Early onset or syndromic epilepsy
Gene: TUBB
Seizures rarely reported with this gene- however, this could be due to bias of assertainment. If testing for other tubulin genes it would make sense to test for this gene.Phenotypes for this gene include circumferential skin creases Kunze type, microcephaly and cerebral abnormalities. Very few variants reported to date.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 6, 615771; Symmetric circumferential skin creases congenital 1, 156610
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: Alison Callaway and John Taylor. Suggested gene rating: Amber.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: Amber rating appropriate based on current reported phenotypes. Require additional seizure evidence before rating as Green.Created: 24 Sep 2018, 8:40 a.m.
Comment on list classification: Although TUBB has a Green expert review, have kept rating as Amber on phenotypic grounds, following advice from Helen Brittain. Seizures are not listed in the clinical synopsis for this particular cortical malformation disorder (MIM:615771), and although variants in other tubulin genes are linked to seizures, according to PMID:25008804 (2015), mutations in the TUBB gene have been described in three unrelated cases, none showing epilepsy. Added 'watchlist' tag to identify additional cases.Created: 24 Sep 2018, 8:38 a.m.
Seizures are part of the phenotype in this brain development disorder.Created: 22 Aug 2018, 7:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 6, MIM#615771
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to TUBB.
Source NHS GMS was added to TUBB.
Zornitza Stark: Seizures are part of the pheno
Gene: tubb has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: TUBB.
Mode of inheritance for gene: TUBB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: tubb has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, 615771
Expert Review Amber was added to TUBB. Panel: Genetic Epilepsy Syndromes
TUBB was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TUBB was created by Sarah Leigh