3billion
back to listBack to List

GLS

glutaminase

HCNC Approved Symbol
GLS (HGNC:4331)
Genomic Coordinates
2:190,880,821 - 190,965,552 (2q32.2)
Synonyms
KIAA0838, GLS1, GAC, GAM, KGA
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
618339AD
Developmental and epileptic encephalopathy 71
618328AR
Global developmental delay, progressive ataxia, and elevated glutamine
618412AR

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the GLS gene.

Frequently observed phenotypes

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

Seizure
 2 (66.7%)
Abnormal corpus callosum morphology
 1 (33.3%)
Abnormal thalamic mri signal intensity
 1 (33.3%)
Absent reflexes
 1 (33.3%)
Areflexia
 1 (33.3%)