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  3. TUBB3
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Cerebellar hypoplasia

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)

Green List (high evidence)

Offered on UKGTN cortical brain malformation and GOSH PCH panel
Created: 14 Nov 2016, 11:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 1 614039

Publications

Created: 14 Nov 2016, 11:50 a.m.

Panel version: 0.67

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
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

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

14 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

14 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

TUBB3 was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Literature,Emory Genetics Laboratory,UKGTN

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

TUBB3 was created by agardham