GNPTAB - Gene browser

GNPTAB

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

HCNC Approved Symbol: GNPTAB (HGNC:29670)
Genomic Coordinates: 12:101,745,499 - 101,830,959 (12q23.2)
Synonyms: KIAA1208, MGC4170, GNPTA
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

21Patients

In total, 21 patients were diagnosed with a variant in the GNPTAB gene.

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

021
Patient count

Inguinal hernia: 5 (23.8%)
Patient Count: 5 (23.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (23.8%)
Global developmental delay: 5 (23.8%)
Patient Count: 5 (23.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (23.8%)
Coarse facies: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Micrognathia: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Brachycephaly: 3 (14.3%)
Patient Count: 3 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (14.3%)