{
  "url": "https://dantelabs.com/hu/genes/znf423",
  "gene": {
    "slug": "znf423",
    "symbol": "ZNF423",
    "name": "zinc finger protein 423",
    "hgnc": "HGNC:16762",
    "summary": null,
    "location": "16q12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA0760",
      "OAZ",
      "hOAZ",
      "Ebfaz",
      "Zfp104",
      "NPHP14",
      "JBTS19"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000102935",
    "entrezId": 23090,
    "omim": [
      "604557"
    ],
    "uniprot": [
      "Q2M1K9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 49487524,
      "end": 49856112,
      "strand": "-",
      "ensemblTranscript": "ENST00000563137.7",
      "refseqTranscript": "NM_001379286.1",
      "ensemblProtein": "ENSP00000455588.3",
      "refseqProtein": "NP_001366215.1",
      "exons": [
        {
          "start": 49487524,
          "end": 49491304
        },
        {
          "start": 49523624,
          "end": 49523739
        },
        {
          "start": 49525363,
          "end": 49525494
        },
        {
          "start": 49626170,
          "end": 49626254
        },
        {
          "start": 49635660,
          "end": 49638874
        },
        {
          "start": 49730771,
          "end": 49730971
        },
        {
          "start": 49789487,
          "end": 49789546
        },
        {
          "start": 49855735,
          "end": 49856112
        }
      ],
      "cds": {
        "start": 49491275,
        "end": 49855774
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 49521435,
      "end": 49891830,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 49118935,
      "end": 50224701,
      "genes": [
        {
          "symbol": "CBLN1",
          "ensemblId": "ENSG00000102924",
          "biotype": "protein_coding",
          "start": 49277687,
          "end": 49281879,
          "strand": "-",
          "slug": "cbln1"
        },
        {
          "symbol": "C16orf78",
          "ensemblId": "ENSG00000166152",
          "biotype": "protein_coding",
          "start": 49373804,
          "end": 49399431,
          "strand": "+",
          "slug": "c16orf78"
        },
        {
          "symbol": "CNEP1R1",
          "ensemblId": "ENSG00000205423",
          "biotype": "protein_coding",
          "start": 50024410,
          "end": 50042799,
          "strand": "+",
          "slug": "cnep1r1"
        },
        {
          "symbol": "HEATR3",
          "ensemblId": "ENSG00000155393",
          "biotype": "protein_coding",
          "start": 50065960,
          "end": 50107272,
          "strand": "+",
          "slug": "heatr3"
        },
        {
          "symbol": "TENT4B",
          "ensemblId": "ENSG00000121274",
          "biotype": "protein_coding",
          "start": 50152901,
          "end": 50235310,
          "strand": "+",
          "slug": "tent4b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "joubert-syndrome-and-related-disorders",
        "name": "Joubert Syndrome And Related Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0018772",
            "name": "Joubert Syndrome",
            "genes": 37,
            "inheritance": null,
            "description": "A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/joubert-syndrome-and-related-disorders"
      },
      {
        "slug": "nephronophthisis-senior-loken-syndrome",
        "name": "Nephronophthisis and Senior-Løken Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0019005",
            "name": "Nephronophthisis",
            "genes": 17,
            "inheritance": "autosomal-recessive",
            "description": "A recessively inherited kidney disease, caused by variants in NPHP1 and other cilia genes, in which progressive tubulointerstitial scarring leads to kidney failure, typically in the first three decades of life.",
            "management": "Knowing allows regular kidney function monitoring, timely planning for dialysis or transplantation, and carrier testing for relatives.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/nephronophthisis-senior-loken-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormality-of-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "slug": "abnormality-of-the-hypothalamus-pituitary-axis",
        "name": "Abnormality of the hypothalamus-pituitary axis",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-hypothalamus-pituitary-axis"
      },
      {
        "slug": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-corpus-callosum",
        "name": "Aplasia/Hypoplasia of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "chorioretinal-coloboma",
        "name": "Birth defect that causes a hole in the innermost layer at the back of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-coloboma"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "retinal-dystrophy",
        "name": "Breakdown of light-sensitive cells in back of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "biparietal-narrowing",
        "name": "Decreased width of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/biparietal-narrowing"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "foot-polydactyly",
        "name": "Duplication of bones of the toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foot-polydactyly"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "encephalocele",
        "name": "Encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/encephalocele"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hand-polydactyly",
        "name": "Extra finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hand-polydactyly"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "long-face",
        "name": "Long face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-face"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "molar-tooth-sign-on-mri",
        "name": "Molar tooth sign on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/molar-tooth-sign-on-mri"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "nephronophthisis",
        "name": "Nephronophthisis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/nephronophthisis"
      },
      {
        "slug": "polycystic-kidney-dysplasia",
        "name": "Polycystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "nphp1",
        "symbol": "NPHP1",
        "name": "nephrocystin 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/nphp1"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "name": "transmembrane protein 67",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/tmem67"
      },
      {
        "slug": "adamts9",
        "symbol": "ADAMTS9",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 9",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adamts9"
      },
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ahi1"
      },
      {
        "slug": "anks6",
        "symbol": "ANKS6",
        "name": "ankyrin repeat and sterile alpha motif domain containing 6",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/anks6"
      },
      {
        "slug": "arl13b",
        "symbol": "ARL13B",
        "name": "ARF like GTPase 13B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arl13b"
      },
      {
        "slug": "arl3",
        "symbol": "ARL3",
        "name": "ARF like GTPase 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arl3"
      },
      {
        "slug": "armc9",
        "symbol": "ARMC9",
        "name": "armadillo repeat containing 9",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/armc9"
      },
      {
        "slug": "b9d1",
        "symbol": "B9D1",
        "name": "B9 domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/b9d1"
      },
      {
        "slug": "b9d2",
        "symbol": "B9D2",
        "name": "B9 domain containing 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/b9d2"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cc2d2a"
      },
      {
        "slug": "cep104",
        "symbol": "CEP104",
        "name": "centrosomal protein 104",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cep104"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}