{
  "url": "https://dantelabs.com/el/genes/atl3",
  "gene": {
    "slug": "atl3",
    "symbol": "ATL3",
    "name": "atlastin GTPase 3",
    "hgnc": "HGNC:24526",
    "summary": null,
    "location": "11q13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "DKFZP564J0863"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000184743",
    "entrezId": 25923,
    "omim": [
      "609369"
    ],
    "uniprot": [
      "Q6DD88"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 63624087,
      "end": 63671376,
      "strand": "-",
      "ensemblTranscript": "ENST00000398868.8",
      "refseqTranscript": "NM_015459.5",
      "ensemblProtein": "ENSP00000381844.3",
      "refseqProtein": "NP_056274.3",
      "exons": [
        {
          "start": 63624087,
          "end": 63629405
        },
        {
          "start": 63631040,
          "end": 63631471
        },
        {
          "start": 63633026,
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        },
        {
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        },
        {
          "start": 63636207,
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        },
        {
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        },
        {
          "start": 63644169,
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        },
        {
          "start": 63646507,
          "end": 63646563
        },
        {
          "start": 63651936,
          "end": 63651986
        },
        {
          "start": 63652471,
          "end": 63652575
        },
        {
          "start": 63658761,
          "end": 63658904
        },
        {
          "start": 63659038,
          "end": 63659252
        },
        {
          "start": 63671290,
          "end": 63671376
        }
      ],
      "cds": {
        "start": 63629319,
        "end": 63671335
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 63391559,
      "end": 63439393,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 63147732,
      "end": 64147731,
      "genes": [
        {
          "symbol": "SLC22A25",
          "ensemblId": "ENSG00000196600",
          "biotype": "protein_coding",
          "start": 63158437,
          "end": 63243788,
          "strand": "-",
          "slug": "slc22a25"
        },
        {
          "symbol": "SLC22A10",
          "ensemblId": "ENSG00000184999",
          "biotype": "protein_coding",
          "start": 63268022,
          "end": 63311874,
          "strand": "+",
          "slug": "slc22a10"
        },
        {
          "symbol": "SLC22A9",
          "ensemblId": "ENSG00000149742",
          "biotype": "protein_coding",
          "start": 63369217,
          "end": 63411798,
          "strand": "+",
          "slug": "slc22a9"
        },
        {
          "symbol": "PLAAT5",
          "ensemblId": "ENSG00000168004",
          "biotype": "protein_coding",
          "start": 63461404,
          "end": 63491228,
          "strand": "-",
          "slug": "plaat5"
        },
        {
          "symbol": "LGALS12",
          "ensemblId": "ENSG00000133317",
          "biotype": "protein_coding",
          "start": 63505966,
          "end": 63519767,
          "strand": "+",
          "slug": "lgals12"
        },
        {
          "symbol": "PLAAT4",
          "ensemblId": "ENSG00000133321",
          "biotype": "protein_coding",
          "start": 63529451,
          "end": 63549076,
          "strand": "+",
          "slug": "plaat4"
        },
        {
          "symbol": "PLAAT2",
          "ensemblId": "ENSG00000133328",
          "biotype": "protein_coding",
          "start": 63552770,
          "end": 63564157,
          "strand": "-",
          "slug": "plaat2"
        },
        {
          "symbol": "PLAAT3",
          "ensemblId": "ENSG00000176485",
          "biotype": "protein_coding",
          "start": 63569750,
          "end": 63616901,
          "strand": "-",
          "slug": "plaat3"
        },
        {
          "symbol": "RTN3",
          "ensemblId": "ENSG00000133318",
          "biotype": "protein_coding",
          "start": 63681444,
          "end": 63759909,
          "strand": "+",
          "slug": "rtn3"
        },
        {
          "symbol": "ZFTA",
          "ensemblId": "ENSG00000188070",
          "biotype": "protein_coding",
          "start": 63759892,
          "end": 63769752,
          "strand": "-",
          "slug": "zfta"
        },
        {
          "symbol": "SPINDOC",
          "ensemblId": "ENSG00000168005",
          "biotype": "protein_coding",
          "start": 63813405,
          "end": 63827718,
          "strand": "+",
          "slug": "spindoc"
        },
        {
          "symbol": "MARK2",
          "ensemblId": "ENSG00000072518",
          "biotype": "protein_coding",
          "start": 63838852,
          "end": 63911020,
          "strand": "+",
          "slug": "mark2"
        },
        {
          "symbol": "RCOR2",
          "ensemblId": "ENSG00000167771",
          "biotype": "protein_coding",
          "start": 63910992,
          "end": 63919787,
          "strand": "-",
          "slug": "rcor2"
        },
        {
          "symbol": "NAA40",
          "ensemblId": "ENSG00000110583",
          "biotype": "protein_coding",
          "start": 63938669,
          "end": 63957324,
          "strand": "+",
          "slug": "naa40"
        },
        {
          "symbol": "COX8A",
          "ensemblId": "ENSG00000176340",
          "biotype": "protein_coding",
          "start": 63974579,
          "end": 63976543,
          "strand": "+",
          "slug": "cox8a"
        },
        {
          "symbol": "OTUB1",
          "ensemblId": "ENSG00000167770",
          "biotype": "protein_coding",
          "start": 63985853,
          "end": 64001811,
          "strand": "+",
          "slug": "otub1"
        },
        {
          "symbol": "MACROD1",
          "ensemblId": "ENSG00000133315",
          "biotype": "protein_coding",
          "start": 63998553,
          "end": 64166501,
          "strand": "-",
          "slug": "macrod1"
        },
        {
          "symbol": "FLRT1",
          "ensemblId": "ENSG00000126500",
          "biotype": "protein_coding",
          "start": 64035757,
          "end": 64119403,
          "strand": "+",
          "slug": "flrt1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-sensory-and-autonomic-neuropathies",
        "name": "Κληρονομικές αισθητικές και αυτονομές νευροπάθειες (συμπεριλαμβανομένης της Οικογενούς Δυσαυτονομίας)",
        "diseases": [
          {
            "mondoId": "MONDO:0015364",
            "name": "Κληρονομική αισθητική και αυτονομή νευροπάθεια",
            "genes": 21,
