Early onset or syndromic epilepsy
Gene: TUBB3
AD complex cortical dysplasia and AD congenital fibrosis of the extraocular muscles. On OMIM 2/9 indivduals with complex cortical dysplasia had seizures - not a major feature of disease.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
Cortical dysplasia complex with other brain malformations 1, 614039; Fibrosis of extraocular muscles congenital 3A, 600638
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 phenotypes in OMIM, and seizures associated with at least three unrelated cases (see PMID:25008804).Created: 20 Sep 2018, 2 p.m.
Comment on list classification: Updated rating from Amber to Green: 1 Green expert review plus at least 3 patients with TUBB3 variants showing seizures.Created: 20 Sep 2018, 1:59 p.m.
Seizures reported in two (unrelated) of nine patients in PMID:20829227 (2010) and in a cerebellar dysplasia patient with c.1070C>T (p.P357L) TUBB3 variant in PMID:26130693 (2015).
In PMID:28503613, an MRI of a 4 year old patient harbouring a de novo missense mutation, c.862G>A p.E288K in TUBB3 shows a few epileptic discharges in the brain, although no seizures had been reported.Created: 20 Sep 2018, 1:57 p.m.
Seizures are part of the phenotype of this brain development disorder.Created: 22 Aug 2018, 7:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 1, MIM#614039
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to TUBB3.
Source NHS GMS was added to TUBB3.
Zornitza Stark: Seizures are part of the pheno
Publications for gene: TUBB3 were set to 20829227; 26130693
Gene: tubb3 has been classified as Green List (High Evidence).
Gene: tubb3 has been classified as Green List (High Evidence).
Publications for gene: TUBB3 were set to 20829227
Publications for gene: TUBB3 were set to
Mode of inheritance for gene: TUBB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, 614039
Expert Review Amber was added to TUBB3. Panel: Genetic Epilepsy Syndromes
TUBB3 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TUBB3 was created by Sarah Leigh