Inherited white matter disorders
Gene: TUBB2B
TUBB2B (tubulin beta 2B class IIb)
EnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 13 panels
1 review
Zornitza Stark (Australian Genomics)
No evidence of an association with white matter abnormalities that I can find.Created: 24 Jul 2018, 11:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 7, MIM#610031
Details
- Sources
-
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 612850
- Clinvar variants
- Variants in TUBB2B
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Congenital fibrosis of the extraocular muscles
- Cerebellar hypoplasia
- Intellectual disability
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Cerebral vascular malformations
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Fetal anomalies
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: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TUBB2B was added to Inherited white matter disorderspanel. Sources: UKGTN
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TUBB2B was created by ellenmcdonagh