{
  "url": "https://dantelabs.com/cs/genes/szt2",
  "gene": {
    "slug": "szt2",
    "symbol": "SZT2",
    "name": "SZT2 subunit of KICSTOR complex",
    "hgnc": "HGNC:29040",
    "summary": null,
    "location": "1p34.2",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ10387",
      "SZT2B",
      "RP11-506B15.1",
      "FLJ34502",
      "SZT2A",
      "KICS1"
    ],
    "previousSymbols": [
      "C1orf84",
      "KIAA0467"
    ],
    "ensemblId": "ENSG00000198198",
    "entrezId": 23334,
    "omim": [
      "615463"
    ],
    "uniprot": [
      "Q5T011"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 43389899,
      "end": 43454247,
      "strand": "+",
      "ensemblTranscript": "ENST00000634258.3",
      "refseqTranscript": "NM_001365999.1",
      "ensemblProtein": "ENSP00000489255.1",
      "refseqProtein": "NP_001352928.1",
      "exons": [
        {
          "start": 43389899,
          "end": 43389995
        },
        {
          "start": 43403177,
          "end": 43403302
        },
        {
          "start": 43403601,
          "end": 43403774
        },
        {
          "start": 43404380,
          "end": 43404550
        },
        {
          "start": 43415082,
          "end": 43415213
        },
        {
          "start": 43415960,
          "end": 43416101
        },
        {
          "start": 43416535,
          "end": 43416641
        },
        {
          "start": 43419734,
          "end": 43419944
        },
        {
          "start": 43420153,
          "end": 43420323
        },
        {
          "start": 43420749,
          "end": 43420983
        },
        {
          "start": 43421174,
          "end": 43421303
        },
        {
          "start": 43422083,
          "end": 43422225
        },
        {
          "start": 43422480,
          "end": 43422632
        },
        {
          "start": 43422769,
          "end": 43422883
        },
        {
          "start": 43423099,
          "end": 43423316
        },
        {
          "start": 43424217,
          "end": 43424432
        },
        {
          "start": 43424784,
          "end": 43424862
        },
        {
          "start": 43425113,
          "end": 43425207
        },
        {
          "start": 43425474,
          "end": 43425642
        },
        {
          "start": 43425835,
          "end": 43425949
        },
        {
          "start": 43426038,
          "end": 43426151
        },
        {
          "start": 43426368,
          "end": 43426538
        },
        {
          "start": 43426715,
          "end": 43426809
        },
        {
          "start": 43427056,
          "end": 43427179
        },
        {
          "start": 43427281,
          "end": 43427445
        },
        {
          "start": 43427530,
          "end": 43427734
        },
        {
          "start": 43428003,
          "end": 43428118
        },
        {
          "start": 43428240,
          "end": 43428486
        },
        {
          "start": 43429703,
          "end": 43429844
        },
        {
          "start": 43430011,
          "end": 43430103
        },
        {
          "start": 43430311,
          "end": 43430389
        },
        {
          "start": 43430496,
          "end": 43430789
        },
        {
          "start": 43430949,
          "end": 43431090
        },
        {
          "start": 43431265,
          "end": 43431372
        },
        {
          "start": 43431460,
          "end": 43431523
        },
        {
          "start": 43431716,
          "end": 43431901
        },
        {
          "start": 43432272,
          "end": 43432439
        },
        {
          "start": 43432517,
          "end": 43432604
        },
        {
          "start": 43432728,
          "end": 43432799
        },
        {
          "start": 43432989,
          "end": 43433190
        },
        {
          "start": 43434386,
          "end": 43434485
        },
        {
          "start": 43435200,
          "end": 43435329
        },
        {
          "start": 43437171,
          "end": 43437323
        },
        {
          "start": 43437406,
          "end": 43437508
        },
        {
          "start": 43437595,
          "end": 43437700
        },
        {
          "start": 43437791,
          "end": 43437902
        },
        {
          "start": 43438699,
          "end": 43438817
        },
        {
          "start": 43438929,
          "end": 43439093
        },
        {
          "start": 43439358,
          "end": 43439442
        },
        {
          "start": 43439605,
          "end": 43439769
        },
        {
          "start": 43439881,
          "end": 43440048
        },
        {
          "start": 43440453,
          "end": 43440586
        },
        {
          "start": 43441214,
          "end": 43441380
        },
        {
          "start": 43441504,
          "end": 43441601
        },
        {
          "start": 43441686,
          "end": 43441818
        },
        {
          "start": 43442000,
          "end": 43442130
        },
        {
          "start": 43442268,
          "end": 43442368
        },
        {
          "start": 43442442,
          "end": 43442618
        },
        {
          "start": 43442819,
          "end": 43443086
        },
        {
          "start": 43443188,
          "end": 43443267
        },
        {
          "start": 43443352,
          "end": 43443477
        },
        {
          "start": 43443597,
          "end": 43443796
        },
        {
          "start": 43445894,
          "end": 43445984
        },
        {
          "start": 43446179,
          "end": 43446259
        },
        {
          "start": 43446342,
          "end": 43446416
        },
        {
          "start": 43446955,
          "end": 43447168
        },
        {
          "start": 43447545,
          "end": 43447698
        },
        {
          "start": 43447849,
          "end": 43447971
        },
        {
          "start": 43448079,
          "end": 43448484
        },
        {
          "start": 43448612,
          "end": 43448728
        },
        {
          "start": 43450103,
          "end": 43450171
        },
        {
          "start": 43450337,
          "end": 43454247
        }
      ],
      "cds": {
        "start": 43389969,
        "end": 43450480
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 43855553,
      "end": 43918321,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 42922073,
      "end": 43922072,
      "genes": [
        {
          "symbol": "SLC2A1",
          "ensemblId": "ENSG00000117394",
          "biotype": "protein_coding",
          "start": 42925353,
          "end": 42958904,
          "strand": "-",
          "slug": "slc2a1"
        },
        {
          "symbol": "CFAP144",
          "ensemblId": "ENSG00000186973",
          "biotype": "protein_coding",
          "start": 43145153,
          "end": 43156396,
          "strand": "+",
          "slug": "cfap144"
        },
        {
          "symbol": "EBNA1BP2",
          "ensemblId": "ENSG00000117395",
          "biotype": "protein_coding",
