rs483352809
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.800
CausalMutation
CLINVAR
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
24850488
2014
rs483352809
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.800
CausalMutation
CLINVAR
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
24706558
2014
rs483352809
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.800
CausalMutation
CLINVAR
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
24785942
2014
rs483352809
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.800
CausalMutation
CLINVAR
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
23582646
2013
rs483352809
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
0.800
GeneticVariation
UNIPROT
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
23582646
2013
rs886039470
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.700
CausalMutation
CLINVAR
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
29451896
2018
rs767399782
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.700
CausalMutation
CLINVAR
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
28973395
2017
rs587777468
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
A
0.700
CausalMutation
CLINVAR
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
26643067
2016
rs797045074
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
G
0.700
GeneticVariation
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
rs886041008
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.700
CausalMutation
CLINVAR
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
26643067
2016
rs886041010
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.700
CausalMutation
CLINVAR
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
26643067
2016
rs761635539
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
A
0.700
CausalMutation
CLINVAR
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
25772097
2015
rs886039470
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.700
CausalMutation
CLINVAR
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
25356970
2015
rs886039470
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.700
CausalMutation
CLINVAR
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
25168210
2015
rs886039470
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.700
CausalMutation
CLINVAR
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.
24974158
2015
rs886041012
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
A
0.700
CausalMutation
CLINVAR
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
25545912
2015
rs886041013
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
A
0.700
CausalMutation
CLINVAR
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
25545912
2015
rs886041017
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.700
CausalMutation
CLINVAR
Exome sequencing in undiagnosed inherited and sporadic ataxias.
25497598
2015
rs886041022
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
C
0.700
CausalMutation
CLINVAR
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum.
25168210
2015
rs587776983
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
A
0.700
CausalMutation
CLINVAR
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
24785942
2014
rs587777428
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.700
CausalMutation
CLINVAR
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
24850488
2014
rs587777429
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
A
0.700
CausalMutation
CLINVAR
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.
24742798
2014
rs587777467
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.700
CausalMutation
CLINVAR
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
24850488
2014
rs587777467
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
T
0.700
CausalMutation
CLINVAR
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
24785942
2014
rs587777468
×
Entrez Id:
10382
Gene Symbol:
TUBB4A
TUBB4A
Leukodystrophy, Hypomyelinating, 6
C
0.700
CausalMutation
CLINVAR
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
24850488
2014