Cerebral vascular malformations
Gene: TUBA1A
TUBA1A (tubulin alpha 1a)
EnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000167552
EnsemblGeneIds (GRCh37): ENSG00000167552
OMIM: 602529, Gene2Phenotype
TUBA1A is in 15 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:35 a.m.
Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:35 a.m.
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 602529
- Clinvar variants
- Variants in TUBA1A
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Cerebellar hypoplasia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Cerebral vascular malformations
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Familial Hirschsprung Disease
- Malformations of cortical development
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to TUBA1A.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TUBA1A.
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
12 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
9 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TUBA1A was created by ellenmcdonagh
9 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TUBA1A was added to Cerebrovascular disorderspanel. Sources: UKGTN