Mosaic brain disorders - deep sequencing
Gene: TUBB2BEnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 13 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Publications
- PMID: 25140959
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:36 p.m.
Panel Version: 0.93
Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: AD, mosaic. Publications: Jamuar et al 2013 NEJM. Mechanism: no information provided. Penetrance: no information provided.Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.
Panel Version: 0.2
Phenotypes
Cortical Dysplasia, Complex Cerebral malformation
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
- OMIM
- 612850
- Clinvar variants
- Variants in TUBB2B
- Penetrance
- None
- Publications
- 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
-
- Hereditary ataxia with onset in adulthood
- Congenital fibrosis of the extraocular muscles
- Intellectual disability
- Early onset or syndromic epilepsy
- Cerebellar hypoplasia
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Cerebral vascular malformations
- Malformations of cortical development
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to TUBB2B.
Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)Mode of pathogenicity for gene: TUBB2B 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
Arina Puzriakova (Genomics England Curator)Gene: tubb2b has been classified as Green List (High Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TUBB2B were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: TUBB2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: TUBB2B was added gene: TUBB2B was added to Mosaic brain disorders. Sources: Expert list Mode of inheritance for gene: TUBB2B was set to