This Panel is marked as Deleted
Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services
Gene: TUBA8
TUBA8 (tubulin alpha 8)
EnsemblGeneIds (GRCh38): ENSG00000183785
EnsemblGeneIds (GRCh37): ENSG00000183785
OMIM: 605742, Gene2Phenotype
TUBA8 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000183785
EnsemblGeneIds (GRCh37): ENSG00000183785
OMIM: 605742, Gene2Phenotype
TUBA8 is in 13 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 605742
- Clinvar variants
- Variants in TUBA8
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Hereditary ataxia with onset in adulthood
- 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
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)TUBA8 was added to Cerebellar and Pontocerebellar hypoplasia Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)TUBA8 was created by Sarah Leigh