Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: TUBB

Green List (high evidence)

TUBB (tubulin beta class I)
EnsemblGeneIds (GRCh38): ENSG00000196230
EnsemblGeneIds (GRCh37): ENSG00000196230
OMIM: 191130, Gene2Phenotype
TUBB is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TUBB; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, 615771 (3) | Symmetric circumferential skin creases, congenital, 1, 156610 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Symmetric circumferential skin creases, congenital, 1, 156610
  • Cortical dysplasia, complex, with other brain malformations 6, 615771
OMIM
191130
Clinvar variants
Variants in TUBB
Penetrance
None
Publications
Panels with this gene