POMGNT1 - Gene browser

POMGNT1

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

HCNC Approved Symbol: POMGNT1 (HGNC:19139)
Genomic Coordinates: 1:46,188,683 - 46,220,305 (1p34.1)
Synonyms: FLJ20277, MGAT1.2, LGMD2O, MEB
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

11Patients

In total, 11 patients were diagnosed with a variant in the POMGNT1 gene.

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

011
Patient count

Intellectual disability: 6 (54.5%)
Patient Count: 6 (54.5%)
% of total patients presenting each phenotype is shown in parentheses.
6 (54.5%)
Cataract: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Muscle weakness: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Retinitis pigmentosa: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Elevated serum cpk: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)