CANVAS RFC1
Disease ID
CANVAS
Gene ID
RFC1
Updated
Feb 5, 2025
v2.2.1
v2.2.1
Disease
Name
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
Inheritance
Autosomal recessive Description
Prevalence
Age of Onset Details
Locus
Details
Alleles
Ref. Motif
AAAAG
Benign (ref.)
AAAAG, AAAGG, AAGAG, AAAGGG
Benign (gene)
CTTTT, CCTTT, CTCTT, CCCTTT
Pathogenic (ref.)
AAGGG, ACAGG, AGGGC, AAGGC, AGAGG
Pathogenic (gene)
CCCTT, CCTGT, CCCTG, CCTTG, CCTCT
Unknown (ref.)
AAAAA, AAAAC, AACGG, AAGAC, AAGGT, AGAAC, AGGGG, GAAAC, GGGAC, GTGAG, AAAAGA, AAAGGA, GGAAAG
Unknown (gene)
TTTTT, GTTTT, CCGTT, CTTGT, ACCTT, CTGTT, CCCCT, CGTTT, CCCGT, ACCTC, CTTTTT, CCTTTT, CCCTTT
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
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:393490433
RFC1 CANVAS / Spectrum Disorder
Andrea,Cortese, Mary M.,Reilly, Henry,Houlden
GeneReviews® · 1993-01-01
genereviews:NBK5646564
Pseudodominance in RFC1-Spectrum Disorder.
Grazia Maria Igea,Falcone, Alessandra,Tessa, Ignazio Giuseppe,Arena, Melissa,Barghigiani, Alba,Migliorato, Alex,Incensi, Carmelo,Rodolico, Vincenzo,Donadio, Filippo Maria,Santorelli, Olimpia,Musumeci
Cerebellum (London, England) · 2024-09-04
pmid:392308465
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
Sarah J,Beecroft, Andrea,Cortese, Roisin,Sullivan, Wai Yan,Yau, Zoe,Dyer, Teddy Y,Wu, Eoin,Mulroy, Luciana,Pelosi, Miriam,Rodrigues, Rachael,Taylor, Stuart,Mossman, Ruth,Leadbetter, James,Cleland, Tim,Anderson, Gianina,Ravenscroft, Nigel G,Laing, Henry,Houlden, Mary M,Reilly, Richard H,Roxburgh
Brain : a journal of neurology · 2020-09-01
pmid:328513966
RFC1: Motifs and phenotypes.
V,Delforge, C,Tard, J-B,Davion, K,Dujardin, A,Wissocq, C-M,Dhaenens, E,Mutez, V,Huin
Revue neurologique · 2024-04-15
pmid:386271347
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Natalia,Dominik, Stefania,Magri, Riccardo,Currò, Elena,Abati, Stefano,Facchini, Marinella,Corbetta, Hannah,Macpherson, Daniela,Di Bella, Elisa,Sarto, Igor,Stevanovski, Sanjog R,Chintalaphani, Fulya,Akcimen, Arianna,Manini, Elisa,Vegezzi, Ilaria,Quartesan, Kylie-Ann,Montgomery, Valentina,Pirota, Emmanuele,Crespan, Cecilia,Perini, Glenda Paola,Grupelli, Pedro J,Tomaselli, Wilson,Marques, Joseph,Shaw, James,Polke, Ettore,Salsano, Silvia,Fenu, Davide,Pareyson, Chiara,Pisciotta, George K,Tofaris, Andrea H,Nemeth, John,Ealing, Aleksandar,Radunovic, Seamus,Kearney, Kishore R,Kumar, Steve,Vucic, Marina,Kennerson, Mary M,Reilly, Henry,Houlden, Ira,Deveson, Arianna,Tucci, Franco,Taroni, Andrea,Cortese
Brain : a journal of neurology · 2023-12-01
pmid:374505678
RFC1 CANVAS: genotype phenotype correlations
Curro,Riccardo, Natalia,Dominik, Stojkovic,Tanya, Miller,James, Gosal,David, Hadivassiliou,Marios, Giunti,Paola, Henry,Houlden, Reilly,Mary M, Cortese,Andrea
RFC1 CANVAS: genotype phenotype correlations · 2024-11-01
doi:10.1136/jnnp-2024-ABN.25911
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:3846778412
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Haloom,Rafehi, David J,Szmulewicz, Mark F,Bennett, Nara L M,Sobreira, Kate,Pope, Katherine R,Smith, Greta,Gillies, Peter,Diakumis, Egor,Dolzhenko, Michael A,Eberle, María García,Barcina, David P,Breen, Andrew M,Chancellor, Phillip D,Cremer, Martin B,Delatycki, Brent L,Fogel, Anna,Hackett, G Michael,Halmagyi, Solange,Kapetanovic, Anthony,Lang, Stuart,Mossman, Weiyi,Mu, Peter,Patrikios, Susan L,Perlman, Ian,Rosemergy, Elsdon,Storey, Shaun R D,Watson, Michael A,Wilson, David S,Zee, David,Valle, David J,Amor, Melanie,Bahlo, Paul J,Lockhart
American journal of human genetics · 2019-06-20
pmid:31230722Additional 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)
9
Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease.