          "start": 43162085,
          "end": 43270936,
          "strand": "-",
          "slug": "ebna1bp2"
        },
        {
          "symbol": "CFAP57",
          "ensemblId": "ENSG00000243710",
          "biotype": "protein_coding",
          "start": 43172326,
          "end": 43254358,
          "strand": "+",
          "slug": "cfap57"
        },
        {
          "symbol": "TMEM125",
          "ensemblId": "ENSG00000179178",
          "biotype": "protein_coding",
          "start": 43269976,
          "end": 43274007,
          "strand": "+",
          "slug": "tmem125"
        },
        {
          "symbol": "C1orf210",
          "ensemblId": "ENSG00000253313",
          "biotype": "protein_coding",
          "start": 43281271,
          "end": 43285908,
          "strand": "-",
          "slug": "c1orf210"
        },
        {
          "symbol": "TIE1",
          "ensemblId": "ENSG00000066056",
          "biotype": "protein_coding",
          "start": 43300958,
          "end": 43325215,
          "strand": "+",
          "slug": "tie1"
        },
        {
          "symbol": "MPL",
          "ensemblId": "ENSG00000117400",
          "biotype": "protein_coding",
          "start": 43337808,
          "end": 43354466,
          "strand": "+",
          "slug": "mpl"
        },
        {
          "symbol": "CDC20",
          "ensemblId": "ENSG00000117399",
          "biotype": "protein_coding",
          "start": 43358907,
          "end": 43363212,
          "strand": "+",
          "slug": "cdc20"
        },
        {
          "symbol": "ELOVL1",
          "ensemblId": "ENSG00000066322",
          "biotype": "protein_coding",
          "start": 43363141,
          "end": 43368075,
          "strand": "-",
          "slug": "elovl1"
        },
        {
          "symbol": "MED8",
          "ensemblId": "ENSG00000159479",
          "biotype": "protein_coding",
          "start": 43383906,
          "end": 43389823,
          "strand": "-",
          "slug": "med8"
        },
        {
          "symbol": "HYI",
          "ensemblId": "ENSG00000178922",
          "biotype": "protein_coding",
          "start": 43450597,
          "end": 43453999,
          "strand": "-",
          "slug": "hyi"
        },
        {
          "symbol": "PTPRF",
          "ensemblId": "ENSG00000142949",
          "biotype": "protein_coding",
          "start": 43525086,
          "end": 43626579,
          "strand": "+",
          "slug": "ptprf"
        },
        {
          "symbol": "KDM4A",
          "ensemblId": "ENSG00000066135",
          "biotype": "protein_coding",
          "start": 43649256,
          "end": 43705518,
          "strand": "+",
          "slug": "kdm4a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284989",
          "biotype": "protein_coding",
          "start": 43650149,
          "end": 43931014,
          "strand": "+"
        },
        {
          "symbol": "ST3GAL3",
          "ensemblId": "ENSG00000126091",
          "biotype": "protein_coding",
          "start": 43705824,
          "end": 43931167,
          "strand": "+",
          "slug": "st3gal3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epilepsy-report",
        "name": "Epilepsy (Full Panel)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Epilepsy",
            "genes": 171,
            "inheritance": null,
            "description": "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/epilepsy-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-corpus-callosum-morphology",
        "name": "Abnormal corpus callosum morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-corpus-callosum-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-involuntary-eye-movements",
        "name": "Abnormal involuntary eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-involuntary-eye-movements"
      },
      {
        "slug": "abnormal-myelination",
        "name": "Abnormal myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-myelination"
      },
      {
        "slug": "abnormality-of-coordination",
        "name": "Abnormality of coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-coordination"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "atypical-absence-seizure",
        "name": "Atypical absence seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-absence-seizure"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure-with-focal-onset",
        "name": "Bilateral tonic-clonic seizure with focal onset",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-focal-onset"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "generalized-non-motor-absence-seizure",
        "name": "Brief seizures with staring spells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "dyskinesia",
        "name": "Disorder of involuntary muscle movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyskinesia"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "eeg-with-multifocal-slow-activity",
        "name": "EEG with multifocal slow activity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-with-multifocal-slow-activity"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epileptic-encephalopathy",
        "name": "Epileptic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/epileptic-encephalopathy"
      },
      {
        "slug": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-onset-seizure",
        "name": "Generalized-onset seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-onset-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "impulsivity",
        "name": "Impulsivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impulsivity"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "involuntary-movements",
        "name": "Involuntary movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/involuntary-movements"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "profound-global-developmental-delay",
        "name": "Profound global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/profound-global-developmental-delay"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "thick-corpus-callosum",
        "name": "Thick corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/thick-corpus-callosum"
      },
      {
        "slug": "tonic-seizure",
        "name": "Tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tonic-seizure"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aars1"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "name": "4-aminobutyrate aminotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/abat"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "name": "actin like 6B",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/actl6b"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "name": "ADAM metallopeptidase domain 22",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/adam22"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aldh7a1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/alg13"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ap3b2"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/atp1a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}