DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC).
|
28655586 |
2017 |
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
We present a study of the cellular effects of TUBB4A mutations responsible for H-ABC (p.Asp249Asn), DYT4 (p.Arg2Gly), a severe combined phenotype with hypomyelination and encephalopathy (p.Asn414Lys), as well as milder phenotypes causing isolated hypomyelination (p.Val255Ile and p.Arg282Pro).
|
28973395 |
2017 |
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing in undiagnosed inherited and sporadic ataxias.
|
25497598 |
2015 |
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing in undiagnosed inherited and sporadic ataxias.
|
25497598 |
2015 |
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
|
24526230 |
2014 |
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
|
23424103 |
2013 |
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Whispering dysphonia, hereditary
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
After the recent identification of TUBB4A mutation as the genetic basis of the disease, the clinical and neuroimaging phenotype related to TUBB4A mutations expanded, ranging from primary dystonia type 4 with normal MRI to severe H-ABC cases.
|
26643067 |
2016 |
Whispering dysphonia, hereditary
|
0.620 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing in undiagnosed inherited and sporadic ataxias.
|
25497598 |
2015 |
Whispering dysphonia, hereditary
|
0.620 |
Biomarker
|
disease |
BEFREE |
TUBB4A mutations also have been described as causative of DYT4 ("hereditary whispering dysphonia").
|
25545912 |
2015 |
Whispering dysphonia, hereditary
|
0.620 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
|
24526230 |
2014 |
Whispering dysphonia, hereditary
|
0.620 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
Whispering dysphonia, hereditary
|
0.620 |
Biomarker
|
disease |
CTD_human |
|
|
|
Whispering dysphonia, hereditary
|
0.620 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
|
29451896 |
2018 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
|
28973395 |
2017 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
|
26643067 |
2016 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
|
26643067 |
2016 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
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 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing in undiagnosed inherited and sporadic ataxias.
|
25497598 |
2015 |
Leukodystrophy, Hypomyelinating, 6
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing in undiagnosed inherited and sporadic ataxias.
|
25497598 |
2015 |