Cerebellar hypoplasia

Gene: TUBA1A

Green List (high evidence)

TUBA1A (tubulin alpha 1a)
EnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 16 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Offered on GOSH PCH panel as cerebellar hypoplasia often associated feature
Created: 14 Nov 2016, 10:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Lissencephaly 3 6,1603


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)

TUBA1A was added to Cerebellar hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Literature,Radboud University Medical Center, Nijmegen

14 Nov 2016, Gel status: 0


Alice Gardham (Genomics England)

TUBA1A was created by agardham