SLC12A5

SLC12A5

solute carrier family 12 member 5

HCNC Approved Symbol: SLC12A5 (HGNC:13818)
Genomic Coordinates: 20:46,021,686 - 46,060,150 (20q13.12)
Synonyms: KIAA1176, KCC2, hKCC2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the SLC12A5 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Delayed development: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Epilepsy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30