WASHC5, WASH complex subunit 5, 9897

N. diseases: 129; N. variants: 15
Disease: Spastic paraplegia 8, autosomal dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease BEFREE Spastic paraplegia type 8 (SPG8) is an autosomal-dominant form of hereditary spastic paraplegia (AD-HSP) caused by a mutation in the KIAA0196 gene. 31814071 2020
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease BEFREE To our knowledge, it's the first frame delete mutation causing shift mutation of KIAA0196 gene, resulting in the earliest onset of SPG8 in the world. 29768361 2018
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease BEFREE The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8). 30061306 2018
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 Biomarker disease GENOMICS_ENGLAND Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 24916641 2015
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease BEFREE A total of nine mutations in KIAA0196, which encodes the WASH regulatory complex (SHRC) member strumpellin, have been reported in SPG8 patients so far. 26572744 2015
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 25454649 2014
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. 23881105 2013
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 CausalMutation disease CLINVAR A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355 2013
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. 23455931 2013
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease CLINVAR A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355 2013
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function. 23085491 2013
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 Biomarker disease GENOMICS_ENGLAND Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. 23455931 2013
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. 20833645 2010
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 CausalMutation disease CLINVAR Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 Biomarker disease GENOMICS_ENGLAND Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GeneticVariation disease UNIPROT Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 GermlineCausalMutation disease ORPHANET Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 17160902 2007
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 Biomarker disease CTD_human
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		0.740 Biomarker disease GENOMICS_ENGLAND