Malformations of cortical development

Gene: TUBB3

Green List (high evidence)

TUBB3 (tubulin beta 3 class III)
EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 13 panels

1 review

Alice Gardham (Genomics England)

Comment on list classification: Probable DD gene on G2P. Found in at least 8 unrelated individuals
Created: 19 Dec 2016, 2:40 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Other
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 1 614039
OMIM
602661
Clinvar variants
Variants in TUBB3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for TUBB3 were set to 20829227

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 3

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for TUBB3 were set to Cortical dysplasia, complex, with other brain malformations 1 614039

15 Dec 2016, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

TUBB3 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

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)

TUBB3 was added to Malformations of cortical developmentpanel. Sources: Other

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TUBB3 was created by sleigh