Locus OPDM4 RILPL1
Disease ID
OPDM4
Gene ID
RILPL1
Updated
Oct 2, 2026
v2.27.0
v2.27.0
Other gene loci
–
Clinical Links
Disease
NameOculopharyngodistal myopathy type 4
Inheritance
DescriptionPtosis, external ophthalmoplegia, facial weakness, and pharyngeal and distal limb weakness1 .
Prevalence
HPO Terms
HP:0000183 Tongue muscle weaknessHP:0000218 High palateHP:0000301 Abnormality of facial musculatureHP:0000408 Progressive sensorineural hearing impairmentHP:0000508 PtosisHP:0000544 External ophthalmoplegiaHP:0000590 Progressive external ophthalmoplegiaHP:0000597 OphthalmoparesisHP:0000651 DiplopiaHP:0001260 DysarthriaHP:0001284 AreflexiaHP:0001288 Gait disturbanceHP:0001337 TremorHP:0001604 Vocal cord paresisHP:0001611 Hypernasal speechHP:0001824 Weight lossHP:0002015 DysphagiaHP:0002058 Myopathic faciesHP:0002091 Restrictive ventilatory defectHP:0002100 Recurrent aspiration pneumoniaHP:0002174 Postural tremorHP:0002460 Distal muscle weaknessHP:0002465 Poor speechHP:0002505 Loss of ambulationHP:0002705 High, narrow palateHP:0002747 Respiratory insufficiency due to muscle weaknessHP:0003236 Elevated circulating creatine kinase activityHP:0003458 EMG: myopathic abnormalitiesHP:0003557 Increased variability in muscle fiber diameterHP:0003736 Autophagic vacuolesHP:0003805 Rimmed vacuolesHP:0007149 Distal upper limb amyotrophyHP:0007838 Progressive ptosisHP:0008376 Nasal dysarthriaHP:0008756 Bowing of the vocal cordsHP:0008944 Distal lower limb amyotrophyHP:0008959 Distal upper limb muscle weaknessHP:0008963 Tibialis muscle weaknessHP:0009027 Foot dorsiflexor weaknessHP:0009053 Distal lower limb muscle weaknessHP:0009063 Progressive distal muscle weaknessHP:0009073 Progressive proximal muscle weaknessHP:0012548 Fatty replacement of skeletal muscleHP:0030192 Fatigable weakness of bulbar musclesHP:0030319 Weakness of facial musculatureHP:0031162 Impaired oropharyngeal swallow responseHP:0200136 Oral-pharyngeal dysphagiaHP:0430015 Abnormal morphology of musculature of pharynxHP:3000005 Abnormality of masseter muscle
Association
Mendelian
Locus
DetailsBenign alleles have been documented to have 6-16 repeats4 , while pathogenic repeats range from 120 to 197 repeats; there is no apparent relationship between allele size and age of onset4,2 . Intermediate alleles may be associated with incomplete penetrance, or milder phenotypes2 . AGG, TGG, and CGT interruptions observed2,3 .
MechanismPolyglutamine expansion leading to RNA-mediated gain-of-function mechanism5 .
GoF
Detection
Year
Year first published
20222
Location in Gene
5' UTR
Gene Strand
Alleles
Ref. Motif Reference motif, reference orientation
CGG
Ranges
Benign (ref.) Benign motif, reference orientation
–
Benign (gene) Benign motif, gene orientation
–
Pathogenic (ref.) Pathogenic motif, reference orientation
CGG
Pathogen. (gene) Pathogenic motif, gene orientation
CCG
Unknown (ref.) Unknown motif, reference orientation
–
Unknown (gene) Unknown motif, gene orientation
–
Interruption (ref.) Interruption motif, reference orientation
GGT, CGT, AGG
Interrup. (gene) Interruption motif, gene orientation
ACC, ACG, CCT
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
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Jiaxi,Yu, Jingli,Shan, Meng,Yu, Li,Di, Zhiying,Xie, Wei,Zhang, He,Lv, Lingchao,Meng, Yiming,Zheng, Yawen,Zhao, Qiang,Gang, Xueyu,Guo, Yang,Wang, Jianying,Xi, Wenhua,Zhu, Yuwei,Da, Daojun,Hong, Yun,Yuan, Chuanzhu,Yan, Zhaoxia,Wang, Jianwen,Deng
American journal of human genetics · 2022-02-10
pmid:351488303
GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.
