{
  "url": "https://dantelabs.com/cs/genes/mfsd8",
  "gene": {
    "slug": "mfsd8",
    "symbol": "MFSD8",
    "name": "major facilitator superfamily domain containing 8",
    "hgnc": "HGNC:28486",
    "summary": null,
    "location": "4q28.2",
    "locusType": "gene with protein product",
    "aliases": [
      "SLC74A1",
      "MGC33302"
    ],
    "previousSymbols": [
      "CLN7"
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    "ensemblId": "ENSG00000164073",
    "entrezId": 256471,
    "omim": [
      "611124"
    ],
    "uniprot": [
      "Q8NHS3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 127917805,
      "end": 127965173,
      "strand": "-",
      "ensemblTranscript": "ENST00000641686.2",
      "refseqTranscript": "NM_001371596.2",
      "ensemblProtein": "ENSP00000493218.2",
      "refseqProtein": "NP_001358525.1",
      "exons": [
        {
          "start": 127917805,
          "end": 127920836
        },
        {
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        },
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        },
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        },
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          "end": 127965173
        }
      ],
      "cds": {
        "start": 127920630,
        "end": 127965133
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 128838960,
      "end": 128887150,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 127441489,
      "end": 128441488,
      "genes": [
        {
          "symbol": "INTU",
          "ensemblId": "ENSG00000164066",
          "biotype": "protein_coding",
          "start": 127623271,
          "end": 127726737,
          "strand": "+",
          "slug": "intu"
        },
        {
          "symbol": "SLC25A31",
          "ensemblId": "ENSG00000151475",
          "biotype": "protein_coding",
          "start": 127730400,
          "end": 127774292,
          "strand": "+",
          "slug": "slc25a31"
        },
        {
          "symbol": "HSPA4L",
          "ensemblId": "ENSG00000164070",
          "biotype": "protein_coding",
          "start": 127781821,
          "end": 127840733,
          "strand": "+",
          "slug": "hspa4l"
        },
        {
          "symbol": "PLK4",
          "ensemblId": "ENSG00000142731",
          "biotype": "protein_coding",
          "start": 127880890,
          "end": 127899224,
          "strand": "+",
          "slug": "plk4"
        },
        {
          "symbol": "ABHD18",
          "ensemblId": "ENSG00000164074",
          "biotype": "protein_coding",
          "start": 127965252,
          "end": 128039953,
          "strand": "+",
          "slug": "abhd18"
        },
        {
          "symbol": "LARP1B",
          "ensemblId": "ENSG00000138709",
          "biotype": "protein_coding",
          "start": 128060638,
          "end": 128222931,
          "strand": "+",
          "slug": "larp1b"
        },
        {
          "symbol": "PGRMC2",
          "ensemblId": "ENSG00000164040",
          "biotype": "protein_coding",
          "start": 128268172,
          "end": 128288834,
          "strand": "-",
          "slug": "pgrmc2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "age-related-macular-degeneration",
        "name": "Age-Related Macular Degeneration",
        "diseases": [
          {
            "mondoId": "MONDO:0005150",
            "name": "Age-Related Macular Degeneration",
            "genes": 1,
            "inheritance": null,
            "description": "A progressive degeneration of the macula in older adults, occurring in dry (atrophic) and wet (neovascular) forms.",
            "management": "AREDS2 supplementation; anti-VEGF injections (ranibizumab, aflibercept) for wet AMD; pegcetacoplan (Syfovre) for geographic atrophy; avacincaptad (Izervay) for GA; smoking cessation; blood pressure management; UV protection; low-vision rehabilitation",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/age-related-macular-degeneration"
      },
      {
        "slug": "neuronal-ceroid-lipofuscinosis",
        "name": "Neuronal Ceroid Lipofuscinosis",
        "diseases": [
          {
            "mondoId": "MONDO:0015674",
            "name": "Late Infantile Neuronal Ceroid Lipofuscinosis",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0016295",
            "name": "Neuronal Ceroid Lipofuscinosis",
            "genes": 13,
            "inheritance": "autosomal-recessive",
            "description": "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/neuronal-ceroid-lipofuscinosis"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Lysosomal Storage Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Lysosomal storage disease (other and unspecified types)",
            "genes": 59,
            "inheritance": null,
            "description": "Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "abnormal-full-field-electroretinogram",
        "name": "Abnormal full-field electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "bull-s-eye-maculopathy",
        "name": "Bull's eye maculopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bull-s-eye-maculopathy"
      },
      {
        "slug": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "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": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "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": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "macular-dystrophy",
        "name": "Macular dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macular-dystrophy"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "metamorphopsia",
        "name": "Metamorphopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metamorphopsia"
      },
      {
        "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"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "neurodegeneration",
        "name": "Ongoing loss of nerve cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/neurodegeneration"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "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": "perifoveal-ring-of-hyperautofluorescence",
        "name": "Perifoveal ring of hyperautofluorescence",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/perifoveal-ring-of-hyperautofluorescence"
      },
      {
        "slug": "pigmentary-retinopathy",
        "name": "Pigmentary retinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/pigmentary-retinopathy"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "red-green-dyschromatopsia",
        "name": "Red green color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/red-green-dyschromatopsia"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "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": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "cln5",
        "symbol": "CLN5",
        "name": "CLN5 lysosomal BMP synthase",
        "shared": 3,
        "url": "https://dantelabs.com/cs/genes/cln5"
      },
      {
        "slug": "cln6",
        "symbol": "CLN6",
        "name": "CLN6 transmembrane ER protein",
        "shared": 3,
        "url": "https://dantelabs.com/cs/genes/cln6"
      },
      {
        "slug": "clcn6",
        "symbol": "CLCN6",
        "name": "Cl-/H+ antiporter 6",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/clcn6"
      },
      {
        "slug": "cln3",
        "symbol": "CLN3",
        "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/cln3"
      },
      {
        "slug": "cln8",
        "symbol": "CLN8",
        "name": "CLN8 transmembrane ER and ERGIC protein",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/cln8"
      },
      {
        "slug": "ctsd",
        "symbol": "CTSD",
        "name": "cathepsin D",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/ctsd"
      },
      {
        "slug": "ctsf",
        "symbol": "CTSF",
        "name": "cathepsin F",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/ctsf"
      },
      {
        "slug": "dnajc5",
        "symbol": "DNAJC5",
        "name": "DnaJ heat shock protein family (Hsp40) member C5",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/dnajc5"
      },
      {
        "slug": "grn",
        "symbol": "GRN",
        "name": "granulin precursor",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/grn"
      },
      {
        "slug": "kctd7",
        "symbol": "KCTD7",
        "name": "potassium channel tetramerization domain containing 7",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/kctd7"
      },
      {
        "slug": "ppt1",
        "symbol": "PPT1",
        "name": "palmitoyl-protein thioesterase 1",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/ppt1"
      },
      {
        "slug": "tpp1",
        "symbol": "TPP1",
        "name": "tripeptidyl peptidase 1",
        "shared": 2,
        "url": "https://dantelabs.com/cs/genes/tpp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}