{
  "url": "https://dantelabs.com/hu/genes/hycc1",
  "gene": {
    "slug": "hycc1",
    "symbol": "HYCC1",
    "name": "hyccin PI4KA lipid kinase complex subunit 1",
    "hgnc": "HGNC:24587",
    "summary": null,
    "location": "7p15.3",
    "locusType": "gene with protein product",
    "aliases": [
      "DRCTNNB1A",
      "HCC",
      "hyccin"
    ],
    "previousSymbols": [
      "FAM126A"
    ],
    "ensemblId": "ENSG00000122591",
    "entrezId": 84668,
    "omim": [
      "610531"
    ],
    "uniprot": [
      "Q9BYI3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 22934211,
      "end": 23014130,
      "strand": "-",
      "ensemblTranscript": "ENST00000432176.7",
      "refseqTranscript": "NM_032581.4",
      "ensemblProtein": "ENSP00000403396.2",
      "refseqProtein": "NP_115970.2",
      "exons": [
        {
          "start": 22934211,
          "end": 22946163
        },
        {
          "start": 22960256,
          "end": 22960415
        },
        {
          "start": 22961235,
          "end": 22961322
        },
        {
          "start": 22964415,
          "end": 22964531
        },
        {
          "start": 22976210,
          "end": 22976305
        },
        {
          "start": 22976693,
          "end": 22976808
        },
        {
          "start": 22977341,
          "end": 22977421
        },
        {
          "start": 22978269,
          "end": 22978448
        },
        {
          "start": 22983944,
          "end": 22984045
        },
        {
          "start": 22991061,
          "end": 22991139
        },
        {
          "start": 23013925,
          "end": 23014130
        }
      ],
      "cds": {
        "start": 22945589,
        "end": 22991111
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 22980878,
      "end": 23053749,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 22474171,
      "end": 23474170,
      "genes": [
        {
          "symbol": "STEAP1B",
          "ensemblId": "ENSG00000105889",
          "biotype": "protein_coding",
          "start": 22416932,
          "end": 22727789,
          "strand": "-",
          "slug": "steap1b"
        },
        {
          "symbol": "IL6",
          "ensemblId": "ENSG00000136244",
          "biotype": "protein_coding",
          "start": 22725884,
          "end": 22732002,
          "strand": "+",
          "slug": "il6"
        },
        {
          "symbol": "TOMM7",
          "ensemblId": "ENSG00000196683",
          "biotype": "protein_coding",
          "start": 22812628,
          "end": 22822891,
          "strand": "-",
          "slug": "tomm7"
        },
        {
          "symbol": "KLHL7",
          "ensemblId": "ENSG00000122550",
          "biotype": "protein_coding",
          "start": 23105729,
          "end": 23177914,
          "strand": "+",
          "slug": "klhl7"
        },
        {
          "symbol": "NUP42",
          "ensemblId": "ENSG00000136243",
          "biotype": "protein_coding",
          "start": 23181804,
          "end": 23201011,
          "strand": "+",
          "slug": "nup42"
        },
        {
          "symbol": "GPNMB",
          "ensemblId": "ENSG00000136235",
          "biotype": "protein_coding",
          "start": 23235967,
          "end": 23275111,
          "strand": "+",
          "slug": "gpnmb"
        },
        {
          "symbol": "MALSU1",
          "ensemblId": "ENSG00000156928",
          "biotype": "protein_coding",
          "start": 23298739,
          "end": 23311729,
          "strand": "+",
          "slug": "malsu1"
        },
        {
          "symbol": "IGF2BP3",
          "ensemblId": "ENSG00000136231",
          "biotype": "protein_coding",
          "start": 23308571,
          "end": 23470833,
          "strand": "-",
          "slug": "igf2bp3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies",
        "name": "Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies",
        "diseases": [
          {
            "mondoId": "MONDO:0012514",
            "name": "Hypomyelinating leukodystrophy 5 (HYCC1)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies"
      },
      {
        "slug": "leukodystrophy",
        "name": "Other Inherited Leukodystrophies",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrophy (other and unspecified types)",
            "genes": 80,
            "inheritance": null,
            "description": "Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.",
            "management": "Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormal-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "cerebral-hypomyelination",
        "name": "Cerebral hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-hypomyelination"
      },
      {
        "slug": "cerebral-white-matter-atrophy",
        "name": "Cerebral white matter atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-white-matter-atrophy"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-brainstem-auditory-evoked-response-conduction-time",
        "name": "Delayed brainstem auditory evoked response conduction time",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-brainstem-auditory-evoked-response-conduction-time"
      },
      {
        "slug": "delayed-somatosensory-central-conduction-time",
        "name": "Delayed somatosensory central conduction time",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-somatosensory-central-conduction-time"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "lower-limb-amyotrophy",
        "name": "Lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-amyotrophy"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "onion-bulb-formation",
        "name": "Onion bulb formation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/onion-bulb-formation"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polyneuropathy"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "truncal-titubation",
        "name": "Truncal titubation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/truncal-titubation"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aldh3a2"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arsa"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "name": "aspartoacylase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aspa"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp11a"
      },
      {
        "slug": "clcn2",
        "symbol": "CLCN2",
        "name": "chloride voltage-gated channel 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/clcn2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}