FAME6_TNRC6A
Gene
TNRC6A
Disease
FAME6
Inheritance
AD
Classification
Limited
Total Score
2.7
Publications Reviewed
1
Publication Span
Last Updated
08/14/2025
Curator(s)
Macayla Weiner, Laurel Hiatt, Harriet Dashnow

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.

All CriTRia Curations

Genetic evidence

Total: 2.5

Singular EvidenceProbandsPMID:295074231.5One 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 EvidenceAllelePMID:295074231TNRC6A 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.
2 rows

Experimental evidence

Total: 0.2

FunctionRegulatory impactPMID:295074230.2In the supplementary materials of pmid:29507423 RNA-seq data from control brains show that TNRC6A is transcribed with spliced transcripts flanking the repeat, and RT-PCR confirms expression in brain and other tissues; however, no differential expression or regulatory effect of the repeat expansion is demonstrated. Downgraded score to 0.2 as the evidence does not assess the impact of the expansion on gene function.
1 rows

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.