            "inheritance": null,
            "description": "Μια ομάδα νευροπαθειών, που περιλαμβάνει την οικογενή δυσαυτονομία (ELP1), την HSAN1 (SPTLC1/SPTLC2), την HSAN2 (WNK1, RETREG1) και τη συγγενή αναλγησία (NTRK1, SCN9A, PRDM12). Οι περισσότερες από αυτές είναι υπολειπόμενες, ενώ η HSAN1 είναι επικρατής.",
            "management": "Προστασία από απαρατήρητους τραυματισμούς, εγκαύματα και λοιμώξεις, διαχείριση των αυτονομών συμπτωμάτων και έλεγχος φορέα για συγγενείς (η οικογενής δυσαυτονομία περιλαμβάνεται στον έλεγχο φορέων Ασκενάζι Εβραϊκής καταγωγής).",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hereditary-sensory-and-autonomic-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-imbalance",
        "name": "Abnormality of balance",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-imbalance"
      },
      {
        "slug": "abnormality-of-the-autonomic-nervous-system",
        "name": "Abnormality of the autonomic nervous system",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-autonomic-nervous-system"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "osteolytic-defects-of-the-phalanges-of-the-hand",
        "name": "Breakdown of small bones of fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteolytic-defects-of-the-phalanges-of-the-hand"
      },
      {
        "slug": "hallux-valgus",
        "name": "Bunion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hallux-valgus"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "decreased-amplitude-of-sensory-action-potentials",
        "name": "Decreased amplitude of sensory action potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-amplitude-of-sensory-action-potentials"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "impaired-distal-tactile-sensation",
        "name": "Decreased touch sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-distal-tactile-sensation"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "emg-slow-motor-conduction",
        "name": "EMG: slow motor conduction",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emg-slow-motor-conduction"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "hyporeflexia-of-lower-limbs",
        "name": "Hyporeflexia of lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia-of-lower-limbs"
      },
      {
        "slug": "impaired-ability-to-dress-oneself",
        "name": "Impaired ability to dress oneself",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-ability-to-dress-oneself"
      },
      {
        "slug": "impaired-pain-sensation",
        "name": "Impaired pain sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-pain-sensation"
      },
      {
        "slug": "impaired-temperature-sensation",
        "name": "Impaired temperature sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-temperature-sensation"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "hypohidrosis-or-hyperhidrosis",
        "name": "Lack of sweating or excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypohidrosis-or-hyperhidrosis"
      },
      {
        "slug": "limb-pain",
        "name": "Limb pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-pain"
      },
      {
        "slug": "metatarsal-fracture",
        "name": "Metatarsal fracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metatarsal-fracture"
      },
      {
        "slug": "motor-axonal-neuropathy",
        "name": "Motor axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-axonal-neuropathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neuropathic-arthropathy",
        "name": "Neuropathic arthropathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neuropathic-arthropathy"
      },
      {
        "slug": "hypoesthesia",
        "name": "Numbness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoesthesia"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "pain-insensitivity",
        "name": "Pain insensitivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pain-insensitivity"
      },
      {
        "slug": "penetrating-foot-ulcers",
        "name": "Penetrating foot ulcers",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/penetrating-foot-ulcers"
      },
      {
        "slug": "poor-wound-healing",
        "name": "Poor wound healing",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-wound-healing"
      },
      {
        "slug": "sensory-axonal-neuropathy",
        "name": "Sensory axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensory-axonal-neuropathy"
      },
      {
        "slug": "pathologic-fracture",
        "name": "Spontaneous fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pathologic-fracture"
      },
      {
        "slug": "trophic-changes-related-to-pain",
        "name": "Trophic changes related to pain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/trophic-changes-related-to-pain"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aifm1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atl1"
      },
      {
        "slug": "clcf1",
        "symbol": "CLCF1",
        "name": "cardiotrophin like cytokine factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/clcf1"
      },
      {
        "slug": "crlf1",
        "symbol": "CRLF1",
        "name": "cytokine receptor like factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/crlf1"
      },
      {
        "slug": "dnmt1",
        "symbol": "DNMT1",
        "name": "DNA methyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dnmt1"
      },
      {
        "slug": "dst",
        "symbol": "DST",
        "name": "dystonin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dst"
      },
      {
        "slug": "elp1",
        "symbol": "ELP1",
        "name": "elongator acetyltransferase complex subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/elp1"
      },
      {
        "slug": "kif1a",
        "symbol": "KIF1A",
        "name": "kinesin family member 1A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/kif1a"
      },
      {
        "slug": "klhl7",
        "symbol": "KLHL7",
        "name": "kelch like family member 7",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/klhl7"
      },
      {
        "slug": "ngf",
        "symbol": "NGF",
        "name": "nerve growth factor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ngf"
      },
      {
        "slug": "ntrk1",
        "symbol": "NTRK1",
        "name": "neurotrophic receptor tyrosine kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ntrk1"
      },
      {
        "slug": "prdm12",
        "symbol": "PRDM12",
        "name": "PR/SET domain 12",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/prdm12"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}