Intellectual disability syndromic and non-syndromic
Gene: BUB1B

BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association. Intellectual disability is part of the phenotype, and is often profound.
Created: 12 Dec 2022, 1:46 a.m. | Last Modified: 12 Dec 2022, 1:46 a.m.

Panel Version: 0.5124

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mosaic variegated aneuploidy syndrome 1, MIM# 257300

Created: 12 Dec 2022, 1:46 a.m.
Last Modified: 12 Dec 2022, 1:46 a.m.
Panel version: 0.5124

Liyan Song (Monash Health)

I don't know

BUB1B is critical to cell mitosis by regulating the spindle-assembly checkpoint. The different level of BUB1B expression has different consequences for cell mitosis. Heterozygous mutation of BUB1B could cause Premature chromatid separation trait, with biallelic mutations could cause Mosaic variegated aneuploidy syndrome 1.

PCS is observed in over 20 different cases on MIM and MVA1 has also been described in a number of different families.
Created: 12 Dec 2022, 12:24 a.m. | Last Modified: 12 Dec 2022, 12:24 a.m.

Panel Version: 0.5124

Mode of inheritance
Other

Phenotypes
Mosaic variegated aneuploidy syndrome 1, MIM: #257300; Premature chromatid separation trait, MIM: #176430

Publications

Created: 12 Dec 2022, 12:24 a.m.
Last Modified: 12 Dec 2022, 12:24 a.m.
Panel version: 0.5124

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Mosaic variegated aneuploidy syndrome 1, MIM# 257300

OMIM

602860

Clinvar variants

Variants in BUB1B

Penetrance

None

Publications

Panels with this gene