FAME7_RAPGEF2
- Gene
- RAPGEF2
- Disease
- FAME7
- Inheritance
- AD
- Classification
- Limited
- Total Score
- 3
- Publications Reviewed
- 2
- Publication Span
- 0.91 years
- Last Updated
- 08/14/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Description
Intronic TTTCA repeat expansions in RAPGEF2 have been reported in autosomal dominant familial adult myoclonic epilepsy/familial cortical myoclonic tremor with epilepsy (FAME7/BAFME7/FCMTE). Evidence includes one Japanese BAFME family (F8241) with a RAPGEF2 intron 14 TTTCA expansion confirmed by WGS, RP-PCR and Southern blot, and one Chinese FCMTE family with RAPGEF2 TTTCA expansion detected by RP-PCR. Expanded TTTCA repeats in RAPGEF2 were absent from tested controls, but no RAPGEF2-specific experimental evidence has been reported; current classification remains Limited.
Genetic evidence
Total: 3
| Singular Evidence | Probands | PMID:30351492 PMID:29507423 | 2 | Two unrelated autosomal dominant FAME/BAFME/FCMTE families with RAPGEF2 intronic TTTCA repeat expansions: Japanese family F8241 with one affected proband confirmed by WGS, RP-PCR and Southern blot, and Chinese family 3 with three affected individuals carrying ~60 TTTCA repeats by RP-PCR. No RAPGEF2-specific functional evidence was reported. |
| Collective Evidence | Allele | PMID:30351492 | 1 | RAPGEF2 disease alleles in Chinese family 3 carried an expanded TTTCA motif (~60 repeats) without detectable TTTTA expansion; expanded TTTCA/TTTTA repeats in SAMD12 or RAPGEF2 were absent from 116 control alleles. |
Experimental evidence
Total: 0
No experimental evidence details available.
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.