SLC22A5 - Gene browser

SLC22A5

solute carrier family 22 member 5

HCNC Approved Symbol: SLC22A5 (HGNC:10969)
Genomic Coordinates: 5:132,369,710 - 132,395,612 (5q31.1)
Synonyms: OCTN2, SCD, CDSP
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the SLC22A5 gene.

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

06
Patient count

Carnitine deficiency: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Methylmalonic aciduria: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Global developmental delay: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Hepatomegaly: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Abnormality of the basal ganglia: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)