SPTLC2 - Gene browser | 3billion

SPTLC2

SPTLC2

serine palmitoyltransferase long chain base subunit 2

HCNC Approved Symbol: SPTLC2 (HGNC:11278)
Genomic Coordinates: 14:77,505,997 - 77,616,637 (14q24.3)
Synonyms: KIAA0526, LCB2, LCB2A, hLCB2a
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 SPTLC2 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

Pes cavus: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Polyneuropathy: 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

SPTLC2 - Gene browser | 3billion