Inherited white matter disordersGene: TUBA1A
Comment on list classification: Should be in Malformations of cortical development panel.
Created: 6 Oct 2016, 10:04 a.m.
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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
TUBA1A was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
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
TUBA1A was added to Inherited white matter disorderspanel. Sources: UKGTN
TUBA1A was created by ellenmcdonagh