        "name": "ATPase phospholipid transporting 8A2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp8a2"
      },
      {
        "slug": "ca8",
        "symbol": "CA8",
        "name": "carbonic anhydrase 8 (inactive)",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ca8"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cc2d2a"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cep290"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "name": "centrosomal protein 41",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cep41"
      },
      {
        "slug": "coa7",
        "symbol": "COA7",
        "name": "cytochrome c oxidase assembly factor 7",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/coa7"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/coq8a"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "name": "centrosome and spindle pole associated protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cspp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}