{
  "url": "https://dantelabs.com/el/genes/mcoln1",
  "gene": {
    "slug": "mcoln1",
    "symbol": "MCOLN1",
    "name": "mucolipin TRP cation channel 1",
    "hgnc": "HGNC:13356",
    "summary": null,
    "location": "19p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "TRPML1",
      "ML4",
      "MLIV",
      "MST080",
      "MSTP080",
      "TRPM-L1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000090674",
    "entrezId": 57192,
    "omim": [
      "605248"
    ],
    "uniprot": [
      "Q9GZU1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "19",
      "start": 7522624,
      "end": 7534009,
      "strand": "+",
      "ensemblTranscript": "ENST00000264079.11",
      "refseqTranscript": "NM_020533.3",
      "ensemblProtein": "ENSP00000264079.5",
      "refseqProtein": "NP_065394.1",
      "exons": [
        {
          "start": 7522624,
          "end": 7522781
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        {
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      ],
      "cds": {
        "start": 7522751,
        "end": 7533795
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "19",
      "start": 7587512,
      "end": 7598895,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "MBD3L5",
          "ensemblId": "ENSG00000237247",
          "biotype": "protein_coding",
          "start": 7030578,
          "end": 7033011,
          "strand": "+",
          "slug": "mbd3l5"
        },
        {
          "symbol": "MBD3L4",
          "ensemblId": "ENSG00000205718",
          "biotype": "protein_coding",
          "start": 7037749,
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          "strand": "-",
          "slug": "mbd3l4"
        },
        {
          "symbol": "MBD3L2",
          "ensemblId": "ENSG00000230522",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "mbd3l2"
        },
        {
          "symbol": "MBD3L3",
          "ensemblId": "ENSG00000182315",
          "biotype": "protein_coding",
          "start": 7056207,
          "end": 7069665,
          "strand": "-",
          "slug": "mbd3l3"
        },
        {
          "symbol": "ZNF557",
          "ensemblId": "ENSG00000130544",
          "biotype": "protein_coding",
          "start": 7069416,
          "end": 7096206,
          "strand": "+",
          "slug": "znf557"
        },
        {
          "symbol": "INSR",
          "ensemblId": "ENSG00000171105",
          "biotype": "protein_coding",
          "start": 7112255,
          "end": 7294443,
          "strand": "-",
          "slug": "insr"
        },
        {
          "symbol": "ARHGEF18",
          "ensemblId": "ENSG00000104880",
          "biotype": "protein_coding",
          "start": 7348931,
          "end": 7472485,
          "strand": "+",
          "slug": "arhgef18"
        },
        {
          "symbol": "PEX11G",
          "ensemblId": "ENSG00000104883",
          "biotype": "protein_coding",
          "start": 7476869,
          "end": 7497449,
          "strand": "-",
          "slug": "pex11g"
        },
        {
          "symbol": "SAXO5",
          "ensemblId": "ENSG00000198723",
          "biotype": "protein_coding",
          "start": 7492976,
          "end": 7509030,
          "strand": "+",
          "slug": "saxo5"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267952",
          "biotype": "protein_coding",
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          "strand": "+"
        },
        {
          "symbol": "ZNF358",
          "ensemblId": "ENSG00000198816",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "znf358"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000268614",
          "biotype": "protein_coding",
          "start": 7533595,
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          "strand": "+"
        },
        {
          "symbol": "PNPLA6",
          "ensemblId": "ENSG00000032444",
          "biotype": "protein_coding",
          "start": 7534004,
          "end": 7561764,
          "strand": "+",
          "slug": "pnpla6"
        },
        {
          "symbol": "CAMSAP3",
          "ensemblId": "ENSG00000076826",
          "biotype": "protein_coding",
          "start": 7595826,
          "end": 7618352,
          "strand": "+",
          "slug": "camsap3"
        },
        {
          "symbol": "XAB2",
          "ensemblId": "ENSG00000076924",
          "biotype": "protein_coding",
          "start": 7619523,
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          "strand": "-",
          "slug": "xab2"
        },
        {
          "symbol": "PET100",
          "ensemblId": "ENSG00000229833",
          "biotype": "protein_coding",
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          "slug": "pet100"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000268400",
          "biotype": "protein_coding",
          "start": 7629796,
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        },
        {
          "symbol": "PCP2",
          "ensemblId": "ENSG00000174788",
          "biotype": "protein_coding",
          "start": 7631611,
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          "strand": "-",
          "slug": "pcp2"
        },
        {
          "symbol": "STXBP2",
          "ensemblId": "ENSG00000076944",
          "biotype": "protein_coding",
          "start": 7636772,
          "end": 7647875,
          "strand": "+",
          "slug": "stxbp2"
        },
        {
          "symbol": "RETN",
          "ensemblId": "ENSG00000104918",
          "biotype": "protein_coding",
          "start": 7669044,
          "end": 7670456,
          "strand": "+",
          "slug": "retn"
        },
        {
          "symbol": "MCEMP1",
