{
  "url": "https://dantelabs.com/lt/genes/slc30a9",
  "gene": {
    "slug": "slc30a9",
    "symbol": "SLC30A9",
    "name": "solute carrier family 30 member 9",
    "hgnc": "HGNC:1329",
    "summary": null,
    "location": "4p13",
    "locusType": "gene with protein product",
    "aliases": [
      "HUEL",
      "ZNT9",
      "GAC63"
    ],
    "previousSymbols": [
      "C4orf1"
    ],
    "ensemblId": "ENSG00000014824",
    "entrezId": 10463,
    "omim": [
      "604604"
    ],
    "uniprot": [
      "Q6PML9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 41990530,
      "end": 42090461,
      "strand": "+",
      "ensemblTranscript": "ENST00000264451.12",
      "refseqTranscript": "NM_006345.4",
      "ensemblProtein": "ENSP00000264451.6",
      "refseqProtein": "NP_006336.3",
      "exons": [
        {
          "start": 41990530,
          "end": 41990760
        },
        {
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        },
        {
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        },
        {
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        },
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        },
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        },
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        },
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        },
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        },
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        },
        {
          "start": 42075657,
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        },
        {
          "start": 42078212,
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        },
        {
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          "end": 42090461
        }
      ],
      "cds": {
        "start": 41990652,
        "end": 42086126
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 41992489,
      "end": 42092474,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 41540496,
      "end": 42540495,
      "genes": [
        {
          "symbol": "LIMCH1",
          "ensemblId": "ENSG00000064042",
          "biotype": "protein_coding",
          "start": 41359574,
          "end": 41700049,
          "strand": "+",
          "slug": "limch1"
        },
        {
          "symbol": "PHOX2B",
          "ensemblId": "ENSG00000109132",
          "biotype": "protein_coding",
          "start": 41744082,
          "end": 41748887,
          "strand": "-",
          "slug": "phox2b"
        },
        {
          "symbol": "TMEM33",
          "ensemblId": "ENSG00000109133",
          "biotype": "protein_coding",
          "start": 41934380,
          "end": 41960803,
          "strand": "+",
          "slug": "tmem33"
        },
        {
          "symbol": "DCAF4L1",
          "ensemblId": "ENSG00000182308",
          "biotype": "protein_coding",
          "start": 41981756,
          "end": 41986465,
          "strand": "+",
          "slug": "dcaf4l1"
        },
        {
          "symbol": "BEND4",
          "ensemblId": "ENSG00000188848",
          "biotype": "protein_coding",
          "start": 42110853,
          "end": 42152878,
          "strand": "-",
          "slug": "bend4"
        },
        {
          "symbol": "SHISA3",
          "ensemblId": "ENSG00000178343",
          "biotype": "protein_coding",
          "start": 42397348,
          "end": 42402487,
          "strand": "+",
          "slug": "shisa3"
        },
        {
          "symbol": "ATP8A1",
          "ensemblId": "ENSG00000124406",
          "biotype": "protein_coding",
          "start": 42408373,
          "end": 42657144,
          "strand": "-",
          "slug": "atp8a1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Paveldimos neurodegeneracinės ligos",
        "diseases": [
          {
            "mondoId": "MONDO:0044726",
            "name": "Birk-Landau-Perez sindromas (SLC30A9)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Ją sukelia pokyčiai abiejuose SLC30A9 geno egzemplioriuose. Šis genas koduoja cinko transporterį, esantį mitochondrijose ir kituose ląstelių skyriuose. Ligą pirmą kartą aprašė didelėje giminingų asmenų šeimoje, o pranešta tik apie kelias šeimas.",
            "management": "Gydymas palaikomasis: judesių sutrikimų gydymas, terapija ir inkstų stebėsena. Rekomenduojamas genetinis konsultavimas. Abu tėvai paprastai yra nešiotojai, todėl kiekvieno nėštumo metu pasikartojimo tikimybė yra 1 iš 4. Giminaičiams galima atlikti nešiotojo tyrimą.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0024237",
            "name": "Su KIF5A susijusi neurodegeneracinė liga",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Ją sukelia pokyčiai viename KIF5A geno egzemplioriuje. Šis genas koduoja motorinį baltymą su krovinį surišančia uodega. Skirtingų tipų pokyčiai sukelia skirtingas ligas: paveldimą spastinę paraplegiją 10 tipo, aksoninę Charcot-Marie-Tooth ligos formą ir amiotrofinę šoninę sklerozę (ALS).",
            "management": "Gydymas simptominis ir priklauso nuo ligos pasireiškimo. Jis apima fizioterapiją, vaistus nuo spastiškumo ir daugiadisciplininę ALS priežiūrą. Kiekvienas vaiko, kuriam perduotas pakitimas, turi 1 iš 2 tikimybę jį paveldėti. Genetinis konsultavimas padeda šeimoms tai suprasti.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/inherited-neurodegenerative-disorders-selected-genes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "camptocormia",
        "name": "Camptocormia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/camptocormia"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "facial-hypotonia",
        "name": "Decreased facial muscle tone",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/facial-hypotonia"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-ck-mb-concentration",
        "name": "Elevated circulating CK-MB concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-ck-mb-concentration"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "arachnoid-cyst",
        "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arachnoid-cyst"
      },
      {
        "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": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperechogenic-kidneys",
        "name": "Hyperechogenic kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperechogenic-kidneys"
      },
      {
        "slug": "hyperkalemia",
        "name": "Increased circulating potassium concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperkalemia"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "long-eyelashes",
        "name": "Long eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-eyelashes"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "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": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "single-umbilical-artery",
        "name": "Only one artery in umbilical cord instead of two",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/single-umbilical-artery"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "progressive-sensorineural-hearing-impairment",
        "name": "Progressive sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "stage-3-chronic-kidney-disease",
        "name": "Stage 3 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-3-chronic-kidney-disease"
      },
      {
        "slug": "tubulointerstitial-nephritis",
        "name": "Tubulointerstitial nephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tubulointerstitial-nephritis"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aars2"
      },
      {
        "slug": "abcb7",
        "symbol": "ABCB7",
        "name": "ATP binding cassette subfamily B member 7",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/abcb7"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/abhd16a"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/acer3"
      },
      {
        "slug": "aco2",
        "symbol": "ACO2",
        "name": "aconitase 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aco2"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/adar"
      },
      {
        "slug": "adprs",
        "symbol": "ADPRS",
        "name": "ADP-ribosylserine hydrolase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/adprs"
      },
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/afg3l2"
      },
      {
        "slug": "agtpbp1",
        "symbol": "AGTPBP1",
        "name": "ATP/GTP binding carboxypeptidase 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/agtpbp1"
      },
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ahi1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}