PGAP3 - Gene browser

PGAP3

post-GPI attachment to proteins phospholipase 3

HCNC Approved Symbol: PGAP3 (HGNC:23719)
Genomic Coordinates: 17:39,671,122 - 39,688,057 (17q12)
Synonyms: MGC9753, CAB2, PP1498, PER1, PERLD1
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 PGAP3 gene.

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

010
Patient count

Global developmental delay: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)
Intellectual disability: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Dysmorphism: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Stereotypy: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Dysmorphic facial features: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)