Early onset or syndromic epilepsy
Gene: TUBB4A
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
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
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 128101Created: 6 Sep 2018, 2:09 p.m.
Comment on phenotypes: Leukodystrophy, hypomyelinating, 6, 612438Created: 6 Sep 2018, 2:07 p.m.
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
Source Wessex and West Midlands GLH was added to TUBB4A.
Source NHS GMS was added to TUBB4A.
Zornitza Stark: Seizures are part of the pheno
Gene: tubb4a has been classified as Green List (High Evidence).
Gene: tubb4a has been classified as Green List (High Evidence).
Publications for gene: TUBB4A were set to 24742798; 26643067
Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438
Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438
Mode of inheritance for gene: TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Expert Review Amber was added to TUBB4A. Panel: Genetic Epilepsy Syndromes
TUBB4A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TUBB4A was created by Sarah Leigh