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  3. TUBB2B
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Cerebellar hypoplasia

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)

Offered on UKGTN and GOSH PCH panel
Created: 14 Nov 2016, 11:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex cortical dysplasia with other brain malformations-7 , 610031

Publications

Created: 14 Nov 2016, 11:45 a.m.

Panel version: 0.66

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
  • UKGTN
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
OMIM
612850
Clinvar variants
Variants in TUBB2B
Penetrance
Complete
Publications
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 complex cortical dysplasia with other brain malformations-7 , 610031 to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031

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)

TUBB2B was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Literature,UKGTN

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

TUBB2B was created by agardham