3billion
back to listBack to List

ERLIN2

ER lipid raft associated 2

HCNC Approved Symbol
ERLIN2 (HGNC:1356)
Genomic Coordinates
8:37,736,634 - 37,758,422 (8p11.23)
Synonyms
NET32, Erlin-2, C8orf2, SPFH2, SPG18
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the ERLIN2 gene.

Frequently observed phenotypes

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

Deterioration of motor development
 2 (66.7%)
Hypoglycorrhachia
 2 (66.7%)
Motor delay
 2 (66.7%)
Spastic quadriplegia
 2 (66.7%)
Spastic tetraplegia
 2 (66.7%)
ERLIN2 - Gene browser | 3billion