{
  "url": "https://dantelabs.com/el/genes/slc39a8",
  "gene": {
    "slug": "slc39a8",
    "symbol": "SLC39A8",
    "name": "solute carrier family 39 member 8",
    "hgnc": "HGNC:20862",
    "summary": null,
    "location": "4q24",
    "locusType": "gene with protein product",
    "aliases": [
      "BIGM103",
      "ZIP8",
      "ZIP-8"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000138821",
    "entrezId": 64116,
    "omim": [
      "608732"
    ],
    "uniprot": [
      "Q9C0K1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 102261666,
      "end": 102345482,
      "strand": "-",
      "ensemblTranscript": "ENST00000356736.5",
      "refseqTranscript": "NM_001135146.2",
      "ensemblProtein": "ENSP00000349174.4",
      "refseqProtein": "NP_001128618.1",
      "exons": [
        {
          "start": 102261666,
          "end": 102263193
        },
        {
          "start": 102267490,
          "end": 102267674
        },
        {
          "start": 102267872,
          "end": 102268079
        },
        {
          "start": 102304317,
          "end": 102304481
        },
        {
          "start": 102304989,
          "end": 102305111
        },
        {
          "start": 102307436,
          "end": 102307605
        },
        {
          "start": 102315668,
          "end": 102315830
        },
        {
          "start": 102344444,
          "end": 102344915
        },
        {
          "start": 102345345,
          "end": 102345482
        }
      ],
      "cds": {
        "start": 102263044,
        "end": 102344662
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 103172198,
      "end": 103352415,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 101803574,
      "end": 102803573,
      "genes": [
        {
          "symbol": "BANK1",
          "ensemblId": "ENSG00000153064",
          "biotype": "protein_coding",
          "start": 101411286,
          "end": 102074904,
          "strand": "+",
          "slug": "bank1"
        },
        {
          "symbol": "NFKB1",
          "ensemblId": "ENSG00000109320",
          "biotype": "protein_coding",
          "start": 102500911,
          "end": 102617302,
          "strand": "+",
          "slug": "nfkb1"
        },
        {
          "symbol": "MANBA",
          "ensemblId": "ENSG00000109323",
          "biotype": "protein_coding",
          "start": 102630770,
          "end": 102761000,
          "strand": "-",
          "slug": "manba"
        },
        {
          "symbol": "UBE2D3",
          "ensemblId": "ENSG00000109332",
          "biotype": "protein_coding",
          "start": 102793516,
          "end": 102869287,
          "strand": "-",
          "slug": "ube2d3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "Συγγενείς διαταραχές της γλυκοζυλίωσης",
        "diseases": [
          {
            "mondoId": "MONDO:0014746",
            "name": "SLC39A8-CDG",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Συγγενής διαταραχή της γλυκοζυλίωσης που προκαλείται από παραλλαγές στο γονίδιο του μεταφορέα μαγγανίου SLC39A8, με καθυστέρηση ανάπτυξης, χαμηλό μυϊκό τόνο, σπασμούς και πολύ χαμηλό μαγγάνιο στο αίμα.",
            "management": "Το μαγγάνιο σε υψηλή δόση, με ή χωρίς γαλακτόζη, υπό εξειδικευμένη επίβλεψη μπορεί να βελτιώσει τη γλυκοζυλίωση.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0015286",
            "name": "Συγγενείς διαταραχές της γλυκοζυλίωσης (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Μια μεγάλη ομάδα κληρονομικών παθήσεων κατά τις οποίες οι αλυσίδες σακχάρων (γλυκάνες) δεν σχηματίζονται ή δεν προσδένονται σωστά στις πρωτεΐνες και στα λιπίδια, συχνά επηρεάζοντας τον εγκέφαλο, το ήπαρ, την πήξη του αίματος, την ανάπτυξη και πολλά άλλα συστήματα του οργανισμού. Οι περισσότερες είναι αυτοσωματικές υπολειπόμενες, ενώ ορισμένες είναι συνδεδεμένες με το X ή αυτοσωματικές επικρατούσες.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-zinc-concentration",
        "name": "Abnormal circulating zinc concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-zinc-concentration"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "cerebellar-vermis-atrophy",
        "name": "Cerebellar vermis atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-ii",
        "name": "Decreased activity of mitochondrial complex II",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-ii"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "decreased-activity-of-the-pyruvate-dehydrogenase-complex",
        "name": "Decreased activity of the pyruvate dehydrogenase complex",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-activity-of-the-pyruvate-dehydrogenase-complex"
      },
      {
        "slug": "decreased-mitochondrial-complex-iii-activity-in-liver-tissue",
        "name": "Decreased mitochondrial complex III activity in liver tissue",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-mitochondrial-complex-iii-activity-in-liver-tissue"
      },
      {
        "slug": "craniosynostosis",
        "name": "Deformity of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/craniosynostosis"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-ability-to-sit",
        "name": "Delayed ability to sit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-sit"
      },
      {
        "slug": "disproportionate-short-limb-short-stature",
        "name": "Disproportionate short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "elevated-brain-lactate-level-by-mrs",
        "name": "Elevated brain lactate level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-brain-lactate-level-by-mrs"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypomanganesemia",
        "name": "Hypomanganesemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypomanganesemia"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "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": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "limb-undergrowth",
        "name": "Limb undergrowth",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-undergrowth"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "profound-global-developmental-delay",
        "name": "Profound global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/profound-global-developmental-delay"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "severe-muscular-hypotonia",
        "name": "Severely decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-muscular-hypotonia"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sudden-episodic-apnea",
        "name": "Sudden episodic apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sudden-episodic-apnea"
      },
      {
        "slug": "type-ii-transferrin-isoform-profile",
        "name": "Type II transferrin isoform profile",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/type-ii-transferrin-isoform-profile"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-fixation-instability",
        "name": "Visual fixation instability",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-fixation-instability"
      },
      {
        "slug": "cutaneous-syndactyly-of-toes",
        "name": "Webbed skin of toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutaneous-syndactyly-of-toes"
      }
    ],
    "related": [
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/a4galt"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg13"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg2"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg9"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atp6ap1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}