Malformations of cortical development

Gene: TUBA1A

Green List (high evidence)

TUBA1A (tubulin alpha 1a)
EnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 15 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least nine variants reported.
Created: 1 Nov 2016, 1:21 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Most/all confirmed reported mutations are missense or in-frame.
Created: 4 Oct 2016, 7:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to Version 1 on 22nd November 2016

1 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Nov 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TUBA1A were set to Lissencephaly 3 611603

1 Nov 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for TUBA1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

11 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

TUBA1A was added to Malformations of cortical developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services

11 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TUBA1A was added to Malformations of cortical developmentpanel. Sources: UKGTN

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TUBA1A was created by sleigh