GCNT2 - Gene browser

GCNT2

glucosaminyl (N-acetyl) transferase 2 (I blood group)

HCNC Approved Symbol: GCNT2 (HGNC:4204)
Genomic Coordinates: 6:10,521,351 - 10,629,368 (6p24.3-p24.2)
Synonyms: IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3, NACGT1, II, GCNT5, CCAT
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the GCNT2 gene.

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

01
Patient count

Cataract, congenital: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Microcephaly: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Microphthalmia, bilateral: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Nystagmus: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Squint eyes: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)