Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cortical dysplasia, complex, with other brain malformations 1 614039
- OMIM
- 602661
- Clinvar variants
- Variants in TUBB3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Cerebellar hypoplasia
- Intellectual disability
- Early onset or syndromic epilepsy
- Ataxia and cerebellar anomalies - childhood onset
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Congenital fibrosis of the extraocular muscles
- Cerebral vascular malformations
- Malformations of cortical development
- Hereditary ataxia, adult onset
- DDG2P
- Fetal anomalies
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TUBB3 was added gene: TUBB3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB3 were set to 20829227 Phenotypes for gene: TUBB3 were set to Cortical dysplasia, complex, with other brain malformations 1 614039