ERLIN2 - Gene browser

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.

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

03
Patient count

Deterioration of motor development: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Hypoglycorrhachia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Motor delay: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Spastic quadriplegia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Spastic tetraplegia: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)