Hereditary ataxia with onset in adulthood
Gene: TUBA1AEnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Seems to be predominantely de novo missense variants - ataxia is listed part of phenotype but feels that given extreme brain phenotype other panels may be more appropriateCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lissencephaly 3, 611603
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Lissencephaly 3, 611603
- OMIM
- 602529
- Clinvar variants
- Variants in TUBA1A
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Intellectual disability
- Inherited white matter disorders
- Familial Hirschsprung Disease
- Cerebral vascular malformations
- Malformations of cortical development
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Fetal anomalies
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set mode of pathogenicity
Louise Daugherty (Genomics England Curator)Mode of pathogenicity for gene: TUBA1A was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: tuba1a has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Lissencephaly 3, 611603 for gene: TUBA1A
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TUBA1A.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: TUBA1A was added gene: TUBA1A was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBA1A was set to