|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
|
31369919 |
2019 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
|
26392352 |
2015 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'.
|
21750110 |
2011 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
|
20598714 |
2010 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have been identified in autosomal dominant motor neuron diseases such as Silver syndrome/spastic paraplegia 17 (SPG17) (OMIM #270685) and distal hereditary motor neuropathy type V (dHMN-V) (OMIM #182960).
|
18790819 |
2009 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We would therefore suggest that a genetic testing of dHMN-V and SS patients should begin with screening of exon 3 of the BSCL2 gene.
|
17663003 |
2007 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).
|
17663003 |
2007 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
|
14981520 |
2004 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.
|
15181077 |
2004 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We recently found heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2, seipin) gene causing SPG17 and distal hereditary motor neuropathy type V (distal HMN V).
|
15242882 |
2004 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
|
14981520 |
2004 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We report on a large four-generation Austrian family with autosomal dominant distal hereditary motor neuronopathy type V (distal HMN V).
|
10908191 |
2000 |
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|