CERS1 - Gene browser

CERS1

ceramide synthase 1

HCNC Approved Symbol: CERS1 (HGNC:14253)
Genomic Coordinates: 19:18,868,545 - 18,896,982 (19p13.11)
Synonyms: LAG1, UOG1, LASS1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the CERS1 gene.

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

03
Patient count

Epilepsy: 3 (100.0%)
Patient Count: 3 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (100.0%)
Ataxic gait: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Dystonia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Gait ataxia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Intellectual disability: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)