Structural basal ganglia disordersGene: TUBB4A
Comment on phenotypes: Variants also reported in Dystonia 4, torsion, autosomal dominant 128101
Created: 16 Mar 2017, 12:35 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 6 variants reported.
Created: 16 Mar 2017, 12:34 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for TUBB4A were set to Leukodystrophy, hypomyelinating, 6 612438
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for TUBB4A were set to 23582646; 24850488; 24526230
TUBB4A was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
TUBB4A was added to Structural basal ganglia disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
TUBB4A was created by sleigh