AGPAT2 - Gene browser

AGPAT2

1-acylglycerol-3-phosphate O-acyltransferase 2

HCNC Approved Symbol: AGPAT2 (HGNC:325)
Genomic Coordinates: 9:136,673,143 - 136,687,457 (9q34.3)
Synonyms: LPAAT-beta, LPLAT2, BSCL
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the AGPAT2 gene.

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

02
Patient count

Hepatomegaly: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Abnormal palmar creases: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Advanced bone age: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Atria septal defect: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Broad forehead: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)