Locus FAME6 TNRC6A
Disease ID
FAME6
Gene ID
TNRC6A
Updated
Jun 15, 2026
v2.22.0
v2.22.0
Other gene loci
–
Clinical Links
Bioinformatical Links
Disease
Name Familial adult myoclonic epilepsy type 6
Inheritance
Description Cortical tremor, seizures with generalised motor (tonic-clonic) onset1 .
Prevalence FAME overall is 1/35,000 in Japan. This repeat expansion is typically found in individuals of East Asian ancestry1 .
Age of Onset Limited clinical details from one family, 'early 20s to 70s'
HPO Terms
–
Association
Mendelian
Locus
Details Novel, reported pathogenic alleles: (TTTTA)22 (TTTCA)exp (TTTTA)exp, but only the TTTCA is specific to affected individuals (size: 1100 repeats). Non-pathogenic reference TTTTA repeat was expanded in nine healthy subjects 40-120 repeats and in two individuals was potentially even longer2 .
Detection
Alleles
Ref. Motif Reference motif, reference orientation
TTTTA
Ranges
Benign (ref.) Benign motif, reference orientation
–
Benign (gene) Benign motif, gene orientation
–
Pathogenic (ref.) Pathogenic motif, reference orientation
TTTCA
Pathogenic (gene) Pathogenic motif, gene orientation
ATTTC
Unknown (ref.) Unknown motif, reference orientation
TTTTT
Unknown (gene) Unknown motif, gene orientation
TTTTT
Interruption (ref.) Interruption motif, reference orientation
–
Interruption (gene) Interruption motif, gene orientation
–
gnomAD
References
Direct supporting references for info on this page.
1
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:388767502
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Hiroyuki,Ishiura, Koichiro,Doi, Jun,Mitsui, Jun,Yoshimura, Miho Kawabe,Matsukawa, Asao,Fujiyama, Yasuko,Toyoshima, Akiyoshi,Kakita, Hitoshi,Takahashi, Yutaka,Suzuki, Sumio,Sugano, Wei,Qu, Kazuki,Ichikawa, Hideaki,Yurino, Koichiro,Higasa, Shota,Shibata, Aki,Mitsue, Masaki,Tanaka, Yaeko,Ichikawa, Yuji,Takahashi, Hidetoshi,Date, Takashi,Matsukawa, Junko,Kanda, Fumiko Kusunoki,Nakamoto, Mana,Higashihara, Koji,Abe, Ryoko,Koike, Mutsuo,Sasagawa, Yasuko,Kuroha, Naoya,Hasegawa, Norio,Kanesawa, Takayuki,Kondo, Takefumi,Hitomi, Masayoshi,Tada, Hiroki,Takano, Yutaka,Saito, Kazuhiro,Sanpei, Osamu,Onodera, Masatoyo,Nishizawa, Masayuki,Nakamura, Takeshi,Yasuda, Yoshio,Sakiyama, Mieko,Otsuka, Akira,Ueki, Ken-Ichi,Kaida, Jun,Shimizu, Ritsuko,Hanajima, Toshihiro,Hayashi, Yasuo,Terao, Satomi,Inomata-Terada, Masashi,Hamada, Yuichiro,Shirota, Akatsuki,Kubota, Yoshikazu,Ugawa, Kishin,Koh, Yoshihisa,Takiyama, Natsumi,Ohsawa-Yoshida, Shoichi,Ishiura, Ryo,Yamasaki, Akira,Tamaoka, Hiroshi,Akiyama, Taisuke,Otsuki, Akira,Sano, Akio,Ikeda, Jun,Goto, Shinichi,Morishita, Shoji,Tsuji
Nature genetics · 2018-03-05
pmid:295074233
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:41219789ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10.
C Alejandra,Morato Torres, Faria,Zafar, Yu-Chih,Tsai, Jocelyn Palafox,Vazquez, Michael D,Gallagher, Ian,McLaughlin, Karl,Hong, Jill,Lai, Joyce,Lee, Amanda,Chirino-Perez, Angel Omar,Romero-Molina, Francisco,Torres, Juan,Fernandez-Ruiz, Tetsuo,Ashizawa, Janet,Ziegle, Francisco Javier,Jiménez Gil, Birgitt,Schüle
HGG advances · 2022-08-15
pmid:36092952DNA 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:33040085Intronic (TTTGA)
Zhidong,Cen, You,Chen, Dehao,Yang, Qingchen,Zhu, Si,Chen, Xinhui,Chen, Bo,Wang, Fei,Xie, Zhiyuan,Ouyang, Zhengwen,Jiang, Aisi,Fu, Ben,Hu, Houmin,Yin, Xia,Qiu, Feng,Yu, Xiaoping,Du, Weicheng,Hao, Yuxi,Liu, Haotian,Wang, Lebo,Wang, Xiafei,Yu, Yichuan,Xiao, Chunyu,Liu, Jianfeng,Xiao, Yongxing,Zhou, Wei,Yang, Baorong,Zhang, Wei,Luo
Movement disorders : official journal of the Movement Disorder Society · 2019-09-04
pmid:31483537TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy.
X X,Lei, Q,Liu, Q,Lu, Y,Huang, X Q,Zhou, H Y,Sun, L W,Wu, L Y,Cui, X,Zhang
European journal of neurology · 2018-11-30
pmid:30351492Mechanism of allele-selective inhibition of huntingtin expression by duplex RNAs that target CAG repeats: function through the RNAi pathway.
Jiaxin,Hu, Jing,Liu, Dongbo,Yu, Yongjun,Chu, David R,Corey
Nucleic acids research · 2012-10-04
pmid:23042244