ATP8A2 - Gene browser

ATP8A2

ATPase phospholipid transporting 8A2

HCNC Approved Symbol: ATP8A2 (HGNC:13533)
Genomic Coordinates: 13:25,371,974 - 26,025,851 (13q12.13)
Synonyms: ATPIB, ML-1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the ATP8A2 gene.

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

010
Patient count

Developmental delay: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)
Global developmental delay: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Delayed gross motor development: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Increased t3/t4 ratio: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Strabismus: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)