Early onset or syndromic epilepsy
Gene: TUBA1A
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
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.
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
Source Wessex and West Midlands GLH was added to TUBA1A.
Source NHS GMS was added to TUBA1A.
Zornitza Stark: Seizures are part of the pheno
Gene: tuba1a has been classified as Green List (High Evidence).
Gene: tuba1a has been classified as Green List (High Evidence).
Mode of inheritance for gene: TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBA1A were set to
Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, 611603
Expert Review Amber was added to TUBA1A. Panel: Genetic Epilepsy Syndromes
TUBA1A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TUBA1A was created by Sarah Leigh