Malformations of cortical development

Gene: TUBB2A

Green List (high evidence)

TUBB2A (tubulin beta 2A class IIa)
EnsemblGeneIds (GRCh38): ENSG00000137267
EnsemblGeneIds (GRCh37): ENSG00000137267
OMIM: 615101, Gene2Phenotype
TUBB2A is in 7 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P and offered on UKGTN
Created: 19 Dec 2016, 10:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 5 615763

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 5 615763
OMIM
615101
Clinvar variants
Variants in TUBB2A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TUBB2A were set to Cortical dysplasia, complex, with other brain malformations 5 615763

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TUBB2A were set to 24702957

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: 2

Upload gene information

Alice Gardham (Genomics England)

TUBB2A was added to Malformations of cortical developmentpanel. Sources: Radboud University Medical Center, Nijmegen,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)

TUBB2A was added to Malformations of cortical developmentpanel. Sources: Other

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TUBB2A was created by sleigh