DPAGT1 - Gene browser

DPAGT1

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

HCNC Approved Symbol: DPAGT1 (HGNC:2995)
Genomic Coordinates: 11:119,093,874 - 119,101,853 (11q23.3)
Synonyms: GPT, D11S366, DGPT, ALG7, CDG-Ij, DPAGT2, DPAGT
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the DPAGT1 gene.

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

04
Patient count

Generalized hypotonia: 4 (100.0%)
Patient Count: 4 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (100.0%)
Global developmental delay: 4 (100.0%)
Patient Count: 4 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (100.0%)
Central hypotonia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Delayed myelination: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Hypotonia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)