CLN8 Chromosome 8

CLN8 transmembrane ER and ERGIC protein
94 variants 94 Health Risk

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What This Gene Does
This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
TLC domain containing
Locus Type
gene with protein product
Location
8p23.3
Ensembl
ENSG00000182372
Associated Conditions (13)
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases
Hepatocellular carcinoma
CLN8-related disorder
See cases
Intellectual disability
Neuronal ceroid lipofuscinosis 1
Seizure
Thyroid cancer
nonmedullary
1
Key Variants
RS1310195190
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant, Neuronal ceroid lipofuscinosis 8
Health Risk
RS138581191
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Hepatocellular carcinoma
Health Risk
RS138821993
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, CLN8-related disorder, Neuronal ceroid lipofuscinosis
Health Risk
RS139003032
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant, Neuronal ceroid lipofuscinosis
Health Risk
RS142269885
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Intellectual disability
Health Risk
RS146579299
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant, Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
Health Risk
RS147181589
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 8
Health Risk
RS148417620
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, CLN8-related disorder
Health Risk
RS149308952
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
Health Risk
RS188259026
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
Health Risk
RS200435861
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
Health Risk
RS201956727
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8, Inborn genetic diseases
Health Risk
All Variants (94)
RSID Category Clinical Significance Conditions
RS765097897 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS104894064 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8 northern epilepsy variant, Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS1057516582 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS1176445102 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1308826929 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS137852883 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS143730802 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1454175058 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1554449047 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS1554449136 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS1801297484 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1801309834 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS192196274 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2129015230 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2130990601 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2130990747 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486437938 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486438692 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486440691 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486441460 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486442031 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS2486442672 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486443393 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486488263 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486488320 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486489059 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS28940569 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS386834138 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS554042394 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS746397087 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS756267448 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS758707781 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS759598033 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS759830733 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS761621368 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS780551031 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS878855053 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS144495588 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8, Inborn genetic diseases
RS1801672516 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS34238807 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834123 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834132 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS386834139 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS750162094 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant, Neuronal ceroid lipofuscinosis 8
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