{
  "url": "https://dantelabs.com/fr/genes/gria2",
  "gene": {
    "slug": "gria2",
    "symbol": "GRIA2",
    "name": "glutamate ionotropic receptor AMPA type subunit 2",
    "hgnc": "HGNC:4572",
    "summary": null,
    "location": "4q32.1",
    "locusType": "gene with protein product",
    "aliases": [
      "GluA2",
      "GLURB",
      "GluR-K2",
      "GluR-B",
      "GluR-2"
    ],
    "previousSymbols": [
      "GLUR2"
    ],
    "ensemblId": "ENSG00000120251",
    "entrezId": 2891,
    "omim": [
      "138247"
    ],
    "uniprot": [
      "P42262"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 157220728,
      "end": 157366075,
      "strand": "+",
      "ensemblTranscript": "ENST00000264426.14",
      "refseqTranscript": "NM_001083619.3",
      "ensemblProtein": "ENSP00000264426.9",
      "refseqProtein": "NP_001077088.2",
      "exons": [
        {
          "start": 157220728,
          "end": 157221130
        },
        {
          "start": 157221667,
          "end": 157221807
        },
        {
          "start": 157303552,
          "end": 157303791
        },
        {
          "start": 157312679,
          "end": 157312875
        },
        {
          "start": 157317658,
          "end": 157317711
        },
        {
          "start": 157321438,
          "end": 157321599
        },
        {
          "start": 157332819,
          "end": 157332986
        },
        {
          "start": 157333249,
          "end": 157333353
        },
        {
          "start": 157334010,
          "end": 157334120
        },
        {
          "start": 157335671,
          "end": 157335877
        },
        {
          "start": 157336377,
          "end": 157336747
        },
        {
          "start": 157341264,
          "end": 157341462
        },
        {
          "start": 157359896,
          "end": 157360143
        },
        {
          "start": 157361010,
          "end": 157361124
        },
        {
          "start": 157362799,
          "end": 157363047
        },
        {
          "start": 157363435,
          "end": 157366075
        }
      ],
      "cds": {
        "start": 157221043,
        "end": 157363044
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 158125334,
      "end": 158287227,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 156793402,
      "end": 157793401,
      "genes": [
        {
          "symbol": "PDGFC",
          "ensemblId": "ENSG00000145431",
          "biotype": "protein_coding",
          "start": 156758280,
          "end": 156972201,
          "strand": "-",
          "slug": "pdgfc"
        },
        {
          "symbol": "GLRB",
          "ensemblId": "ENSG00000109738",
          "biotype": "protein_coding",
          "start": 157076094,
          "end": 157172097,
          "strand": "+",
          "slug": "glrb"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "gria2-related-neurodevelopmental-disorder",
        "name": "Trouble du neurodéveloppement lié à GRIA2",
        "diseases": [
          {
            "mondoId": "MONDO:0030060",
            "name": "Trouble du neurodéveloppement lié à GRIA2",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Causé par des variations d'une copie du gène GRIA2, qui code la sous-unité GluA2 du récepteur AMPA au glutamate, lequel transmet des signaux rapides entre les cellules nerveuses. La plupart des variations surviennent de novo.",
            "management": "Accompagnement du développement, de la parole et de la scolarité, avec une évaluation comportementale ; les crises d'épilepsie sont traitées lorsqu'elles surviennent. La plupart des cas surviennent de novo, mais un test parental et un conseil génétique permettent d'évaluer le risque de récurrence.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/gria2-related-neurodevelopmental-disorder"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "clonic-seizure",
        "name": "Clonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clonic-seizure"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "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-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": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years",
        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "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": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "compulsive-behaviors",
        "name": "Obsessive compulsive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/compulsive-behaviors"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "motor-stereotypy",
        "name": "Repetitive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-stereotypy"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "self-injurious-behavior",
        "name": "Self-injurious behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/self-injurious-behavior"
      },
      {
        "slug": "stereotypical-hand-wringing",
        "name": "Stereotypical hand wringing",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/stereotypical-hand-wringing"
      },
      {
        "slug": "tonic-seizure",
        "name": "Tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/tonic-seizure"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}