1. Panels
  2. Malformations of cortical development
  3. TUBB2B
STRs in panel
Prev Next

Malformations of cortical development

Gene: TUBB2B

Green List (high evidence)
TUBB2B (tubulin beta 2B class IIb)
EnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 13 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on mode of pathogenicity: Dominant negative
Created: 15 Dec 2016, 4:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polymicrogyria, symmetric or asymmetric 610031

Mode of pathogenicity
Other

Created: 15 Dec 2016, 4:53 p.m.

Panel version: 1.56

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
OMIM
612850
Clinvar variants
Variants in TUBB2B
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

22 Dec 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TUBB2B were changed from Polymicrogyria, symmetric or asymmetric 610031 to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031

19 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TUBB2B were set to Polymicrogyria, symmetric or asymmetric 610031

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 mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for TUBB2B was changed to Other - please provide details in the comments

15 Dec 2016, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

TUBB2B was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

22 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to Version 1 on 22nd November 2016

11 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TUBB2B was added to Malformations of cortical developmentpanel. Sources: UKGTN

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TUBB2B was created by sleigh