Early onset or syndromic epilepsy
Gene: TUBG1

TUBG1 (tubulin gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000131462
EnsemblGeneIds (GRCh37): ENSG00000131462
OMIM: 191135, Gene2Phenotype
TUBG1 is in 7 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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

Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

23603762

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

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.

Created: 6 Sep 2018, 12:49 p.m.

Panel version: 0.405

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 22 Aug 2018, 8:45 a.m.

Panel version: 0.335

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Wessex and West Midlands GLH
NHS GMS
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cortical dysplasia, complex, with other brain malformations 4, 615412

OMIM

191135

Clinvar variants

Variants in TUBG1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

27 Jul 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TUBG1 were set to 23603762; 29706637

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TUBG1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TUBG1.

11 Dec 2018, Gel status: 3