EIF2AK1 - Gene browser

EIF2AK1

eukaryotic translation initiation factor 2 alpha kinase 1

HCNC Approved Symbol: EIF2AK1 (HGNC:24921)
Genomic Coordinates: 7:6,022,247 - 6,059,175 (7p22.1)
Synonyms: HRI, KIAA1369, hHRI, HCR
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the EIF2AK1 gene.

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

01
Patient count

Brain hypomyelination: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Exaggerated startle response: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Fleshy earlobes: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Generalized hyperreflexia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Generalized hypotonia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)