rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
28608987
2017
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
27217339
2016
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
26626314
2016
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
27084228
2016
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
27260292
2016
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
26374131
2016
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
26671083
2015
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
26094131
2015
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.
26260707
2015
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.
24731568
2014
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
22571692
2013
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
22554690
2012
rs61755320
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
22964162
2012