Curation FAME7 RAPGEF2

Gene RAPGEF2

Disease FAME7

Inheritance AD

Score

3 + 0 = 3 / 18

Genetic + experimental = total

Classification

Limited

Refuted

Moderate

Definitive

Last Updated 08/14/2025

Pubs Reviewed 2

Publication Span 0.91 years

Publication Interval 0.91 years

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.

All criTRia Curations Locus Page

Genetic evidence

Total: 3

Per page

Category	Type	Citation	Score	Details
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.

Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.