POMGNT2 - Gene browser

POMGNT2

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

HCNC Approved Symbol: POMGNT2 (HGNC:25902)
Genomic Coordinates: 3:43,079,234 - 43,106,079 (3p22.1)
Synonyms: FLJ14566, AGO61, C3orf39, GTDC2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the POMGNT2 gene.

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

02
Patient count

Facial dysmorphism: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Growth delay: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Psychomotor delay: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Septo-optic dysplasia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Spasticity: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)