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Genetic epilepsy syndromes

Gene: TUBG1

Green List (high evidence)

TUBG1 (tubulin gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000131462
EnsemblGeneIds (GRCh37): ENSG00000131462
OMIM: 191135, Gene2Phenotype
TUBG1 is in 6 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

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

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.

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

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

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

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

6 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tubg1 has been classified as Green List (High Evidence).

6 Sep 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TUBG1 were set to 23603762; 29706637

6 Sep 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: TUBG1 were set to Cortical dysplasia, complex, with other brain malformations 4, 615412

6 Sep 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TUBG1 were set to 23603762

6 Sep 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: TUBG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tubg1 has been classified as Green List (High Evidence).

6 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tubg1 has been classified as Green List (High Evidence).

6 Sep 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: TUBG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Sep 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TUBG1 were set to 23603762

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to TUBG1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TUBG1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TUBG1 was created by Sarah Leigh