Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services
Gene: TUBB2BEnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 13 panels
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Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 612850
- Clinvar variants
- Variants in TUBB2B
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Congenital fibrosis of the extraocular muscles
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- Cerebellar hypoplasia
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Cerebral vascular malformations
- Malformations of cortical development
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)TUBB2B was added to Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)TUBB2B was created by Sarah Leigh