SLC2A1 - Gene browser

SLC2A1

solute carrier family 2 member 1

HCNC Approved Symbol: SLC2A1 (HGNC:11005)
Genomic Coordinates: 1:42,925,353 - 42,958,868 (1p34.2)
Synonyms: DYT18, DYT9, GLUT-1, GLUT1, GLUT, HTLVR, CSE
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the SLC2A1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

013
Patient count

Epilepsy: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Microcephaly: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Intellectual disability: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Seizures: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Global developmental delay: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)