          "ensemblId": "ENSG00000183019",
          "biotype": "protein_coding",
          "start": 7677056,
          "end": 7679834,
          "strand": "+",
          "slug": "mcemp1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000269711",
          "biotype": "protein_coding",
          "start": 7678501,
          "end": 7682854,
          "strand": "+"
        },
        {
          "symbol": "TRAPPC5",
          "ensemblId": "ENSG00000181029",
          "biotype": "protein_coding",
          "start": 7680823,
          "end": 7687703,
          "strand": "+",
          "slug": "trappc5"
        },
        {
          "symbol": "FCER2",
          "ensemblId": "ENSG00000104921",
          "biotype": "protein_coding",
          "start": 7688758,
          "end": 7702146,
          "strand": "-",
          "slug": "fcer2"
        },
        {
          "symbol": "CLEC4G",
          "ensemblId": "ENSG00000182566",
          "biotype": "protein_coding",
          "start": 7728943,
          "end": 7733906,
          "strand": "-",
          "slug": "clec4g"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288669",
          "biotype": "protein_coding",
          "start": 7728958,
          "end": 7745662,
          "strand": "-"
        },
        {
          "symbol": "CD209",
          "ensemblId": "ENSG00000090659",
          "biotype": "protein_coding",
          "start": 7739993,
          "end": 7747623,
          "strand": "-",
          "slug": "cd209"
        },
        {
          "symbol": "CLEC4M",
          "ensemblId": "ENSG00000104938",
          "biotype": "protein_coding",
          "start": 7763031,
          "end": 7769606,
          "strand": "+",
          "slug": "clec4m"
        },
        {
          "symbol": "EVI5L",
          "ensemblId": "ENSG00000142459",
          "biotype": "protein_coding",
          "start": 7830182,
          "end": 7864980,
          "strand": "+",
          "slug": "evi5l"
        },
        {
          "symbol": "PRR36",
          "ensemblId": "ENSG00000183248",
          "biotype": "protein_coding",
          "start": 7868719,
          "end": 7874674,
          "strand": "-",
          "slug": "prr36"
        },
        {
          "symbol": "LRRC8E",
          "ensemblId": "ENSG00000171017",
          "biotype": "protein_coding",
          "start": 7888500,
          "end": 7902021,
          "strand": "+",
          "slug": "lrrc8e"
        },
        {
          "symbol": "MAP2K7",
          "ensemblId": "ENSG00000076984",
          "biotype": "protein_coding",
          "start": 7903823,
          "end": 7914480,
          "strand": "+",
          "slug": "map2k7"
        },
        {
          "symbol": "TGFBR3L",
          "ensemblId": "ENSG00000260001",
          "biotype": "protein_coding",
          "start": 7914760,
          "end": 7919097,
          "strand": "+",
          "slug": "tgfbr3l"
        },
        {
          "symbol": "SNAPC2",
          "ensemblId": "ENSG00000104976",
          "biotype": "protein_coding",
          "start": 7920314,
          "end": 7923250,
          "strand": "+",
          "slug": "snapc2"
        },
        {
          "symbol": "CTXN1",
          "ensemblId": "ENSG00000178531",
          "biotype": "protein_coding",
          "start": 7924491,
          "end": 7926174,
          "strand": "-",
          "slug": "ctxn1"
        },
        {
          "symbol": "TIMM44",
          "ensemblId": "ENSG00000104980",
          "biotype": "protein_coding",
          "start": 7926715,
          "end": 7943773,
          "strand": "-",
          "slug": "timm44"
        },
        {
          "symbol": "ELAVL1",
          "ensemblId": "ENSG00000066044",
          "biotype": "protein_coding",
          "start": 7958573,
          "end": 8006062,
          "strand": "-",
          "slug": "elavl1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-corneal-dystrophies",
        "name": "Κληρονομικές δυστροφίες κερατοειδούς",
        "diseases": [
          {
            "mondoId": "MONDO:0018102",
            "name": "Δυστροφία κερατοειδούς",
            "genes": 19,
            "inheritance": null,
            "description": "Ομάδα κληρονομικών παθήσεων που επηρεάζουν ένα ή περισσότερα στρώματα του κερατοειδούς, όπως η δυστροφία ενδοθηλίου Fuchs (συχνά συνδεδεμένη με επέκταση επαναλήψεων στο TCF4), οι κοκκώδεις και πλεγματικές δυστροφίες που σχετίζονται με το TGFBI, και σπανιότερα είδη που προκαλούνται από γονίδια όπως τα SLC4A11, COL8A2, ZEB1 και CHST6.",
            "management": "Στους φορείς παραλλαγών του TGFBI συνήθως συνιστάται να αποφεύγουν τη διαθλαστική χειρουργική με laser (LASIK ή PRK), καθώς αυτή μπορεί να επιδεινώσει τα εναποθέματα. Η μεταμόσχευση κερατοειδούς μπορεί να αποκαταστήσει την όραση σε προχωρημένη νόσο.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hereditary-corneal-dystrophies"
      },
      {
        "slug": "mucolipidoses",
        "name": "Μουκολιπιδώσεις (ML II, ML III και ML IV)",
        "diseases": [
          {
            "mondoId": "MONDO:0009653",
            "name": "Μουκολιπιδίωση τύπου IV",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Καθυστέρηση ανάπτυξης, προοδευτική απώλεια όρασης από θολότητα του κερατοειδούς και εκφύλιση του αμφιβληστροειδούς, και χαμηλή γαστρική οξύτητα, που προκαλούνται από παραλλαγές στο MCOLN1· είναι συχνότερη σε άτομα ασκενάζι εβραϊκής καταγωγής.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/mucolipidoses"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Λυσοσωμική αποθησαυριστική νόσος",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Λυσοσωμική αποθησαυριστική νόσος (άλλοι και μη προσδιορισμένοι τύποι)",
            "genes": 59,
