TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C1860315
Disease: Whispering dysphonia, hereditary
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
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary
0.620 Biomarker disease GENOMICS_ENGLAND Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary
0.620 Biomarker disease BEFREE TUBB4A mutations also have been described as causative of DYT4 ("hereditary whispering dysphonia"). 25545912 2015
CUI: C1860315
Disease: Whispering dysphonia, hereditary
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
CUI: C1860315
Disease: Whispering dysphonia, hereditary
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
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary
0.620 Biomarker disease CTD_human
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary
0.620 GermlineCausalMutation disease ORPHANET
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
0.600 CausalMutation disease CLINVAR Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. 29451896 2018
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
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
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
0.600 CausalMutation disease CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
0.600 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
0.600 Biomarker disease GENOMICS_ENGLAND TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
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
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
0.600 CausalMutation disease CLINVAR Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
0.600 Biomarker disease GENOMICS_ENGLAND Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015