Gene: TUBB4A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR Screening study of TUBB4A in isolated dystonia. 28655586

2017
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR [A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review]. 28592043

2017
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. 27188707

2016
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067

2016
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. 25168210

2015
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. 24974158

2015
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? 25545912

2015
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR Large-scale TUBB4A mutational screening in isolated dystonia and controls. 26318963

2015
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR TUBB4A de novo mutations cause isolated hypomyelination. 25085639

2014
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. 24742798

2014
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 24850488

2014
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. 24526230

2014
dbSNP: rs587777429
rs587777429
TUBB4A
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
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 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
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 23424103

2013
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 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
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291

2013
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. 21956287

2011
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR Tumoral and tissue-specific expression of the major human beta-tubulin isotypes. 20191564

2010
dbSNP: rs587777429
rs587777429
TUBB4A
A 0.700 CausalMutation CLINVAR New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. 12372733

2002