SLC2A1
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC2A1 (HGNC:11005) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 2 member 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GLUT1, GLUT, HTLVR, CSE
Alias symbols
DYT18, DYT9, GLUT-1
%HI
9.56(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.14(Read more about gnomAD LOEUF score)
Cytoband
1p34.2
Genomic Coordinates
GRCh37/hg19: chr1:43391024-43424539 NCBI Ensembl UCSC
GRCh38/hg38: chr1:42925353-42958868 NCBI Ensembl UCSC
MANE Select Transcript
NM_006516.4 ENST00000426263.10 (Read more about MANE Select)
Function
Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:10227690). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain (Pu... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-666
ClinGen Curation ID:
CCID:007872
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/24/2016

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • childhood onset GLUT1 deficiency syndrome 2 Monarch
HI Evidence:
  • PUBMED: 10980529
    Children presenting with infantile seizures, acquired microcephaly, and developmental delay were found to have novel heterozygous mutations in the GLUT1 (SLC2A1). Mutations included complete gene deletion, nonsense, splicing, frameshift and missense.
  • PUBMED: 25532859
    SLC2A1 mutations were found in 2 of 93 children with generalized epilepsy. One had a de novo deletion in exon 4 resulting in a premature stop with myoclonic atonic seizures, and the other (Patient 2), an inherited paternal missense mutation with idiopathic generalized epilepsy . The father of Patient 2 presented with paroxysmal excercise induced dyskinesia (PED) and no history of seizures. The monozygotic father's twin brother had epileptic seizures and PED. Causal mutations are most likely to be found in early onset absence epilepsy.
  • PUBMED: 25564316
    An Italian study found that sporadic GLUT1 deficiency tended to be more severe than familial mutations. The familial cases were all missense and the sporadic cases were both missense and frameshift/splicing or nonsense.
HI Evidence Comments:
PMID: 20129935 This paper describes the mutation spectrum of patients with GLUT1 deficiency. Multiple exon deletions were found in 11% of patients and these patients had the more severe, classical phenotype as compared to patients with missense mutations. Inactivating mutations were more likely to be associated with severe MR, movement disorder and early onset epilepsy. The authors recommend MLPA analysis for all suspected cases of GLUT1 deficiency.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)