Early onset or syndromic epilepsy

Gene: TUBB4A

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

Green List (high evidence)

AD torsion sdystonia or AD hypomyelinating leukodystrophy, Seizures have been reported on OMIM in a few cases of hypomyelinating leukodystrophy (Van der Knaap et al 2002 & Miyatake et al 2014).

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
Dystonia 4 torsion autosomal dominant, 128101; Leukodystrophy hypomyelinating 6, 612438

Publications

• 25168210

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in numerous cases.

Created: 26 Sep 2018, 2:09 p.m.

Comment on phenotypes: variants also associated with Dystonia 4, torsion, autosomal dominant 128101

Created: 6 Sep 2018, 2:09 p.m.

Comment on phenotypes: Leukodystrophy, hypomyelinating, 6, 612438

Created: 6 Sep 2018, 2:07 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this leukodystorphy.

Created: 22 Aug 2018, 8:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy, hypomyelinating, 6, MIM#612438

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