{
  "url": "https://dantelabs.com/es/genes/rilpl1",
  "gene": {
    "slug": "rilpl1",
    "symbol": "RILPL1",
    "name": "Rab interacting lysosomal protein like 1",
    "hgnc": "HGNC:26814",
    "summary": null,
    "location": "12q24.31",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ39378"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000188026",
    "entrezId": 353116,
    "omim": [
      "614092"
    ],
    "uniprot": [
      "Q5EBL4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 123470054,
      "end": 123533719,
      "strand": "-",
      "ensemblTranscript": "ENST00000376874.9",
      "refseqTranscript": "NM_178314.5",
      "ensemblProtein": "ENSP00000366070.4",
      "refseqProtein": "NP_847884.2",
      "exons": [
        {
          "start": 123470054,
          "end": 123472682
        },
        {
          "start": 123484180,
          "end": 123484272
        },
        {
          "start": 123485633,
          "end": 123485805
        },
        {
          "start": 123498544,
          "end": 123498765
        },
        {
          "start": 123499418,
          "end": 123499536
        },
        {
          "start": 123523495,
          "end": 123523645
        },
        {
          "start": 123533174,
          "end": 123533719
        }
      ],
      "cds": {
        "start": 123472538,
        "end": 123533482
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 123955925,
      "end": 124018265,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 123001887,
      "end": 124001886,
      "genes": [
        {
          "symbol": "PITPNM2",
          "ensemblId": "ENSG00000090975",
          "biotype": "protein_coding",
          "start": 122983480,
          "end": 123151666,
          "strand": "-",
          "slug": "pitpnm2"
        },
        {
          "symbol": "MPHOSPH9",
          "ensemblId": "ENSG00000051825",
          "biotype": "protein_coding",
          "start": 123152320,
          "end": 123244014,
          "strand": "-",
          "slug": "mphosph9"
        },
        {
          "symbol": "MTRFR",
          "ensemblId": "ENSG00000130921",
          "biotype": "protein_coding",
          "start": 123232142,
          "end": 123258079,
          "strand": "+",
          "slug": "mtrfr"
        },
        {
          "symbol": "CDK2AP1",
          "ensemblId": "ENSG00000111328",
          "biotype": "protein_coding",
          "start": 123250112,
          "end": 123272334,
          "strand": "-",
          "slug": "cdk2ap1"
        },
        {
          "symbol": "SBNO1",
          "ensemblId": "ENSG00000139697",
          "biotype": "protein_coding",
          "start": 123289109,
          "end": 123365220,
          "strand": "-",
          "slug": "sbno1"
        },
        {
          "symbol": "KMT5A",
          "ensemblId": "ENSG00000183955",
          "biotype": "protein_coding",
          "start": 123384087,
          "end": 123409353,
          "strand": "+",
          "slug": "kmt5a"
        },
        {
          "symbol": "RILPL2",
          "ensemblId": "ENSG00000150977",
          "biotype": "protein_coding",
          "start": 123409258,
          "end": 123436756,
          "strand": "-",
          "slug": "rilpl2"
        },
        {
          "symbol": "SNRNP35",
          "ensemblId": "ENSG00000184209",
          "biotype": "protein_coding",
          "start": 123458078,
          "end": 123473154,
          "strand": "+",
          "slug": "snrnp35"
        },
        {
          "symbol": "TMED2",
          "ensemblId": "ENSG00000086598",
          "biotype": "protein_coding",
          "start": 123584514,
          "end": 123598582,
          "strand": "+",
          "slug": "tmed2"
        },
        {
          "symbol": "DDX55",
          "ensemblId": "ENSG00000111364",
          "biotype": "protein_coding",
          "start": 123602073,
          "end": 123620943,
          "strand": "+",
          "slug": "ddx55"
        },
        {
          "symbol": "EIF2B1",
          "ensemblId": "ENSG00000111361",
          "biotype": "protein_coding",
          "start": 123620406,
          "end": 123633766,
          "strand": "-",
          "slug": "eif2b1"
        },
        {
          "symbol": "GTF2H3",
          "ensemblId": "ENSG00000111358",
          "biotype": "protein_coding",
          "start": 123633739,
          "end": 123662604,
          "strand": "+",
          "slug": "gtf2h3"
        },
        {
          "symbol": "TCTN2",
          "ensemblId": "ENSG00000168778",
          "biotype": "protein_coding",
          "start": 123671110,
          "end": 123708403,
          "strand": "+",
          "slug": "tctn2"
        },
        {
          "symbol": "ATP6V0A2",
          "ensemblId": "ENSG00000185344",
          "biotype": "protein_coding",
          "start": 123712334,
          "end": 123761760,
          "strand": "+",
          "slug": "atp6v0a2"
        },
        {
          "symbol": "DNAH10",
          "ensemblId": "ENSG00000197653",
          "biotype": "protein_coding",
          "start": 123761878,
          "end": 123935720,
          "strand": "+",
          "slug": "dnah10"
        },
        {
          "symbol": "CCDC92",
          "ensemblId": "ENSG00000119242",
          "biotype": "protein_coding",
          "start": 123918660,
          "end": 123974253,
          "strand": "-",
          "slug": "ccdc92"
        },
        {
          "symbol": "ZNF664",
          "ensemblId": "ENSG00000179195",
          "biotype": "protein_coding",
          "start": 123971745,
          "end": 124015445,
          "strand": "+",
          "slug": "znf664"
        },
        {
          "symbol": "RFLNA",
          "ensemblId": "ENSG00000178882",
          "biotype": "protein_coding",
          "start": 123973241,
          "end": 124316024,
          "strand": "+",
