BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: TUBB

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_201507; ddg2p_201507_conf; GEL_ID_green_20160217; neuro_20160418_strict; All missense/in frame
Created: 7 Feb 2017, 5:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 5:03 p.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

BRIDGE

Phenotypes

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

OMIM

191130

Clinvar variants

Variants in TUBB

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TUBB was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source