FAME6_TNRC6A
- Gene
- TNRC6A
- Disease
- FAME6
- Inheritance
- AD
- Classification
- Limited
- Total Score
- 3
- Publications Reviewed
- 1
- Publication Span
- Last Updated
- 08/14/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Description
FAME6/BAFME6 is an autosomal dominant familial adult myoclonic epilepsy phenotype associated with noncoding TTTCA and TTTTA repeat expansions in TNRC6A. PMID:29507423 identified TNRC6A expansions in one BAFME family (F9283), confirmed the repeat configuration by RP-PCR and Southern blot, and reported co-segregation in five affected individuals and one unaffected individual. TTTCA-repeat expansions in TNRC6A were absent from 1,000 control subjects, while TTTTA-only expansions were observed rarely in controls, supporting the TTTCA-containing expanded allele as the disease-relevant motif.
Genetic evidence
Total: 2.5
| Singular Evidence | Probands | PMID:29507423 | 1.5 | One unrelated BAFME6 family (F9283) with five affected individuals carried TNRC6A TTTCA/TTTTA repeat expansions; the expanded allele was validated by RP-PCR and Southern blot and co-segregated with disease. |
| Collective Evidence | Allele | PMID:29507423 | 1 | TNRC6A TTTCA-repeat expansions were absent in 1,000 controls and in patients with SAMD12 expansions; TTTTA-only expansions occurred rarely in controls, supporting the TTTCA-containing expanded motif as disease-relevant. |
Experimental evidence
Total: 0.5
| Function | Regulatory impact | PMID:29507423 | 0.5 |
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.