Early onset or syndromic epilepsy
Gene: TUBG1
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 Cortical dysplasia with other brain malformations. Early onset seizures are a feature. 3 unrealted individuals - het variants in TUBG1. 2 confirmed de novo - Poirer et al 2013.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 4, 615412
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in unrelated cases.Created: 6 Sep 2018, 12:49 p.m.
Seizures are part of the phenotype of this brain development disorder.Created: 22 Aug 2018, 8:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 4, MIM#615412
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: TUBG1 were set to 23603762; 29706637
Source Wessex and West Midlands GLH was added to TUBG1.
Source NHS GMS was added to TUBG1.
Zornitza Stark: Seizures are part of the pheno
Gene: tubg1 has been classified as Green List (High Evidence).
Publications for gene: TUBG1 were set to 23603762; 29706637
Phenotypes for gene: TUBG1 were set to Cortical dysplasia, complex, with other brain malformations 4, 615412
Publications for gene: TUBG1 were set to 23603762
Mode of inheritance for gene: TUBG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: tubg1 has been classified as Green List (High Evidence).
Gene: tubg1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: TUBG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBG1 were set to 23603762
Expert Review Amber was added to TUBG1. Panel: Genetic Epilepsy Syndromes
TUBG1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TUBG1 was created by Sarah Leigh