| 1 | CCDC22, RTSC1, RTSC2, WASHC5
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| Ritscher-Schinzel Syndrome
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| Elliott AM, Chudley A.
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| Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021 2020
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| 2 | CAV1, SPG8, WASHC5
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| Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion. 2020
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| Lee S, Park H, Zhu PP, Jung SY, Blackstone C, Chang J
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| Sci Signal. Jan 7;13(613):eaau7500. doi: 10.1126/scisignal.aau7500 2020
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| 3 | CCDC22, RTSC3, VPS35L, WASHC5
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| Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex
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| Kato K, Oka Y, Muramatsu H, Vasilev FF, Otomo T, Oishi H, Kawano Y, Kidokoro H, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S.
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| J Med Genet. Apr;57(4):245-253. doi: 10.1136/jmedgenet-2019-106213. Epub 2019 Nov 11. 2020
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| 4 | SPG8, WASHC5
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| Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8.
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| Ichinose Y, Koh K, Fukumoto M, Yamashiro N, Kobayashi F, Miwa M, Nagasaka T, Shindo K, Ishiura H, Tsuji S, Takiyama DY.
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| Clin Neurol Neurosurg. May;144:36-8. doi: 10.1016/j.clineuro.2016.02.031. Epub 2016 Mar 4. 2016
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| 5 | SPG8, WASHC5
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| A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8
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| Jahic A, Kreuz F, Zacher P, Fiedler J, Bier A, Reif S, Rieger M, Krüger S, Beetz C, Plaschke J
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| Neurol Sci. Dec 15;347(1-2):372-4. doi: 10.1016/j.jns.2014.10.018. Epub 2014 Oct 16. 2014
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| 6 | RSTC1, WASHC5
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| . A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 2013 PMID:
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| Elliott AM, Simard LR, Coghlan G, Chudley AE, Chodirker BN, Greenberg CR, Burch T, Ly V, Hatch GM, Zelinski T
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| J Med Genet. Dec;50(12):819-22. doi: 10.1136/jmedgenet-2013-101715. Epub 2013 Sep 24. 2013
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| 7 | SPG8, WASHC5
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| Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
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| de Bot ST, Vermeer S, Buijsman W, Heister A, Voorendt M, Verrips A, Scheffer H, Kremer HP, van de Warrenburg BP, Kamsteeg EJ.
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| J Neurol. 2013
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| 8 | FKBP15, KIAA1033, WASHC5
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| The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis.
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| Pan YF, Viklund IM, Tsai HH, Pettersson S, Maruyama IN.
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| Int J Biol Sci 6(2):163-71. 2010
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| 9 | WASHC5
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| Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
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| Clemen CS, Tangavelou K, Strucksberg KH, Just S, Gaertner L, Regus-Leidig H, Stumpf M, Reimann J, Coras R, Morgan RO, Fernandez MP, Hofmann A, Müller S, Schoser B, Hanisch FG, Rottbauer W, Blümcke I, von Hörsten S, Eichinger L, Schröder R.
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| Brain 133(10):2920-41. Epub 2010 Sep 9. 2010
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| 10 | WASHC5
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| TCEB1 promotes invasion of prostate cancer cells.
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| Jalava SE, Porkka KP, Rauhala HE, Isotalo J, Tammela TL, Visakorpi T.
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| Int J Cancer. 124(1):95-102. 2009
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| 11 | WASH1, WASHC5
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| The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex.
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| Derivery E, Sousa C, Gautier JJ, Lombard B, Loew D, Gautreau A.
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| Dev Cell 17(5):712-23. 2009
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| 12 | SPG8, WASHC5
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| Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia.
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| Valdmanis PN, Meijer IA, Reynolds A, Lei A, Macleod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA.
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| Am J Hum Genet 80(1):152-61. Epub 2006 Dec 1. 2007
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| 13 | WASHC5
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| High-resolution array comparative genomic hybridization of chromosome arm 8q: evaluation of genetic progression markers for prostate cancer.
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| van Duin M, van Marion R, Vissers K, Watson JE, van Weerden WM, Schröder FH, Hop WC, van der Kwast TH, Collins C, van Dekken H.
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| Genes Chromosomes Cancer. 44(4):438-49. 2005
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| 14 | RAD21, WASHC5
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| RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer.
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| Porkka KP, Tammela TL, Vessella RL, Visakorpi T.
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| Genes Chromosomes Cancer 39(1):1-10. 2004
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