GRIK2 - Gene browser

GRIK2

glutamate ionotropic receptor kainate type subunit 2

HCNC Approved Symbol: GRIK2 (HGNC:4580)
Genomic Coordinates: 6:101,393,708 - 102,070,083 (6q16.3)
Synonyms: GluK2, MRT6, GluR-6, EAA4, GLUK6, GLUR6
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the GRIK2 gene.

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

03
Patient count

Motor delay: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Autism spectrum disorder: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Carnitine levels abnormal: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Chronic diarrhea: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Decreased plasma carnitine: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)