Structural basal ganglia disorders

Gene: TUBB4A

Green List (high evidence)

TUBB4A (tubulin beta 4A class IVa)
EnsemblGeneIds (GRCh38): ENSG00000104833
EnsemblGeneIds (GRCh37): ENSG00000104833
OMIM: 602662, Gene2Phenotype
TUBB4A is in 19 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

16 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TUBB4A were set to Leukodystrophy, hypomyelinating, 6 612438

16 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

16 Mar 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TUBB4A were set to 23582646; 24850488; 24526230

7 Sep 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

TUBB4A was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TUBB4A was added to Structural basal ganglia disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TUBB4A was created by sleigh