            "inheritance": null,
            "description": "Καλύπτει λυσοσωμικές αποθησαυριστικές νόσους χωρίς ειδική αναφορά, όπως η νόσος Farber και άλλες διαταραχές που σχετίζονται με το ASAH1, ελλείψεις προσαπσίνης (PSAP), πολλαπλή ελλειψη σουλφατάσης, μουκοπολυσακχαριδώσεις τύπων IX και X, και η νόσος Dorfman-Chanarin· ο τρόπος κληρονομικότητας διαφέρει ανάλογα με τον υποτύπο, συχνότερα αυτοσωμικός υπολειπόμενος.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-abdomen-morphology",
        "name": "Abdomen abnormality",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-abdomen-morphology"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-nasal-morphology",
        "name": "Abnormal of nasal shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-nasal-morphology"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormality-of-mucopolysaccharide-metabolism",
        "name": "Abnormality of mucopolysaccharide metabolism",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-mucopolysaccharide-metabolism"
      },
      {
        "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": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-abdominal-wall-musculature",
        "name": "Absent/small abdominal wall muscles",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-abdominal-wall-musculature"
      },
      {
        "slug": "achlorhydria",
        "name": "Achlorhydria",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/achlorhydria"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "genu-recurvatum",
        "name": "Back knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/genu-recurvatum"
      },
      {
        "slug": "band-shaped-corneal-dystrophy",
        "name": "Band-shaped corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/band-shaped-corneal-dystrophy"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "cerebral-dysmyelination",
        "name": "Cerebral dysmyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-dysmyelination"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "decreased-light-and-dark-adapted-electroretinogram-amplitude",
        "name": "Decreased light- and dark-adapted electroretinogram amplitude",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/decreased-light-and-dark-adapted-electroretinogram-amplitude"
      },
      {
        "slug": "microdontia",
        "name": "Decreased size of tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microdontia"
      },
      {
        "slug": "biparietal-narrowing",
        "name": "Decreased width of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/biparietal-narrowing"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "developmental-stagnation",
        "name": "Developmental stagnation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/developmental-stagnation"
      },
      {
        "slug": "everted-lower-lip-vermilion",
        "name": "Drooping lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/everted-lower-lip-vermilion"
      },
      {
        "slug": "dysplastic-corpus-callosum",
        "name": "Dysplastic corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysplastic-corpus-callosum"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "hypergastrinemia",
        "name": "Elevated gastrin in the blood",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/hypergastrinemia"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "ganglioside-accumulation",
        "name": "Ganglioside accumulation",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ganglioside-accumulation"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "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": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "opacification-of-the-corneal-stroma",
        "name": "Opacification of the corneal stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "progressive-neurologic-deterioration",
        "name": "Worsening neurological symptoms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration"
      }
    ],
    "related": [
      {
        "slug": "abhd5",
        "symbol": "ABHD5",
        "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/abhd5"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "name": "aspartylglucosaminidase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aga"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ap5z1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arsa"
      },
      {
        "slug": "arsb",
        "symbol": "ARSB",
        "name": "arylsulfatase B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arsb"
      },
      {
        "slug": "arsk",
        "symbol": "ARSK",
        "name": "arylsulfatase family member K",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arsk"
      },
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "name": "N-acylsphingosine amidohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/asah1"
      },
      {
        "slug": "chst6",
        "symbol": "CHST6",
        "name": "carbohydrate sulfotransferase 6",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/chst6"
      },
      {
        "slug": "clcn6",
        "symbol": "CLCN6",
        "name": "Cl-/H+ antiporter 6",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/clcn6"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cln3"
      },
      {
        "slug": "cln5",
        "symbol": "CLN5",
        "name": "CLN5 lysosomal BMP synthase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cln5"
      },
      {
        "slug": "cln6",
        "symbol": "CLN6",
        "name": "CLN6 transmembrane ER protein",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cln6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}