SLC16A2 - Gene browser

SLC16A2

solute carrier family 16 member 2

HCNC Approved Symbol: SLC16A2 (HGNC:10923)
Genomic Coordinates: 23:74,421,493 - 74,533,916 (Xq13.2)
Synonyms: XPCT, MCT8, MCT7, DXS128E, DXS128, AHDS, MRX22
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the SLC16A2 gene.

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

011
Patient count

Global developmental delay: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Hypotonia: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Seizures: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Ankle clonus: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Dystonia: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)