Early onset or syndromic epilepsy

Gene: TUBA1A

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

• 17584854
• 18954413

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.

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