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NARS1

asparaginyl-tRNA synthetase 1

HCNC Approved Symbol
NARS1 (HGNC:7643)
Genomic Coordinates
18:57,600,656 - 57,621,836 (18q21.31)
Synonyms
AsnRS, NARS
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive
619091AR
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant
619092AD

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the NARS1 gene.

Frequently observed phenotypes

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

Seizures
 4 (40.0%)
Mental retardation
 3 (30.0%)
Hepatic cirrhosis
 2 (20.0%)
Hypoglycemia
 2 (20.0%)
Gait disturbance
 2 (20.0%)