CLN6

CLN6 transmembrane ER protein

3 disorders 2 causative 1 untyped 15q23 gene with protein product

HGNC:2077 Monarch NCBI Gene 54982 ENSG00000128973 UniProt Q9NWW5 OMIM 606725

Aliases: FLJ20561, HsT18960, nclf.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Juvenile Neuronal Ceroid Lipofuscinosis	causative germline	mechanism: CLN6 ER transmembrane protein dysfunction; Lysosomal Ceroid-Lipofuscin Storage subtype: CLN6 disease, late juvenile onset scoped to subtype: CLN6 disease, late juvenile onset
Neuronal Ceroid Lipofuscinosis	causative	mechanism: CLN Endomembrane Protein Dysfunction subtype: CLN6 Disease scoped to subtype: CLN6 Disease
Adult Neuronal Ceroid Lipofuscinosis	untyped Pathogenic Variants	mechanism: CLN6 EGRESS Complex Lysosomal Enzyme Trafficking Defect subtype: CLN6 Kufs A scoped to subtype: CLN6 Kufs A

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
neuronal ceroid lipofuscinosis MONDO:0016295	AR	Definitive 2020-12-01	Neuronal Ceroid Lipofuscinosis causative

Mechanism modules · computed from kb/

lysosomal_substrate_accumulation via Juvenile Neuronal Ceroid Lipofuscinosis

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.