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Genetic epilepsy syndromes

Gene: TUBA1A

Green List (high evidence)

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

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD Lissencephaly, seizures and epilepsy have been reported in patients. Many missense variants reported on HGMD Pro (63). Are a number of cases but epilepsy isn't a major feature.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lissencephaly 3, 611603

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment when marking as ready: Associated with relevant seizure phenotypes in OMIM, with sufficient (>3) unrelated cases reporting seizures.
Created: 24 Sep 2018, 4:08 p.m.
Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P gene for Lissencephaly 3 (611603) which includes seizures in some patients. Seizures are associated with at least three variants in unrelated cases (PMIDs:17218254, 17584854, 18954413, 21403111, 22948023).
Created: 24 Sep 2018, 4:06 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype in this brain development disorder.
Created: 22 Aug 2018, 7:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lissencephaly 3, MIM#611603

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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TUBA1A.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TUBA1A.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

24 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tuba1a has been classified as Green List (High Evidence).

24 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tuba1a has been classified as Green List (High Evidence).

24 Sep 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Sep 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TUBA1A were set to

24 Sep 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, 611603

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to TUBA1A. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TUBA1A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TUBA1A was created by Sarah Leigh