OPML1 NUTM2B-AS1

Benign range (3-16 repeats) established in 1000 controls, studied alongside pathogenic probands of up to 700 repeats³. Pathogenicity occurs at repeats as short as 161 motifs^4,5, while intermediate alleles may correlate to milder phenotypes⁴. Alt transcript in opposite direction: LOC642361.

Mechanism

GoF?

RNA mediated toxicity hypothesized, overall mechanism unknown^6,7.

Year

2019³

Location in Gene

Exon 1 (noncoding)

Gene Strand

Alleles

Ref. Motif

GGC

Pathogenic (ref.)

GGC

Pathogenic (gene)

CGG

gnomAD

References

Direct supporting references for info on this page.

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:38876750

Repeat expansion disorders.

Zhongbo,Chen, Huw R,Morris, James,Polke, Nicholas W,Wood, Sonia,Gandhi, Mina,Ryten, Henry,Houlden, Arianna,Tucci

Practical neurology · 2024-09-30

pmid:39349043

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.

Hiroyuki,Ishiura, Shota,Shibata, Jun,Yoshimura, Yuta,Suzuki, Wei,Qu, Koichiro,Doi, M Asem,Almansour, Junko Kanda,Kikuchi, Makiko,Taira, Jun,Mitsui, Yuji,Takahashi, Yaeko,Ichikawa, Tatsuo,Mano, Atsushi,Iwata, Yasuo,Harigaya, Miho Kawabe,Matsukawa, Takashi,Matsukawa, Masaki,Tanaka, Yuichiro,Shirota, Ryo,Ohtomo, Hisatomo,Kowa, Hidetoshi,Date, Aki,Mitsue, Hiroyuki,Hatsuta, Satoru,Morimoto, Shigeo,Murayama, Yasushi,Shiio, Yuko,Saito, Akihiko,Mitsutake, Mizuho,Kawai, Takuya,Sasaki, Yusuke,Sugiyama, Masashi,Hamada, Gaku,Ohtomo, Yasuo,Terao, Yoshihiko,Nakazato, Akitoshi,Takeda, Yoshio,Sakiyama, Yumi,Umeda-Kameyama, Jun,Shinmi, Katsuhisa,Ogata, Yutaka,Kohno, Shen-Yang,Lim, Ai Huey,Tan, Jun,Shimizu, Jun,Goto, Ichizo,Nishino, Tatsushi,Toda, Shinichi,Morishita, Shoji,Tsuji

Nature genetics · 2019-07-22

pmid:31332380

CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy.

Yan,Shi, Chunyan,Cao, Yiheng,Zeng, Yuanliang,Ding, Long,Chen, Fuze,Zheng, Xuejiao,Chen, Fanggui,Zhou, Xiefeng,Yang, Jinjing,Li, Liuqing,Xu, Guorong,Xu, Minting,Lin, Hiroyuki,Ishiura, Shoji,Tsuji, Ning,Wang, Zhiqiang,Wang, Wan-Jin,Chen, Kang,Yang

Journal of genetics and genomics = Yi chuan xue bao · 2023-12-29

pmid:38159879

Non-coding CGG repeat expansion in

Xinyu,Gu, Jiaxi,Yu, Kexin,Jiao, Jianwen,Deng, Xingyu,Xia, Kai,Qiao, Dongyue,Yue, Mingshi,Gao, Chongbo,Zhao, Jihong,Dong, Gongchun,Huang, Jingli,Shan, Chuanzhu,Yan, Li,Di, Yuwei,Da, Wenhua,Zhu, Jianying,Xi, Zhaoxia,Wang

Journal of medical genetics · 2024-03-21

pmid:37923380

omim:618637

Clinical and neuroimaging review of triplet repeat diseases.

Ryo,Kurokawa, Mariko,Kurokawa, Akihiko,Mitsutake, Moto,Nakaya, Akira,Baba, Yasuhiro,Nakata, Toshio,Moritani, Osamu,Abe

Japanese journal of radiology · 2022-09-28

pmid:36169768

Additional 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)

CGG/CCG Repeat Expansions in

Sunsanee,Pongpakdee, Metha,Apiwattanakul, Thanes,Termglinchan, Rawiphan,Witoonpanich, Charungthai,Dejthevaporn, Theeraphong,Lee, Supika,Wansophonkul, Ai,Yamanaka, Shunsuke,Funaguma, Aritoshi,Lida, Ichizo,Nishino

Neurology. Genetics · 2024-07-08

pmid:39308795

GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders.

Yu,Fan, Si,Shen, Jing,Yang, Dabao,Yao, Mengjie,Li, Chengyuan,Mao, Yunchao,Wang, Xiaoyan,Hao, Dongrui,Ma, Jiadi,Li, Jingjing,Shi, Mengnan,Guo, Shuangjie,Li, Yanpeng,Yuan, Fen,Liu, Zhihua,Yang, Shuo,Zhang, Zhengwei,Hu, Liyuan,Fan, Han,Liu, Chan,Zhang, Yanlin,Wang, Qingzhi,Wang, Hong,Zheng, Ying,He, Bo,Song, Yuming,Xu, Changhe,Shi

Annals of neurology · 2022-03-08

pmid:35152460