rs119103265
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.820
GeneticVariation
BEFREE
We identified two HMSN VI families with the R364W mutation in the early onset group; however, two other families with the same mutation did not have optic atrophy.
16835246
2006
rs119103265
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.820
GeneticVariation
BEFREE
The patient is a Caucasian male with HMSN VI (type 2A Charcot-Marie-Tooth disease and associated optic atrophy) and a c.1090C→T (p.R364W ) mutation in the mitofusin 2 (MFN2) gene.
21707411
2011
rs119103265
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.820
GeneticVariation
UNIPROT
rs119103263
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.800
GeneticVariation
UNIPROT
rs119103264
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.800
GeneticVariation
UNIPROT
rs119103266
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.800
GeneticVariation
UNIPROT
rs28940291
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.700
GeneticVariation
UNIPROT
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
16437557
2006
rs28940291
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.700
GeneticVariation
UNIPROT
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
20350294
2010
rs28940291
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.700
GeneticVariation
UNIPROT
Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
24604904
2014
rs28940291
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
0.700
GeneticVariation
UNIPROT
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
26085578
2015
rs1553145402
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
AG
0.700
GeneticVariation
CLINVAR
rs28940292
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
C
0.700
CausalMutation
CLINVAR
rs119103264
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
G
0.800
CausalMutation
CLINVAR
rs864622480
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
G
0.700
GeneticVariation
CLINVAR
rs119103265
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
T
0.820
CausalMutation
CLINVAR
rs119103263
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
T
0.800
CausalMutation
CLINVAR
rs119103266
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
T
0.800
CausalMutation
CLINVAR
rs1057517987
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
T
0.700
GeneticVariation
CLINVAR
rs119103267
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
T
0.700
CausalMutation
CLINVAR
rs119103268
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
T
0.700
CausalMutation
CLINVAR