{
  "url": "https://dantelabs.com/ro/genes/ap5z1",
  "gene": {
    "slug": "ap5z1",
    "symbol": "AP5Z1",
    "name": "adaptor related protein complex 5 subunit zeta 1",
    "hgnc": "HGNC:22197",
    "summary": null,
    "location": "7p22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "SPG48",
      "zeta"
    ],
    "previousSymbols": [
      "KIAA0415"
    ],
    "ensemblId": "ENSG00000242802",
    "entrezId": 9907,
    "omim": [
      "613653"
    ],
    "uniprot": [
      "O43299"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 4775623,
      "end": 4794397,
      "strand": "+",
      "ensemblTranscript": "ENST00000649063.2",
      "refseqTranscript": "NM_014855.3",
      "ensemblProtein": "ENSP00000497815.1",
      "refseqProtein": "NP_055670.1",
      "exons": [
        {
          "start": 4775623,
          "end": 4775756
        },
        {
          "start": 4781175,
          "end": 4781312
        },
        {
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        {
          "start": 4783316,
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        },
        {
          "start": 4783689,
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        },
        {
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        },
        {
          "start": 4784908,
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        },
        {
          "start": 4785415,
          "end": 4785452
        },
        {
          "start": 4785522,
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        },
        {
          "start": 4786250,
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        },
        {
          "start": 4787634,
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        },
        {
          "start": 4788154,
          "end": 4788294
        },
        {
          "start": 4788840,
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        },
        {
          "start": 4789832,
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        },
        {
          "start": 4790459,
          "end": 4790591
        },
        {
          "start": 4790673,
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        },
        {
          "start": 4791115,
          "end": 4794397
        }
      ],
      "cds": {
        "start": 4775716,
        "end": 4791385
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 4815253,
      "end": 4833943,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 4285010,
      "end": 5285009,
      "genes": [
        {
          "symbol": "FOXK1",
          "ensemblId": "ENSG00000164916",
          "biotype": "protein_coding",
          "start": 4682240,
          "end": 4771442,
          "strand": "+",
          "slug": "foxk1"
        },
        {
          "symbol": "RADIL",
          "ensemblId": "ENSG00000157927",
          "biotype": "protein_coding",
          "start": 4797055,
          "end": 4883716,
          "strand": "-",
          "slug": "radil"
        },
        {
          "symbol": "PAPOLB",
          "ensemblId": "ENSG00000218823",
          "biotype": "protein_coding",
          "start": 4857738,
          "end": 4862030,
          "strand": "-",
          "slug": "papolb"
        },
        {
          "symbol": "MMD2",
          "ensemblId": "ENSG00000136297",
          "biotype": "protein_coding",
          "start": 4892248,
          "end": 4959230,
          "strand": "-",
          "slug": "mmd2"
        },
        {
          "symbol": "RBAK-RBAKDN",
          "ensemblId": "ENSG00000272968",
          "biotype": "protein_coding",
          "start": 4983718,
          "end": 5073221,
          "strand": "+",
          "slug": "rbak-rbakdn"
        },
        {
          "symbol": "RBAK",
          "ensemblId": "ENSG00000146587",
          "biotype": "protein_coding",
          "start": 5045821,
          "end": 5069491,
          "strand": "+",
          "slug": "rbak"
        },
        {
          "symbol": "RBAKDN",
          "ensemblId": "ENSG00000273313",
          "biotype": "protein_coding",
          "start": 5072125,
          "end": 5073223,
          "strand": "+",
          "slug": "rbakdn"
        },
        {
          "symbol": "WIPI2",
          "ensemblId": "ENSG00000157954",
          "biotype": "protein_coding",
          "start": 5190182,
          "end": 5233855,
          "strand": "+",
          "slug": "wipi2"
        },
        {
          "symbol": "SLC29A4",
          "ensemblId": "ENSG00000164638",
          "biotype": "protein_coding",
          "start": 5274369,
          "end": 5307194,
          "strand": "+",
          "slug": "slc29a4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Paraplegie spastică ereditară",
        "diseases": [
          {
            "mondoId": "MONDO:0019064",
            "name": "Paraplegia spastică ereditară (toate tipurile)",
            "genes": 66,
            "inheritance": null,
            "description": "Termen generic care cuprinde toate formele de paraplegie spastică ereditară, inclusiv SPG4 (SPAST), cea mai frecventă formă dominantă, precum și SPG5A, SPG6, SPG10, SPG18, SPG30 și SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/hereditary-spastic-paraplegia"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Boală de stocare lizozomală",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Boală de depozitare lizozomală (alte tipuri și tipuri nespecificate)",
            "genes": 59,
            "inheritance": null,
            "description": "Acoperă bolile de depozitare lizozomală fără un raport dedicat, cum ar fi boala Farber și alte tulburări legate de ASAH1, deficiențele de prosaposină (PSAP), deficitul multiplu de sulfataze, mucopolizaharidozele de tip IX și X și boala Dorfman-Chanarin; modul de transmitere variază în funcție de subtip, cel mai adesea fiind autozomal recesiv.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-cervical-spine",
        "name": "Abnormal cervical spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cervical-spine"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hyperintensity-of-cerebral-white-matter-on-mri",
        "name": "Hyperintensity of cerebral white matter on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "periventricular-white-matter-hyperintensities",
        "name": "Periventricular white matter hyperintensities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periventricular-white-matter-hyperintensities"
      },
      {
        "slug": "progressive-spastic-paraplegia",
        "name": "Progressive spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-spastic-paraplegia"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "slug": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "urinary-bladder-sphincter-dysfunction",
        "name": "Urinary bladder sphincter dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-bladder-sphincter-dysfunction"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-based-gait"
      }
    ],
    "related": [
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/abhd16a"
      },
      {
        "slug": "abhd5",
        "symbol": "ABHD5",
        "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/abhd5"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "name": "aspartylglucosaminidase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aga"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aldh18a1"
      },
      {
        "slug": "amfr",
        "symbol": "AMFR",
        "name": "autocrine motility factor receptor",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/amfr"
      },
      {
        "slug": "ap4b1",
        "symbol": "AP4B1",
        "name": "adaptor related protein complex 4 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ap4b1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ap4e1"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ap4m1"
      },
      {
        "slug": "ap4s1",
        "symbol": "AP4S1",
        "name": "adaptor related protein complex 4 subunit sigma 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ap4s1"
      },
      {
        "slug": "arl6ip1",
        "symbol": "ARL6IP1",
        "name": "ARL6 interacting reticulophagy regulator 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arl6ip1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arsa"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}