Inherited white matter disorders

Gene: TUBA1A

Red List (low evidence)

TUBA1A (tubulin alpha 1a)
EnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 16 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Should be in Malformations of cortical development panel.
Created: 6 Oct 2016, 10:04 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed DD gene for Lissencephaly Type 3, more than 3 cases in OMIM for Lissencephaly 3 and found in 3/4 original sources of gene panels. Is not in the minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 or on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory. Should be green if Lissencephaly 3 is considered a white matter disorder.
Created: 25 Aug 2016, 3:20 p.m.

History Filter Activity

6 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

5 Apr 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TUBA1A was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

TUBA1A was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TUBA1A was added to Inherited white matter disorderspanel. Sources: UKGTN

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TUBA1A was created by ellenmcdonagh