{
  "url": "https://dantelabs.com/cs/genes/isca2",
  "gene": {
    "slug": "isca2",
    "symbol": "ISCA2",
    "name": "iron-sulfur cluster assembly 2",
    "hgnc": "HGNC:19857",
    "summary": null,
    "location": "14q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "ISA2"
    ],
    "previousSymbols": [
      "HBLD1"
    ],
    "ensemblId": "ENSG00000165898",
    "entrezId": 122961,
    "omim": [
      "615317"
    ],
    "uniprot": [
      "Q86U28"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 74493765,
      "end": 74497106,
      "strand": "+",
      "ensemblTranscript": "ENST00000556816.6",
      "refseqTranscript": "NM_194279.4",
      "ensemblProtein": "ENSP00000452007.1",
      "refseqProtein": "NP_919255.2",
      "exons": [
        {
          "start": 74493765,
          "end": 74493845
        },
        {
          "start": 74494050,
          "end": 74494152
        },
        {
          "start": 74494275,
          "end": 74494390
        },
        {
          "start": 74494826,
          "end": 74497106
        }
      ],
      "cds": {
        "start": 74493775,
        "end": 74495000
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 74960423,
      "end": 74963809,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 73995436,
      "end": 74995435,
      "genes": [
        {
          "symbol": "ENTPD5",
          "ensemblId": "ENSG00000187097",
          "biotype": "protein_coding",
          "start": 73956688,
          "end": 74019399,
          "strand": "-",
          "slug": "entpd5"
        },
        {
          "symbol": "BBOF1",
          "ensemblId": "ENSG00000119636",
          "biotype": "protein_coding",
          "start": 74019341,
          "end": 74082863,
          "strand": "+",
          "slug": "bbof1"
        },
        {
          "symbol": "ALDH6A1",
          "ensemblId": "ENSG00000119711",
          "biotype": "protein_coding",
          "start": 74055997,
          "end": 74084492,
          "strand": "-",
          "slug": "aldh6a1"
        },
        {
          "symbol": "LIN52",
          "ensemblId": "ENSG00000205659",
          "biotype": "protein_coding",
          "start": 74084943,
          "end": 74201493,
          "strand": "+",
          "slug": "lin52"
        },
        {
          "symbol": "VSX2",
          "ensemblId": "ENSG00000119614",
          "biotype": "protein_coding",
          "start": 74239449,
          "end": 74262738,
          "strand": "+",
          "slug": "vsx2"
        },
        {
          "symbol": "ABCD4",
          "ensemblId": "ENSG00000119688",
          "biotype": "protein_coding",
          "start": 74285269,
          "end": 74303068,
          "strand": "-",
          "slug": "abcd4"
        },
        {
          "symbol": "VRTN",
          "ensemblId": "ENSG00000133980",
          "biotype": "protein_coding",
          "start": 74303069,
          "end": 74360011,
          "strand": "+",
          "slug": "vrtn"
        },
        {
          "symbol": "SYNDIG1L",
          "ensemblId": "ENSG00000183379",
          "biotype": "protein_coding",
          "start": 74405894,
          "end": 74426325,
          "strand": "-",
          "slug": "syndig1l"
        },
        {
          "symbol": "NPC2",
          "ensemblId": "ENSG00000119655",
          "biotype": "protein_coding",
          "start": 74427119,
          "end": 74494177,
          "strand": "-",
          "slug": "npc2"
        },
        {
          "symbol": "LTBP2",
          "ensemblId": "ENSG00000119681",
          "biotype": "protein_coding",
          "start": 74498163,
          "end": 74612378,
          "strand": "-",
          "slug": "ltbp2"
        },
        {
          "symbol": "AREL1",
          "ensemblId": "ENSG00000119682",
          "biotype": "protein_coding",
          "start": 74653437,
          "end": 74713117,
          "strand": "-",
          "slug": "arel1"
        },
        {
          "symbol": "FCF1",
          "ensemblId": "ENSG00000119616",
          "biotype": "protein_coding",
          "start": 74713144,
          "end": 74750706,
          "strand": "+",
          "slug": "fcf1"
        },
        {
          "symbol": "YLPM1",
          "ensemblId": "ENSG00000119596",
          "biotype": "protein_coding",
          "start": 74763289,
          "end": 74859435,
          "strand": "+",
          "slug": "ylpm1"
        },
        {
          "symbol": "PROX2",
          "ensemblId": "ENSG00000119608",
          "biotype": "protein_coding",
          "start": 74852871,
          "end": 74876154,
          "strand": "-",
          "slug": "prox2"
        },
        {
          "symbol": "DLST",
          "ensemblId": "ENSG00000119689",
          "biotype": "protein_coding",
          "start": 74881891,
          "end": 74903966,
          "strand": "+",
          "slug": "dlst"
        },
        {
          "symbol": "RPS6KL1",
          "ensemblId": "ENSG00000198208",
          "biotype": "protein_coding",
          "start": 74903951,
          "end": 74923308,
          "strand": "-",
          "slug": "rps6kl1"
        },
        {
          "symbol": "PGF",
          "ensemblId": "ENSG00000119630",
          "biotype": "protein_coding",
          "start": 74940965,
          "end": 74955626,
          "strand": "-",
          "slug": "pgf"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "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": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-periventricular-white-matter-morphology",
        "name": "Abnormal periventricular white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-periventricular-white-matter-morphology"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "appendicular-spasticity",
        "name": "Appendicular spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/appendicular-spasticity"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "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": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "hyperglycinemia",
        "name": "Elevated blood glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperglycinemia"
      },
      {
        "slug": "elevated-brain-glycine-level-by-mrs",
        "name": "Elevated brain glycine level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-brain-glycine-level-by-mrs"
      },
      {
        "slug": "elevated-brain-lactate-level-by-mrs",
        "name": "Elevated brain lactate level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-brain-lactate-level-by-mrs"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "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": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "increased-csf-glutamate-concentration",
        "name": "Increased CSF glutamate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-csf-glutamate-concentration"
      },
      {
        "slug": "increased-csf-glycine-concentration",
        "name": "Increased CSF glycine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-csf-glycine-concentration"
      },
      {
        "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": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "profound-global-developmental-delay",
        "name": "Profound global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/profound-global-developmental-delay"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "vegetative-state",
        "name": "Vegetative state",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vegetative-state"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aldh3a2"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/arsa"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "name": "aspartoacylase",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aspa"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/atp11a"
      },
      {
        "slug": "clcn2",
        "symbol": "CLCN2",
        "name": "chloride voltage-gated channel 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/clcn2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}