3billion
back to listBack to List

GNE

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

HCNC Approved Symbol
GNE (HGNC:23657)
Genomic Coordinates
9:36,214,441 - 36,276,978 (9p13.3)
Synonyms
Uae1, IBM2
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Nonaka myopathy
605820AR
Sialuria
269921AD
Thrombocytopenia 12 with or without myopathy
620757AR

Diagnosed Cases

20Patients

In total, 20 patients were diagnosed with a variant in the GNE gene.

Frequently observed phenotypes

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

Distal muscle weakness
 5 (25.0%)
Muscle weakness
 3 (15.0%)
Myopathy
 3 (15.0%)
Peripheral neuropathy
 
2 (10.0%)
Tetraparesis
 
2 (10.0%)