Locus FAME2 STARD7
Disease ID
FAME2
Gene ID
STARD7
Updated
Jun 15, 2026
v2.22.0
v2.22.0
Other gene loci
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Clinical Links
Bioinformatical Links
Disease
Name Familial adult myoclonic epilepsy 2
Inheritance
Description Finger, hand tremor with later-onset myoclonus and generalised tonic-clonic seizures1 .
Prevalence This repeat expansion is typically found in individuals of European ancestry2 .
Age of Onset Typical: 12-30; Range: 4-603 .
HPO Terms
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Association
Mendelian
Locus
Details Disease caused by novel insertion of pathogenic motif (not found in any controls); size of pathogenic motif observed in two probands ranged from ~274-558 repeats, while the expanded reference motif ranged from 340-3903 .
Detection
Alleles
Ref. Motif Reference motif, reference orientation
AAAAT
Ranges
Benign (ref.) Benign motif, reference orientation
–
Benign (gene) Benign motif, gene orientation
–
Pathogenic (ref.) Pathogenic motif, reference orientation
AAATG
Pathogenic (gene) Pathogenic motif, gene orientation
ATTTC
Unknown (ref.) Unknown motif, reference orientation
AAAAA, AAAAC, AAACC, AAACG, AAACT, AACTC, AACTG, AATAC, AATAG, ATAAC
Unknown (gene) Unknown motif, gene orientation
TTTTT, GTTTT, GGTTT, CGTTT, AGTTT, AGTTG, AGTTC, ATTGT, ATTCT, ATGTT
Interruption (ref.) Interruption motif, reference orientation
–
Interruption (gene) Interruption motif, gene orientation
–
gnomAD
References
Direct supporting references for info on this page.
1
Repeat expansion disorders.
Zhongbo,Chen, Huw R,Morris, James,Polke, Nicholas W,Wood, Sonia,Gandhi, Mina,Ryten, Henry,Houlden, Arianna,Tucci
Practical neurology · 2025-05-15
pmid:393490432
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese
The Lancet. Neurology · 2024-07-01
pmid:388767503
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Mark A,Corbett, Thessa,Kroes, Liana,Veneziano, Mark F,Bennett, Rahel,Florian, Amy L,Schneider, Antonietta,Coppola, Laura,Licchetta, Silvana,Franceschetti, Antonio,Suppa, Aaron,Wenger, Davide,Mei, Manuela,Pendziwiat, Sabine,Kaya, Massimo,Delledonne, Rachel,Straussberg, Luciano,Xumerle, Brigid,Regan, Douglas,Crompton, Anne-Fleur,van Rootselaar, Anthony,Correll, Rachael,Catford, Francesca,Bisulli, Shreyasee,Chakraborty, Sara,Baldassari, Paolo,Tinuper, Kirston,Barton, Shaun,Carswell, Martin,Smith, Alfredo,Berardelli, Renee,Carroll, Alison,Gardner, Kathryn L,Friend, Ilan,Blatt, Michele,Iacomino, Carlo,Di Bonaventura, Salvatore,Striano, Julien,Buratti, Boris,Keren, Caroline,Nava, Sylvie,Forlani, Gabrielle,Rudolf, Edouard,Hirsch, Eric,Leguern, Pierre,Labauge, Simona,Balestrini, Josemir W,Sander, Zaid,Afawi, Ingo,Helbig, Hiroyuki,Ishiura, Shoji,Tsuji, Sanjay M,Sisodiya, Giorgio,Casari, Lynette G,Sadleir, Riaan,van Coller, Marina A J,Tijssen, Karl Martin,Klein, Arn M J M,van den Maagdenberg, Federico,Zara, Renzo,Guerrini, Samuel F,Berkovic, Tommaso,Pippucci, Laura,Canafoglia, Melanie,Bahlo, Pasquale,Striano, Ingrid E,Scheffer, Francesco,Brancati, Christel,Depienne, Jozef,Gecz
Nature communications · 2019-10-29
pmid:316640344
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.
Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman
Nature reviews. Genetics · 2024-03-11
pmid:38467784Additional Literature
Additional literature related to this locus.
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)
Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.
Haruka,Urabe, Takashi,Nakajima, Satomi,Mitsuhashi, Kentaro,Ohta, Hidehiko,Fujinaka, Kiyoe,Goto, Aki,Sato
BMC medical genomics · 2025-11-11
pmid:41219789DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
Akane,Terasaki, Masayuki,Nakamura, Yuka,Urata, Hanae,Hiwatashi, Izumi,Yokoyama, Takeshi,Yasuda, Teiichi,Onuma, Kazumaru,Wada, Sunao,Kaneko, Rumiko,Kan, Shin-Ichi,Niwa, Ohiko,Hashimoto, Osamu,Komure, Yu-Ichi,Goto, Yuko,Yamagishi, Misa,Nakano, Yoshihiko,Furusawa, Akira,Sano
Journal of human genetics · 2020-10-10
pmid:33040085