Yi-Heng,Zeng, Kang,Yang, Gan-Qin,Du, Yi-Kun,Chen, Chun-Yan,Cao, Yu-Sen,Qiu, Jin,He, Hai-Dong,Lv, Qian-Qian,Qu, Jian-Nan,Chen, Guo-Rong,Xu, Long,Chen, Fu-Ze,Zheng, Miao,Zhao, Min-Ting,Lin, Wan-Jin,Chen, Jing,Hu, Zhi-Qiang,Wang, Ning,Wang
Annals of neurology · 2022-07-02
pmid:357001204
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.
Xinzhuang,Yang, Dingding,Zhang, Si,Shen, Pidong,Li, Mengjie,Li, Jingwen,Niu, Dongrui,Ma, Dan,Xu, Shuangjie,Li, Xueyu,Guo, Zhen,Wang, Yanhuan,Zhao, Haitao,Ren, Chao,Ling, Yang,Wang, Yu,Fan, Jianxiong,Shen, Yicheng,Zhu, Depeng,Wang, Liying,Cui, Lin,Chen, Changhe,Shi, Yi,Dai
BMC medical genomics · 2023-10-20
pmid:378642085
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)
Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy.
Chengcheng,Li, Jil A,Daw, Sara K,Pittman, Connor J,Maltby, Hidetoshi,Sakurai, Peter K,Todd, Conrad C,Weihl
Acta neuropathologica communications · 2026-03-06
pmid:41792844CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.
Alessandro,Bertini, Stefano,Facchini, Ilaria,Quartesan, Riccardo,Currò, Ricardo Parolin,Schnekenberg, Natalia,Dominik, Gustavo,Alves, Lucia,Ferullo, Arianna,Tucci, Henry,Houlden, Mary M,Reilly, Andrea,Cortese
Journal of neurology, neurosurgery, and psychiatry · 2026-05-14
pmid:40645757A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in
Wenjing,Wang, Tielun,Yin, Xinyu,Zhang, Zhaoxia,Wang, Tianyun,Wang, Shuo,Zhang, Yingshuang,Zhang, Dongsheng,Fan
Frontiers in genetics · 2025-02-27
pmid:40084170Clinical and pathological characteristics of OPDM4 patients in advanced disease.
Haixia,Tang, Ying,Xiong, Kaiyan,Jiang, Yu,Shen, Yanyan,Yu, Pengcheng,Huang, Min,Zhu, Xiaobing,Li, Yilei,Zheng, Meihong,Zhou, Jiaxi,Yu, Jianwen,Deng, Zhaoxia,Wang, Daojun,Hong, Yusen,Qiu, Dandan,Tan
Muscle & nerve · 2024-07-23
pmid:39044557Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.
Takahiro,Hobara, Masahiro,Ando, Yujiro,Higuchi, Jun-Hui,Yuan, Akiko,Yoshimura, Fumikazu,Kojima, Yutaka,Noguchi, Jun,Takei, Yu,Hiramatsu, Satoshi,Nozuma, Tomonori,Nakamura, Tadashi,Adachi, Keiko,Toyooka, Toru,Yamashita, Yusuke,Sakiyama, Akihiro,Hashiguchi, Eiji,Matsuura, Yuji,Okamoto, Hiroshi,Takashima
Journal of neurology, neurosurgery, and psychiatry · 2025-01-16
pmid:39013564Non-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