{
  "url": "https://dantelabs.com/el/genes/c19orf12",
  "gene": {
    "slug": "c19orf12",
    "symbol": "C19orf12",
    "name": "chromosome 19 open reading frame 12",
    "hgnc": "HGNC:25443",
    "summary": null,
    "location": "19q12",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC10922",
      "DKFZP762D096",
      "NBIA4",
      "MPAN"
    ],
    "previousSymbols": [
      "SPG43"
    ],
    "ensemblId": "ENSG00000131943",
    "entrezId": 83636,
    "omim": [
      "614297"
    ],
    "uniprot": [
      "Q9NSK7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "19",
      "start": 29698937,
      "end": 29715261,
      "strand": "-",
      "ensemblTranscript": "ENST00000323670.14",
      "refseqTranscript": "NM_031448.6",
      "ensemblProtein": "ENSP00000313332.9",
      "refseqProtein": "NP_113636.2",
      "exons": [
        {
          "start": 29698937,
          "end": 29702977
        },
        {
          "start": 29708254,
          "end": 29708423
        },
        {
          "start": 29715125,
          "end": 29715261
        }
      ],
      "cds": {
        "start": 29702712,
        "end": 29708413
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "19",
      "start": 30191721,
      "end": 30206364,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 29207099,
      "end": 30207098,
      "genes": [
        {
          "symbol": "UQCRFS1",
          "ensemblId": "ENSG00000169021",
          "biotype": "protein_coding",
          "start": 29202811,
          "end": 29213151,
          "strand": "-",
          "slug": "uqcrfs1"
        },
        {
          "symbol": "VSTM2B",
          "ensemblId": "ENSG00000187135",
          "biotype": "protein_coding",
          "start": 29524739,
          "end": 29564553,
          "strand": "+",
          "slug": "vstm2b"
        },
        {
          "symbol": "POP4",
          "ensemblId": "ENSG00000105171",
          "biotype": "protein_coding",
          "start": 29606283,
          "end": 29617237,
          "strand": "+",
          "slug": "pop4"
        },
        {
          "symbol": "PLEKHF1",
          "ensemblId": "ENSG00000166289",
          "biotype": "protein_coding",
          "start": 29665398,
          "end": 29675497,
          "strand": "+",
          "slug": "plekhf1"
        },
        {
          "symbol": "CCNE1",
          "ensemblId": "ENSG00000105173",
          "biotype": "protein_coding",
          "start": 29811471,
          "end": 29824313,
          "strand": "+",
          "slug": "ccne1"
        },
        {
          "symbol": "URI1",
          "ensemblId": "ENSG00000105176",
          "biotype": "protein_coding",
          "start": 29923644,
          "end": 30017781,
          "strand": "+",
          "slug": "uri1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "neurodegeneration-with-brain-iron-accumulation",
        "name": "Νευροεκφυλισμός με συσσώρευση σιδήρου στον εγκέφαλο (NBIA)",
        "diseases": [
          {
            "mondoId": "MONDO:0018307",
            "name": "Νευροεκφυλισμός με συσσώρευση σιδήρου στον εγκέφαλο",
            "genes": 10,
            "inheritance": null,
            "description": "Μια ομάδα παθήσεων που περιλαμβάνει την PKAN (PANK2), την PLAN (PLA2G6), την MPAN (C19orf12), την BPAN (WDR45), τη νευροφερριτινοπάθεια (FTL) και την ακεροσπλασμιναιμία (CP), με κυρίως υπολειπόμενο τρόπο κληρονομικότητας.",
            "management": "Θεραπεία των συμπτωμάτων της δυστονίας και του παρκινσονισμού, χηλική θεραπεία σιδήρου για την ακεροσπλασμιναιμία και έλεγχος φορέων για συγγενείς στις υπολειπόμενες μορφές.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/neurodegeneration-with-brain-iron-accumulation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-lower-motor-neuron-morphology",
        "name": "Abnormal lower motor neuron morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-lower-motor-neuron-morphology"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "ankle-flexion-contracture",
        "name": "Ankle flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ankle-flexion-contracture"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-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": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "eye-of-the-tiger-anomaly-of-globus-pallidus",
        "name": "Eye of the tiger anomaly of globus pallidus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/eye-of-the-tiger-anomaly-of-globus-pallidus"
      },
      {
        "slug": "generalized-dystonia",
        "name": "Generalized dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-dystonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "impulsivity",
        "name": "Impulsivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/impulsivity"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "lewy-bodies",
        "name": "Lewy bodies",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lewy-bodies"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "motor-axonal-neuropathy",
        "name": "Motor axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-axonal-neuropathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "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"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "oromandibular-dystonia",
        "name": "Oromandibular dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oromandibular-dystonia"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atp13a2"
      },
      {
        "slug": "coasy",
        "symbol": "COASY",
        "name": "Coenzyme A synthase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/coasy"
      },
      {
        "slug": "cp",
        "symbol": "CP",
        "name": "ceruloplasmin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cp"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dcaf17"
      },
      {
        "slug": "fth1",
        "symbol": "FTH1",
        "name": "ferritin heavy chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/fth1"
      },
      {
        "slug": "ftl",
        "symbol": "FTL",
        "name": "ferritin light chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ftl"
      },
      {
        "slug": "pank2",
        "symbol": "PANK2",
        "name": "pantothenate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/pank2"
      },
      {
        "slug": "pla2g6",
        "symbol": "PLA2G6",
        "name": "phospholipase A2 group VI",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/pla2g6"
      },
      {
        "slug": "wdr45",
        "symbol": "WDR45",
        "name": "WD repeat domain 45",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/wdr45"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}