×
Entrez Id:
79152
Gene Symbol:
FA2H
FA2H
Spastic Paraplegia, Hereditary
0.570
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
3798
Gene Symbol:
KIF5A
KIF5A
Spastic Paraplegia, Hereditary
0.500
Biomarker
GENOMICS_ENGLAND
A practical approach to diagnosing adult onset leukodystrophies.
24357685
2014
×
Entrez Id:
11160
Gene Symbol:
ERLIN2
ERLIN2
Spastic Paraplegia, Hereditary
0.430
Biomarker
GENOMICS_ENGLAND
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
29528531
2018
×
Entrez Id:
11160
Gene Symbol:
ERLIN2
ERLIN2
Spastic Paraplegia, Hereditary
0.430
Biomarker
GENOMICS_ENGLAND
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
28832565
2017
×
Entrez Id:
11160
Gene Symbol:
ERLIN2
ERLIN2
Spastic Paraplegia, Hereditary
0.430
Biomarker
GENOMICS_ENGLAND
The critical role of membralin in postnatal motor neuron survival and disease.
25977983
2015
×
Entrez Id:
11160
Gene Symbol:
ERLIN2
ERLIN2
Spastic Paraplegia, Hereditary
0.430
Biomarker
GENOMICS_ENGLAND
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.
23109145
2012
×
Entrez Id:
51062
Gene Symbol:
ATL1
ATL1
Spastic Paraplegia, Hereditary
0.400
Biomarker
GENOMICS_ENGLAND
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
29691679
2018
×
Entrez Id:
113612
Gene Symbol:
CYP2U1
CYP2U1
Spastic Paraplegia, Hereditary
0.350
Biomarker
GENOMICS_ENGLAND
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
23176821
2012
×
Entrez Id:
51271
Gene Symbol:
UBAP1
UBAP1
Spastic Paraplegia, Hereditary
0.340
Biomarker
GENOMICS_ENGLAND
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
30929741
2019
×
Entrez Id:
3897
Gene Symbol:
L1CAM
L1CAM
Spastic Paraplegia, Hereditary
0.340
Biomarker
GENOMICS_ENGLAND
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
7562969
1995
×
Entrez Id:
80821
Gene Symbol:
DDHD1
DDHD1
Spastic Paraplegia, Hereditary
0.330
Biomarker
GENOMICS_ENGLAND
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
15786464
2005
×
Entrez Id:
10613
Gene Symbol:
ERLIN1
ERLIN1
Spastic Paraplegia, Hereditary
0.320
Biomarker
GENOMICS_ENGLAND
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
24482476
2014
×
Entrez Id:
10613
Gene Symbol:
ERLIN1
ERLIN1
Spastic Paraplegia, Hereditary
0.320
Biomarker
GENOMICS_ENGLAND
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
24482476
2014
×
Entrez Id:
215
Gene Symbol:
ABCD1
ABCD1
Spastic Paraplegia, Hereditary
0.310
Biomarker
GENOMICS_ENGLAND
Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia.
23664929
2013
×
Entrez Id:
215
Gene Symbol:
ABCD1
ABCD1
Spastic Paraplegia, Hereditary
0.310
Biomarker
GENOMICS_ENGLAND
Phenotypes of female adrenoleukodystrophy.
17372139
2007