Cerebellar and Pontocerebellar Hypoplasia

Gene: TUBB2B

Amber List (moderate evidence)

TUBB2B (tubulin beta 2B class IIb)
EnsemblGeneIds (GRCh38): ENSG00000137285
EnsemblGeneIds (GRCh37): ENSG00000137285
OMIM: 612850, Gene2Phenotype
TUBB2B is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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

15 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb2b has been classified as Amber List (Moderate Evidence).

15 Feb 2021, Gel status: 2

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

15 Feb 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBB2B were set to

15 Feb 2021, Gel status: 2

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

15 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubb2b has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

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