ClinGen Dosage Sensitivity Curation Page

GRID1

  • Curation Status: Complete

Location Information

  • 10q23.1-q23.2
  • GRCh37/hg19 chr10: 87,359,312-88,126,250
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr10: 85,599,555-86,366,493
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000010.10) (NC_000010.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

PMID: 21248748 van Bon (2011): Multiple probands with large deletions encompassing many genes are described. The deletions were associated with developmental delay, mainly affecting speech, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia. One proband (patient 7) had a 3 exon in-frame deletion in GRID1 of unknown inheritance. The authors suggest possible dominant negative effect. PMID:20345475 Alliman (2010): 6 patients with recurrent ~7 Mb deletion and dysmorphic features such as macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

PMID: 21248748 van Bon (2011): Multiple probands with large duplications encompassing many genes are described. Patients have a distinct facial appearance and delays in speech and motor development. However, the phenotypic spectrum is broad, and duplications have also been found in healthy family members.