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  2. Cerebellar and Pontocerebellar Hypoplasia
  3. TUBB
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Cerebellar and Pontocerebellar Hypoplasia

Gene: TUBB

Amber List (moderate evidence)
TUBB (tubulin beta class I)
EnsemblGeneIds (GRCh38): ENSG00000196230
EnsemblGeneIds (GRCh37): ENSG00000196230
OMIM: 191130, Gene2Phenotype
TUBB is in 9 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Previously reported as TUBB5. Limited evidence supporting cerebellar hypoplasia

Brainstem hypoplasia; Cerebellar hypoplasia listed in OMIM clinical synopsis (Cortical dysplasia, complex, with other brain malformations 6)
Breuss M: Cerebellum abnormalities reported in 3 patients with de novo missense variants. (1x Hypoplastic and dysplastic cerebellar vermis; 1x Possible white matter abnormalities.; 1x Large 4th ventricle)
Decipher DDD - 1 of 4 patient reported with Aplasia/Hypoplasia of the cerebellar vermis
Red in PanelApp UK
Sources: Expert Review
Created: 19 Apr 2020, 11:14 p.m. | Last Modified: 19 Apr 2020, 11:16 p.m.
Panel Version: 0.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cortical dysplasia, complex, with other brain malformations 6 (MIM#615771)

Publications

Created: 19 Apr 2020, 11:14 p.m.
Last Modified: 19 Apr 2020, 11:16 p.m.
Panel version: 0.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 6 (MIM#615771)
OMIM
191130
Clinvar variants
Variants in TUBB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: TUBB was added gene: TUBB was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB were set to 23246003 Phenotypes for gene: TUBB were set to Cortical dysplasia, complex, with other brain malformations 6 (MIM#615771) Review for gene: TUBB was set to AMBER