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  3. TUBB
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Malformations of cortical development

Gene: TUBB

Green List (high evidence)
TUBB (tubulin beta class I)
EnsemblGeneIds (GRCh38): ENSG00000196230
EnsemblGeneIds (GRCh37): ENSG00000196230
OMIM: 191130, Gene2Phenotype
TUBB is in 11 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green following reassessment of evidence as suggested by Helen Brittain, TUBB is a confirmed Gene2Phenotype gene for cortical dysplasia disorder (MIM:615771). Plus 3 unrelated cases from the literature (PMID:23246003).
Created: 24 Sep 2018, 9:01 a.m.
In 3 unrelated children of different ethnicities with complex cortical dysplasia with other brain malformations-6 (MIM:615771) and microcephaly, Breuss et al. (2012, PMID:23246003) identified 3 different de novo heterozygous missense variants in the TUBB gene.
Created: 24 Sep 2018, 8:59 a.m.
Comment on publications: TUBB is called TUBB5 in some literature (e.g. PMID:23246003).
Created: 24 Sep 2018, 8:57 a.m.
Created: 24 Sep 2018, 8:57 a.m.

Panel version: 1.155

Alice Gardham (Genomics England)

I don't know

Comment when marking as ready: recognised on G2P. Offered on UKGTN. Listed in GeneReview
Created: 19 Dec 2016, 10:50 a.m.
Mutations reported in three unrelated individuals only
Created: 15 Dec 2016, 4:48 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 6 615771

Publications

Created: 15 Dec 2016, 4:48 p.m.

Panel version: 1.54

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Other
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 6, 615771
OMIM
191130
Clinvar variants
Variants in TUBB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

24 Sep 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TUBB were set to 27010057, 23246003; 30016746

24 Sep 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TUBB were set to 27010057, 23246003

24 Sep 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TUBB were changed from Cortical dysplasia, complex, with other brain malformations 6 to Cortical dysplasia, complex, with other brain malformations 6, 615771

19 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

19 Dec 2016, Gel status: 2

Set publications

Alice Gardham (Genomics England)

Publications for TUBB were set to 27010057, 23246003

19 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

15 Dec 2016, Gel status: 1

Upload gene information

Alice Gardham (Genomics England)

TUBB was added to Malformations of cortical developmentpanel. Sources: UKGTN

22 Nov 2016, Gel status: 0

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to Version 1 on 22nd November 2016

11 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TUBB was added to Malformations of cortical developmentpanel. Sources: Other

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TUBB was created by sleigh