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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.
View More Disease Info
Disease NameOMIM IDInheritance
Ceroid lipofuscinosis, neuronal, 6A
601780AR
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
204300AR

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%)