Peng,Liu, Fan,Zhang, Xinhui,Chen, Xiaosheng,Zheng, Miao,Chen, Zhiru,Lin, Shuqi,Chen, Lebo,Wang, Xinchen,Wang, Nan,Jin, Chenxin,Ying, Fei,Xie, Bo,Wang, Sheng,Wu, Zhidong,Cen, Wei,Luo
NPJ Parkinson's disease · 2025-01-20
pmid:3983320410
Repeat expansions in
Barnaby,Hirons, Peter S P,Cho, Katie,Rhatigan, Joe,Shaw, Riccardo,Curro, Bianca,Rugginini, Natalia,Dominik, Richard D,Turner, Ewan,Mackay, James H,Hull, Hisham,Abubakar-Waziri, Harini,Kesavan, Caroline J,Jolley, Robert D,Hadden, Andrea,Cortese, Surinder S,Birring
ERJ open research · 2025-01-13
pmid:39811557Diagnosis of hereditary ataxias: a real-world single center experience.
Adriana,Meli, Vincenzo,Montano, Giovanni,Palermo, Antonella,Fogli, Anna,Rocchi, Annalisa Lo,Gerfo, Rossella,Maltomini, Ludovica,Cori, Antonio,Siniscalchi, Clara,Bernardini, Giulia,Cecchi, Gabriele,Siciliano, Roberto,Ceravolo, Maria Adelaide,Caligo, Michelangelo,Mancuso, Piervito,Lopriore
Journal of neurology · 2025-01-15
pmid:39812846Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients.
Elena,Lainez, Daniel,Sánchez-Tejerina, Paula,Fernández Alvarez, Margarida,Gratacòs-Viñola, José Luis,Seoane, Daniela Isabel,Santa-Cruz, Lena,Verdaguer, Raúl,Juntas, Arnau,Llauradó, Javier,Sotoca, Maria,Salvado, Elena,García Arumi, Núria,Raguer
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 2024-12-19
pmid:39721397Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms.
Georgios,Koutsis, Chrisoula,Kartanou, Zoi,Kontogeorgiou, Chrysoula,Koniari, Alexandros,Mitrousias, David,Pellerin, Marie-Jose,Dicaire, Pablo,Iruzubieta, Matt C,Danzi, Konstantinos,Athanassopoulos, Nikolaos,Ragazos, Maria,Stamelou, Michail,Rentzos, Evangelos,Anagnostou, Stephan,Zuchner, Bernard,Brais, Henry,Houlden, Marios,Panas, Leonidas,Stefanis, Georgia,Karadima
Journal of the neurological sciences · 2024-11-15
pmid:39571249Elucidating the pathobiology of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) with its expanded RNA structure formation and proteinopathy.
Krishna,Singh, Sakshi,Shukla, Uma,Shankar, Neha,Jain, Rishav,Nag, Kumari Aditi,Pramod, Amit,Kumar
Scientific reports · 2024-11-14
pmid:39543176Early Peripheral Nerve Involvement at the Time of Coughing in Patients With
Simon,Frachet, Pauline,Chazelas, Laurent,Magy, Pascal,Cintas, Danielle,Brouquières, Pierre,Girardie, Louise,Espagno, Boris,Melloni, Laurent,Guilleminault, Anne-Sophie,Lia
Neurology. Genetics · 2024-07-19
pmid:39507594Case report: Neuroacanthocytosis associated with novel variants in the
Martin,Paucar, Josephine,Wincent, Charlotta,Rubin, Kevin,Peikert, Josefin,Kyhle, Stellan,Hertegård, Riita,Möller, Soheir,Beshara, Per,Svenningsson
Frontiers in neuroscience · 2024-10-02
pmid:39416949Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT and
Niccoló,Tesi, Alex,Salazar, Yaran,Zhang, Sven,van der Lee, Marc,Hulsman, Lydian,Knoop, Sanduni,Wijesekera, Jana,Krizova, Anne-Fleur,Schneider, Maartje,Pennings, Kristel,Sleegers, Erik-Jan,Kamsteeg, Marcel,Reinders, Henne,Holstege
Genome research · 2024-11-20
pmid:39406499