ELOVL5 - Gene browser | 3billion

ELOVL5

ELOVL5

ELOVL fatty acid elongase 5

HCNC Approved Symbol: ELOVL5 (HGNC:21308)
Genomic Coordinates: 6:53,267,404 - 53,348,950 (6p12.1)
Synonyms: HELO1, dJ483K16.1, SCA38
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the ELOVL5 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Dysmetria: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Gaze-evoked nystagmus: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Spastic ataxia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

ELOVL5 - Gene browser | 3billion