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
RS1310195190 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant, Neuronal ceroid lipofuscinosis 8
RS138581191 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Hepatocellular carcinoma
RS138821993 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, CLN8-related disorder, Neuronal ceroid lipofuscinosis
RS139003032 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant, Neuronal ceroid lipofuscinosis
RS142269885 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Intellectual disability
RS146579299 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8 northern epilepsy variant, Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS147181589 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 8
RS148417620 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases, CLN8-related disorder
RS149308952 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS188259026 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS200435861 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS201956727 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8, Inborn genetic diseases
RS2129015232 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS368365607 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8, Inborn genetic diseases
RS373957283 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
RS376910635 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases, CLN8-related disorder
RS386834124 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS386834131 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS564074916 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS587779411 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
RS755248868 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS759153401 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8, Inborn genetic diseases
RS762079123 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS766292710 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS768139689 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS774442159 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS777453297 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS886043061 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS104894060 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant, Neuronal ceroid lipofuscinosis
RS1057516867 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1366421988 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554448874 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1554448924 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1554449028 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1554449124 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1554451484 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1554451504 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1801681007 Health Risk Likely pathogenic Seizure, Seizure
RS2129015276 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486436785 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2486488212 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS2486488805 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834125 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834126 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834128 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834130 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
RS386834133 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS386834134 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS386834135 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS746645358 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
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