Inherited white matter disorders
Gene: TUBA8
TUBA8 (tubulin alpha 8)
EnsemblGeneIds (GRCh38): ENSG00000183785
EnsemblGeneIds (GRCh37): ENSG00000183785
OMIM: 605742, Gene2Phenotype
TUBA8 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000183785
EnsemblGeneIds (GRCh37): ENSG00000183785
OMIM: 605742, Gene2Phenotype
TUBA8 is in 14 panels
1 review
Zornitza Stark (Australian Genomics)
No evidence of an association with white matter abnormalities that I can find.Created: 24 Jul 2018, 11:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia, complex, with other brain malformations 8, MIM#613180
Details
- Sources
-
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 605742
- Clinvar variants
- Variants in TUBA8
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Cerebral vascular malformations
- Early onset or syndromic epilepsy
- DDG2P
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Bleeding and platelet disorders
- Malformations of cortical development
- Ataxia and cerebellar anomalies - childhood onset
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Hereditary ataxia, adult onset
- Cerebellar hypoplasia
History Filter Activity
6 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TUBA8 was created by ellenmcdonagh
5 Apr 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TUBA8 was added to Inherited white matter disorderspanel. Sources: UKGTN