Cerebellar hypoplasia
Gene: TUBB3
TUBB3 (tubulin beta 3 class III)
EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 13 panels
1 review
Alice Gardham (Genomics England)
Offered on UKGTN cortical brain malformation and GOSH PCH panelCreated: 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
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
-
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Congenital fibrosis of the extraocular muscles
- Cerebral vascular malformations
- DDG2P
- Malformations of cortical development
- Hereditary ataxia, adult onset
- Early onset or syndromic epilepsy
- Fetal anomalies
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