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CLN6

CLN6 transmembrane ER protein

HCNC Approved Symbol
CLN6 (HGNC:2077)
Genomic Coordinates
15:68,206,992 - 68,257,211 (15q23)
Synonyms
FLJ20561, HsT18960, nclf
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the CLN6 gene.

Frequently observed phenotypes

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

Leukodystrophy
 5 (41.7%)
Seizures
 5 (41.7%)
Ataxia
 3 (25.0%)
Developmental regression
 3 (25.0%)
Epilepsy
 2 (16.7%)
CLN6 - Gene browser | 3billion