present in Gene: SPG7
present in Chromosome: 16
Position on Chromosome: 89513008
Alleles of this Variant: C/A;G;T
rs149474131 in
SPG7 gene and
Movement Disorders
PMID 22571692 2013 SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
PMID 22554690 2012 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
PMID 26374131 2016 Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
PMID 27084228 2016 Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
PMID 28608987 2017 SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
PMID 26260707 2015 Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.
PMID 26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
PMID 26094131 2015 Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
PMID 27260292 2016 A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
PMID 22964162 2012 Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
PMID 27217339 2016 Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
PMID 24731568 2014 Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.