GRID1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GRID1 (HGNC:4575) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glutamate ionotropic receptor delta type subunit 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
GluD1, KIAA1220
%HI
13.06(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.4(Read more about gnomAD LOEUF score)
Cytoband
10q23.1-q23.2
Genomic Coordinates
GRCh37/hg19: chr10:87359309-88126552 NCBI Ensembl UCSC
GRCh38/hg38: chr10:85599552-86366795 NCBI Ensembl UCSC
MANE Select Transcript
NM_017551.3 ENST00000327946.12 (Read more about MANE Select)
Function
Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20071
ClinGen Curation ID:
CCID:007250
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
12/21/2011

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence 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 (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
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.

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)