{
  "url": "https://dantelabs.com/de/genes/brat1",
  "gene": {
    "slug": "brat1",
    "symbol": "BRAT1",
    "name": "BRCA1 associated ATM activator 1",
    "hgnc": "HGNC:21701",
    "summary": null,
    "location": "7p22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC22916"
    ],
    "previousSymbols": [
      "C7orf27",
      "BAAT1"
    ],
    "ensemblId": "ENSG00000106009",
    "entrezId": 221927,
    "omim": [
      "614506"
    ],
    "uniprot": [
      "Q6PJG6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 2537810,
      "end": 2555524,
      "strand": "-",
      "ensemblTranscript": "ENST00000340611.9",
      "refseqTranscript": "NM_152743.4",
      "ensemblProtein": "ENSP00000339637.4",
      "refseqProtein": "NP_689956.2",
      "exons": [
        {
          "start": 2537810,
          "end": 2538764
        },
        {
          "start": 2539179,
          "end": 2539351
        },
        {
          "start": 2539544,
          "end": 2539642
        },
        {
          "start": 2539786,
          "end": 2539888
        },
        {
          "start": 2540979,
          "end": 2541052
        },
        {
          "start": 2541298,
          "end": 2541484
        },
        {
          "start": 2541718,
          "end": 2541836
        },
        {
          "start": 2542120,
          "end": 2542211
        },
        {
          "start": 2543204,
          "end": 2543323
        },
        {
          "start": 2543590,
          "end": 2543962
        },
        {
          "start": 2544909,
          "end": 2545056
        },
        {
          "start": 2547324,
          "end": 2547478
        },
        {
          "start": 2554305,
          "end": 2554447
        },
        {
          "start": 2555487,
          "end": 2555524
        }
      ],
      "cds": {
        "start": 2538069,
        "end": 2554431
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 2577511,
      "end": 2595361,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 2046667,
      "end": 3046666,
      "genes": [
        {
          "symbol": "MAD1L1",
          "ensemblId": "ENSG00000002822",
          "biotype": "protein_coding",
          "start": 1815787,
          "end": 2233243,
          "strand": "-",
          "slug": "mad1l1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286192",
          "biotype": "protein_coding",
          "start": 1815804,
          "end": 2242215,
          "strand": "-"
        },
        {
          "symbol": "MRM2",
          "ensemblId": "ENSG00000122687",
          "biotype": "protein_coding",
          "start": 2234195,
          "end": 2242229,
          "strand": "-",
          "slug": "mrm2"
        },
        {
          "symbol": "NUDT1",
          "ensemblId": "ENSG00000106268",
          "biotype": "protein_coding",
          "start": 2242203,
          "end": 2251824,
          "strand": "+",
          "slug": "nudt1"
        },
        {
          "symbol": "SNX8",
          "ensemblId": "ENSG00000106266",
          "biotype": "protein_coding",
          "start": 2251770,
          "end": 2354318,
          "strand": "-",
          "slug": "snx8"
        },
        {
          "symbol": "EIF3B",
          "ensemblId": "ENSG00000106263",
          "biotype": "protein_coding",
          "start": 2354080,
          "end": 2380747,
          "strand": "+",
          "slug": "eif3b"
        },
        {
          "symbol": "CHST12",
          "ensemblId": "ENSG00000136213",
          "biotype": "protein_coding",
          "start": 2403442,
          "end": 2448484,
          "strand": "+",
          "slug": "chst12"
        },
        {
          "symbol": "GRIFIN",
          "ensemblId": "ENSG00000275572",
          "biotype": "protein_coding",
          "start": 2474728,
          "end": 2476894,
          "strand": "-",
          "slug": "grifin"
        },
        {
          "symbol": "LFNG",
          "ensemblId": "ENSG00000106003",
          "biotype": "protein_coding",
          "start": 2512529,
          "end": 2529177,
          "strand": "+",
          "slug": "lfng"
        },
        {
          "symbol": "IQCE",
          "ensemblId": "ENSG00000106012",
          "biotype": "protein_coding",
          "start": 2558903,
          "end": 2614733,
          "strand": "+",
          "slug": "iqce"
        },
        {
          "symbol": "TTYH3",
          "ensemblId": "ENSG00000136295",
          "biotype": "protein_coding",
          "start": 2631898,
          "end": 2664816,
          "strand": "+",
          "slug": "ttyh3"
        },
        {
          "symbol": "AMZ1",
          "ensemblId": "ENSG00000174945",
          "biotype": "protein_coding",
          "start": 2679276,
          "end": 2775500,
          "strand": "+",
          "slug": "amz1"
        },
        {
          "symbol": "GNA12",
          "ensemblId": "ENSG00000146535",
          "biotype": "protein_coding",
          "start": 2721820,
          "end": 2870786,
          "strand": "-",
          "slug": "gna12"
        },
        {
          "symbol": "CARD11",
          "ensemblId": "ENSG00000198286",
          "biotype": "protein_coding",
          "start": 2905881,
          "end": 3044228,
          "strand": "-",
          "slug": "card11"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epilepsy-report",
        "name": "Epilepsie (Komplettpanel)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Epilepsie",
            "genes": 171,
            "inheritance": null,
            "description": "Eine Erkrankung des Gehirns, die durch Episoden abnorm gesteigerter neuronaler Entladungen gekennzeichnet ist. Diese führen zu vorübergehenden sensorischen, motorischen oder psychischen Funktionsstörungen und können mit oder ohne Bewusstseinsverlust oder Krämpfe auftreten.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/de/conditions/epilepsy-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-autonomic-nervous-system-physiology",
        "name": "Abnormal autonomic nervous system physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology"
      },
      {
        "slug": "abnormal-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "agitation",
        "name": "Agitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/agitation"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "broad-face",
        "name": "Broad face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/broad-face"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "clonus",
        "name": "Clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/clonus"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "cytochrome-c-oxidase-negative-muscle-fibers",
        "name": "Cytochrome C oxidase-negative muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cytochrome-c-oxidase-negative-muscle-fibers"
      },
      {
        "slug": "thin-vermilion-border",
        "name": "Decreased volume of lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/thin-vermilion-border"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "eeg-with-burst-suppression",
        "name": "EEG with burst suppression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-with-burst-suppression"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "exaggerated-startle-response",
        "name": "Exaggerated startle response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exaggerated-startle-response"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "focal-motor-status-epilepticus",
        "name": "Focal motor status epilepticus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-motor-status-epilepticus"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "slug": "gliosis",
        "name": "Gliosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gliosis"
      },
      {
        "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": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "horizontal-jerk-nystagmus",
        "name": "Horizontal jerk nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/horizontal-jerk-nystagmus"
      },
      {
        "slug": "hypothermia",
        "name": "Hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypothermia"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "joint-contracture",
        "name": "Joint contracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/joint-contracture"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "neuronal-loss-in-central-nervous-system",
        "name": "Loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/neuronal-loss-in-central-nervous-system"
      },
      {
        "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": "multifocal-seizures",
        "name": "Multifocal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/multifocal-seizures"
      },
      {
        "slug": "myoclonic-spasms",
        "name": "Myoclonic spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myoclonic-spasms"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "tented-upper-lip-vermilion",
        "name": "Tented mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "truncal-titubation",
        "name": "Truncal titubation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/truncal-titubation"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aars1"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "name": "4-aminobutyrate aminotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/abat"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "name": "actin like 6B",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/actl6b"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "name": "ADAM metallopeptidase domain 22",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/adam22"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aldh7a1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/alg13"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ap3b2"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp1a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}