CLN8

CLN8 transmembrane ER and ERGIC protein

3 disorders 2 causative 1 untyped 8p23.3 gene with protein product

HGNC:2079 Monarch NCBI Gene 2055 ENSG00000182372 UniProt Q9UBY8 OMIM 607837

Previous symbols: EPMR, C8orf61. Aliases: FLJ39417, TLCD6.

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: CLN8 ER transmembrane protein dysfunction; Lysosomal Ceroid-Lipofuscin Storage subtype: CLN8 disease, juvenile-onset EPMR scoped to subtype: CLN8 disease, juvenile-onset EPMR
Neuronal Ceroid Lipofuscinosis	causative	mechanism: CLN Endomembrane Protein Dysfunction subtype: CLN8 Disease scoped to subtype: CLN8 Disease
Northern Epilepsy	untyped Causal biallelic pathogenic variants	mechanism: CLN8 endoplasmic reticulum cargo-receptor dysfunction

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 2020-09-07	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.