×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
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
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
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
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
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
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
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
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
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
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
0.740
GeneticVariation
disease
UNIPROT
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
25454649
2014
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
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
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
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
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
0.740
GeneticVariation
disease
UNIPROT
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
23455931
2013
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
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
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
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
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
0.740
Biomarker
disease
GENOMICS_ENGLAND
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
23455931
2013
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
0.740
GeneticVariation
disease
UNIPROT
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
20833645
2010
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
0.740
CausalMutation
disease
CLINVAR
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
17160902
2007
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
0.740
Biomarker
disease
GENOMICS_ENGLAND
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
17160902
2007
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
0.740
GeneticVariation
disease
UNIPROT
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
17160902
2007
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
0.740
GermlineCausalMutation
disease
ORPHANET
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
17160902
2007
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
0.740
Biomarker
disease
CTD_human
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
0.740
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.010
Biomarker
disease
BEFREE
By a clinical point of view, it is hard to differentiate SPG8 from the SPG4 , in which bladder and vibration sense dysfunctions are frequent signs.
31814071
2020