TRIM8 Chromosome 10
Tripartite motif containing 8
Upload your DNA to see your personal genotypes for variants in TRIM8.
What This Gene Does
This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"Ring finger proteins|Tripartite motif family"
Locus Type
gene with protein product
Location
10q24.32
Ensembl
ENSG00000171206
Associated Conditions (6)
Inborn genetic diseases
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
Focal segmental glomerulosclerosis
Seizure
Neurodevelopmental delay
TRIM8-related epileptic encephalopathy
Key Variants
RS1057320759
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1229805074
Conflicting classifications of pathogenicity
Health Risk
RS1277413183
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1342959414
Conflicting classifications of pathogenicity
Inborn genetic diseases, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Inborn genetic diseases
Health Risk
RS1356513635
Conflicting classifications of pathogenicity
Health Risk
RS143506858
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200885195
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2492888641
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2492909379
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
Health Risk
RS372655822
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS552806334
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Inborn genetic diseases, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
Health Risk
RS745808344
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057320759 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1229805074 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1277413183 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1342959414 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Inborn genetic diseases |
| RS1356513635 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143506858 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200885195 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2492888641 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2492909379 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome |
| RS372655822 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS552806334 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Inborn genetic diseases, Focal segmental glomerulosclerosis and neurodevelopmental syndrome |
| RS745808344 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751366915 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769518997 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770405178 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1387656757 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis, Seizure, Neurodevelopmental delay |
| RS2492914801 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome |
| RS2492914988 | Health Risk | Likely pathogenic | — |
| RS2492916342 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome |
| RS1386357224 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome |
| RS2064030791 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome |
| RS2064030858 | Health Risk | Pathogenic | Neurodevelopmental delay, Focal segmental glomerulosclerosis, Seizure |
| RS2064032086 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome |
| RS2135984894 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome |
| RS2135984958 | Health Risk | Pathogenic | Neurodevelopmental delay, Focal segmental glomerulosclerosis, Seizure |
| RS2135985089 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome |
| RS772349788 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome |
| RS2135984840 | Health Risk | Pathogenic/Likely pathogenic | Seizure, Focal segmental glomerulosclerosis, Neurodevelopmental delay |
| RS2135984949 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Neurodevelopmental delay, Focal segmental glomerulosclerosis |
| RS2135985076 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Seizure, Focal segmental glomerulosclerosis |
| RS2135985150 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Seizure, Focal segmental glomerulosclerosis |
| RS866294686 | Health Risk | Pathogenic/Likely pathogenic | TRIM8-related epileptic encephalopathy, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Inborn genetic diseases |