Cerebellar and Pontocerebellar Hypoplasia
Gene: TUBB2BEnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Malformations predominantly affect the cortex, and cerebellar hypoplasia is a variably reported.Created: 15 Feb 2021, 7:17 a.m. | Last Modified: 15 Feb 2021, 7:17 a.m.
Panel Version: 0.224
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
- OMIM
- 612850
- Clinvar variants
- Variants in TUBB2B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tubb2b has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TUBB2B were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tubb2b has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TUBB2B was added gene: TUBB2B was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TUBB2B was set to Unknown