{
  "url": "https://dantelabs.com/el/genes/c1qc",
  "gene": {
    "slug": "c1qc",
    "symbol": "C1QC",
    "name": "complement C1q C chain",
    "hgnc": "HGNC:1245",
    "summary": null,
    "location": "1p36.12",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "C1QG"
    ],
    "ensemblId": "ENSG00000159189",
    "entrezId": 714,
    "omim": [
      "120575"
    ],
    "uniprot": [
      "P02747"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 22643633,
      "end": 22648108,
      "strand": "+",
      "ensemblTranscript": "ENST00000374640.9",
      "refseqTranscript": "NM_172369.5",
      "ensemblProtein": "ENSP00000363771.4",
      "refseqProtein": "NP_758957.2",
      "exons": [
        {
          "start": 22643633,
          "end": 22643714
        },
        {
          "start": 22644011,
          "end": 22644204
        },
        {
          "start": 22647227,
          "end": 22648108
        }
      ],
      "cds": {
        "start": 22644024,
        "end": 22647783
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 22970123,
      "end": 22974603,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 22145871,
      "end": 23145870,
      "genes": [
        {
          "symbol": "ZBTB40",
          "ensemblId": "ENSG00000184677",
          "biotype": "protein_coding",
          "start": 22428838,
          "end": 22531157,
          "strand": "+",
          "slug": "zbtb40"
        },
        {
          "symbol": "EPHA8",
          "ensemblId": "ENSG00000070886",
          "biotype": "protein_coding",
          "start": 22563461,
          "end": 22603595,
          "strand": "+",
          "slug": "epha8"
        },
        {
          "symbol": "C1QA",
          "ensemblId": "ENSG00000173372",
          "biotype": "protein_coding",
          "start": 22635057,
          "end": 22640201,
          "strand": "+",
          "slug": "c1qa"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289692",
          "biotype": "protein_coding",
          "start": 22636506,
          "end": 22644067,
          "strand": "+"
        },
        {
          "symbol": "C1QB",
          "ensemblId": "ENSG00000173369",
          "biotype": "protein_coding",
          "start": 22652713,
          "end": 22661637,
          "strand": "+",
          "slug": "c1qb"
        },
        {
          "symbol": "EPHB2",
          "ensemblId": "ENSG00000133216",
          "biotype": "protein_coding",
          "start": 22710798,
          "end": 22921500,
          "strand": "+",
          "slug": "ephb2"
        },
        {
          "symbol": "LACTBL1",
          "ensemblId": "ENSG00000215906",
          "biotype": "protein_coding",
          "start": 22953043,
          "end": 22972866,
          "strand": "-",
          "slug": "lactbl1"
        },
        {
          "symbol": "TEX46",
          "ensemblId": "ENSG00000227868",
          "biotype": "protein_coding",
          "start": 23010833,
          "end": 23019100,
          "strand": "-",
          "slug": "tex46"
        },
        {
          "symbol": "KDM1A",
          "ensemblId": "ENSG00000004487",
          "biotype": "protein_coding",
          "start": 23019395,
          "end": 23083704,
          "strand": "+",
          "slug": "kdm1a"
        },
        {
          "symbol": "LUZP1",
          "ensemblId": "ENSG00000169641",
          "biotype": "protein_coding",
          "start": 23084030,
          "end": 23178152,
          "strand": "-",
          "slug": "luzp1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000293565",
          "biotype": "protein_coding",
          "start": 23094326,
          "end": 23094376,
          "strand": "-"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "complement-and-properdin-deficiencies",
        "name": "Κληρονομικές ανεπάρκειες του συμπληρώματος και της προπερδίνης",
        "diseases": [
          {
            "mondoId": "MONDO:0015699",
            "name": "Ανεπάρκεια συστατικών της πρώιμης κλασικής οδού του συμπληρώματος (C1q, C1r/C1s, C2, C4)",
            "genes": 7,
            "inheritance": "autosomal-recessive",
            "description": "Ανεπάρκειες των πρώιμων συστατικών της κλασικής οδού του συμπληρώματος, which σχετίζονται με αυτοάνοσες νόσους τύπου λύκου και ορισμένες βακτηριακές λοιμώξεις.",
            "management": "Η γνώση της διάγνωσης βοηθά στην έγκαιρη αναγνώριση της αυτοάνοσης νόσου και στον κατάλληλο εμβολιασμό.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/complement-and-properdin-deficiencies"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Άλλα έμφυτα σφάλματα της ανοσίας",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Ανοσολογική ανεπάρκεια με γενετική βάση",
            "genes": 114,
            "inheritance": null,
            "description": "Κληρονομικές διαταραχές του ανοσοποιητικού συστήματος που οφείλονται σε μεταβολές σε μεμονωμένα γονίδια και επηρεάζουν τον τρόπο με τον οποίο ο οργανισμός καταπολεμά τις λοιμώξεις ή ρυθμίζει τη φλεγμονή.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Ανοσοανεπάρκεια",
            "genes": 170,
            "inheritance": null,
            "description": "Νόσος κατά την οποία υπάρχει ανεπάρκεια ή ελάττωμα στους μηχανισμούς ανοσίας, είτε κυτταρικής είτε χυμικής φύσης.",
            "management": "Μεταμόσχευση αιμοποιητικών βλαστικών κυττάρων (HSCT) για SCID και σοβαρές PID· υποκατάσταση ανοσοσφαιρινών (IVIG/SCIG) για ανεπάρκειες αντισωμάτων· λενιολισίμπη (Joenja, FDA 2023) για APDS· γονιδιακή θεραπεία για ADA-SCID· αμπατασέπτη για ανεπάρκεια CTLA4/LRBA· προφυλακτικά αντιβιοτικά· G-CSF για CGD",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "decreased-circulating-c1q-concentration",
        "name": "Decreased circulating C1q concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-c1q-concentration"
      },
      {
        "slug": "discoid-lupus-rash",
        "name": "Discoid lupus rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/discoid-lupus-rash"
      },
      {
        "slug": "neonatal-omphalitis",
        "name": "Neonatal omphalitis",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-omphalitis"
      },
      {
        "slug": "recurrent-bacterial-meningitis",
        "name": "Recurrent bacterial meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-meningitis"
      }
    ],
    "related": [
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/c1qb"
      },
      {
        "slug": "c1s",
        "symbol": "C1S",
        "name": "complement C1s",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/c1s"
      },
      {
        "slug": "c2",
        "symbol": "C2",
        "name": "complement C2",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/c2"
      },
      {
        "slug": "c4a",
        "symbol": "C4A",
        "name": "complement C4A (Chido/Rodgers blood group)",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/c4a"
      },
      {
        "slug": "c4b",
        "symbol": "C4B",
        "name": "complement C4B (Chido/Rodgers blood group)",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/c4b"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/btk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}