Ataxia and cerebellar anomalies - narrow panel
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Polymicrogyria with optic nerve hypoplasia, 613180
- OMIM
- 605742
- Clinvar variants
- Variants in TUBA8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebral vascular malformations
- Malformations of cortical development
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Cytopenia - NOT Fanconi anaemia
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
History Filter Activity
9 Jan 2019, Gel status: 2
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
19 Dec 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TUBA8 was added gene: TUBA8 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TUBA8 were set to 19896110, 27781032 Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia, 613180