          "slug": "rflna"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-morphology-of-musculature-of-pharynx",
        "name": "Abnormal morphology of musculature of pharynx",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-musculature-of-pharynx"
      },
      {
        "slug": "abnormality-of-facial-musculature",
        "name": "Abnormality of facial muscles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-facial-musculature"
      },
      {
        "slug": "abnormality-of-masseter-muscle",
        "name": "Abnormality of masseter muscle",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-masseter-muscle"
      },
      {
        "slug": "abnormality-of-orbicularis-oris-muscle",
        "name": "Abnormality of orbicularis oris muscle",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-orbicularis-oris-muscle"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "autophagic-vacuoles",
        "name": "Autophagic vacuoles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autophagic-vacuoles"
      },
      {
        "slug": "bowing-of-the-vocal-cords",
        "name": "Bowing of the vocal cords",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bowing-of-the-vocal-cords"
      },
      {
        "slug": "nasal-dysarthria",
        "name": "Breathy speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nasal-dysarthria"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "distal-upper-limb-amyotrophy",
        "name": "Distal upper limb amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-upper-limb-amyotrophy"
      },
      {
        "slug": "distal-upper-limb-muscle-weakness",
        "name": "Distal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness"
      },
      {
        "slug": "diplopia",
        "name": "Double vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diplopia"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "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": "emg-myopathic-abnormalities",
        "name": "EMG: myopathic abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities"
      },
      {
        "slug": "fatigable-weakness-of-bulbar-muscles",
        "name": "Fatigable weakness of bulbar muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-bulbar-muscles"
      },
      {
        "slug": "fatty-replacement-of-skeletal-muscle",
        "name": "Fatty replacement of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "high-narrow-palate",
        "name": "High, narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-narrow-palate"
      },
      {
        "slug": "impaired-oropharyngeal-swallow-response",
        "name": "Impaired oropharyngeal swallow response",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-oropharyngeal-swallow-response"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "paraplegia",
        "name": "Leg paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/paraplegia"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "myopathic-facies",
        "name": "Myopathic facies",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopathic-facies"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      },
      {
        "slug": "oral-pharyngeal-dysphagia",
        "name": "Oral-pharyngeal dysphagia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oral-pharyngeal-dysphagia"
      },
      {
        "slug": "external-ophthalmoplegia",
        "name": "Paralysis or weakness of muscles within or surrounding outer part of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/external-ophthalmoplegia"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "progressive-distal-muscle-weakness",
        "name": "Progressive distal muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-distal-muscle-weakness"
      },
      {
        "slug": "progressive-ptosis",
        "name": "Progressive drooping of upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-ptosis"
      },
      {
        "slug": "progressive-external-ophthalmoplegia",
        "name": "Progressive external ophthalmoplegia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-external-ophthalmoplegia"
      },
      {
        "slug": "progressive-proximal-muscle-weakness",
        "name": "Progressive proximal muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-proximal-muscle-weakness"
      },
      {
        "slug": "progressive-sensorineural-hearing-impairment",
        "name": "Progressive sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment"
      },
      {
        "slug": "proximal-upper-limb-muscle-weakness",
        "name": "Proximal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/proximal-upper-limb-muscle-weakness"
      },
      {
        "slug": "recurrent-aspiration-pneumonia",
        "name": "Recurrent aspiration pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-aspiration-pneumonia"
      },
      {
        "slug": "rimmed-vacuoles",
        "name": "Rimmed vacuoles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rimmed-vacuoles"
      },
      {
        "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": "tibialis-muscle-weakness",
        "name": "Tibialis muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tibialis-muscle-weakness"
      },
      {
        "slug": "tongue-muscle-weakness",
        "name": "Tongue muscle weakness",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tongue-muscle-weakness"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      },
      {
        "slug": "ophthalmoparesis",
        "name": "Weakness of muscles controlling eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ophthalmoparesis"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      },
      {
        "slug": "vocal-cord-paresis",
        "name": "Weakness of the vocal cords",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vocal-cord-paresis"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}