Cerebral vascular malformations
Gene: TUBB3
TUBB3 (tubulin beta 3 class III)
EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000258947
EnsemblGeneIds (GRCh37): ENSG00000258947
OMIM: 602661, Gene2Phenotype
TUBB3 is in 13 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:37 a.m.
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 602661
- Clinvar variants
- Variants in TUBB3
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Cerebral vascular malformations
- Malformations of cortical development
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Congenital fibrosis of the extraocular muscles
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
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 TUBB3.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TUBB3.
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)TUBB3 was created by ellenmcdonagh
9 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TUBB3 was added to Cerebrovascular disorderspanel. Sources: UKGTN